Q9BWT7 · CAR10_HUMAN
- ProteinCaspase recruitment domain-containing protein 10
- GeneCARD10
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1032 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV52657635 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519198C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519198C>T Locations: - p.Met1? (cosmic curated:ENST00000251973) - c.3G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752903396 | 2 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37519196G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519196G>A Locations: - p.Pro2Leu (Ensembl:ENST00000251973) - c.5C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752903396 | 2 | P>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000022.11:g.37519196G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519196G>T Locations: - p.Pro2Gln (Ensembl:ENST00000251973) - c.5C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs763035051 | 2 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37519197G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519197G>A Locations: - p.Pro2Ser (Ensembl:ENST00000251973) - c.4C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1168618535 | 3 | G>A | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37519193C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519193C>G Locations: - p.Gly3Ala (Ensembl:ENST00000251973) - c.8G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1168618535 | 3 | G>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37519193C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519193C>T Locations: - p.Gly3Asp (Ensembl:ENST00000251973) - c.8G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1402533985 | 3 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000022.11:g.37519194C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519194C>G Locations: - p.Gly3Arg (Ensembl:ENST00000251973) - c.7G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1402533985 | 3 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000022.11:g.37519194C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519194C>T Locations: - p.Gly3Ser (Ensembl:ENST00000251973) - c.7G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1170796314 | 4 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000022.11:g.37519191G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519191G>C Locations: - p.Arg4Gly (Ensembl:ENST00000251973) - c.10C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs765562011 | 5 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000022.11:g.37519187G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519187G>C Locations: - p.Ala5Gly (Ensembl:ENST00000251973) - c.14C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1477972138 | 5 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37519188C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519188C>T Locations: - p.Ala5Thr (Ensembl:ENST00000251973) - c.13G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs765562011 | 5 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37519187G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519187G>A Locations: - p.Ala5Val (Ensembl:ENST00000251973) - c.14C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923946500 | 6 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37519185C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519185C>T Locations: - p.Glu6Lys (Ensembl:ENST00000251973) - c.16G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1201401562 | 7 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000022.11:g.37519182C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519182C>T Locations: - p.Ala7Thr (Ensembl:ENST00000251973) - c.19G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1237122379 | 8 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000022.11:g.37519178C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519178C>T Locations: - p.Gly8Glu (Ensembl:ENST00000251973) - c.23G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1458848480 | 9 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37519176C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519176C>A Locations: - p.Glu9Ter (Ensembl:ENST00000251973) - c.25G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1273055482 | 9 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000022.11:g.37519175T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519175T>C Locations: - p.Glu9Gly (Ensembl:ENST00000251973) - c.26A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1458848480 | 9 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37519176C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519176C>T Locations: - p.Glu9Lys (Ensembl:ENST00000251973) - c.25G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs771224884 | 10 | A>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37519172G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519172G>C Locations: - p.Ala10Gly (Ensembl:ENST00000251973) - c.29C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs771224884 | 10 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000022.11:g.37519172G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519172G>A Locations: - p.Ala10Val (Ensembl:ENST00000251973) - c.29C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923945751 | 11 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37519169T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519169T>C Locations: - p.Glu11Gly (Ensembl:ENST00000251973) - c.32A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs935614395 | 12 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37519166T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519166T>C Locations: - p.Glu12Gly (Ensembl:ENST00000251973) - c.35A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs761227353 | 12 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37519167C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519167C>T Locations: - p.Glu12Lys (Ensembl:ENST00000251973) - c.34G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs761227353 | 12 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37519167C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519167C>G Locations: - p.Glu12Gln (Ensembl:ENST00000251973) - c.34G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1342559029 | 14 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37519160G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519160G>A Locations: - p.Ala14Val (Ensembl:ENST00000251973) - c.41C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs773866302 | 15 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37519157C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519157C>T Locations: - p.Gly15Glu (Ensembl:ENST00000251973) - c.44G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs925303442 | 15 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37519158C>T, NC_000022.11:g.37519158C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519158C>T, NC_000022.11:g.37519158C>G Locations: - p.Gly15Arg (Ensembl:ENST00000251973) - c.43G>A (Ensembl:ENST00000251973) - c.43G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1329580594 | 16 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37519155C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519155C>T Locations: - p.Ala16Thr (Ensembl:ENST00000251973) - c.46G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1400623786 | 17 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37519152C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519152C>A Locations: - p.Gly17Cys (Ensembl:ENST00000251973) - c.49G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658378 rs1174836167 | 17 | G>D | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000022.11:g.37519151C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519151C>T Locations: - p.Gly17Asp (Ensembl:ENST00000251973) - c.50G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1400623786 | 17 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37519152C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519152C>G Locations: - p.Gly17Arg (Ensembl:ENST00000251973) - c.49G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655149 rs768265846 | 18 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000022.11:g.37519148G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519148G>A Locations: - p.Ser18Leu (Ensembl:ENST00000251973) - c.53C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs774971239 | 19 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000022.11:g.37519145C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519145C>T Locations: - p.Gly19Glu (Ensembl:ENST00000251973) - c.56G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs748870562 | 19 | G>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37519146C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519146C>A Locations: - p.Gly19Trp (Ensembl:ENST00000251973) - c.55G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1233120645 | 20 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000022.11:g.37519143A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519143A>C Locations: - p.Ser20Ala (Ensembl:ENST00000251973) - c.58T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1233120645 | 20 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000022.11:g.37519143A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519143A>T Locations: - p.Ser20Thr (Ensembl:ENST00000251973) - c.58T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs769535654 | 21 | E>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37519140C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519140C>G Locations: - p.Glu21Gln (Ensembl:ENST00000251973) - c.61G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs780999563 | 22 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37519136G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519136G>T Locations: - p.Ala22Glu (Ensembl:ENST00000251973) - c.65C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923943119 | 23 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519133T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519133T>A Locations: - p.Glu23Val (Ensembl:ENST00000251973) - c.68A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs940560625 | 24 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37519129C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519129C>G Locations: - p.Glu24Asp (Ensembl:ENST00000251973) - c.72G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1242094738 | 25 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000022.11:g.37519126G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519126G>T Locations: - p.Asp25Glu (Ensembl:ENST00000251973) - c.75C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1283584548 | 25 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37519127T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519127T>C Locations: - p.Asp25Gly (Ensembl:ENST00000251973) - c.74A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1352959713 | 25 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519128C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519128C>T Locations: - p.Asp25Asn (Ensembl:ENST00000251973) - c.73G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs757048654 | 26 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37519125C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519125C>A Locations: - p.Ala26Ser (Ensembl:ENST00000251973) - c.76G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs376687346 | 26 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37519124G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519124G>A Locations: - p.Ala26Val (Ensembl:ENST00000251973) - c.77C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923942219 | 31 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37519108G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519108G>C Locations: - p.Ile31Met (Ensembl:ENST00000251973) - c.93C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs758469673 | 31 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000022.11:g.37519110T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519110T>C Locations: - p.Ile31Val (Ensembl:ENST00000251973) - c.91A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923942116 | 32 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519107C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519107C>G Locations: - p.Glu32Gln (Ensembl:ENST00000251973) - c.94G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1261246330 | 33 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37519104C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519104C>T Locations: - p.Gly33Ser (Ensembl:ENST00000251973) - c.97G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs867378014 | 35 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519097C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519097C>A Locations: - p.Arg35Leu (Ensembl:ENST00000251973) - c.104G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs867378014 | 35 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519097C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519097C>T Locations: - p.Arg35Gln (Ensembl:ENST00000251973) - c.104G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs955195664 | 36 | H>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519095G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519095G>C Locations: - p.His36Asp (Ensembl:ENST00000251973) - c.106C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1756530701 | 36 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519094T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519094T>C Locations: - p.His36Arg (Ensembl:ENST00000251973) - c.107A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1402819026 | 37 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37519091C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519091C>G Locations: - p.Arg37Pro (Ensembl:ENST00000251973) - c.110G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657104 | 37 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000022.11:g.37519092G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519092G>A Locations: - p.R37W (NCI-TCGA:ENST00000251973) - p.Arg37Trp (cosmic curated:ENST00000251973) - c.109C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs766788929 | 40 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519083G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519083G>A Locations: - p.Arg40Cys (Ensembl:ENST00000251973) - c.118C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs766788929 | 40 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519083G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519083G>T Locations: - p.Arg40Ser (Ensembl:ENST00000251973) - c.118C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1411809415 | 41 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000022.11:g.37519080C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519080C>T Locations: - p.Ala41Thr (Ensembl:ENST00000251973) - c.121G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324893 | 42 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519076A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519076A>G Locations: - p.Leu42Pro (cosmic curated:ENST00000251973) - c.125T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1471644973 | 44 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519071G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519071G>C Locations: - p.Pro44Ala (Ensembl:ENST00000251973) - c.130C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1471644973 | 44 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519071G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519071G>A Locations: - p.Pro44Ser (Ensembl:ENST00000251973) - c.130C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324950 | 46 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37519063C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519063C>A Locations: - p.K46N (NCI-TCGA:ENST00000251973) - p.Lys46Asn (cosmic curated:ENST00000251973) - c.138G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105866741 | 47 | L>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519061A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519061A>T Locations: - p.Leu47His (cosmic curated:ENST00000251973) - c.140T>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923939865 | 48 | T>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519058G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519058G>A Locations: - p.Thr48Met (Ensembl:ENST00000251973) - c.143C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324844 | 49 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37519055G>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519055G>C Locations: - p.P49R (NCI-TCGA:ENST00000251973) - p.Pro49Arg (cosmic curated:ENST00000251973) - c.146C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660269 | 54 | C>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519041A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519041A>C Locations: - p.Cys54Gly (cosmic curated:ENST00000251973) - c.160T>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654487 | 54 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519040C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519040C>T Locations: - p.Cys54Tyr (cosmic curated:ENST00000251973) - c.161G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1227950466 | 55 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519037C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519037C>T Locations: - p.Arg55Gln (Ensembl:ENST00000251973) - c.164G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768174174 | 55 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519038G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519038G>A Locations: - p.Arg55Trp (Ensembl:ENST00000251973) - c.163C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325183 | 56 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519034A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519034A>G Locations: - p.Val56Ala (cosmic curated:ENST00000251973) - c.167T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1295155383 | 57 | I>M | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.68) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519030G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519030G>C Locations: - p.Ile57Met (Ensembl:ENST00000251973) - c.171C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656088 | 58 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519028T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519028T>C Locations: - p.Asp58Gly (cosmic curated:ENST00000251973) - c.173A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145779609 | 58 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519029C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519029C>T Locations: - p.Asp58Asn (Ensembl:ENST00000251973) - c.172G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1415512247 | 59 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37519025T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519025T>A Locations: - p.Glu59Val (Ensembl:ENST00000251973) - c.176A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1296904571 | 61 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519020C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519020C>T Locations: - p.Asp61Asn (Ensembl:ENST00000251973) - c.181G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105866742 | 62 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519017C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519017C>A Locations: - p.Glu62Ter (cosmic curated:ENST00000251973) - c.184G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923938547 | 62 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519017C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519017C>T Locations: - p.Glu62Lys (Ensembl:ENST00000251973) - c.184G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656331 | 63 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519012C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519012C>A Locations: - p.Glu63Asp (cosmic curated:ENST00000251973) - c.189G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1276495532 | 63 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519013T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519013T>C Locations: - p.Glu63Gly (Ensembl:ENST00000251973) - c.188A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1323357133 | 65 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519008C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519008C>T Locations: - p.Val65Met (Ensembl:ENST00000251973) - c.193G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1204136797 | 66 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37519005G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37519005G>T Locations: - p.Leu66Met (Ensembl:ENST00000251973) - c.196C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659421 | 67 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37519001C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37519001C>G Locations: - p.Ser67Thr (cosmic curated:ENST00000251973) - c.200G>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1483822868 | 68 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000022.11:g.37518999T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518999T>C Locations: - p.Thr68Ala (Ensembl:ENST00000251973) - c.202A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145779581 | 69 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000022.11:g.37518995T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518995T>G Locations: - p.Tyr69Ser (Ensembl:ENST00000251973) - c.206A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs569899430 | 70 | R>G | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37518993G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518993G>C Locations: - p.Arg70Gly (Ensembl:ENST00000251973) - c.208C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs962990164 | 70 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37518992C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518992C>T Locations: - p.Arg70His (Ensembl:ENST00000251973) - c.209G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659719 | 70 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37518992C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37518992C>A Locations: - p.Arg70Leu (cosmic curated:ENST00000251973) - c.209G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs569899430 | 70 | R>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37518993G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518993G>T Locations: - p.Arg70Ser (Ensembl:ENST00000251973) - c.208C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1421316562 | 71 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.282) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000022.11:g.37518988G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518988G>C Locations: - p.Phe71Leu (Ensembl:ENST00000251973) - c.213C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658936 rs1279247990 | 72 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000022.11:g.37518986G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518986G>A Locations: - p.Pro72Leu (Ensembl:ENST00000251973) - c.215C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1486189845 | 73 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000022.11:g.37518983C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518983C>G Locations: - p.Cys73Ser (Ensembl:ENST00000251973) - c.218G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1245894606 | 74 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518980C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518980C>T Locations: - p.Arg74His (Ensembl:ENST00000251973) - c.221G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs777658023 | 76 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37518974T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518974T>C Locations: - p.Asn76Ser (Ensembl:ENST00000251973) - c.227A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660383 rs1200226771 | 77 | R>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518971C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518971C>T Locations: - p.Arg77His (Ensembl:ENST00000251973) - c.230G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923902797 | 80 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518106G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518106G>A Locations: - p.Arg80Cys (Ensembl:ENST00000251973) - c.238C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659980 rs772945473 | 80 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: tolerated (0.06) - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.11) Somatic: Yes Population frequencies: - MAF: 0.000003993 (gnomAD) Accession: NC_000022.11:g.37518105C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518105C>T Locations: - p.R80H (NCI-TCGA:ENST00000251973) - p.Arg80His (Ensembl:ENST00000251973) - c.239G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs772945473 | 80 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.723) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000022.11:g.37518105C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518105C>A Locations: - p.Arg80Leu (Ensembl:ENST00000251973) - c.239G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs2145778782 | 82 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518099A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518099A>G Locations: - p.Met82Thr (Ensembl:ENST00000251973) - c.245T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1037851847 | 84 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518092G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518092G>C Locations: - p.Ile84Met (Ensembl:ENST00000251973) - c.252C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657806 | 84 | I>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37518093A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37518093A>G Locations: - p.Ile84Thr (cosmic curated:ENST00000251973) - c.251T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748053572 | 85 | L>F | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518089C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518089C>G Locations: - p.Leu85Phe (Ensembl:ENST00000251973) - c.255G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs888272714 | 85 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518091A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518091A>C Locations: - p.Leu85Val (Ensembl:ENST00000251973) - c.253T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657302 | 86 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518088G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518088G>A Locations: - c.256C>T (NCI-TCGA:ENST00000251973) - p.R86C (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657302 | 86 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000022.11:g.37518088G>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518088G>C Locations: - p.R86G (NCI-TCGA:ENST00000251973) - p.Arg86Gly (cosmic curated:ENST00000251973) - c.256C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324992 COSV99325435 | 88 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518082G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518082G>A Locations: - p.R88C (NCI-TCGA:ENST00000251973) - p.Arg88Cys (cosmic curated:ENST00000251973) - c.262C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1395423370 | 88 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518081C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518081C>T Locations: - p.Arg88His (Ensembl:ENST00000251973) - c.263G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324992 COSV99325435 | 88 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518082G>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518082G>T Locations: - p.R88S (NCI-TCGA:ENST00000251973) - p.Arg88Ser (cosmic curated:ENST00000251973) - c.262C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325046 | 90 | K>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518075T>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518075T>A Locations: - p.K90M (NCI-TCGA:ENST00000251973) - p.Lys90Met (cosmic curated:ENST00000251973) - c.269A>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324873 | 91 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37518072C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37518072C>A Locations: - p.Arg91Met (cosmic curated:ENST00000251973) - c.272G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1177830881 | 92 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518069C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518069C>G Locations: - p.Gly92Ala (Ensembl:ENST00000251973) - c.275G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1177830881 | 92 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518069C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518069C>A Locations: - p.Gly92Val (Ensembl:ENST00000251973) - c.275G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1397344151 | 93 | Y>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37518066T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518066T>C Locations: - p.Tyr93Cys (Ensembl:ENST00000251973) - c.278A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657446 | 96 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518056G>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518056G>T Locations: - c.288C>A (NCI-TCGA:ENST00000251973) - p.F96L (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 99 | A>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.724) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518049C>G Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518049C>G Locations: - c.295G>C (NCI-TCGA:ENST00000251973) - p.A99P (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV107248784 | 99 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37518049C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37518049C>A Locations: - p.Ala99Ser (cosmic curated:ENST00000251973) - c.295G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs145415023 | 99 | A>V | ESP | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518048G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518048G>A Locations: - p.Ala99Val (Ensembl:ENST00000251973) - c.296C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV106350294 | 100 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37518045A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37518045A>G Locations: - p.Leu100Pro (cosmic curated:ENST00000251973) - c.299T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659902 | 100 | L>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37518045A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37518045A>C Locations: - p.Leu100Arg (cosmic curated:ENST00000251973) - c.299T>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs778732750 | 100 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518046G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518046G>C Locations: - p.Leu100Val (Ensembl:ENST00000251973) - c.298C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs768775297 | 101 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518042T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518042T>C Locations: - p.Glu101Gly (Ensembl:ENST00000251973) - c.302A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1255542301 | 103 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518036T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518036T>C Locations: - p.Tyr103Cys (Ensembl:ENST00000251973) - c.308A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659569 | 105 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518030G>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518030G>T Locations: - p.P105H (NCI-TCGA:ENST00000251973) - p.Pro105His (cosmic curated:ENST00000251973) - c.314C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs756354785 | 105 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518030G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518030G>A Locations: - p.Pro105Leu (Ensembl:ENST00000251973) - c.314C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658732 rs372809047 | 106 | E>K | cosmic curated ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37518028C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518028C>T Locations: - p.Glu106Lys (Ensembl:ENST00000251973) - c.316G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1239921794 | 107 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518025G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518025G>C Locations: - p.His107Asp (Ensembl:ENST00000251973) - c.319C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 107 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37518025G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518025G>A Locations: - c.319C>T (NCI-TCGA:ENST00000251973) - p.H107Y (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52657455 rs757574816 | 108 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious (0) - PolyPhen: benign (0.287) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00002786 (gnomAD) Accession: NC_000022.11:g.37518020G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518020G>C Locations: - p.F108L (NCI-TCGA:ENST00000251973) - p.Phe108Leu (Ensembl:ENST00000251973) - c.324C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654301 rs752095306 | 109 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37518018G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518018G>A Locations: - p.Thr109Met (Ensembl:ENST00000251973) - c.326C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1442372017 | 110 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37518016G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518016G>T Locations: - p.Leu110Met (Ensembl:ENST00000251973) - c.328C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325288 rs1377804818 | 112 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003982 (gnomAD) Accession: NC_000022.11:g.37518009G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518009G>A Locations: - p.T112M (NCI-TCGA:ENST00000251973) - p.Thr112Met (Ensembl:ENST00000251973) - c.335C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1416522612 | 113 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37518007C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37518007C>A Locations: - p.Gly113Cys (Ensembl:ENST00000251973) - c.337G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658743 | 113 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37518007C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37518007C>T Locations: - p.Gly113Ser (cosmic curated:ENST00000251973) - c.337G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs917173339 | 116 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37517997G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517997G>A Locations: - p.Pro116Leu (Ensembl:ENST00000251973) - c.347C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs867076487 | 116 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37517998G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517998G>A Locations: - p.Pro116Ser (Ensembl:ENST00000251973) - c.346C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs374641596 | 117 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000022.11:g.37517995C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517995C>T Locations: - p.Ala117Thr (Ensembl:ENST00000251973) - c.349G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV108042603 | 117 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37517994G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37517994G>A Locations: - p.Ala117Val (cosmic curated:ENST00000251973) - c.350C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1417636892 | 119 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000022.11:g.37517989G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517989G>A Locations: - p.R119C (NCI-TCGA:ENST00000251973) - p.Arg119Cys (Ensembl:ENST00000251973) - c.355C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV106087371 rs1362216983 | 119 | R>H | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37517988C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517988C>T Locations: - p.Arg119His (Ensembl:ENST00000251973) - c.356G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs150070134 | 121 | S>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37517982G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517982G>C Locations: - p.Ser121Cys (Ensembl:ENST00000251973) - c.362C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52655082 COSV99324865 rs924356731 | 124 | L>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: - Somatic: No Population frequencies: - MAF: 0.000007988 (gnomAD) Accession: NC_000022.11:g.37517972G>A Consequence type: - Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517972G>A Locations: - c.372C>T (NCI-TCGA:ENST00000251973) - p.L124= (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1255514107 | 125 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37517971C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517971C>G Locations: - p.Asp125His (Ensembl:ENST00000251973) - c.373G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095436 rs1255514107 | 125 | D>N | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000022.11:g.37517971C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37517971C>T Locations: - p.Asp125Asn (Ensembl:ENST00000251973) - c.373G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654978 | 127 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516292T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516292T>A Locations: - p.Glu127Val (cosmic curated:ENST00000251973) - c.380A>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923844714 | 129 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516286G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516286G>A Locations: - p.Pro129Leu (Ensembl:ENST00000251973) - c.386C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1419080863 | 129 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37516287G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516287G>A Locations: - p.Pro129Ser (Ensembl:ENST00000251973) - c.385C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325147 rs760193849 | 130 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00004731 (gnomAD) Accession: NC_000022.11:g.37516284C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516284C>G Locations: - p.E130Q (NCI-TCGA:ENST00000251973) - p.Glu130Gln (Ensembl:ENST00000251973) - c.388G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324872 | 131 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37516280C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516280C>T Locations: - p.G131D (NCI-TCGA:ENST00000251973) - p.Gly131Asp (cosmic curated:ENST00000251973) - c.392G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs750065845 | 131 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516280C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516280C>A Locations: - p.Gly131Val (Ensembl:ENST00000251973) - c.392G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1463276570 | 133 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37516274G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516274G>A Locations: - p.Thr133Ile (Ensembl:ENST00000251973) - c.398C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1395271158 | 134 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37516272G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516272G>A Locations: - p.Gln134Ter (Ensembl:ENST00000251973) - c.400C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1039590785 | 136 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516264C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516264C>G Locations: - p.Leu136Phe (Ensembl:ENST00000251973) - c.408G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1170125272 | 137 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37516261C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516261C>T Locations: - p.Met137Ile (Ensembl:ENST00000251973) - c.411G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1344826007 | 137 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516262A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516262A>G Locations: - p.Met137Thr (Ensembl:ENST00000251973) - c.410T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660756 | 138 | T>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516260T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516260T>C Locations: - p.Thr138Ala (cosmic curated:ENST00000251973) - c.412A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923843832 | 138 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37516259G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516259G>C Locations: - p.Thr138Arg (Ensembl:ENST00000251973) - c.413C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324881 | 139 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516257C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516257C>A Locations: - p.Glu139Ter (cosmic curated:ENST00000251973) - c.415G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658994 COSV99324881 | 139 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37516257C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516257C>T Locations: - p.E139K (NCI-TCGA:ENST00000251973) - p.Glu139Lys (cosmic curated:ENST00000251973) - c.415G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs761643271 | 140 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516254C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516254C>G Locations: - p.Val140Leu (Ensembl:ENST00000251973) - c.418G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs773964688 | 141 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37516251G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516251G>A Locations: - p.Arg141Ter (Ensembl:ENST00000251973) - c.421C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52657201 rs1194260674 | 141 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000022.11:g.37516250C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516250C>T Locations: - p.Arg141Gln (Ensembl:ENST00000251973) - c.422G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs199764326 | 142 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37516247C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516247C>T Locations: - p.Arg142Gln (Ensembl:ENST00000251973) - c.425G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs763979805 | 142 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516248G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516248G>A Locations: - p.Arg142Trp (Ensembl:ENST00000251973) - c.424C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324924 | 144 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516241C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516241C>A Locations: - p.Arg144Leu (cosmic curated:ENST00000251973) - c.431G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs775579627 | 144 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000022.11:g.37516241C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516241C>T Locations: - p.Arg144Gln (Ensembl:ENST00000251973) - c.431G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs769979914 | 145 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000022.11:g.37516239C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516239C>T Locations: - p.Glu145Lys (Ensembl:ENST00000251973) - c.433G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1358267026 | 146 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37516235G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516235G>C Locations: - p.Ala146Gly (Ensembl:ENST00000251973) - c.437C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656290 rs868152109 | 147 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37516233G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516233G>A Locations: - p.Arg147Cys (Ensembl:ENST00000251973) - c.439C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324693 rs550531365 | 147 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: tolerated (0.48) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000022.11:g.37516232C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516232C>T Locations: - p.R147H (NCI-TCGA:ENST00000251973) - p.Arg147His (Ensembl:ENST00000251973) - c.440G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs550531365 | 147 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37516232C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516232C>A Locations: - p.Arg147Leu (Ensembl:ENST00000251973) - c.440G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923842359 | 148 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37516229T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516229T>C Locations: - p.Lys148Arg (Ensembl:ENST00000251973) - c.443A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1232520606 | 149 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000022.11:g.37516226C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516226C>T Locations: - p.Ser149Asn (Ensembl:ENST00000251973) - c.446G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs747277494 | 149 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000022.11:g.37516225G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516225G>T Locations: - p.Ser149Arg (Ensembl:ENST00000251973) - c.447C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs2145777272 | 150 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000022.11:g.37516222C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516222C>G Locations: - p.Gln150His (Ensembl:ENST00000251973) - c.450G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs929397246 | 152 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000022.11:g.37516217T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516217T>C Locations: - p.Gln152Arg (Ensembl:ENST00000251973) - c.455A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1187928736 | 153 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.763) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516214C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516214C>G Locations: - p.Arg153Pro (Ensembl:ENST00000251973) - c.458G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs777963707 | 153 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37516215G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516215G>A Locations: - p.Arg153Trp (Ensembl:ENST00000251973) - c.457C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923841526 | 155 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.33) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000022.11:g.37516208T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516208T>C Locations: - p.Gln155Arg (Ensembl:ENST00000251973) - c.464A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659611 | 156 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516206G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516206G>A Locations: - p.Q156* (NCI-TCGA:ENST00000251973) - p.Gln156Ter (cosmic curated:ENST00000251973) - c.466C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748599559 | 156 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37516206G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516206G>C Locations: - p.Gln156Glu (Ensembl:ENST00000251973) - c.466C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs755587097 | 158 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000022.11:g.37516199T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516199T>C Locations: - p.Gln158Arg (Ensembl:ENST00000251973) - c.473A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV104574636 | 159 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516197C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516197C>T Locations: - p.Ala159Thr (cosmic curated:ENST00000251973) - c.475G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655338 | 159 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516195-37516196GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516195-37516196GG>AA Locations: - p.Ala159Val (cosmic curated:ENST00000251973) - c.476_477delinsTT (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657693 rs981850029 | 160 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000022.11:g.37516193C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516193C>T Locations: - p.Arg160Gln (Ensembl:ENST00000251973) - c.479G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs919323160 | 160 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.728) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516194G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516194G>A Locations: - p.Arg160Trp (Ensembl:ENST00000251973) - c.478C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1466035373 | 161 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37516190C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516190C>A Locations: - p.Gly161Val (Ensembl:ENST00000251973) - c.482G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs749981577 | 162 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37516187C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516187C>A Locations: - p.Arg162Leu (Ensembl:ENST00000251973) - c.485G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs749981577 | 162 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000022.11:g.37516187C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516187C>T Locations: - p.Arg162Gln (Ensembl:ENST00000251973) - c.485G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654154 rs1393624241 | 162 | R>W | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37516188G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516188G>A Locations: - p.Arg162Trp (Ensembl:ENST00000251973) - c.484C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1373748386 | 163 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37516184A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516184A>G Locations: - p.Val163Ala (Ensembl:ENST00000251973) - c.488T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1555936618 | 164-165 | LE>* | ESP TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37516179_37516180insCTA Codon: -/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516179_37516180insCTA Locations: - p.Leu164_Glu165insTer (Ensembl:ENST00000251973) - c.492_493insTAG (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1287260583 | 165 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37516177C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516177C>G Locations: - p.Glu165Asp (Ensembl:ENST00000251973) - c.495G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs756816896 | 165 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37516179C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516179C>T Locations: - p.Glu165Lys (Ensembl:ENST00000251973) - c.493G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1004633993 | 166 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37516176C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516176C>A Locations: - p.Glu166Ter (Ensembl:ENST00000251973) - c.496G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1004633993 | 166 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37516176C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516176C>T Locations: - p.Glu166Lys (Ensembl:ENST00000251973) - c.496G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923839410 | 167 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516173C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516173C>T Locations: - p.Glu167Lys (Ensembl:ENST00000251973) - c.499G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs751228709 | 168 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516170G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516170G>A Locations: - p.Arg168Trp (Ensembl:ENST00000251973) - c.502C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1199778470 | 169 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37516166G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516166G>T Locations: - p.Ala169Glu (Ensembl:ENST00000251973) - c.506C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1250701565 | 169 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000022.11:g.37516167C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516167C>A Locations: - p.Ala169Ser (Ensembl:ENST00000251973) - c.505G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs763739012 | 170 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37516163C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516163C>T Locations: - p.Gly170Glu (Ensembl:ENST00000251973) - c.509G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923838887 | 170 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37516164C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516164C>G Locations: - p.Gly170Arg (Ensembl:ENST00000251973) - c.508G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656022 | 170 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516164C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516164C>A Locations: - p.Gly170Trp (cosmic curated:ENST00000251973) - c.508G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV106350237 | 172 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516158C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516158C>A Locations: - p.Glu172Ter (cosmic curated:ENST00000251973) - c.514G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs775563067 | 174 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000022.11:g.37516151C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516151C>T Locations: - p.Arg174Gln (Ensembl:ENST00000251973) - c.521G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs762897456 | 174 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516152G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516152G>A Locations: - p.Arg174Trp (Ensembl:ENST00000251973) - c.520C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654054 rs201107638 | 176 | R>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000022.11:g.37516145C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516145C>T Locations: - p.Arg176Gln (Ensembl:ENST00000251973) - c.527G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654458 rs765306970 | 176 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37516146G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516146G>A Locations: - p.Arg176Trp (Ensembl:ENST00000251973) - c.526C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs776524489 | 178 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516138C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516138C>G Locations: - p.Gln178His (Ensembl:ENST00000251973) - c.534G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1569168366 | 180 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37516133T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516133T>A Locations: - p.Gln180Leu (Ensembl:ENST00000251973) - c.539A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658500 | 182 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516128G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516128G>A Locations: - p.Q182* (NCI-TCGA:ENST00000251973) - p.Gln182Ter (cosmic curated:ENST00000251973) - c.544C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1329666723 | 183 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37516123C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516123C>G Locations: - p.Glu183Asp (Ensembl:ENST00000251973) - c.549G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655175 rs771075851 | 184 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37516122G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516122G>A Locations: - p.R184C (NCI-TCGA:ENST00000251973) - p.Arg184Cys (Ensembl:ENST00000251973) - c.550C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs747136933 | 184 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37516121C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516121C>T Locations: - p.Arg184His (Ensembl:ENST00000251973) - c.551G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs771075851 | 184 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516122G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516122G>T Locations: - p.Arg184Ser (Ensembl:ENST00000251973) - c.550C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52658191 | 185 | C>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516119A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516119A>G Locations: - p.Cys185Arg (cosmic curated:ENST00000251973) - c.553T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574661 | 186 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516116G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516116G>A Locations: - p.Gln186Ter (cosmic curated:ENST00000251973) - c.556C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655763 rs772415402 | 187 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000022.11:g.37516113G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516113G>A Locations: - p.Arg187Trp (Ensembl:ENST00000251973) - c.559C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs374447215 | 189 | R>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516107G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516107G>C Locations: - p.Arg189Gly (Ensembl:ENST00000251973) - c.565C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1470982641 | 189 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516106C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516106C>A Locations: - p.Arg189Leu (Ensembl:ENST00000251973) - c.566G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654591 rs1470982641 | 189 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.07) - PolyPhen: benign (0.164) - SIFT: tolerated (0.22) Somatic: Yes Population frequencies: - MAF: 0.00000933 (gnomAD) Accession: NC_000022.11:g.37516106C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516106C>T Locations: - p.R189Q (NCI-TCGA:ENST00000251973) - p.Arg189Gln (Ensembl:ENST00000251973) - c.566G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs374447215 | 189 | R>W | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516107G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516107G>A Locations: - p.Arg189Trp (Ensembl:ENST00000251973) - c.565C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs755426309 | 190 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516104C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516104C>T Locations: - p.Glu190Lys (Ensembl:ENST00000251973) - c.568G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1440664421 | 192 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000022.11:g.37516098A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516098A>G Locations: - p.Trp192Arg (Ensembl:ENST00000251973) - c.574T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs370280620 | 194 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37516091G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516091G>A Locations: - p.Ala194Val (Ensembl:ENST00000251973) - c.581C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923836471 | 195 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.337) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37516089C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516089C>G Locations: - p.Gly195Arg (Ensembl:ENST00000251973) - c.583G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095527 | 195 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516089C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516089C>T Locations: - p.Gly195Ser (cosmic curated:ENST00000251973) - c.583G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1281971136 | 197 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37516082A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516082A>C Locations: - p.Leu197Arg (Ensembl:ENST00000251973) - c.590T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1393490272 | 198 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516080C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516080C>T Locations: - p.Glu198Lys (Ensembl:ENST00000251973) - c.592G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs998294948 | 201 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516070C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516070C>T Locations: - p.Arg201Gln (Ensembl:ENST00000251973) - c.602G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658536 rs763873395 | 201 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37516071G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516071G>A Locations: - p.Arg201Trp (Ensembl:ENST00000251973) - c.601C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1347867810 | 202 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516068G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516068G>A Locations: - p.Leu202Phe (Ensembl:ENST00000251973) - c.604C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1163007887 | 204 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516061T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516061T>C Locations: - p.Asp204Gly (Ensembl:ENST00000251973) - c.611A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574640 | 204 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37516062C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37516062C>A Locations: - p.Asp204Tyr (cosmic curated:ENST00000251973) - c.610G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 208 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37516048C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516048C>A Locations: - c.624G>T (NCI-TCGA:ENST00000251973) - p.M208I (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs758236907 | 208 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37516050T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516050T>C Locations: - p.Met208Val (Ensembl:ENST00000251973) - c.622A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs189375741 | 209 | I>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000022.11:g.37516046A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516046A>T Locations: - p.Ile209Asn (Ensembl:ENST00000251973) - c.626T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs189375741 | 209 | I>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.405) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000022.11:g.37516046A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516046A>G Locations: - p.Ile209Thr (Ensembl:ENST00000251973) - c.626T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752589145 | 209 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37516047T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516047T>C Locations: - p.Ile209Val (Ensembl:ENST00000251973) - c.625A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1042147750 | 210 | A>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516044C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516044C>A Locations: - p.Ala210Ser (Ensembl:ENST00000251973) - c.628G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1042147750 | 210 | A>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516044C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516044C>T Locations: - p.Ala210Thr (Ensembl:ENST00000251973) - c.628G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs753821690 | 210 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516043G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516043G>A Locations: - p.Ala210Val (Ensembl:ENST00000251973) - c.629C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1163499248 | 211 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516040A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516040A>G Locations: - p.Met211Thr (Ensembl:ENST00000251973) - c.632T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1160459381 | 211 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516041T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516041T>C Locations: - p.Met211Val (Ensembl:ENST00000251973) - c.631A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760871700 | 212 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516038G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516038G>A Locations: - p.Arg212Cys (Ensembl:ENST00000251973) - c.634C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
CA16044149 COSV52660187 RCV000416607 rs1057519378 | 212 | R>H | Primary open angle glaucoma (ClinVar) | Risk factor (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000022.11:g.37516037C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516037C>T Locations: - p.Arg212His (Ensembl:ENST00000251973) - c.635G>A (Ensembl:ENST00000251973) Disease association: - Primary open angle glaucoma (POAG) Source type: large scale study | |||||||
rs1057519378 | 212 | R>L | Risk factor (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516037C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516037C>A Locations: - p.Arg212Leu (Ensembl:ENST00000251973) - c.635G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 214 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516032C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516032C>A Locations: - c.640G>T (NCI-TCGA:ENST00000251973) - p.A214S (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1336831480 | 214 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516031G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516031G>A Locations: - p.Ala214Val (Ensembl:ENST00000251973) - c.641C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs773306444 | 215 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37516027C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516027C>A Locations: - p.Gln215His (Ensembl:ENST00000251973) - c.645G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs772326004 | 217 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000022.11:g.37516023T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516023T>C Locations: - p.Ser217Gly (Ensembl:ENST00000251973) - c.649A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923833584 | 217 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37516022C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516022C>G Locations: - p.Ser217Thr (Ensembl:ENST00000251973) - c.650G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs572361893 | 218 | E>K | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37516020C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516020C>T Locations: - p.Glu218Lys (Ensembl:ENST00000251973) - c.652G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52659375 rs1448912343 | 220 | K>R | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37516013T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516013T>C Locations: - p.Lys220Arg (Ensembl:ENST00000251973) - c.659A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1285220336 | 221 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37516010T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516010T>C Locations: - p.Asn221Ser (Ensembl:ENST00000251973) - c.662A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs147151809 | 222 | S>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37516007G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516007G>A Locations: - p.Ser222Leu (Ensembl:ENST00000251973) - c.665C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs557486061 | 223 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37516005C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516005C>T Locations: - p.Ala223Thr (Ensembl:ENST00000251973) - c.667G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1295246748 | 224 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37516002C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37516002C>T Locations: - p.Val224Ile (Ensembl:ENST00000251973) - c.670G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655661 rs1234420327 | 226 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000009086 (gnomAD) Accession: NC_000022.11:g.37515996G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515996G>A Locations: - p.R226C (NCI-TCGA:ENST00000251973) - p.Arg226Cys (Ensembl:ENST00000251973) - c.676C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1234420327 | 226 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37515996G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515996G>C Locations: - p.Arg226Gly (Ensembl:ENST00000251973) - c.676C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1361901436 | 226 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37515995C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515995C>T Locations: - p.Arg226His (Ensembl:ENST00000251973) - c.677G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1268748333 | 227 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37515992C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515992C>A Locations: - p.Ser227Ile (Ensembl:ENST00000251973) - c.680G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs749698833 | 227 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37515991G>C, NC_000022.11:g.37515991G>T Codon: AGC/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515991G>C, NC_000022.11:g.37515991G>T Locations: - p.Ser227Arg (Ensembl:ENST00000251973) - c.681C>G (Ensembl:ENST00000251973) - c.681C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1046896416 | 228 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37515990G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515990G>A Locations: - p.Arg228Cys (Ensembl:ENST00000251973) - c.682C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657550 rs780666568 | 228 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001887 (gnomAD) Accession: NC_000022.11:g.37515989C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515989C>T Locations: - p.R228H (NCI-TCGA:ENST00000251973) - p.Arg228His (Ensembl:ENST00000251973) - c.683G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1046896416 | 228 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37515990G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515990G>T Locations: - p.Arg228Ser (Ensembl:ENST00000251973) - c.682C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1324790094 | 229 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37515985G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515985G>C Locations: - p.Asp229Glu (Ensembl:ENST00000251973) - c.687C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs921792306 | 229 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37515987C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515987C>G Locations: - p.Asp229His (Ensembl:ENST00000251973) - c.685G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145776998 | 231 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37515981G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515981G>A Locations: - p.Gln231Ter (Ensembl:ENST00000251973) - c.691C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs377447143 | 233 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000022.11:g.37515974G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37515974G>A Locations: - p.Ala233Val (Ensembl:ENST00000251973) - c.698C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs779732014 | 234 | V>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510420A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510420A>T Locations: - p.Val234Glu (Ensembl:ENST00000251973) - c.701T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs753710413 | 234 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37510421C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510421C>T Locations: - p.Val234Met (Ensembl:ENST00000251973) - c.700G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1027634661 | 235 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510417T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510417T>A Locations: - p.Asp235Val (Ensembl:ENST00000251973) - c.704A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324758 | 237 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510412G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37510412G>T Locations: - p.Leu237Ile (cosmic curated:ENST00000251973) - c.709C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs143511547 | 238 | K>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000022.11:g.37510408T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510408T>C Locations: - p.Lys238Arg (Ensembl:ENST00000251973) - c.713A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs143511547 | 238 | K>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.178) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000022.11:g.37510408T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510408T>G Locations: - p.Lys238Thr (Ensembl:ENST00000251973) - c.713A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1417898248 | 239 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37510405A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510405A>C Locations: - p.Leu239Arg (Ensembl:ENST00000251973) - c.716T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 240 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510402T>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510402T>A Locations: - c.719A>T (NCI-TCGA:ENST00000251973) - p.K240I (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs757018451 | 240 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000022.11:g.37510402T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510402T>C Locations: - p.Lys240Arg (Ensembl:ENST00000251973) - c.719A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs560170229 | 241 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37510400C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510400C>T Locations: - p.Val241Met (Ensembl:ENST00000251973) - c.721G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs150759948 | 243 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37510393C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510393C>A Locations: - p.Arg243Leu (Ensembl:ENST00000251973) - c.728G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs150759948 | 243 | R>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37510393C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510393C>G Locations: - p.Arg243Pro (Ensembl:ENST00000251973) - c.728G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs150759948 | 243 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000022.11:g.37510393C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510393C>T Locations: - p.Arg243Gln (Ensembl:ENST00000251973) - c.728G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs139571632 | 243 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.614) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37510394G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510394G>A Locations: - p.Arg243Trp (Ensembl:ENST00000251973) - c.727C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs200459797 | 246 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510384T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510384T>G Locations: - p.Glu246Ala (Ensembl:ENST00000251973) - c.737A>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs200045052 | 248 | C>R | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000022.11:g.37510379A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510379A>G Locations: - p.Cys248Arg (Ensembl:ENST00000251973) - c.742T>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52655030 rs200045052 | 248 | C>S | cosmic curated 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000022.11:g.37510378C>G, NC_000022.11:g.37510379A>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510378C>G, NC_000022.11:g.37510379A>T Locations: - p.Cys248Ser (cosmic curated:ENST00000251973) - c.743G>C (cosmic curated:ENST00000251973) - p.Cys248Ser (Ensembl:ENST00000251973) - c.742T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1436370589 | 248 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37510378C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510378C>T Locations: - p.Cys248Tyr (Ensembl:ENST00000251973) - c.743G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923595674 | 249 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000022.11:g.37510376C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510376C>T Locations: - p.Ala249Thr (Ensembl:ENST00000251973) - c.745G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs777292091 | 252 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37510367G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510367G>A Locations: - p.Arg252Ter (Ensembl:ENST00000251973) - c.754C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs777292091 | 252 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510367G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510367G>C Locations: - p.Arg252Gly (Ensembl:ENST00000251973) - c.754C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1177053530 | 252 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510366C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510366C>A Locations: - p.Arg252Leu (Ensembl:ENST00000251973) - c.755G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1177053530 | 252 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510366C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510366C>G Locations: - p.Arg252Pro (Ensembl:ENST00000251973) - c.755G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1177053530 | 252 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0.02) - PolyPhen: benign (0.095) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000004038 (gnomAD) Accession: NC_000022.11:g.37510366C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510366C>T Locations: - p.R252Q (NCI-TCGA:ENST00000251973) - p.Arg252Gln (Ensembl:ENST00000251973) - c.755G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1206795739 | 255 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000022.11:g.37510357C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510357C>G Locations: - p.Arg255Thr (Ensembl:ENST00000251973) - c.764G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs771698026 | 255 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37510358T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510358T>A Locations: - p.Arg255Trp (Ensembl:ENST00000251973) - c.763A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs747729629 | 256 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37510354C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510354C>T Locations: - p.Gly256Asp (Ensembl:ENST00000251973) - c.767G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659652 rs774120876 | 257 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000022.11:g.37510351G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510351G>A Locations: - p.Pro257Leu (Ensembl:ENST00000251973) - c.770C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs541633420 | 258 | P>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37510349G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510349G>C Locations: - p.Pro258Ala (Ensembl:ENST00000251973) - c.772C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656319 rs1209095407 | 258 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.79) Somatic: Yes Accession: NC_000022.11:g.37510348G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510348G>A Locations: - p.Pro258Leu (Ensembl:ENST00000251973) - c.773C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs541633420 | 258 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.57) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37510349G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510349G>A Locations: - p.Pro258Ser (Ensembl:ENST00000251973) - c.772C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748921099 | 259 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37510345G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510345G>C Locations: - p.Pro259Arg (Ensembl:ENST00000251973) - c.776C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923594218 | 259 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37510346G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510346G>A Locations: - p.Pro259Ser (Ensembl:ENST00000251973) - c.775C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104382279 | 260 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510342C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37510342C>T Locations: - p.Gly260Glu (cosmic curated:ENST00000251973) - c.779G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1308474681 | 261 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000022.11:g.37510340C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510340C>T Locations: - p.Ala261Thr (Ensembl:ENST00000251973) - c.781G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923593843 | 261 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000022.11:g.37510339G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510339G>A Locations: - p.Ala261Val (Ensembl:ENST00000251973) - c.782C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1223860936 | 262 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37510336T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510336T>C Locations: - p.Glu262Gly (Ensembl:ENST00000251973) - c.785A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659297 | 262 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510337C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37510337C>T Locations: - p.Glu262Lys (cosmic curated:ENST00000251973) - c.784G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923593569 | 264 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000022.11:g.37510331T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510331T>C Locations: - p.Lys264Glu (Ensembl:ENST00000251973) - c.790A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659894 | 264 | K>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510330T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37510330T>A Locations: - p.Lys264Met (cosmic curated:ENST00000251973) - c.791A>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs745789566 | 265 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000022.11:g.37510326C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510326C>G Locations: - p.Glu265Asp (Ensembl:ENST00000251973) - c.795G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs781170519 | 266 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37510324T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510324T>C Locations: - p.Lys266Arg (Ensembl:ENST00000251973) - c.797A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs757295933 | 267 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37510322C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510322C>A Locations: - p.Glu267Ter (Ensembl:ENST00000251973) - c.799G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923592325 | 269 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510315T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510315T>C Locations: - p.Glu269Gly (Ensembl:ENST00000251973) - c.806A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923592407 | 269 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510316C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510316C>T Locations: - p.Glu269Lys (Ensembl:ENST00000251973) - c.805G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs751686664 | 270 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37510311C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510311C>G Locations: - p.Lys270Asn (Ensembl:ENST00000251973) - c.810G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1343685144 | 270 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000022.11:g.37510312T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510312T>C Locations: - p.Lys270Arg (Ensembl:ENST00000251973) - c.809A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs764103672 | 271 | E>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000022.11:g.37510310C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510310C>G Locations: - p.Glu271Gln (Ensembl:ENST00000251973) - c.811G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1476494642 | 272 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000022.11:g.37510305C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510305C>G Locations: - p.Lys272Asn (Ensembl:ENST00000251973) - c.816G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658642 rs998070657 | 272 | K>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.26) Somatic: Yes Accession: NC_000022.11:g.37510307T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510307T>G Locations: - p.Lys272Gln (Ensembl:ENST00000251973) - c.814A>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52658631 | 272 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510306T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37510306T>G Locations: - p.Lys272Thr (cosmic curated:ENST00000251973) - c.815A>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 272-273 | KE>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: insertion Somatic: No Accession: NC_000022.11:g.37510302_37510303insTCCTTT Consequence type: insertion Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510302_37510303insTCCTTT Locations: - c.818_819insAAAGGA (NCI-TCGA:ENST00000251973) - p.K272_E273dup (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1923589863 | 274 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37510301G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510301G>T Locations: - p.Pro274Thr (Ensembl:ENST00000251973) - c.820C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660205 rs758606700 | 275 | D>G | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000022.11:g.37510297T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510297T>C Locations: - p.Asp275Gly (Ensembl:ENST00000251973) - c.824A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923589675 | 275 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37510298C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510298C>T Locations: - p.Asp275Asn (Ensembl:ENST00000251973) - c.823G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs759878546 | 277 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000022.11:g.37510291A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510291A>G Locations: - p.Val277Ala (Ensembl:ENST00000251973) - c.830T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324808 | 277 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000022.11:g.37510292C>G Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510292C>G Locations: - p.V277L (NCI-TCGA:ENST00000251973) - p.Val277Leu (cosmic curated:ENST00000251973) - c.829G>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs765580402 | 277 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000022.11:g.37510292C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510292C>T Locations: - p.Val277Met (Ensembl:ENST00000251973) - c.829G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325221 | 279 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000022.11:g.37510286G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510286G>A Locations: - p.L279F (NCI-TCGA:ENST00000251973) - p.Leu279Phe (cosmic curated:ENST00000251973) - c.835C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs767037189 | 279 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000022.11:g.37510286G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510286G>T Locations: - p.Leu279Ile (Ensembl:ENST00000251973) - c.835C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs767037189 | 279 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000022.11:g.37510286G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510286G>C Locations: - p.Leu279Val (Ensembl:ENST00000251973) - c.835C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1380316525 | 280 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000022.11:g.37510283C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510283C>T Locations: - p.Val280Ile (Ensembl:ENST00000251973) - c.838G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1484153544 | 281 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37510279G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510279G>C Locations: - p.Ser281Cys (Ensembl:ENST00000251973) - c.842C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1251510008 | 282 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510276T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510276T>C Locations: - p.Glu282Gly (Ensembl:ENST00000251973) - c.845A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99067136 rs371898322 | 284 | R>C | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37510271G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510271G>A Locations: - p.Arg284Cys (Ensembl:ENST00000251973) - c.850C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654467 rs200768346 | 284 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious (0.04) - PolyPhen: benign (0.208) - SIFT: tolerated (0.19) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000022.11:g.37510270C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510270C>T Locations: - p.R284H (NCI-TCGA:ENST00000251973) - p.Arg284His (Ensembl:ENST00000251973) - c.851G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs897818107 | 285 | A>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37510267G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510267G>C Locations: - p.Ala285Gly (Ensembl:ENST00000251973) - c.854C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923587656 | 287 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510260G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510260G>C Locations: - p.Asn287Lys (Ensembl:ENST00000251973) - c.861C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601817119 | 287 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37510261T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510261T>G Locations: - p.Asn287Thr (Ensembl:ENST00000251973) - c.860A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
VAR_028116 COSV52655956 rs9610775 | 289 | R>Q | Benign (Ensembl) | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510255C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510255C>T Locations: - p.Arg289Gln (UniProt:Q9BWT7) Source type: mixed | |||||||
COSV52655294 rs768052242 | 289 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: deleterious (0.02) - PolyPhen: possibly damaging (0.741) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00003335 (gnomAD) Accession: NC_000022.11:g.37510256G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510256G>A Locations: - p.R289W (NCI-TCGA:ENST00000251973) - p.Arg289Trp (Ensembl:ENST00000251973) - c.865C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs775059469 | 291 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000022.11:g.37510250T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510250T>C Locations: - p.Thr291Ala (Ensembl:ENST00000251973) - c.871A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs769625750 | 291 | T>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000022.11:g.37510249G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510249G>T Locations: - p.Thr291Lys (Ensembl:ENST00000251973) - c.872C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656920 rs769625750 | 291 | T>M | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000022.11:g.37510249G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510249G>A Locations: - p.Thr291Met (Ensembl:ENST00000251973) - c.872C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs781085817 | 292 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37510247C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510247C>A Locations: - p.Ala292Ser (Ensembl:ENST00000251973) - c.874G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1467793360 | 292 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.33) - PolyPhen: benign (0.134) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000004196 (gnomAD) Accession: NC_000022.11:g.37510246G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510246G>A Locations: - p.A292V (NCI-TCGA:ENST00000251973) - p.Ala292Val (Ensembl:ENST00000251973) - c.875C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656031 | 293 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510243G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37510243G>A Locations: - p.Ser293Leu (cosmic curated:ENST00000251973) - c.878C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs746980534 | 295 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37510237C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510237C>T Locations: - p.Arg295Gln (Ensembl:ENST00000251973) - c.884G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1215053937 | 295 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37510238G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510238G>A Locations: - p.Arg295Trp (Ensembl:ENST00000251973) - c.883C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923585689 | 297 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37510230C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510230C>A Locations: - p.Leu297Phe (Ensembl:ENST00000251973) - c.891G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1225221839 | 298 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37510227C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510227C>A Locations: - p.Gln298His (Ensembl:ENST00000251973) - c.894G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52661285 | 299 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37510226C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37510226C>A Locations: - p.Glu299Ter (cosmic curated:ENST00000251973) - c.895G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923585518 | 299 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000022.11:g.37510225T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510225T>C Locations: - p.Glu299Gly (Ensembl:ENST00000251973) - c.896A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923585384 | 300 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000022.11:g.37510222C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37510222C>T Locations: - p.Gly300Asp (Ensembl:ENST00000251973) - c.899G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654133 | 304 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37508680C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37508680C>A Locations: - p.Glu304Asp (cosmic curated:ENST00000251973) - c.912G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1268887776 | 304 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000022.11:g.37508682C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508682C>T Locations: - p.Glu304Lys (Ensembl:ENST00000251973) - c.910G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1268887776 | 304 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000022.11:g.37508682C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508682C>G Locations: - p.Glu304Gln (Ensembl:ENST00000251973) - c.910G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762501467 | 305 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000022.11:g.37508678G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508678G>C Locations: - p.Ala305Gly (Ensembl:ENST00000251973) - c.914C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52659099 | 305 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000022.11:g.37508679C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508679C>T Locations: - p.A305T (NCI-TCGA:ENST00000251973) - p.Ala305Thr (cosmic curated:ENST00000251973) - c.913G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762501467 | 305 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000022.11:g.37508678G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508678G>A Locations: - p.Ala305Val (Ensembl:ENST00000251973) - c.914C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs771502156 | 307 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000022.11:g.37508673G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508673G>C Locations: - p.Arg307Gly (Ensembl:ENST00000251973) - c.919C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs368309693 | 307 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000022.11:g.37508672C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508672C>T Locations: - p.Arg307Gln (Ensembl:ENST00000251973) - c.920G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs771502156 | 307 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508673G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508673G>A Locations: - p.Arg307Trp (Ensembl:ENST00000251973) - c.919C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs201477949 | 308 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000022.11:g.37508669G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508669G>A Locations: - p.Pro308Leu (Ensembl:ENST00000251973) - c.923C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs201477949 | 308 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.34) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000022.11:g.37508669G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508669G>C Locations: - p.Pro308Arg (Ensembl:ENST00000251973) - c.923C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1458526362 | 309 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508666C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508666C>A Locations: - p.Gly309Val (Ensembl:ENST00000251973) - c.926G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1569166135 | 310 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37508663G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508663G>T Locations: - p.Ala310Asp (Ensembl:ENST00000251973) - c.929C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574628 | 310 | A>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37508664C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37508664C>G Locations: - p.Ala310Pro (cosmic curated:ENST00000251973) - c.928G>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1272531097 | 310 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37508664C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508664C>T Locations: - p.Ala310Thr (Ensembl:ENST00000251973) - c.928G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105866744 rs760532902 | 311 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37508660G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508660G>A Locations: - p.Pro311Leu (Ensembl:ENST00000251973) - c.932C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760532902 | 311 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508660G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508660G>T Locations: - p.Pro311Gln (Ensembl:ENST00000251973) - c.932C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923501142 | 311 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37508661G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508661G>A Locations: - p.Pro311Ser (Ensembl:ENST00000251973) - c.931C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1415876884 | 312 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37508658C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508658C>T Locations: - p.Gly312Ser (Ensembl:ENST00000251973) - c.934G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748143318 | 314 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37508652C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508652C>T Locations: - p.Glu314Lys (Ensembl:ENST00000251973) - c.940G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748143318 | 314 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37508652C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508652C>G Locations: - p.Glu314Gln (Ensembl:ENST00000251973) - c.940G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV108042639 | 314 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37508651T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37508651T>A Locations: - p.Glu314Val (cosmic curated:ENST00000251973) - c.941A>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs199796526 | 315 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37508649G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508649G>A Locations: - p.Arg315Cys (Ensembl:ENST00000251973) - c.943C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325020 rs768866452 | 315 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37508648C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508648C>T Locations: - p.Arg315His (Ensembl:ENST00000251973) - c.944G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1466459183 | 316 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37508646T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508646T>C Locations: - p.Ile316Val (Ensembl:ENST00000251973) - c.946A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1490158058 | 317 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.51) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508643G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508643G>T Locations: - p.Leu317Met (Ensembl:ENST00000251973) - c.949C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1490158058 | 317 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508643G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508643G>C Locations: - p.Leu317Val (Ensembl:ENST00000251973) - c.949C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs749505062 | 320 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508633A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508633A>G Locations: - p.Ile320Thr (Ensembl:ENST00000251973) - c.959T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923499470 | 322 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37508628C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508628C>A Locations: - p.Glu322Ter (Ensembl:ENST00000251973) - c.964G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1333258306 | 325 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37508618C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508618C>T Locations: - p.Trp325Ter (Ensembl:ENST00000251973) - c.974G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs780487593 | 326 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37508615C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508615C>G Locations: - p.Arg326Pro (Ensembl:ENST00000251973) - c.977G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs780487593 | 326 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000022.11:g.37508615C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508615C>T Locations: - p.Arg326Gln (Ensembl:ENST00000251973) - c.977G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52655740 rs1292631266 | 326 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.328) - SIFT: deleterious (0) - PolyPhen: benign (0.324) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000009437 (gnomAD) Accession: NC_000022.11:g.37508616G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508616G>A Locations: - p.R326W (NCI-TCGA:ENST00000251973) - p.Arg326Trp (Ensembl:ENST00000251973) - c.976C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1339105646 | 327 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37508612T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508612T>C Locations: - p.Glu327Gly (Ensembl:ENST00000251973) - c.980A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
CA10220005 COSV104574663 RCV000416609 rs139006752 | 328 | A>V | Primary open angle glaucoma (ClinVar) | Risk factor (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.0016 (ClinVar) Accession: NC_000022.11:g.37508609G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508609G>A Locations: - p.Ala328Val (Ensembl:ENST00000251973) - c.983C>T (Ensembl:ENST00000251973) Disease association: - Primary open angle glaucoma (POAG) Source type: large scale study | |||||||
rs1055399764 | 329 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37508606T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508606T>C Locations: - p.Gln329Arg (Ensembl:ENST00000251973) - c.986A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923498012 | 330 | D>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508604C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508604C>G Locations: - p.Asp330His (Ensembl:ENST00000251973) - c.988G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923497816 | 333 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508594T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508594T>C Locations: - p.Gln333Arg (Ensembl:ENST00000251973) - c.998A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1417099500 | 335 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508588A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508588A>G Locations: - p.Leu335Pro (Ensembl:ENST00000251973) - c.1004T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105866774 | 336 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37508585C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37508585C>T Locations: - p.Cys336Tyr (cosmic curated:ENST00000251973) - c.1007G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 338 | K>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000022.11:g.37508578del Consequence type: frameshift Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508578del Locations: - c.1014del (NCI-TCGA:ENST00000251973) - p.K338Nfs*97 (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1193305495 | 341 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37508570G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508570G>C Locations: - p.Ala341Gly (Ensembl:ENST00000251973) - c.1022C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs757664910 | 341 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000022.11:g.37508571C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508571C>T Locations: - p.Ala341Thr (Ensembl:ENST00000251973) - c.1021G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
CA10220000 RCV000416610 rs200148764 | 342 | V>M | Primary open angle glaucoma (ClinVar) | Risk factor (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.001 (ClinVar) Accession: NC_000022.11:g.37508568C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508568C>T Locations: - p.Val342Met (Ensembl:ENST00000251973) - c.1024G>A (Ensembl:ENST00000251973) Disease association: - Primary open angle glaucoma (POAG) Source type: large scale study | |||||||
rs754542141 | 343 | Q>H | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37508563C>A, NC_000022.11:g.37508563C>G Codon: CAG/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508563C>A, NC_000022.11:g.37508563C>G Locations: - p.Gln343His (Ensembl:ENST00000251973) - c.1029G>T (Ensembl:ENST00000251973) - c.1029G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs978855885 | 344 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37508562C>T, NC_000022.11:g.37508562C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508562C>T, NC_000022.11:g.37508562C>G Locations: - p.Gly344Arg (Ensembl:ENST00000251973) - c.1030G>A (Ensembl:ENST00000251973) - c.1030G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs978855885 | 344 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508562C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508562C>A Locations: - p.Gly344Trp (Ensembl:ENST00000251973) - c.1030G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1437788085 | 345 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508559C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508559C>T Locations: - p.Glu345Lys (Ensembl:ENST00000251973) - c.1033G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs145660506 | 347 | Q>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37508552T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508552T>C Locations: - p.Gln347Arg (Ensembl:ENST00000251973) - c.1040A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs766062665 | 348 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37508549C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508549C>T Locations: - p.Trp348Ter (Ensembl:ENST00000251973) - c.1043G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99325002 | 350 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37508544C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37508544C>A Locations: - p.Glu350Ter (cosmic curated:ENST00000251973) - c.1048G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923495911 | 350 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508543T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508543T>G Locations: - p.Glu350Ala (Ensembl:ENST00000251973) - c.1049A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1231703782 | 350 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508544C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508544C>T Locations: - p.Glu350Lys (Ensembl:ENST00000251973) - c.1048G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs772838318 | 353 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508535G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508535G>A Locations: - p.Arg353Cys (Ensembl:ENST00000251973) - c.1057C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs767381001 | 353 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001781 (gnomAD) Accession: NC_000022.11:g.37508534C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508534C>T Locations: - p.R353H (NCI-TCGA:ENST00000251973) - p.Arg353His (Ensembl:ENST00000251973) - c.1058G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768848343 | 354 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.607) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37508532C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508532C>T Locations: - p.Asp354Asn (Ensembl:ENST00000251973) - c.1060G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923495046 | 354 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508531T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508531T>A Locations: - p.Asp354Val (Ensembl:ENST00000251973) - c.1061A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768848343 | 354 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508532C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508532C>A Locations: - p.Asp354Tyr (Ensembl:ENST00000251973) - c.1060G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1430154090 | 355 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37508529G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508529G>T Locations: - p.Gln355Lys (Ensembl:ENST00000251973) - c.1063C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs749417199 | 355 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37508528T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37508528T>G Locations: - p.Gln355Pro (Ensembl:ENST00000251973) - c.1064A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs908728394 | 357 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507951G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507951G>T Locations: - p.Leu357Met (Ensembl:ENST00000251973) - c.1069C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1161485591 | 359 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37507943C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507943C>A Locations: - p.Glu359Asp (Ensembl:ENST00000251973) - c.1077G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs376261116 | 361 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507939C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507939C>G Locations: - p.Glu361Gln (Ensembl:ENST00000251973) - c.1081G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52659180 | 362 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37507934G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37507934G>T Locations: - p.Asp362Glu (cosmic curated:ENST00000251973) - c.1086C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923470928 | 362 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.583) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507936C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507936C>G Locations: - p.Asp362His (Ensembl:ENST00000251973) - c.1084G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs533969301 | 363 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507933G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507933G>C Locations: - p.Leu363Val (Ensembl:ENST00000251973) - c.1087C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs199557110 | 364 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37507929C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507929C>T Locations: - p.Arg364Gln (Ensembl:ENST00000251973) - c.1091G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs184229951 | 364 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37507930G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507930G>A Locations: - p.Arg364Trp (Ensembl:ENST00000251973) - c.1090C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748687860 | 365 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507927G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507927G>A Locations: - p.Leu365Phe (Ensembl:ENST00000251973) - c.1093C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923469880 | 366 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37507924T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507924T>G Locations: - p.Lys366Gln (Ensembl:ENST00000251973) - c.1096A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs779476442 | 368 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37507918G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507918G>A Locations: - p.Arg368Cys (Ensembl:ENST00000251973) - c.1102C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52659030 rs150236189 | 368 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: tolerated (0.08) - PolyPhen: possibly damaging (0.508) - SIFT: deleterious (0.05) Somatic: Yes Population frequencies: - MAF: 0.00001989 (gnomAD) Accession: NC_000022.11:g.37507917C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507917C>T Locations: - p.R368H (NCI-TCGA:ENST00000251973) - p.Arg368His (Ensembl:ENST00000251973) - c.1103G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs573923792 | 369 | T>M | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37507914G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507914G>A Locations: - p.Thr369Met (Ensembl:ENST00000251973) - c.1106C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659135 | 373 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37507901G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37507901G>T Locations: - p.Asp373Glu (cosmic curated:ENST00000251973) - c.1119C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658579 | 373 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37507903C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37507903C>A Locations: - p.Asp373Tyr (cosmic curated:ENST00000251973) - c.1117G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1334002130 | 374 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507900A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507900A>G Locations: - p.Cys374Arg (Ensembl:ENST00000251973) - c.1120T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1263599676 | 375 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507897C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507897C>G Locations: - p.Asp375His (Ensembl:ENST00000251973) - c.1123G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324860 | 376 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37507894G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37507894G>T Locations: - p.Leu376Met (cosmic curated:ENST00000251973) - c.1126C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1246991502 | 376 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507893A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507893A>G Locations: - p.Leu376Pro (Ensembl:ENST00000251973) - c.1127T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1322066454 | 377 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.59) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000022.11:g.37507891A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507891A>G Locations: - p.Y377H (NCI-TCGA:ENST00000251973) - p.Tyr377His (Ensembl:ENST00000251973) - c.1129T>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs764010858 | 379 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37507885G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507885G>C Locations: - p.His379Asp (Ensembl:ENST00000251973) - c.1135C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs764010858 | 379 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37507885G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507885G>T Locations: - p.His379Asn (Ensembl:ENST00000251973) - c.1135C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325140 rs762915999 | 380 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000022.11:g.37507882G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507882G>A Locations: - p.R380C (NCI-TCGA:ENST00000251973) - p.Arg380Cys (Ensembl:ENST00000251973) - c.1138C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1363325325 | 380 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000022.11:g.37507881C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507881C>T Locations: - p.R380H (NCI-TCGA:ENST00000251973) - p.Arg380His (Ensembl:ENST00000251973) - c.1139G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1363325325 | 380 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507881C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507881C>A Locations: - p.Arg380Leu (Ensembl:ENST00000251973) - c.1139G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923467252 | 381 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37507877C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507877C>A Locations: - p.Met381Ile (Ensembl:ENST00000251973) - c.1143G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752695269 | 381 | M>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507879T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507879T>C Locations: - p.Met381Val (Ensembl:ENST00000251973) - c.1141A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
RCV000958215 RCV003915966 rs61746683 | 382 | A>T | CARD10-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.14) Somatic: No Population frequencies: - MAF: 0.01138 (ClinVar) - MAF: 0.0111852 (1000Genomes) Accession: NC_000022.11:g.37507876C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507876C>T Locations: - p.Ala382Thr (Ensembl:ENST00000251973) - c.1144G>A (Ensembl:ENST00000251973) Disease association: - CARD10-related disorder Source type: large scale study | |||||||
rs758216874 | 382 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37507875G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507875G>A Locations: - p.Ala382Val (Ensembl:ENST00000251973) - c.1145C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs776687884 | 383 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507872G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507872G>A Locations: - p.Thr383Ile (Ensembl:ENST00000251973) - c.1148C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs776687884 | 383 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507872G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507872G>C Locations: - p.Thr383Ser (Ensembl:ENST00000251973) - c.1148C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs760911423 | 384 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37507870C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507870C>T Locations: - p.Val384Ile (Ensembl:ENST00000251973) - c.1150G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs760911423 | 384 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.13) - PolyPhen: benign (0.057) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000022.11:g.37507870C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507870C>G Locations: - p.V384L (NCI-TCGA:ENST00000251973) - p.Val384Leu (Ensembl:ENST00000251973) - c.1150G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs772433943 | 386 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37507863G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507863G>T Locations: - p.Ala386Asp (Ensembl:ENST00000251973) - c.1157C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105866753 rs772433943 | 386 | A>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000022.11:g.37507863G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507863G>A Locations: - p.Ala386Val (Ensembl:ENST00000251973) - c.1157C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923465995 | 389 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37507854T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507854T>A Locations: - p.Glu389Val (Ensembl:ENST00000251973) - c.1166A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656761 rs866057374 | 390 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious (0) - PolyPhen: benign (0.129) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37507852C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507852C>T Locations: - p.E390K (NCI-TCGA:ENST00000251973) - p.Glu390Lys (Ensembl:ENST00000251973) - c.1168G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs769186770 | 391 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious (0) - PolyPhen: benign (0.178) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00002785 (gnomAD) Accession: NC_000022.11:g.37507848A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507848A>G Locations: - p.I391T (NCI-TCGA:ENST00000251973) - p.Ile391Thr (Ensembl:ENST00000251973) - c.1172T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923465707 | 391 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000022.11:g.37507849T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507849T>C Locations: - p.Ile391Val (Ensembl:ENST00000251973) - c.1171A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324623 | 392 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37507844C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507844C>A Locations: - p.E392D (NCI-TCGA:ENST00000251973) - p.Glu392Asp (cosmic curated:ENST00000251973) - c.1176G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs569862112 | 392 | E>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37507845T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507845T>C Locations: - p.Glu392Gly (Ensembl:ENST00000251973) - c.1175A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs780584003 | 394 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37507840C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507840C>G Locations: - p.Glu394Gln (Ensembl:ENST00000251973) - c.1180G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs988032819 | 395 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37507837G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507837G>A Locations: - p.Arg395Ter (Ensembl:ENST00000251973) - c.1183C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325484 rs756869184 | 395 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000022.11:g.37507836C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507836C>T Locations: - p.Arg395Gln (Ensembl:ENST00000251973) - c.1184G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658073 | 397 | Q>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37507831G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37507831G>C Locations: - p.Gln397Glu (cosmic curated:ENST00000251973) - c.1189C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1217040328 | 397 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37507830T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37507830T>A Locations: - p.Gln397Leu (Ensembl:ENST00000251973) - c.1190A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs571879481 | 398 | A>G | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37506382G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506382G>C Locations: - p.Ala398Gly (Ensembl:ENST00000251973) - c.1193C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs571879481 | 398 | A>V | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37506382G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506382G>A Locations: - p.Ala398Val (Ensembl:ENST00000251973) - c.1193C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs778583764 | 399 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506379A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506379A>G Locations: - p.Ile399Thr (Ensembl:ENST00000251973) - c.1196T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657791 | 401 | S>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37506372G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37506372G>T Locations: - p.Ser401Arg (cosmic curated:ENST00000251973) - c.1203C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs553675855 | 402 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37506371G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506371G>A Locations: - p.Arg402Cys (Ensembl:ENST00000251973) - c.1204C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657963 rs199929114 | 402 | R>H | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37506370C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506370C>T Locations: - p.Arg402His (Ensembl:ENST00000251973) - c.1205G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs199929114 | 402 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37506370C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506370C>A Locations: - p.Arg402Leu (Ensembl:ENST00000251973) - c.1205G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654391 | 403 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37506368C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506368C>A Locations: - p.D403Y (NCI-TCGA:ENST00000251973) - p.Asp403Tyr (cosmic curated:ENST00000251973) - c.1207G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660767 rs1362779928 | 404 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: tolerated (0.51) Somatic: Yes Accession: NC_000022.11:g.37506364C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506364C>T Locations: - p.Arg404Gln (Ensembl:ENST00000251973) - c.1211G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
CA10219908 COSV52655130 RCV000416606 rs750643216 | 404 | R>W | Primary open angle glaucoma (ClinVar) | Risk factor (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000022.11:g.37506365G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506365G>A Locations: - p.Arg404Trp (Ensembl:ENST00000251973) - c.1210C>T (Ensembl:ENST00000251973) Disease association: - Primary open angle glaucoma (POAG) Source type: large scale study | |||||||
COSV99324983 rs762039457 | 408 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00000414 (gnomAD) Accession: NC_000022.11:g.37506353G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506353G>A Locations: - p.Q408* (NCI-TCGA:ENST00000251973) - p.Gln408Ter (Ensembl:ENST00000251973) - c.1222C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1252226921 | 408 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37506352T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506352T>C Locations: - p.Gln408Arg (Ensembl:ENST00000251973) - c.1223A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs774713316 | 412 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506339G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506339G>C Locations: - p.Ser412Arg (Ensembl:ENST00000251973) - c.1236C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs996273443 | 415 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37506332C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506332C>T Locations: - p.Glu415Lys (Ensembl:ENST00000251973) - c.1243G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923407475 | 419 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506319T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506319T>C Locations: - p.Tyr419Cys (Ensembl:ENST00000251973) - c.1256A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659535 | 419 | Y>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37506320A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37506320A>G Locations: - p.Tyr419His (cosmic curated:ENST00000251973) - c.1255T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
VAR_086467 RCV001787025 rs748488870 | 420 | R>C | IMD89; uncertain significance; decreased protein expression compared to wild type when transfected in HEK293T cells (UniProt) Immunodeficiency 89 and autoimmunity (ClinVar) | Pathogenic (Ensembl, ClinVar) | UniProt ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506317G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506317G>A Locations: - p.Arg420Cys (Ensembl:ENST00000251973) - c.1258C>T (Ensembl:ENST00000251973) - p.Arg420Cys (UniProt:Q9BWT7) Disease association: - Immunodeficiency 89 and autoimmunity - Immunodeficiency 89 and autoimmunity (IMD89) Source type: mixed Cross-references: | |||||||
rs748488870 | 420 | R>G | Pathogenic (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506317G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506317G>C Locations: - p.Arg420Gly (Ensembl:ENST00000251973) - c.1258C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1267645541 | 420 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004048 (gnomAD) Accession: NC_000022.11:g.37506316C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506316C>T Locations: - p.R420H (NCI-TCGA:ENST00000251973) - p.Arg420His (Ensembl:ENST00000251973) - c.1259G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1267645541 | 420 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506316C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506316C>A Locations: - p.Arg420Leu (Ensembl:ENST00000251973) - c.1259G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1352895818 | 421 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506314T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506314T>C Locations: - p.Lys421Glu (Ensembl:ENST00000251973) - c.1261A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs770534769 | 423 | V>M | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37506308C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506308C>T Locations: - p.Val423Met (Ensembl:ENST00000251973) - c.1267G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs372472560 | 424 | R>Q | Variant of uncertain significance (Ensembl) | ESP TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506304C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506304C>T Locations: - p.Arg424Gln (Ensembl:ENST00000251973) - c.1271G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52658268 rs1447778516 | 424 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37506305G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506305G>A Locations: - p.Arg424Trp (Ensembl:ENST00000251973) - c.1270C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1332998819 | 425 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37506301C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506301C>A Locations: - p.Gly425Val (Ensembl:ENST00000251973) - c.1274G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs746583524 | 427 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506296C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506296C>T Locations: - p.Glu427Lys (Ensembl:ENST00000251973) - c.1279G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs746583524 | 427 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37506296C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506296C>G Locations: - p.Glu427Gln (Ensembl:ENST00000251973) - c.1279G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1396288669 | 428 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37506293C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506293C>T Locations: - p.Ala428Thr (Ensembl:ENST00000251973) - c.1282G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs367893893 | 428 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37506292G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506292G>A Locations: - p.Ala428Val (Ensembl:ENST00000251973) - c.1283C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1458688182 | 429 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000022.11:g.37506290C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506290C>T Locations: - p.Glu429Lys (Ensembl:ENST00000251973) - c.1285G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1412639340 | 430 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37506286C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506286C>T Locations: - p.Arg430Gln (Ensembl:ENST00000251973) - c.1289G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1047631921 | 430 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506287G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506287G>A Locations: - p.Arg430Trp (Ensembl:ENST00000251973) - c.1288C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs778727071 | 431 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506283T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506283T>C Locations: - p.Asp431Gly (Ensembl:ENST00000251973) - c.1292A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs367669690 | 431 | D>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506284C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506284C>T Locations: - p.Asp431Asn (Ensembl:ENST00000251973) - c.1291G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs778727071 | 431 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37506283T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506283T>A Locations: - p.Asp431Val (Ensembl:ENST00000251973) - c.1292A>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs367669690 | 431 | D>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506284C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506284C>A Locations: - p.Asp431Tyr (Ensembl:ENST00000251973) - c.1291G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1379155025 | 432 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37506279C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506279C>G Locations: - p.Glu432Asp (Ensembl:ENST00000251973) - c.1296G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 432 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.563) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506280T>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506280T>C Locations: - c.1295A>G (NCI-TCGA:ENST00000251973) - p.E432G (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs754748893 | 435 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000022.11:g.37506271G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506271G>A Locations: - p.Thr435Ile (Ensembl:ENST00000251973) - c.1304C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325326 rs201397783 | 436 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.04) - PolyPhen: benign (0.006) - SIFT: deleterious (0.04) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000022.11:g.37506268G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506268G>A Locations: - p.T436M (NCI-TCGA:ENST00000251973) - p.Thr436Met (Ensembl:ENST00000251973) - c.1307C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1287361033 | 436 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37506269T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506269T>A Locations: - p.Thr436Ser (Ensembl:ENST00000251973) - c.1306A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654250 | 438 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37506262G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37506262G>A Locations: - p.Thr438Ile (cosmic curated:ENST00000251973) - c.1313C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601814450 | 438 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37506263T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506263T>G Locations: - p.Thr438Pro (Ensembl:ENST00000251973) - c.1312A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1923404276 | 439 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious (0.01) - PolyPhen: benign (0.038) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37506260T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506260T>C Locations: - p.S439G (NCI-TCGA:ENST00000251973) - p.Ser439Gly (Ensembl:ENST00000251973) - c.1315A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1247447961 | 439 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37506259C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506259C>A Locations: - p.Ser439Ile (Ensembl:ENST00000251973) - c.1316G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1247447961 | 439 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37506259C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506259C>T Locations: - p.Ser439Asn (Ensembl:ENST00000251973) - c.1316G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1489341185 | 441 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506254C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506254C>G Locations: - p.Glu441Gln (Ensembl:ENST00000251973) - c.1321G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923403838 | 441 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506253T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506253T>A Locations: - p.Glu441Val (Ensembl:ENST00000251973) - c.1322A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 442 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.37506250C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506250C>T Locations: - c.1325G>A (NCI-TCGA:ENST00000251973) - p.G442D (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs948109521 | 442 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506250C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506250C>A Locations: - p.Gly442Val (Ensembl:ENST00000251973) - c.1325G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923403588 | 443 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000022.11:g.37506248T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506248T>A Locations: - p.Thr443Ser (Ensembl:ENST00000251973) - c.1327A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658100 | 444 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37506243C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37506243C>A Locations: - p.Lys444Asn (cosmic curated:ENST00000251973) - c.1332G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1199153035 | 444 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.69) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000022.11:g.37506244T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506244T>C Locations: - p.Lys444Arg (Ensembl:ENST00000251973) - c.1331A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1331761193 | 445 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37506242C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506242C>G Locations: - p.Ala445Pro (Ensembl:ENST00000251973) - c.1333G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 446 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.347) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37506238A>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506238A>C Locations: - c.1337T>G (NCI-TCGA:ENST00000251973) - p.L446R (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1923403117 | 448 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37506231C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506231C>G Locations: - p.Glu448Asp (Ensembl:ENST00000251973) - c.1344G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923403020 | 449 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37506229A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506229A>G Locations: - p.Val449Ala (Ensembl:ENST00000251973) - c.1346T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923402549 | 450 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506225C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506225C>G Locations: - p.Gln450His (Ensembl:ENST00000251973) - c.1350G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923402662 | 450 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000022.11:g.37506227G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506227G>T Locations: - p.Gln450Lys (Ensembl:ENST00000251973) - c.1348C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs764497951 | 452 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37506220T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506220T>C Locations: - p.Gln452Arg (Ensembl:ENST00000251973) - c.1355A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs796183854 | 453 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37506217C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506217C>T Locations: - p.Arg453Gln (Ensembl:ENST00000251973) - c.1358G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1364015010 | 453 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506218G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506218G>A Locations: - p.Arg453Trp (Ensembl:ENST00000251973) - c.1357C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs776060684 | 454 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000022.11:g.37506215C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506215C>A Locations: - p.Ala454Ser (Ensembl:ENST00000251973) - c.1360G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs776060684 | 454 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37506215C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506215C>T Locations: - p.Ala454Thr (Ensembl:ENST00000251973) - c.1360G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660468 rs1322780158 | 454 | A>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000022.11:g.37506214G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506214G>A Locations: - p.Ala454Val (Ensembl:ENST00000251973) - c.1361C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654272 | 455 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37506210C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37506210C>A Locations: - p.Gln455His (cosmic curated:ENST00000251973) - c.1365G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs765902502 | 455 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.857) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37506211T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506211T>G Locations: - p.Gln455Pro (Ensembl:ENST00000251973) - c.1364A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760133266 | 456 | G>A | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37506208C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506208C>G Locations: - p.Gly456Ala (Ensembl:ENST00000251973) - c.1367G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760133266 | 456 | G>D | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37506208C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506208C>T Locations: - p.Gly456Asp (Ensembl:ENST00000251973) - c.1367G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760133266 | 456 | G>V | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37506208C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506208C>A Locations: - p.Gly456Val (Ensembl:ENST00000251973) - c.1367G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs761476671 | 458 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.91) Somatic: No Accession: NC_000022.11:g.37506203T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506203T>C Locations: - p.Thr458Ala (Ensembl:ENST00000251973) - c.1372A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52657647 rs761476671 | 458 | T>P | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: Yes Accession: NC_000022.11:g.37506203T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506203T>G Locations: - p.Thr458Pro (Ensembl:ENST00000251973) - c.1372A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923400456 | 461 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37506194T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37506194T>C Locations: - p.Lys461Glu (Ensembl:ENST00000251973) - c.1381A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325332 | 461 | K>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37506194T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37506194T>G Locations: - p.Lys461Gln (cosmic curated:ENST00000251973) - c.1381A>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs771039211 | 462 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000022.11:g.37504769C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504769C>T Locations: - p.Ala462Thr (Ensembl:ENST00000251973) - c.1384G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs3817806 | 463 | C>W | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504764A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504764A>C Locations: - p.Cys463Trp (Ensembl:ENST00000251973) - c.1389T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs144504964 | 463 | C>Y | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504765C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504765C>T Locations: - p.Cys463Tyr (Ensembl:ENST00000251973) - c.1388G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs2145764136 | 464 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000022.11:g.37504763C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504763C>T Locations: - p.Ala464Thr (Ensembl:ENST00000251973) - c.1390G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1424047073 | 466 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37504757A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504757A>T Locations: - p.Ser466Thr (Ensembl:ENST00000251973) - c.1396T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1412832255 | 468 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37504750G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504750G>C Locations: - p.Ser468Cys (Ensembl:ENST00000251973) - c.1403C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1412832255 | 468 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504750G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504750G>T Locations: - p.Ser468Tyr (Ensembl:ENST00000251973) - c.1403C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1427407248 | 469 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504748G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504748G>T Locations: - p.Leu469Met (Ensembl:ENST00000251973) - c.1405C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923344767 | 470 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37504744C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504744C>T Locations: - p.Cys470Tyr (Ensembl:ENST00000251973) - c.1409G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1432607395 | 472 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37504739T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504739T>C Locations: - p.Asn472Asp (Ensembl:ENST00000251973) - c.1414A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs779369473 | 472 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37504738T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504738T>C Locations: - p.Asn472Ser (Ensembl:ENST00000251973) - c.1415A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs779369473 | 472 | N>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504738T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504738T>G Locations: - p.Asn472Thr (Ensembl:ENST00000251973) - c.1415A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923344521 | 474 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504733T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504733T>A Locations: - p.Ser474Cys (Ensembl:ENST00000251973) - c.1420A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs755439574 | 476 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37504727T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504727T>A Locations: - p.Thr476Ser (Ensembl:ENST00000251973) - c.1426A>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923343933 | 477 | W>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504722C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504722C>A Locations: - p.Trp477Cys (Ensembl:ENST00000251973) - c.1431G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923343828 | 478 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504719G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504719G>C Locations: - p.Ser478Arg (Ensembl:ENST00000251973) - c.1434C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656146 | 479 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37504718G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37504718G>T Locations: - p.Leu479Met (cosmic curated:ENST00000251973) - c.1435C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs766858409 | 480 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000022.11:g.37504714C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504714C>T Locations: - p.Ser480Asn (Ensembl:ENST00000251973) - c.1439G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1371557249 | 480 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000022.11:g.37504715T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504715T>G Locations: - p.Ser480Arg (Ensembl:ENST00000251973) - c.1438A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs750971776 | 481 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37504712C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504712C>T Locations: - p.Glu481Lys (Ensembl:ENST00000251973) - c.1441G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1207664193 | 482 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000022.11:g.37504708A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504708A>G Locations: - p.Phe482Ser (Ensembl:ENST00000251973) - c.1445T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574665 rs1313406227 | 483 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000022.11:g.37504705G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504705G>A Locations: - p.Pro483Leu (Ensembl:ENST00000251973) - c.1448C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1004201907 | 483 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37504706G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504706G>A Locations: - p.Pro483Ser (Ensembl:ENST00000251973) - c.1447C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762467576 | 485 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37504699G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504699G>T Locations: - p.Pro485His (Ensembl:ENST00000251973) - c.1454C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV107248740 rs762467576 | 485 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000022.11:g.37504699G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504699G>A Locations: - p.Pro485Leu (Ensembl:ENST00000251973) - c.1454C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1327035720 | 485 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000022.11:g.37504700G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504700G>A Locations: - p.Pro485Ser (Ensembl:ENST00000251973) - c.1453C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657325 rs1281301260 | 488 | G>D | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: tolerated (0.46) Somatic: Yes Accession: NC_000022.11:g.37504690C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504690C>T Locations: - p.Gly488Asp (Ensembl:ENST00000251973) - c.1463G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1378258421 | 488 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000022.11:g.37504691C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504691C>T Locations: - p.Gly488Ser (Ensembl:ENST00000251973) - c.1462G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 490 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37504685C>A Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504685C>A Locations: - c.1468G>T (NCI-TCGA:ENST00000251973) - p.E490* (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52659474 rs1923341736 | 491 | A>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000022.11:g.37504682C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504682C>T Locations: - p.Ala491Thr (Ensembl:ENST00000251973) - c.1471G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1344131668 | 493 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37504675C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504675C>G Locations: - p.Gly493Ala (Ensembl:ENST00000251973) - c.1478G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923341635 | 493 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37504676C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504676C>T Locations: - p.Gly493Arg (Ensembl:ENST00000251973) - c.1477G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325208 | 493 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37504675C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37504675C>A Locations: - p.Gly493Val (cosmic curated:ENST00000251973) - c.1478G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1302454238 | 494 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000022.11:g.37504673C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504673C>T Locations: - p.Glu494Lys (Ensembl:ENST00000251973) - c.1480G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768266973 | 495 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000022.11:g.37504670C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504670C>T Locations: - p.Ala495Thr (Ensembl:ENST00000251973) - c.1483G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs759392740 | 496 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37504666G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504666G>A Locations: - p.Ala496Val (Ensembl:ENST00000251973) - c.1487C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs138137003 | 497 | V>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000022.11:g.37504664C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504664C>T Locations: - p.Val497Ile (Ensembl:ENST00000251973) - c.1489G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs138137003 | 497 | V>L | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37504664C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504664C>G Locations: - p.Val497Leu (Ensembl:ENST00000251973) - c.1489G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs746970568 | 498 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000022.11:g.37504659C>A, NC_000022.11:g.37504659C>G Codon: ATG/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504659C>A, NC_000022.11:g.37504659C>G Locations: - p.Met498Ile (Ensembl:ENST00000251973) - c.1494G>T (Ensembl:ENST00000251973) - c.1494G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs776537897 | 498 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000022.11:g.37504661T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504661T>G Locations: - p.Met498Leu (Ensembl:ENST00000251973) - c.1492A>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324638 rs770715620 | 498 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.72) - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: Yes Population frequencies: - MAF: 0.000005105 (gnomAD) Accession: NC_000022.11:g.37504660A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504660A>G Locations: - p.M498T (NCI-TCGA:ENST00000251973) - p.Met498Thr (Ensembl:ENST00000251973) - c.1493T>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs776537897 | 498 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000022.11:g.37504661T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504661T>C Locations: - p.Met498Val (Ensembl:ENST00000251973) - c.1492A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923340346 | 500 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37504654C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504654C>G Locations: - p.Gly500Ala (Ensembl:ENST00000251973) - c.1499G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs773124059 | 500 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37504655C>T, NC_000022.11:g.37504655C>G Codon: GGA/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504655C>T, NC_000022.11:g.37504655C>G Locations: - p.Gly500Arg (Ensembl:ENST00000251973) - c.1498G>A (Ensembl:ENST00000251973) - c.1498G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52657474 | 501 | P>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37504651G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37504651G>C Locations: - p.Pro501Arg (cosmic curated:ENST00000251973) - c.1502C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs772212662 | 501 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37504652G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504652G>A Locations: - p.Pro501Ser (Ensembl:ENST00000251973) - c.1501C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs772212662 | 501 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000022.11:g.37504652G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504652G>T Locations: - p.Pro501Thr (Ensembl:ENST00000251973) - c.1501C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52661691 | 504 | H>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37504641G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37504641G>C Locations: - p.His504Gln (cosmic curated:ENST00000251973) - c.1512C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1484041995 | 504 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000022.11:g.37504642T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504642T>C Locations: - p.His504Arg (Ensembl:ENST00000251973) - c.1511A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574684 | 504 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37504643G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37504643G>A Locations: - p.His504Tyr (cosmic curated:ENST00000251973) - c.1510C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs779314332 | 505 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000022.11:g.37504638G>T, NC_000022.11:g.37504638G>C Codon: AAC/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504638G>T, NC_000022.11:g.37504638G>C Locations: - p.Asn505Lys (Ensembl:ENST00000251973) - c.1515C>A (Ensembl:ENST00000251973) - c.1515C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105866765 rs201395381 | 505 | N>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.93) Somatic: Yes Accession: NC_000022.11:g.37504639T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504639T>C Locations: - p.Asn505Ser (Ensembl:ENST00000251973) - c.1514A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs187973940 | 506 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.16) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000022.11:g.37504636G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504636G>A Locations: - p.Ser506Leu (Ensembl:ENST00000251973) - c.1517C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1315984250 | 507 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.37504301C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504301C>T Locations: - p.Glu507Lys (Ensembl:ENST00000251973) - c.1519G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs77081811 | 508 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000022.11:g.37504298C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504298C>T Locations: - p.Glu508Lys (Ensembl:ENST00000251973) - c.1522G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1923328148 | 509 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.55) - PolyPhen: benign (0.014) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000022.11:g.37504295C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504295C>T Locations: - p.A509T (NCI-TCGA:ENST00000251973) - p.Ala509Thr (Ensembl:ENST00000251973) - c.1525G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2145763536 | 509 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000022.11:g.37504294G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504294G>A Locations: - p.Ala509Val (Ensembl:ENST00000251973) - c.1526C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1227989371 | 510 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37504291G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504291G>A Locations: - p.Thr510Ile (Ensembl:ENST00000251973) - c.1529C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs925622063 | 511 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37504287G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504287G>C Locations: - p.Asp511Glu (Ensembl:ENST00000251973) - c.1533C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs935716333 | 511 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37504288T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504288T>C Locations: - p.Asp511Gly (Ensembl:ENST00000251973) - c.1532A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs935716333 | 511 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37504288T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504288T>A Locations: - p.Asp511Val (Ensembl:ENST00000251973) - c.1532A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760479426 | 512 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37504286T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504286T>C Locations: - p.Ser512Gly (Ensembl:ENST00000251973) - c.1534A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1451811162 | 512 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.347) - SIFT: tolerated (0.08) - PolyPhen: benign (0.357) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37504285C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504285C>A Locations: - p.S512I (NCI-TCGA:ENST00000251973) - p.Ser512Ile (Ensembl:ENST00000251973) - c.1535G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs951403795 | 513 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37504281T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504281T>G Locations: - p.Glu513Asp (Ensembl:ENST00000251973) - c.1539A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1366626863 | 514 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.775) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504278C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504278C>G Locations: - p.Lys514Asn (Ensembl:ENST00000251973) - c.1542G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
RCV000882784 RCV003930583 rs61752257 | 514 | K>R | CARD10-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.676) - SIFT: tolerated (0.16) Somatic: No Population frequencies: - MAF: 0.00659 (ClinVar) - MAF: 0.0066719 (1000Genomes) Accession: NC_000022.11:g.37504279T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504279T>C Locations: - p.Lys514Arg (Ensembl:ENST00000251973) - c.1541A>G (Ensembl:ENST00000251973) Disease association: - CARD10-related disorder Source type: large scale study | |||||||
rs1388194780 | 516 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37504274T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504274T>C Locations: - p.Ile516Val (Ensembl:ENST00000251973) - c.1546A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1923326664 | 517 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: tolerated (0.16) - PolyPhen: benign (0.348) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37504270T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504270T>C Locations: - p.N517S (NCI-TCGA:ENST00000251973) - p.Asn517Ser (Ensembl:ENST00000251973) - c.1550A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1923326032 | 518 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504267C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504267C>T Locations: - p.Arg518Gln (Ensembl:ENST00000251973) - c.1553G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656967 rs894583373 | 518 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37504268G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504268G>A Locations: - p.Arg518Trp (Ensembl:ENST00000251973) - c.1552C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923325806 | 519 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37504265G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504265G>A Locations: - p.Leu519Phe (Ensembl:ENST00000251973) - c.1555C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923325470 | 521 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504259T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504259T>G Locations: - p.Ile521Leu (Ensembl:ENST00000251973) - c.1561A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1034158099 | 523 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504252G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504252G>A Locations: - p.Pro523Leu (Ensembl:ENST00000251973) - c.1568C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768936084 | 524 | F>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504250A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504250A>T Locations: - p.Phe524Ile (Ensembl:ENST00000251973) - c.1570T>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs768936084 | 524 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37504250A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504250A>G Locations: - p.Phe524Leu (Ensembl:ENST00000251973) - c.1570T>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1601813358 | 524 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504249A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504249A>G Locations: - p.Phe524Ser (Ensembl:ENST00000251973) - c.1571T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1273706151 | 525 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.541) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504247G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504247G>C Locations: - p.Pro525Ala (Ensembl:ENST00000251973) - c.1573C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1569164767 | 526 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504244G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504244G>C Locations: - p.Pro526Ala (Ensembl:ENST00000251973) - c.1576C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs746331330 | 526 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504243G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504243G>T Locations: - p.Pro526His (Ensembl:ENST00000251973) - c.1577C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs746331330 | 526 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504243G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504243G>A Locations: - p.Pro526Leu (Ensembl:ENST00000251973) - c.1577C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs746331330 | 526 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504243G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504243G>C Locations: - p.Pro526Arg (Ensembl:ENST00000251973) - c.1577C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52659434 | 526 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37504244G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37504244G>T Locations: - p.Pro526Thr (cosmic curated:ENST00000251973) - c.1576C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752145227 | 527 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000022.11:g.37504241T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504241T>C Locations: - p.Ser527Gly (Ensembl:ENST00000251973) - c.1579A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1228260497 | 527 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000022.11:g.37504240C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504240C>T Locations: - p.Ser527Asn (Ensembl:ENST00000251973) - c.1580G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs866337346 | 529 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000022.11:g.37504234C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504234C>T Locations: - p.Gly529Asp (Ensembl:ENST00000251973) - c.1586G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs754584981 | 529 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37504235C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504235C>G Locations: - p.Gly529Arg (Ensembl:ENST00000251973) - c.1585G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs754584981 | 529 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37504235C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504235C>T Locations: - p.Gly529Ser (Ensembl:ENST00000251973) - c.1585G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324939 rs1343667103 | 531 | I>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.427) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37504228A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504228A>G Locations: - p.Ile531Thr (Ensembl:ENST00000251973) - c.1592T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574670 | 532 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37504226G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37504226G>A Locations: - p.Leu532Phe (cosmic curated:ENST00000251973) - c.1594C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324722 rs1346492547 | 533 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37504223G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504223G>A Locations: - p.R533C (NCI-TCGA:ENST00000251973) - p.Arg533Cys (Ensembl:ENST00000251973) - c.1597C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs760556080 | 533 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504222C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504222C>T Locations: - p.Arg533His (Ensembl:ENST00000251973) - c.1598G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52655324 rs760556080 | 533 | R>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37504222C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504222C>A Locations: - p.Arg533Leu (Ensembl:ENST00000251973) - c.1598G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1346492547 | 533 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504223G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504223G>T Locations: - p.Arg533Ser (Ensembl:ENST00000251973) - c.1597C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1198267978 | 534 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504219C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504219C>T Locations: - p.Arg534Gln (Ensembl:ENST00000251973) - c.1601G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1427351036 | 534 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504220G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504220G>A Locations: - p.Arg534Trp (Ensembl:ENST00000251973) - c.1600C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs750318837 | 535 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37504215C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504215C>A Locations: - p.Gln535His (Ensembl:ENST00000251973) - c.1605G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1168201772 | 536 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504214G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504214G>A Locations: - p.Arg536Cys (Ensembl:ENST00000251973) - c.1606C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1465100003 | 536 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37504213C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504213C>T Locations: - p.Arg536His (Ensembl:ENST00000251973) - c.1607G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601813282 | 539 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37504204T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504204T>G Locations: - p.Asp539Ala (Ensembl:ENST00000251973) - c.1616A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1305439381 | 539 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000022.11:g.37504203G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504203G>T Locations: - p.Asp539Glu (Ensembl:ENST00000251973) - c.1617C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601813282 | 539 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.37504204T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504204T>C Locations: - p.Asp539Gly (Ensembl:ENST00000251973) - c.1616A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1375464237 | 539 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37504205C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504205C>T Locations: - p.Asp539Asn (Ensembl:ENST00000251973) - c.1615G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1250744962 | 541 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000022.11:g.37504198G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504198G>T Locations: - p.Ala541Glu (Ensembl:ENST00000251973) - c.1622C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs542339780 | 541 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000022.11:g.37504199C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504199C>A Locations: - p.Ala541Ser (Ensembl:ENST00000251973) - c.1621G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659329 rs542339780 | 541 | A>T | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000022.11:g.37504199C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504199C>T Locations: - p.Ala541Thr (Ensembl:ENST00000251973) - c.1621G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1482163611 | 542 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37504195G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504195G>A Locations: - p.Pro542Leu (Ensembl:ENST00000251973) - c.1625C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1482163611 | 542 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37504195G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504195G>C Locations: - p.Pro542Arg (Ensembl:ENST00000251973) - c.1625C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923320716 | 542 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37504196G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504196G>A Locations: - p.Pro542Ser (Ensembl:ENST00000251973) - c.1624C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs199880158 | 543 | P>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.5) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37504193G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504193G>C Locations: - p.Pro543Ala (Ensembl:ENST00000251973) - c.1627C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs796586243 | 543 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000022.11:g.37504192G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504192G>T Locations: - p.Pro543His (Ensembl:ENST00000251973) - c.1628C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs199880158 | 543 | P>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.38) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37504193G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504193G>T Locations: - p.Pro543Thr (Ensembl:ENST00000251973) - c.1627C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 544 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000022.11:g.37504191_37504192insG Consequence type: frameshift Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504191_37504192insG Locations: - c.1628dup (NCI-TCGA:ENST00000251973) - p.K544* (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs769123893 | 544 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37504190T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504190T>C Locations: - p.Lys544Glu (Ensembl:ENST00000251973) - c.1630A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1385897881 | 545 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37504186C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37504186C>T Locations: - p.Arg545Lys (Ensembl:ENST00000251973) - c.1634G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657563 | 546 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37503211G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37503211G>T Locations: - p.Ser546Tyr (cosmic curated:ENST00000251973) - c.1637C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs745532871 | 549 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37503201G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503201G>T Locations: - p.Ser549Arg (Ensembl:ENST00000251973) - c.1647C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324971 | 550 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.44) Somatic: Yes Accession: NC_000022.11:g.37503198C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503198C>T Locations: - p.M550I (NCI-TCGA:ENST00000251973) - p.Met550Ile (cosmic curated:ENST00000251973) - c.1650G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1319099818 | 550 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000022.11:g.37503199A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503199A>G Locations: - p.Met550Thr (Ensembl:ENST00000251973) - c.1649T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs781115028 | 550 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000022.11:g.37503200T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503200T>C Locations: - p.Met550Val (Ensembl:ENST00000251973) - c.1648A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923279709 | 552 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37503192G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503192G>T Locations: - p.Asp552Glu (Ensembl:ENST00000251973) - c.1656C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658921 | 552 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37503193T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37503193T>C Locations: - p.Asp552Gly (cosmic curated:ENST00000251973) - c.1655A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1234735771 | 553 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.39) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37503189G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503189G>C Locations: - p.Ile553Met (Ensembl:ENST00000251973) - c.1659C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs143277306 | 553 | I>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37503191T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503191T>C Locations: - p.Ile553Val (Ensembl:ENST00000251973) - c.1657A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923279300 | 554 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37503187G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37503187G>A Locations: - p.Thr554Ile (Ensembl:ENST00000251973) - c.1661C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs757106201 | 555 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37502725C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502725C>G Locations: - p.Gly555Ala (Ensembl:ENST00000251973) - c.1664G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1466580879 | 558 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37502716G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502716G>A Locations: - p.Thr558Ile (Ensembl:ENST00000251973) - c.1673C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs199732529 | 559 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.317) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37502714G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502714G>A Locations: - p.Leu559Phe (Ensembl:ENST00000251973) - c.1675C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs777717036 | 560 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37502711T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502711T>C Locations: - p.Lys560Glu (Ensembl:ENST00000251973) - c.1678A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs532862894 | 562 | W>* | 1000Genomes | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37502703C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502703C>T Locations: - p.Trp562Ter (Ensembl:ENST00000251973) - c.1686G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325157 | 562 | W>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502704C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502704C>A Locations: - p.Trp562Leu (cosmic curated:ENST00000251973) - c.1685G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574669 rs758317333 | 563 | S>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000022.11:g.37502701G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502701G>A Locations: - p.Ser563Phe (Ensembl:ENST00000251973) - c.1688C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs758317333 | 563 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37502701G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502701G>T Locations: - p.Ser563Tyr (Ensembl:ENST00000251973) - c.1688C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99325213 | 564 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502698G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502698G>T Locations: - p.Pro564His (cosmic curated:ENST00000251973) - c.1691C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1333595605 | 564 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37502698G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502698G>A Locations: - p.Pro564Leu (Ensembl:ENST00000251973) - c.1691C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656975 | 565 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502695C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502695C>T Locations: - p.Gly565Asp (cosmic curated:ENST00000251973) - c.1694G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs759476266 | 566 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37502692A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502692A>G Locations: - p.Leu566Pro (Ensembl:ENST00000251973) - c.1697T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655356 | 567 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000022.11:g.37502689G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502689G>A Locations: - p.S567F (NCI-TCGA:ENST00000251973) - p.Ser567Phe (cosmic curated:ENST00000251973) - c.1700C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104382275 rs765335110 | 568 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.405) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000022.11:g.37502686G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502686G>A Locations: - p.Ser568Leu (Ensembl:ENST00000251973) - c.1703C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324850 | 571 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000022.11:g.37502677G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502677G>A Locations: - p.S571F (NCI-TCGA:ENST00000251973) - p.Ser571Phe (cosmic curated:ENST00000251973) - c.1712C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324850 | 571 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000022.11:g.37502677G>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502677G>T Locations: - c.1712C>A (NCI-TCGA:ENST00000251973) - p.S571Y (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324875 COSV99325330 | 572 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37502674G>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502674G>C Locations: - p.S572C (NCI-TCGA:ENST00000251973) - p.Ser572Cys (cosmic curated:ENST00000251973) - c.1715C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324875 | 572 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502674G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502674G>A Locations: - p.Ser572Phe (cosmic curated:ENST00000251973) - c.1715C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760896752 | 574 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37502667G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502667G>T Locations: - p.Ser574Arg (Ensembl:ENST00000251973) - c.1722C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs773495772 | 575 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000022.11:g.37502666C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502666C>A Locations: - p.Val575Leu (Ensembl:ENST00000251973) - c.1723G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs773495772 | 575 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.416) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37502666C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502666C>T Locations: - p.Val575Met (Ensembl:ENST00000251973) - c.1723G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 576 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37502661C>T Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502661C>T Locations: - c.1728G>A (NCI-TCGA:ENST00000251973) - p.W576* (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1000135902 | 577 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000022.11:g.37502660G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502660G>T Locations: - p.Pro577Thr (Ensembl:ENST00000251973) - c.1729C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324944 | 578 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502655C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502655C>A Locations: - p.Leu578Phe (cosmic curated:ENST00000251973) - c.1734G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1437062452 | 579 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.367) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37502654C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502654C>T Locations: - p.Gly579Arg (Ensembl:ENST00000251973) - c.1735G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs138265369 | 581 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37502647G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502647G>A Locations: - p.Pro581Leu (Ensembl:ENST00000251973) - c.1742C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs150457769 | 582 | E>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37502644T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502644T>C Locations: - p.Glu582Gly (Ensembl:ENST00000251973) - c.1745A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs150457769 | 582 | E>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37502644T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502644T>A Locations: - p.Glu582Val (Ensembl:ENST00000251973) - c.1745A>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs745430024 | 584 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.342) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37502638A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502638A>C Locations: - p.Leu584Arg (Ensembl:ENST00000251973) - c.1751T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs770643153 | 586 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000022.11:g.37502633C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502633C>A Locations: - p.Ala586Ser (Ensembl:ENST00000251973) - c.1756G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657844 | 587 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502630G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502630G>C Locations: - p.Arg587Gly (cosmic curated:ENST00000251973) - c.1759C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs746691823 | 587 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000022.11:g.37502629C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502629C>G Locations: - p.Arg587Pro (Ensembl:ENST00000251973) - c.1760G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs746691823 | 587 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37502629C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502629C>T Locations: - p.Arg587Gln (Ensembl:ENST00000251973) - c.1760G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654755 COSV52657844 rs1039088798 | 587 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: tolerated (0.14) - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.11) Somatic: Yes Population frequencies: - MAF: 0.00001196 (gnomAD) Accession: NC_000022.11:g.37502630G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502630G>A Locations: - p.R587W (NCI-TCGA:ENST00000251973) - p.Arg587Trp (Ensembl:ENST00000251973) - c.1759C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs200740886 | 588 | G>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.5) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37502626C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502626C>T Locations: - p.Gly588Asp (Ensembl:ENST00000251973) - c.1763G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1161746385 | 588 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000022.11:g.37502627C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502627C>T Locations: - p.Gly588Ser (Ensembl:ENST00000251973) - c.1762G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923255683 | 589 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37502624A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502624A>G Locations: - p.Cys589Arg (Ensembl:ENST00000251973) - c.1765T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748088095 | 589 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000022.11:g.37502623C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502623C>T Locations: - p.Cys589Tyr (Ensembl:ENST00000251973) - c.1766G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs755069751 | 590 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000022.11:g.37502620C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502620C>T Locations: - p.Gly590Asp (Ensembl:ENST00000251973) - c.1769G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs780110046 | 591 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37502617A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502617A>G Locations: - p.Leu591Pro (Ensembl:ENST00000251973) - c.1772T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 591 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37502618G>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502618G>C Locations: - c.1771C>G (NCI-TCGA:ENST00000251973) - p.L591V (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1051623757 | 592 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37502614T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502614T>C Locations: - p.Asp592Gly (Ensembl:ENST00000251973) - c.1775A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1484855538 | 592 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37502615C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502615C>G Locations: - p.Asp592His (Ensembl:ENST00000251973) - c.1774G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1051623757 | 592 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37502614T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502614T>A Locations: - p.Asp592Val (Ensembl:ENST00000251973) - c.1775A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657180 | 593 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502612A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502612A>G Locations: - p.Phe593Leu (cosmic curated:ENST00000251973) - c.1777T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657615 | 593 | F>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502612A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502612A>C Locations: - p.Phe593Val (cosmic curated:ENST00000251973) - c.1777T>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1216221342 | 594 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000022.11:g.37502609G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502609G>A Locations: - p.Leu594Phe (Ensembl:ENST00000251973) - c.1780C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923254659 | 594 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37502608A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502608A>C Locations: - p.Leu594Arg (Ensembl:ENST00000251973) - c.1781T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs528654160 | 595 | N>K | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37502604G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502604G>C Locations: - p.Asn595Lys (Ensembl:ENST00000251973) - c.1785C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs929186598 | 596 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37502603T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502603T>C Locations: - p.Arg596Gly (Ensembl:ENST00000251973) - c.1786A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs961343274 | 596 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37502602C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37502602C>T Locations: - p.Arg596Lys (Ensembl:ENST00000251973) - c.1787G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325459 | 596 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37502602C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37502602C>A Locations: - p.Arg596Met (cosmic curated:ENST00000251973) - c.1787G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654958 | 597 | S>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497177A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497177A>C Locations: - p.Ser597Ala (cosmic curated:ENST00000251973) - c.1789T>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923037020 | 597 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37497177A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497177A>G Locations: - p.Ser597Pro (Ensembl:ENST00000251973) - c.1789T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660113 | 600 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000022.11:g.37497168T>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497168T>C Locations: - p.I600V (NCI-TCGA:ENST00000251973) - p.Ile600Val (cosmic curated:ENST00000251973) - c.1798A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs201423754 | 601 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.97) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000022.11:g.37497164C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497164C>T Locations: - p.Arg601Gln (Ensembl:ENST00000251973) - c.1802G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs562739778 | 601 | R>W | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37497165G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497165G>A Locations: - p.Arg601Trp (Ensembl:ENST00000251973) - c.1801C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs764553007 | 602 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37497162C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497162C>T Locations: - p.Val602Met (Ensembl:ENST00000251973) - c.1804G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1365797192 | 603 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497158G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497158G>C Locations: - p.Ser603Cys (Ensembl:ENST00000251973) - c.1808C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1167645182 | 604 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37497155C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497155C>T Locations: - p.Gly604Asp (Ensembl:ENST00000251973) - c.1811G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654931 rs753304481 | 605 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.33) - PolyPhen: benign (0.041) - SIFT: tolerated (0.68) Somatic: Yes Population frequencies: - MAF: 0.00001197 (gnomAD) Accession: NC_000022.11:g.37497152C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497152C>T Locations: - p.R605Q (NCI-TCGA:ENST00000251973) - p.Arg605Gln (Ensembl:ENST00000251973) - c.1814G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs763506217 | 605 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000022.11:g.37497153G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497153G>A Locations: - p.Arg605Trp (Ensembl:ENST00000251973) - c.1813C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1471866856 | 606 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37497150T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497150T>G Locations: - p.Ser606Arg (Ensembl:ENST00000251973) - c.1816A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs765953882 | 608 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.432) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497143G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497143G>C Locations: - p.Pro608Arg (Ensembl:ENST00000251973) - c.1823C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs760327734 | 610 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497137C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497137C>T Locations: - p.Gly610Asp (Ensembl:ENST00000251973) - c.1829G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1397455090 | 611 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000022.11:g.37497134G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497134G>A Locations: - p.Pro611Leu (Ensembl:ENST00000251973) - c.1832C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325155 | 611 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497134G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497134G>T Locations: - p.Pro611Gln (cosmic curated:ENST00000251973) - c.1832C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655455 | 612 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497132C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497132C>A Locations: - p.E612* (NCI-TCGA:ENST00000251973) - p.Glu612Ter (cosmic curated:ENST00000251973) - c.1834G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1316206171 | 612 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000022.11:g.37497131T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497131T>C Locations: - p.Glu612Gly (Ensembl:ENST00000251973) - c.1835A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1490469529 | 613 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37497128G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497128G>A Locations: - p.Pro613Leu (Ensembl:ENST00000251973) - c.1838C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs577479526 | 614 | Q>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37497125T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497125T>C Locations: - p.Gln614Arg (Ensembl:ENST00000251973) - c.1841A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654349 | 615 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497123C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497123C>A Locations: - p.Asp615Tyr (cosmic curated:ENST00000251973) - c.1843G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1415864335 | 616 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37497118C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497118C>G Locations: - p.Lys616Asn (Ensembl:ENST00000251973) - c.1848G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923034479 | 616 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000022.11:g.37497119T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497119T>C Locations: - p.Lys616Arg (Ensembl:ENST00000251973) - c.1847A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095504 | 617 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497116C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497116C>T Locations: - p.Gly617Glu (cosmic curated:ENST00000251973) - c.1850G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs773974916 | 617 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37497117C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497117C>T Locations: - p.Gly617Arg (Ensembl:ENST00000251973) - c.1849G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768459581 | 618 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000022.11:g.37497113G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497113G>T Locations: - p.Pro618Gln (Ensembl:ENST00000251973) - c.1853C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs370249432 | 620 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37497107C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497107C>T Locations: - p.Gly620Glu (Ensembl:ENST00000251973) - c.1859G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324536 | 620 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497108C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497108C>T Locations: - p.Gly620Arg (cosmic curated:ENST00000251973) - c.1858G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs201810012 | 622 | S>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497101G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497101G>A Locations: - p.Ser622Leu (Ensembl:ENST00000251973) - c.1865C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs961213225 | 622 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37497102A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497102A>G Locations: - p.Ser622Pro (Ensembl:ENST00000251973) - c.1864T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654216 rs201810012 | 622 | S>W | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37497101G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497101G>C Locations: - p.Ser622Trp (Ensembl:ENST00000251973) - c.1865C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs960133696 | 624 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497095T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497095T>C Locations: - p.Tyr624Cys (Ensembl:ENST00000251973) - c.1871A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1189414811 | 624 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37497096A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497096A>G Locations: - p.Tyr624His (Ensembl:ENST00000251973) - c.1870T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 625 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497092C>G Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497092C>G Locations: - c.1874G>C (NCI-TCGA:ENST00000251973) - p.G625A (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1343377771 | 625 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497092C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497092C>T Locations: - p.Gly625Glu (Ensembl:ENST00000251973) - c.1874G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs141811623 | 625 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497093C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497093C>T Locations: - p.Gly625Arg (Ensembl:ENST00000251973) - c.1873G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs757382127 | 626 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497088G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497088G>C Locations: - p.Asp626Glu (Ensembl:ENST00000251973) - c.1878C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 626 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37497090C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497090C>T Locations: - c.1876G>A (NCI-TCGA:ENST00000251973) - p.D626N (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99324520 | 626 | D>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497089T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497089T>A Locations: - p.Asp626Val (cosmic curated:ENST00000251973) - c.1877A>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1281669841 | 627 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497086C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497086C>G Locations: - p.Arg627Thr (Ensembl:ENST00000251973) - c.1880G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1298252274 | 629 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497080G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497080G>A Locations: - p.Ser629Phe (Ensembl:ENST00000251973) - c.1886C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV108042624 | 629 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497080G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497080G>T Locations: - p.Ser629Tyr (cosmic curated:ENST00000251973) - c.1886C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs778261834 | 631 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000022.11:g.37497075C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497075C>T Locations: - p.Ala631Thr (Ensembl:ENST00000251973) - c.1891G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1427102872 | 631 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000022.11:g.37497074G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497074G>A Locations: - p.Ala631Val (Ensembl:ENST00000251973) - c.1892C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs147963407 | 632 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37497072C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497072C>A Locations: - p.Val632Leu (Ensembl:ENST00000251973) - c.1894G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs147963407 | 632 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37497072C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497072C>T Locations: - p.Val632Met (Ensembl:ENST00000251973) - c.1894G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923032087 | 633 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37497068A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497068A>G Locations: - p.Val633Ala (Ensembl:ENST00000251973) - c.1898T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923032189 | 633 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497069C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497069C>T Locations: - p.Val633Met (Ensembl:ENST00000251973) - c.1897G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs369951701 | 634 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497066G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497066G>A Locations: - p.Arg634Cys (Ensembl:ENST00000251973) - c.1900C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324887 rs755522562 | 634 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000022.11:g.37497065C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497065C>T Locations: - p.Arg634His (Ensembl:ENST00000251973) - c.1901G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs755522562 | 634 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37497065C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497065C>A Locations: - p.Arg634Leu (Ensembl:ENST00000251973) - c.1901G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs369951701 | 634 | R>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000022.11:g.37497066G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497066G>T Locations: - p.Arg634Ser (Ensembl:ENST00000251973) - c.1900C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV104382276 | 635 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497062C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497062C>T Locations: - p.Arg635Lys (cosmic curated:ENST00000251973) - c.1904G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1252678363 | 636 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37497060C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497060C>A Locations: - p.Val636Leu (Ensembl:ENST00000251973) - c.1906G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923031210 | 637 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000022.11:g.37497056A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497056A>G Locations: - p.Leu637Pro (Ensembl:ENST00000251973) - c.1910T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs942982585 | 638 | S>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497053G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497053G>A Locations: - p.Ser638Phe (Ensembl:ENST00000251973) - c.1913C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs911564189 | 640 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37497047G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497047G>A Locations: - p.Pro640Leu (Ensembl:ENST00000251973) - c.1919C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923030623 | 640 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000022.11:g.37497048G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497048G>A Locations: - p.Pro640Ser (Ensembl:ENST00000251973) - c.1918C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1312708740 | 641 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37497045C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497045C>G Locations: - p.Gly641Arg (Ensembl:ENST00000251973) - c.1921G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV107248733 | 642 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497041G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497041G>A Locations: - p.Ser642Phe (cosmic curated:ENST00000251973) - c.1925C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660367 | 643 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37497039C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37497039C>A Locations: - p.Ala643Ser (cosmic curated:ENST00000251973) - c.1927G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658045 rs774099152 | 643 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000022.11:g.37497039C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497039C>T Locations: - p.Ala643Thr (Ensembl:ENST00000251973) - c.1927G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762799154 | 644 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000022.11:g.37497035C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497035C>T Locations: - p.Arg644Lys (Ensembl:ENST00000251973) - c.1931G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1923029774 | 644 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37497034C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497034C>A Locations: - p.Arg644Ser (Ensembl:ENST00000251973) - c.1932G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762799154 | 644 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.37497035C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497035C>G Locations: - p.Arg644Thr (Ensembl:ENST00000251973) - c.1931G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs950463105 | 645 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37497031C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497031C>T Locations: - p.Met645Ile (Ensembl:ENST00000251973) - c.1935G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660699 | 645 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: Yes Accession: NC_000022.11:g.37497032A>G Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497032A>G Locations: - p.M645T (NCI-TCGA:ENST00000251973) - p.Met645Thr (cosmic curated:ENST00000251973) - c.1934T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923029428 | 647 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000022.11:g.37497026G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497026G>C Locations: - p.Pro647Arg (Ensembl:ENST00000251973) - c.1940C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1326518094 | 647 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000022.11:g.37497027G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497027G>A Locations: - p.Pro647Ser (Ensembl:ENST00000251973) - c.1939C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1326518094 | 647 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000022.11:g.37497027G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497027G>T Locations: - p.Pro647Thr (Ensembl:ENST00000251973) - c.1939C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 647-648 | PR>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: insertion Somatic: No Accession: NC_000022.11:g.37497023_37497024insTTGGTT Consequence type: insertion Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497023_37497024insTTGGTT Locations: - c.1937_1942dup (NCI-TCGA:ENST00000251973) - p.P647_R648insKP (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs575758505 | 649 | E>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37497020T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497020T>C Locations: - p.Glu649Gly (Ensembl:ENST00000251973) - c.1946A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660974 | 649 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000022.11:g.37497021C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37497021C>T Locations: - p.E649K (NCI-TCGA:ENST00000251973) - p.Glu649Lys (cosmic curated:ENST00000251973) - c.1945G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs770909825 | 650 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000022.11:g.37496559T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496559T>C Locations: - p.Gln650Arg (Ensembl:ENST00000251973) - c.1949A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1383386416 | 651 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000022.11:g.37496556C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496556C>T Locations: - p.Arg651Lys (Ensembl:ENST00000251973) - c.1952G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760865621 COSV52659165 | 651 | R>S | ExAC TOPMed gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000022.11:g.37496555C>G, NC_000022.11:g.37496555C>A Codon: AGG/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496555C>G, NC_000022.11:g.37496555C>A Locations: - p.Arg651Ser (Ensembl:ENST00000251973) - c.1953G>C (Ensembl:ENST00000251973) - p.Arg651Ser (cosmic curated:ENST00000251973) - c.1953G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1383386416 | 651 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37496556C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496556C>G Locations: - p.Arg651Thr (Ensembl:ENST00000251973) - c.1952G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1191722866 | 655 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000022.11:g.37496545C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496545C>A Locations: - p.Ala655Ser (Ensembl:ENST00000251973) - c.1963G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324493 | 656 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37496541C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37496541C>A Locations: - p.Gly656Val (cosmic curated:ENST00000251973) - c.1967G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1262895118 | 657 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37496539G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496539G>C Locations: - p.Leu657Val (Ensembl:ENST00000251973) - c.1969C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs748408495 | 658 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37496536C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496536C>T Locations: - p.Glu658Lys (Ensembl:ENST00000251973) - c.1972G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923010475 | 659 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37496533C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496533C>G Locations: - p.Gly659Arg (Ensembl:ENST00000251973) - c.1975G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs577751588 | 660 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37496529G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496529G>A Locations: - p.Ala660Val (Ensembl:ENST00000251973) - c.1979C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1425678585 | 661 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37496526C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496526C>A Locations: - p.Cys661Phe (Ensembl:ENST00000251973) - c.1982G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656108 | 664 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: tolerated (0.44) Somatic: Yes Accession: NC_000022.11:g.37496518C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496518C>T Locations: - p.A664T (NCI-TCGA:ENST00000251973) - p.Ala664Thr (cosmic curated:ENST00000251973) - c.1990G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1432833592 | 664 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000022.11:g.37496517G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496517G>A Locations: - p.Ala664Val (Ensembl:ENST00000251973) - c.1991C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs780670759 | 665 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37496515C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496515C>T Locations: - p.Glu665Lys (Ensembl:ENST00000251973) - c.1993G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs780670759 | 665 | E>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37496515C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496515C>G Locations: - p.Glu665Gln (Ensembl:ENST00000251973) - c.1993G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1404501447 | 666 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37496511G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496511G>A Locations: - p.Ala666Val (Ensembl:ENST00000251973) - c.1997C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 669 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000022.11:g.37496502C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496502C>A Locations: - c.2006G>T (NCI-TCGA:ENST00000251973) - p.R669I (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2145754984 | 669 | R>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000022.11:g.37496502C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496502C>G Locations: - p.Arg669Thr (Ensembl:ENST00000251973) - c.2006G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs751008593 | 670 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000022.11:g.37496499G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496499G>T Locations: - p.Thr670Asn (Ensembl:ENST00000251973) - c.2009C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs751008593 | 670 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000022.11:g.37496499G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496499G>C Locations: - p.Thr670Ser (Ensembl:ENST00000251973) - c.2009C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52654204 | 671 | L>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37496496A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37496496A>T Locations: - p.Leu671Ter (cosmic curated:ENST00000251973) - c.2012T>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1569162842 COSV104574630 | 673 | W>* | Ensembl cosmic curated | ||||
Consequence: stop gained Somatic: Yes Accession: NC_000022.11:g.37496488_37496489del, NC_000022.11:g.37496489C>T Codon: TGGAAT/TGAT Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496488_37496489del, NC_000022.11:g.37496489C>T Locations: - p.Trp673Ter (Ensembl:ENST00000251973) - c.2019_2020del (Ensembl:ENST00000251973) - p.Trp673Ter (cosmic curated:ENST00000251973) - c.2019G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923008116 | 674 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37496487T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496487T>A Locations: - p.Asn674Ile (Ensembl:ENST00000251973) - c.2021A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1923008004 | 675 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37496485G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496485G>A Locations: - p.Gln675Ter (Ensembl:ENST00000251973) - c.2023C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs377261206 | 675 | Q>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37496484T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496484T>C Locations: - p.Gln675Arg (Ensembl:ENST00000251973) - c.2024A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs373196505 | 676 | G>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000022.11:g.37496481C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496481C>G Locations: - p.Gly676Ala (Ensembl:ENST00000251973) - c.2027G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs373196505 | 676 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.37496481C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496481C>T Locations: - p.Gly676Glu (Ensembl:ENST00000251973) - c.2027G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105821431 | 676 | G>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37496481-37496482CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37496481-37496482CC>TT Locations: - p.Gly676Lys (cosmic curated:ENST00000251973) - c.2026_2027delinsAA (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1318803486 | 677 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000022.11:g.37496478G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496478G>C Locations: - p.Ser677Cys (Ensembl:ENST00000251973) - c.2030C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660487 | 677 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37496478G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496478G>A Locations: - p.S677F (NCI-TCGA:ENST00000251973) - p.Ser677Phe (cosmic curated:ENST00000251973) - c.2030C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs141109936 | 678 | T>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37496475G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496475G>A Locations: - p.Thr678Ile (Ensembl:ENST00000251973) - c.2033C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs151150977 | 680 | P>R | ESP | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000022.11:g.37496469G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496469G>C Locations: - p.Pro680Arg (Ensembl:ENST00000251973) - c.2039C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657351 | 680 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000022.11:g.37496470G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496470G>A Locations: - p.P680S (NCI-TCGA:ENST00000251973) - p.Pro680Ser (cosmic curated:ENST00000251973) - c.2038C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs766281367 | 682 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000022.11:g.37496464G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496464G>C Locations: - p.Leu682Val (Ensembl:ENST00000251973) - c.2044C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs760692759 | 683 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37496461T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496461T>C Locations: - p.Met683Val (Ensembl:ENST00000251973) - c.2047A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
TCGA novel | 684 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000022.11:g.37496458C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496458C>T Locations: - c.2050G>A (NCI-TCGA:ENST00000251973) - p.D684N (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99325427 | 685 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37496454G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37496454G>T Locations: - p.Ser685Ter (cosmic curated:ENST00000251973) - c.2054C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655470 COSV99325427 rs142113268 | 685 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: Yes Population frequencies: - MAF: 0.00002805 (gnomAD) Accession: NC_000022.11:g.37496454G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496454G>A Locations: - p.S685L (NCI-TCGA:ENST00000251973) - p.Ser685Leu (Ensembl:ENST00000251973) - c.2054C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1216184790 | 686 | K>Q | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37496452T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496452T>G Locations: - p.Lys686Gln (Ensembl:ENST00000251973) - c.2056A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656792 | 687 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37496449C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496449C>T Locations: - p.A687T (NCI-TCGA:ENST00000251973) - p.Ala687Thr (cosmic curated:ENST00000251973) - c.2059G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV107248759 | 688 | C>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495999G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495999G>T Locations: - p.Cys688Ter (cosmic curated:ENST00000251973) - c.2064C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922990768 | 688 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000022.11:g.37496000C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37496000C>A Locations: - p.Cys688Phe (Ensembl:ENST00000251973) - c.2063G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922990655 | 692 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37495989G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495989G>A Locations: - p.His692Tyr (Ensembl:ENST00000251973) - c.2074C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922990426 | 693 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000022.11:g.37495986C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495986C>T Locations: - p.Glu693Lys (Ensembl:ENST00000251973) - c.2077G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922990326 | 693 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495985T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495985T>A Locations: - p.Glu693Val (Ensembl:ENST00000251973) - c.2078A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs372113093 | 694 | A>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37495982G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495982G>T Locations: - p.Ala694Asp (Ensembl:ENST00000251973) - c.2081C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs372113093 | 694 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37495982G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495982G>A Locations: - p.Ala694Val (Ensembl:ENST00000251973) - c.2081C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs771555352 | 697 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.37495974C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495974C>A Locations: - p.Ala697Ser (Ensembl:ENST00000251973) - c.2089G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs771555352 | 697 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37495974C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495974C>T Locations: - p.Ala697Thr (Ensembl:ENST00000251973) - c.2089G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922989700 | 699 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000022.11:g.37495968C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495968C>T Locations: - p.Ala699Thr (Ensembl:ENST00000251973) - c.2095G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1427457285 | 701 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000022.11:g.37495961C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495961C>T Locations: - p.Gly701Glu (Ensembl:ENST00000251973) - c.2102G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658418 | 701 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495962C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495962C>T Locations: - p.Gly701Arg (cosmic curated:ENST00000251973) - c.2101G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922989471 | 702 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37495958G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495958G>C Locations: - p.Pro702Arg (Ensembl:ENST00000251973) - c.2105C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1449165057 | 703 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37495956C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495956C>A Locations: - p.Gly703Cys (Ensembl:ENST00000251973) - c.2107G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660459 | 703 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495955C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495955C>A Locations: - p.Gly703Val (cosmic curated:ENST00000251973) - c.2108G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs372045087 | 704 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37495952G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495952G>A Locations: - p.Ala704Val (Ensembl:ENST00000251973) - c.2111C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52655695 rs143997223 | 705 | E>K | Benign (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495950C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495950C>T Locations: - p.Glu705Lys (Ensembl:ENST00000251973) - c.2113G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324845 | 706 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495946G>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495946G>T Locations: - c.2117C>A (NCI-TCGA:ENST00000251973) - p.P706H (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324845 rs779872538 | 706 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious (0.01) - PolyPhen: benign (0.111) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000022.11:g.37495946G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495946G>A Locations: - p.P706L (NCI-TCGA:ENST00000251973) - p.Pro706Leu (Ensembl:ENST00000251973) - c.2117C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52655520 | 707 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495942G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495942G>C Locations: - p.Phe707Leu (cosmic curated:ENST00000251973) - c.2121C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs756010220 | 707 | F>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495944A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495944A>C Locations: - p.Phe707Val (Ensembl:ENST00000251973) - c.2119T>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV104574650 | 708 | Y>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495939G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495939G>T Locations: - p.Tyr708Ter (cosmic curated:ENST00000251973) - c.2124C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660151 rs1922988557 | 710 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495935G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495935G>A Locations: - p.R710C (NCI-TCGA:ENST00000251973) - p.Arg710Cys (Ensembl:ENST00000251973) - c.2128C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1172540222 | 710 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495934C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495934C>T Locations: - p.Arg710His (Ensembl:ENST00000251973) - c.2129G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1569162684 | 714 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.37495923T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495923T>C Locations: - p.Thr714Ala (Ensembl:ENST00000251973) - c.2140A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs767507128 | 716 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37495916G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495916G>A Locations: - p.Pro716Leu (Ensembl:ENST00000251973) - c.2147C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922988264 | 716 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000022.11:g.37495917G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495917G>A Locations: - p.Pro716Ser (Ensembl:ENST00000251973) - c.2146C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV106350312 | 717 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495914C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495914C>A Locations: - p.Glu717Ter (cosmic curated:ENST00000251973) - c.2149G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655640 | 717 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000022.11:g.37495914C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495914C>T Locations: - p.E717K (NCI-TCGA:ENST00000251973) - p.Glu717Lys (cosmic curated:ENST00000251973) - c.2149G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654811 | 718 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495909-37495910CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495909-37495910CC>TT Locations: - p.Arg718Lys (cosmic curated:ENST00000251973) - c.2153_2154delinsAA (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs757267871 | 718 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37495911T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495911T>A Locations: - p.Arg718Trp (Ensembl:ENST00000251973) - c.2152A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922987708 | 719 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37495908C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495908C>T Locations: - p.Ala719Thr (Ensembl:ENST00000251973) - c.2155G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654337 | 720 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495905C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495905C>G Locations: - p.Asp720His (cosmic curated:ENST00000251973) - c.2158G>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922987521 | 721 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495901G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495901G>A Locations: - p.Pro721Leu (Ensembl:ENST00000251973) - c.2162C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325271 | 722 | H>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495899G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495899G>T Locations: - p.His722Asn (cosmic curated:ENST00000251973) - c.2164C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs751621810 | 722 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000022.11:g.37495898T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495898T>C Locations: - p.His722Arg (Ensembl:ENST00000251973) - c.2165A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1365463869 | 722 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37495899G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495899G>A Locations: - p.His722Tyr (Ensembl:ENST00000251973) - c.2164C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922986970 | 723 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.612) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37495896C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495896C>T Locations: - p.Ala723Thr (Ensembl:ENST00000251973) - c.2167G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs868571225 | 723 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495895G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495895G>A Locations: - p.Ala723Val (Ensembl:ENST00000251973) - c.2168C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1433976201 | 724 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495892A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495892A>G Locations: - p.Leu724Pro (Ensembl:ENST00000251973) - c.2171T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658120 COSV52659789 | 725 | C>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000022.11:g.37495888G>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495888G>C Locations: - p.C725W (NCI-TCGA:ENST00000251973) - p.Cys725Trp (cosmic curated:ENST00000251973) - c.2175C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs765583656 | 726 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0) - PolyPhen: benign (0.144) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000022.11:g.37495886A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495886A>G Locations: - p.V726A (NCI-TCGA:ENST00000251973) - p.Val726Ala (Ensembl:ENST00000251973) - c.2177T>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs775615805 | 726 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.31) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37495887C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495887C>A Locations: - p.Val726Leu (Ensembl:ENST00000251973) - c.2176G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs775615805 | 726 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0.02) - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000007956 (gnomAD) Accession: NC_000022.11:g.37495887C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495887C>T Locations: - p.V726M (NCI-TCGA:ENST00000251973) - p.Val726Met (Ensembl:ENST00000251973) - c.2176G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52660958 | 728 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495881C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495881C>T Locations: - p.Ala728Thr (cosmic curated:ENST00000251973) - c.2182G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656778 COSV99325285 | 730 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495875C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495875C>A Locations: - p.E730* (NCI-TCGA:ENST00000251973) - p.Glu730Ter (cosmic curated:ENST00000251973) - c.2188G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654316 | 730 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495873C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495873C>G Locations: - p.Glu730Asp (cosmic curated:ENST00000251973) - c.2190G>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656778 COSV99325285 | 730 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495875C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495875C>T Locations: - p.E730K (NCI-TCGA:ENST00000251973) - p.Glu730Lys (cosmic curated:ENST00000251973) - c.2188G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV104574671 rs1419969622 | 732 | L>F | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495869G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495869G>A Locations: - p.Leu732Phe (Ensembl:ENST00000251973) - c.2194C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654833 rs144108378 | 733 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00003183 (gnomAD) Accession: NC_000022.11:g.37495866G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495866G>A Locations: - p.R733* (NCI-TCGA:ENST00000251973) - p.Arg733Ter (Ensembl:ENST00000251973) - c.2197C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs139374054 | 733 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495865C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495865C>A Locations: - p.Arg733Leu (Ensembl:ENST00000251973) - c.2198G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105095540 TCGA novel rs139374054 | 733 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.569) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495865C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495865C>T Locations: - p.R733Q (NCI-TCGA:ENST00000251973) - p.Arg733Gln (Ensembl:ENST00000251973) - c.2198G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs146267364 | 735 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37495860C>A, NC_000022.11:g.37495860C>G Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495860C>A, NC_000022.11:g.37495860C>G Locations: - p.Val735Leu (Ensembl:ENST00000251973) - c.2203G>T (Ensembl:ENST00000251973) - c.2203G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs146267364 | 735 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37495860C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495860C>T Locations: - p.Val735Met (Ensembl:ENST00000251973) - c.2203G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922984925 | 736 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495856T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495856T>G Locations: - p.Asp736Ala (Ensembl:ENST00000251973) - c.2207A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659079 | 736 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495856T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495856T>C Locations: - p.Asp736Gly (cosmic curated:ENST00000251973) - c.2207A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659953 | 736 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495857C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495857C>T Locations: - p.D736N (NCI-TCGA:ENST00000251973) - p.Asp736Asn (cosmic curated:ENST00000251973) - c.2206G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1484742313 | 736 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495857C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495857C>A Locations: - p.Asp736Tyr (Ensembl:ENST00000251973) - c.2206G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs779637246 | 737 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37495853G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495853G>A Locations: - p.Ser737Leu (Ensembl:ENST00000251973) - c.2210C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs779637246 | 737 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495853G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495853G>C Locations: - p.Ser737Trp (Ensembl:ENST00000251973) - c.2210C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324472 | 738 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495851C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495851C>T Locations: - p.Ala738Thr (cosmic curated:ENST00000251973) - c.2212G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1291385236 | 739 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000022.11:g.37495848A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495848A>G Locations: - p.Tyr739His (Ensembl:ENST00000251973) - c.2215T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601808897 | 740 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495845T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495845T>C Locations: - p.Lys740Glu (Ensembl:ENST00000251973) - c.2218A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655071 rs373915680 | 741 | R>Q | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.57) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000022.11:g.37495841C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495841C>T Locations: - p.Arg741Gln (Ensembl:ENST00000251973) - c.2222G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095456 rs368640149 | 741 | R>W | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495842G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495842G>A Locations: - p.Arg741Trp (Ensembl:ENST00000251973) - c.2221C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1269866635 | 742 | R>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495838C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495838C>A Locations: - p.Arg742Met (Ensembl:ENST00000251973) - c.2225G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1459872743 | 743 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37495836G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495836G>A Locations: - p.Gln743Ter (Ensembl:ENST00000251973) - c.2227C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658677 | 744 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495833C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495833C>T Locations: - p.Glu744Lys (cosmic curated:ENST00000251973) - c.2230G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1382181090 | 745 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37495828C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495828C>T Locations: - p.Trp745Ter (Ensembl:ENST00000251973) - c.2235G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922983527 | 746 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000022.11:g.37495825G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495825G>C Locations: - p.Phe746Leu (Ensembl:ENST00000251973) - c.2238C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs758474987 | 748 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37495820G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495820G>A Locations: - p.Thr748Ile (Ensembl:ENST00000251973) - c.2243C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV108042627 | 748 | T>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495821T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495821T>G Locations: - p.Thr748Pro (cosmic curated:ENST00000251973) - c.2242A>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659872 | 749 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495817C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495817C>A Locations: - p.Arg749Leu (cosmic curated:ENST00000251973) - c.2246G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1569162625 | 749 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495817C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495817C>T Locations: - p.Arg749Gln (Ensembl:ENST00000251973) - c.2246G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658017 rs752952042 | 749 | R>W | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495818G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495818G>A Locations: - p.Arg749Trp (Ensembl:ENST00000251973) - c.2245C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs915038481 | 750 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495815C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495815C>T Locations: - p.Val750Ile (Ensembl:ENST00000251973) - c.2248G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1054561933 | 751 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495810G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495810G>T Locations: - p.Asp751Glu (Ensembl:ENST00000251973) - c.2253C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs765383121 | 752 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495808G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495808G>T Locations: - p.Pro752His (Ensembl:ENST00000251973) - c.2255C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654477 rs1922982639 | 752 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious (0.01) - PolyPhen: benign (0.178) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37495809G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495809G>A Locations: - p.P752S (NCI-TCGA:ENST00000251973) - p.Pro752Ser (Ensembl:ENST00000251973) - c.2254C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1388744142 | 753 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37495806G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495806G>T Locations: - p.Leu753Ile (Ensembl:ENST00000251973) - c.2257C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs746538476 | 756 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495796C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495796C>G Locations: - p.Arg756Pro (Ensembl:ENST00000251973) - c.2267G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654713 rs746538476 | 756 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: tolerated (0.15) - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.15) Somatic: Yes Population frequencies: - MAF: 0.000007971 (gnomAD) Accession: NC_000022.11:g.37495796C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495796C>T Locations: - p.R756Q (NCI-TCGA:ENST00000251973) - p.Arg756Gln (Ensembl:ENST00000251973) - c.2267G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52656225 rs754161302 | 756 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37495797G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495797G>A Locations: - p.Arg756Trp (Ensembl:ENST00000251973) - c.2266C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325168 rs766748417 | 757 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001992 (gnomAD) Accession: NC_000022.11:g.37495794C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495794C>T Locations: - p.D757N (NCI-TCGA:ENST00000251973) - p.Asp757Asn (Ensembl:ENST00000251973) - c.2269G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1426666676 | 759 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37495787T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495787T>G Locations: - p.Asp759Ala (Ensembl:ENST00000251973) - c.2276A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324505 rs1922981463 | 760 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: tolerated (0.09) - PolyPhen: benign (0.156) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000022.11:g.37495784C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495784C>A Locations: - p.R760L (NCI-TCGA:ENST00000251973) - p.Arg760Leu (Ensembl:ENST00000251973) - c.2279G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922981463 | 760 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37495784C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495784C>T Locations: - p.Arg760Gln (Ensembl:ENST00000251973) - c.2279G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs566109287 | 760 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495785G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495785G>A Locations: - p.Arg760Trp (Ensembl:ENST00000251973) - c.2278C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV106350179 | 761 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495781C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495781C>T Locations: - p.Gly761Asp (cosmic curated:ENST00000251973) - c.2282G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324741 rs1922981356 | 762 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37495778G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495778G>A Locations: - p.T762I (NCI-TCGA:ENST00000251973) - p.Thr762Ile (Ensembl:ENST00000251973) - c.2285C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658765 rs1490143209 | 763 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003989 (gnomAD) Accession: NC_000022.11:g.37495776C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495776C>T Locations: - p.V763M (NCI-TCGA:ENST00000251973) - p.Val763Met (Ensembl:ENST00000251973) - c.2287G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs762426779 | 764 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495772G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495772G>T Locations: - p.Pro764His (Ensembl:ENST00000251973) - c.2291C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs904865380 | 765 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000022.11:g.37495769T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495769T>C Locations: - p.Asn765Ser (Ensembl:ENST00000251973) - c.2294A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs904865380 | 765 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495769T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495769T>G Locations: - p.Asn765Thr (Ensembl:ENST00000251973) - c.2294A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs775145886 | 766 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37495767A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495767A>T Locations: - p.Tyr766Asn (Ensembl:ENST00000251973) - c.2296T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52661181 COSV99325171 | 767 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495764G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495764G>A Locations: - p.Q767* (NCI-TCGA:ENST00000251973) - p.Gln767Ter (cosmic curated:ENST00000251973) - c.2299C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52661181 | 767 | Q>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495764G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37495764G>C Locations: - p.Gln767Glu (cosmic curated:ENST00000251973) - c.2299C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1266145511 | 767 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495763T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495763T>G Locations: - p.Gln767Pro (Ensembl:ENST00000251973) - c.2300A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1329262064 | 768 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495761T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495761T>C Locations: - p.Arg768Gly (Ensembl:ENST00000251973) - c.2302A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs759233532 | 769 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495584G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495584G>C Locations: - p.Ala769Gly (Ensembl:ENST00000251973) - c.2306C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs759233532 | 769 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495584G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495584G>A Locations: - p.Ala769Val (Ensembl:ENST00000251973) - c.2306C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs893656546 | 770 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37495582G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495582G>A Locations: - p.Gln770Ter (Ensembl:ENST00000251973) - c.2308C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922971127 | 776 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37495563T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495563T>C Locations: - p.Gln776Arg (Ensembl:ENST00000251973) - c.2327A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1052249875 | 779 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37495554C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495554C>T Locations: - p.Cys779Tyr (Ensembl:ENST00000251973) - c.2336G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs746726047 | 781 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000022.11:g.37495549G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495549G>A Locations: - p.Pro781Ser (Ensembl:ENST00000251973) - c.2341C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs746726047 | 781 | P>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000022.11:g.37495549G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495549G>T Locations: - p.Pro781Thr (Ensembl:ENST00000251973) - c.2341C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs777626503 | 782 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000022.11:g.37495546A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495546A>G Locations: - p.Ser782Pro (Ensembl:ENST00000251973) - c.2344T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs771860683 | 783 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000022.11:g.37495542C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495542C>T Locations: - p.Ser783Asn (Ensembl:ENST00000251973) - c.2348G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs150625133 | 784 | R>P | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.763) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37495539C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495539C>G Locations: - p.Arg784Pro (Ensembl:ENST00000251973) - c.2351G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs150625133 | 784 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.74) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37495539C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495539C>T Locations: - p.Arg784Gln (Ensembl:ENST00000251973) - c.2351G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325305 rs745445545 | 784 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.1) - PolyPhen: probably damaging (0.935) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.00003659 (gnomAD) Accession: NC_000022.11:g.37495540G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495540G>A Locations: - p.R784W (NCI-TCGA:ENST00000251973) - p.Arg784Trp (Ensembl:ENST00000251973) - c.2350C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52656003 rs750715809 | 786 | R>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37495534G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495534G>A Locations: - p.Arg786Ter (Ensembl:ENST00000251973) - c.2356C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs750715809 | 786 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495534G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495534G>C Locations: - p.Arg786Gly (Ensembl:ENST00000251973) - c.2356C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs200567275 | 786 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000784929 (1000Genomes) Accession: NC_000022.11:g.37495533C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495533C>T Locations: - p.Arg786Gln (Ensembl:ENST00000251973) - c.2357G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145753993 | 787 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37495530C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495530C>G Locations: - p.Gly787Ala (Ensembl:ENST00000251973) - c.2360G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1346193623 | 787 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37495531C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495531C>A Locations: - p.Gly787Cys (Ensembl:ENST00000251973) - c.2359G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1346193623 | 787 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000022.11:g.37495531C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495531C>T Locations: - p.Gly787Ser (Ensembl:ENST00000251973) - c.2359G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752151917 | 788 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37495528G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495528G>T Locations: - p.Pro788Thr (Ensembl:ENST00000251973) - c.2362C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs764840587 | 789 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495525G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495525G>A Locations: - p.Arg789Cys (Ensembl:ENST00000251973) - c.2365C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs764840587 | 789 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495525G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495525G>C Locations: - p.Arg789Gly (Ensembl:ENST00000251973) - c.2365C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs776297419 | 789 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001236 (gnomAD) Accession: NC_000022.11:g.37495524C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495524C>T Locations: - p.R789H (NCI-TCGA:ENST00000251973) - p.Arg789His (Ensembl:ENST00000251973) - c.2366G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs776297419 | 789 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37495524C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495524C>G Locations: - p.Arg789Pro (Ensembl:ENST00000251973) - c.2366G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1451759048 | 790 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37495522T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495522T>C Locations: - p.Ser790Gly (Ensembl:ENST00000251973) - c.2368A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145753967 | 791 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37495518T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37495518T>C Locations: - p.Asn791Ser (Ensembl:ENST00000251973) - c.2372A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922908502 | 793 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37494184T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494184T>C Locations: - p.Lys793Arg (Ensembl:ENST00000251973) - c.2378A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095502 rs1922908258 | 796 | A>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000022.11:g.37494176C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494176C>T Locations: - p.Ala796Thr (Ensembl:ENST00000251973) - c.2386G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922908107 | 797 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37494172A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494172A>G Locations: - p.Leu797Pro (Ensembl:ENST00000251973) - c.2390T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095513 | 799 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37494167G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37494167G>A Locations: - p.Gln799Ter (cosmic curated:ENST00000251973) - c.2395C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs868486484 | 801 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37494160C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494160C>A Locations: - p.Arg801Leu (Ensembl:ENST00000251973) - c.2402G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs868486484 | 801 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.33) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37494160C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494160C>T Locations: - p.Arg801Gln (Ensembl:ENST00000251973) - c.2402G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1473413620 | 801 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37494161G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494161G>A Locations: - p.Arg801Trp (Ensembl:ENST00000251973) - c.2401C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752102852 | 803 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37494154A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494154A>C Locations: - p.Val803Gly (Ensembl:ENST00000251973) - c.2408T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs376324506 | 804 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37494151C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494151C>T Locations: - p.Arg804Lys (Ensembl:ENST00000251973) - c.2411G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs376324506 | 804 | R>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37494151C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494151C>A Locations: - p.Arg804Met (Ensembl:ENST00000251973) - c.2411G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922906931 | 805 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37494148G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494148G>A Locations: - p.Pro805Leu (Ensembl:ENST00000251973) - c.2414C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922907025 | 805 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000022.11:g.37494149G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494149G>A Locations: - p.Pro805Ser (Ensembl:ENST00000251973) - c.2413C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs200284070 | 808 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000022.11:g.37494140C>G, NC_000022.11:g.37494140C>A Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494140C>G, NC_000022.11:g.37494140C>A Locations: - p.Val808Leu (Ensembl:ENST00000251973) - c.2422G>C (Ensembl:ENST00000251973) - c.2422G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655987 rs200284070 | 808 | V>M | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000022.11:g.37494140C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494140C>T Locations: - p.Val808Met (Ensembl:ENST00000251973) - c.2422G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922906360 | 810 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37494134C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494134C>A Locations: - p.Ala810Ser (Ensembl:ENST00000251973) - c.2428G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922906360 | 810 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37494134C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494134C>T Locations: - p.Ala810Thr (Ensembl:ENST00000251973) - c.2428G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095455 rs932339334 | 810 | A>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000022.11:g.37494133G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494133G>A Locations: - p.Ala810Val (Ensembl:ENST00000251973) - c.2429C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1340949360 | 811 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37494131G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494131G>C Locations: - p.Pro811Ala (Ensembl:ENST00000251973) - c.2431C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1340949360 | 811 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37494131G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494131G>T Locations: - p.Pro811Thr (Ensembl:ENST00000251973) - c.2431C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325532 rs199550317 | 813 | G>E | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000022.11:g.37494124C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494124C>T Locations: - p.Gly813Glu (Ensembl:ENST00000251973) - c.2438G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1404600469 | 813 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000022.11:g.37494125C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494125C>T Locations: - p.Gly813Arg (Ensembl:ENST00000251973) - c.2437G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs775071196 | 814 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000022.11:g.37494120G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494120G>T Locations: - p.Asp814Glu (Ensembl:ENST00000251973) - c.2442C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs772953149 | 815 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37494118G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494118G>A Locations: - p.Ser815Phe (Ensembl:ENST00000251973) - c.2444C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1396405524 | 815 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000022.11:g.37494119A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494119A>G Locations: - p.Ser815Pro (Ensembl:ENST00000251973) - c.2443T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs772953149 | 815 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37494118G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494118G>T Locations: - p.Ser815Tyr (Ensembl:ENST00000251973) - c.2444C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922905032 | 816 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37494116G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494116G>C Locations: - p.Pro816Ala (Ensembl:ENST00000251973) - c.2446C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657501 rs1478997200 | 816 | P>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.24) Somatic: Yes Accession: NC_000022.11:g.37494115G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494115G>A Locations: - p.Pro816Leu (Ensembl:ENST00000251973) - c.2447C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1198194386 | 817 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37494113C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494113C>T Locations: - p.Asp817Asn (Ensembl:ENST00000251973) - c.2449G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1476841138 | 818 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37494110G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494110G>A Locations: - p.Gln818Ter (Ensembl:ENST00000251973) - c.2452C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs866647212 | 818 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37494108C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494108C>A Locations: - p.Gln818His (Ensembl:ENST00000251973) - c.2454G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1325788566 | 820 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37494103A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494103A>G Locations: - p.Leu820Pro (Ensembl:ENST00000251973) - c.2459T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1325788566 | 820 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37494103A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494103A>T Locations: - p.Leu820Gln (Ensembl:ENST00000251973) - c.2459T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1221651968 | 821 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37494100A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494100A>G Locations: - p.Leu821Pro (Ensembl:ENST00000251973) - c.2462T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922903893 | 823 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37494094G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494094G>A Locations: - p.Pro823Leu (Ensembl:ENST00000251973) - c.2468C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs761653269 | 824 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37494091C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494091C>T Locations: - p.Cys824Tyr (Ensembl:ENST00000251973) - c.2471G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1318283078 | 825 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37494088G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494088G>C Locations: - p.Ala825Gly (Ensembl:ENST00000251973) - c.2474C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1318283078 | 825 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37494088G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37494088G>A Locations: - p.Ala825Val (Ensembl:ENST00000251973) - c.2474C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1377883556 | 826 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37492802T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492802T>C Locations: - p.Glu826Gly (Ensembl:ENST00000251973) - c.2477A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs368352079 | 827 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000022.11:g.37492799G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492799G>A Locations: - p.Pro827Leu (Ensembl:ENST00000251973) - c.2480C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs368352079 | 827 | P>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37492799G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492799G>C Locations: - p.Pro827Arg (Ensembl:ENST00000251973) - c.2480C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1000038688 | 827 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37492800G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492800G>A Locations: - p.Pro827Ser (Ensembl:ENST00000251973) - c.2479C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762848305 | 828 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37492796T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492796T>C Locations: - p.Glu828Gly (Ensembl:ENST00000251973) - c.2483A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1242422269 | 828 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37492797C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492797C>T Locations: - p.Glu828Lys (Ensembl:ENST00000251973) - c.2482G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325255 | 829 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492793C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492793C>A Locations: - p.Arg829Leu (cosmic curated:ENST00000251973) - c.2486G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325255 rs769750011 | 829 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.49) - PolyPhen: benign (0.191) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.000008199 (gnomAD) Accession: NC_000022.11:g.37492793C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492793C>T Locations: - p.R829Q (NCI-TCGA:ENST00000251973) - p.Arg829Gln (Ensembl:ENST00000251973) - c.2486G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
CA10219455 COSV52658550 RCV000416608 rs201794655 | 829 | R>W | Primary open angle glaucoma (ClinVar) | Risk factor (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: Yes Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000022.11:g.37492794G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492794G>A Locations: - p.Arg829Trp (Ensembl:ENST00000251973) - c.2485C>T (Ensembl:ENST00000251973) Disease association: - Primary open angle glaucoma (POAG) Source type: large scale study | |||||||
rs1922852675 | 830 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37492789G>T, NC_000022.11:g.37492789G>C Codon: AGC/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492789G>T, NC_000022.11:g.37492789G>C Locations: - p.Ser830Arg (Ensembl:ENST00000251973) - c.2490C>A (Ensembl:ENST00000251973) - c.2490C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656073 | 832 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492785T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492785T>C Locations: - p.Arg832Gly (cosmic curated:ENST00000251973) - c.2494A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922852306 | 832 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37492784C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492784C>G Locations: - p.Arg832Thr (Ensembl:ENST00000251973) - c.2495G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs776581731 | 833 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37492782G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492782G>C Locations: - p.Pro833Ala (Ensembl:ENST00000251973) - c.2497C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655974 | 833 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492782G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492782G>T Locations: - p.Pro833Thr (cosmic curated:ENST00000251973) - c.2497C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922851453 | 835 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37492775C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492775C>A Locations: - p.Ser835Ile (Ensembl:ENST00000251973) - c.2504G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 835 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492775C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492775C>T Locations: - c.2504G>A (NCI-TCGA:ENST00000251973) - p.S835N (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs200672370 | 836 | L>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37492772A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492772A>G Locations: - p.Leu836Ser (Ensembl:ENST00000251973) - c.2507T>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1402708053 | 837 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.701) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492770C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492770C>T Locations: - p.Val837Met (Ensembl:ENST00000251973) - c.2509G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1569161815 | 838 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37492766C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492766C>T Locations: - p.Arg838Gln (Ensembl:ENST00000251973) - c.2513G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655224 rs1040372062 | 838 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.723) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000022.11:g.37492767G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492767G>A Locations: - p.Arg838Trp (Ensembl:ENST00000251973) - c.2512C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs772601712 | 839 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492763G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492763G>A Locations: - p.Pro839Leu (Ensembl:ENST00000251973) - c.2516C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
TCGA novel | 839 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37492763G>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492763G>C Locations: - c.2516C>G (NCI-TCGA:ENST00000251973) - p.P839R (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99324841 rs2145751062 | 839 | P>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37492764G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492764G>T Locations: - p.Pro839Thr (Ensembl:ENST00000251973) - c.2515C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1303804777 | 842 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492755C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492755C>T Locations: - p.Val842Met (Ensembl:ENST00000251973) - c.2524G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145751036 | 844 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000022.11:g.37492749C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492749C>T Locations: - p.Ala844Thr (Ensembl:ENST00000251973) - c.2530G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324756 | 846 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492742C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492742C>A Locations: - p.Arg846Leu (cosmic curated:ENST00000251973) - c.2537G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660804 | 846 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492742C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492742C>T Locations: - p.Arg846Gln (cosmic curated:ENST00000251973) - c.2537G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656302 rs755453339 | 846 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.72) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.716) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000004022 (gnomAD) Accession: NC_000022.11:g.37492743G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492743G>A Locations: - p.R846W (NCI-TCGA:ENST00000251973) - p.Arg846Trp (Ensembl:ENST00000251973) - c.2536C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659733 | 847 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492739G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492739G>T Locations: - p.Pro847His (cosmic curated:ENST00000251973) - c.2540C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654237 rs756882892 | 848 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000008041 (gnomAD) Accession: NC_000022.11:g.37492737C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492737C>T Locations: - p.V848M (NCI-TCGA:ENST00000251973) - p.Val848Met (Ensembl:ENST00000251973) - c.2542G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1244806086 | 849 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000022.11:g.37492734C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492734C>A Locations: - p.Val849Leu (Ensembl:ENST00000251973) - c.2545G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658877 | 849 | V>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492734C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492734C>T Locations: - p.Val849Met (cosmic curated:ENST00000251973) - c.2545G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922848799 | 850 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37492731G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492731G>C Locations: - p.Leu850Val (Ensembl:ENST00000251973) - c.2548C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 853 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000022.11:g.37492722C>G Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492722C>G Locations: - c.2557G>C (NCI-TCGA:ENST00000251973) - p.E853Q (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52659836 rs751254949 | 856 | A>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000022.11:g.37492712G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492712G>A Locations: - p.Ala856Val (Ensembl:ENST00000251973) - c.2567C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1162555874 | 857 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492710G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492710G>C Locations: - p.Pro857Ala (Ensembl:ENST00000251973) - c.2569C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1162555874 | 857 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37492710G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492710G>A Locations: - p.Pro857Ser (Ensembl:ENST00000251973) - c.2569C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs759424958 | 858 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000022.11:g.37492707G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492707G>C Locations: - p.Arg858Gly (Ensembl:ENST00000251973) - c.2572C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs776727513 | 858 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37492706C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492706C>T Locations: - p.Arg858Gln (Ensembl:ENST00000251973) - c.2573G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs759424958 | 858 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37492707G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492707G>A Locations: - p.Arg858Trp (Ensembl:ENST00000251973) - c.2572C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922848167 | 859 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492704G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492704G>C Locations: - p.Leu859Val (Ensembl:ENST00000251973) - c.2575C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922847936 | 860 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37492701T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492701T>G Locations: - p.Ile860Leu (Ensembl:ENST00000251973) - c.2578A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760946767 | 861 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492698G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492698G>A Locations: - p.Arg861Cys (Ensembl:ENST00000251973) - c.2581C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs760946767 | 861 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492698G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492698G>C Locations: - p.Arg861Gly (Ensembl:ENST00000251973) - c.2581C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1219096640 | 861 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492697C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492697C>T Locations: - p.Arg861His (Ensembl:ENST00000251973) - c.2582G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1219096640 | 861 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492697C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492697C>A Locations: - p.Arg861Leu (Ensembl:ENST00000251973) - c.2582G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655101 | 863 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492692G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492692G>T Locations: - p.Leu863Met (cosmic curated:ENST00000251973) - c.2587C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660739 | 865 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37492684G>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492684G>T Locations: - p.D865E (NCI-TCGA:ENST00000251973) - p.Asp865Glu (cosmic curated:ENST00000251973) - c.2595C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs377214071 | 865 | D>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37492685T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492685T>C Locations: - p.Asp865Gly (Ensembl:ENST00000251973) - c.2594A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52659749 | 865 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492686C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492686C>G Locations: - p.Asp865His (cosmic curated:ENST00000251973) - c.2593G>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1264941590 | 866 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37492683G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492683G>T Locations: - p.Leu866Met (Ensembl:ENST00000251973) - c.2596C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1219933095 | 867 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000022.11:g.37492680G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492680G>A Locations: - p.Pro867Ser (Ensembl:ENST00000251973) - c.2599C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656413 | 868 | S>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492677T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492677T>C Locations: - p.Ser868Gly (cosmic curated:ENST00000251973) - c.2602A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs774583145 | 868 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000022.11:g.37492676C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492676C>T Locations: - p.Ser868Asn (Ensembl:ENST00000251973) - c.2603G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs774583145 | 868 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000022.11:g.37492676C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492676C>G Locations: - p.Ser868Thr (Ensembl:ENST00000251973) - c.2603G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52660863 | 869 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37492673G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492673G>A Locations: - p.S869F (NCI-TCGA:ENST00000251973) - p.Ser869Phe (cosmic curated:ENST00000251973) - c.2606C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
TCGA novel | 869 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37492674A>G Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492674A>G Locations: - c.2605T>C (NCI-TCGA:ENST00000251973) - p.S869P (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs377599502 | 870 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.457) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37492670C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492670C>T Locations: - p.Arg870Gln (Ensembl:ENST00000251973) - c.2609G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52660873 rs1338972565 | 870 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37492671G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492671G>A Locations: - p.Arg870Trp (Ensembl:ENST00000251973) - c.2608C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52658688 rs1601807176 | 873 | F>L | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37492660G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492660G>T Locations: - p.Phe873Leu (Ensembl:ENST00000251973) - c.2619C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1400260817 | 873 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37492661A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492661A>T Locations: - p.Phe873Tyr (Ensembl:ENST00000251973) - c.2618T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1364339033 | 874 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37492659G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492659G>C Locations: - p.Gln874Glu (Ensembl:ENST00000251973) - c.2620C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658251 | 874 | Q>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492658T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492658T>A Locations: - p.Gln874Leu (cosmic curated:ENST00000251973) - c.2621A>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs369567435 | 875 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000022.11:g.37492656C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492656C>G Locations: - p.Val875Leu (Ensembl:ENST00000251973) - c.2623G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52661781 | 875 | V>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492656C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492656C>T Locations: - p.Val875Met (cosmic curated:ENST00000251973) - c.2623G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1459047837 | 876 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492653A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492653A>G Locations: - p.Cys876Arg (Ensembl:ENST00000251973) - c.2626T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922845932 | 877 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37492650G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492650G>A Locations: - p.Pro877Ser (Ensembl:ENST00000251973) - c.2629C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs148113688 | 878 | A>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492646G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492646G>A Locations: - p.Ala878Val (Ensembl:ENST00000251973) - c.2633C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs912668277 | 879 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000022.11:g.37492550T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492550T>C Locations: - p.Glu879Gly (Ensembl:ENST00000251973) - c.2636A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs756125523 | 880 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000022.11:g.37492547C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492547C>T Locations: - p.Ser880Asn (Ensembl:ENST00000251973) - c.2639G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922841237 | 881 | L>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37492544A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492544A>T Locations: - p.Leu881His (Ensembl:ENST00000251973) - c.2642T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV107248655 rs1344804224 | 884 | E>K | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000022.11:g.37492536C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492536C>T Locations: - p.Glu884Lys (Ensembl:ENST00000251973) - c.2650G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52657215 | 885 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492533C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492533C>A Locations: - p.Glu885Ter (cosmic curated:ENST00000251973) - c.2653G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1253831714 | 885 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000022.11:g.37492531T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492531T>A Locations: - p.Glu885Asp (Ensembl:ENST00000251973) - c.2655A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs758937637 | 886 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37492529A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492529A>G Locations: - p.Leu886Pro (Ensembl:ENST00000251973) - c.2657T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs767514481 | 886 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000022.11:g.37492530G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492530G>C Locations: - p.Leu886Val (Ensembl:ENST00000251973) - c.2656C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324728 | 889 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000022.11:g.37492520G>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492520G>A Locations: - p.S889F (NCI-TCGA:ENST00000251973) - p.Ser889Phe (cosmic curated:ENST00000251973) - c.2666C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99324613 | 890 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492517G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492517G>T Locations: - p.Ser890Ter (cosmic curated:ENST00000251973) - c.2669C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656839 | 890 | S>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492518A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492518A>C Locations: - p.Ser890Ala (cosmic curated:ENST00000251973) - c.2668T>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1307914382 | 890 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.37492517G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492517G>A Locations: - p.Ser890Leu (Ensembl:ENST00000251973) - c.2669C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762072571 | 891 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000022.11:g.37492514G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492514G>A Locations: - p.Ala891Val (Ensembl:ENST00000251973) - c.2672C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs2145750750 | 892 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000022.11:g.37492512G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492512G>C Locations: - p.Pro892Ala (Ensembl:ENST00000251973) - c.2674C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659516 | 893 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000022.11:g.37492509C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492509C>T Locations: - p.G893R (NCI-TCGA:ENST00000251973) - p.Gly893Arg (cosmic curated:ENST00000251973) - c.2677G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325013 | 894 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000022.11:g.37492506C>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492506C>T Locations: - p.A894T (NCI-TCGA:ENST00000251973) - p.Ala894Thr (cosmic curated:ENST00000251973) - c.2680G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs982629477 | 894 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000022.11:g.37492505G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492505G>A Locations: - p.Ala894Val (Ensembl:ENST00000251973) - c.2681C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1170996714 | 895 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000022.11:g.37492502G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492502G>A Locations: - p.Pro895Leu (Ensembl:ENST00000251973) - c.2684C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657882 | 895 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492503G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492503G>A Locations: - p.Pro895Ser (cosmic curated:ENST00000251973) - c.2683C>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs775837657 | 896 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000022.11:g.37492500T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492500T>C Locations: - p.Lys896Glu (Ensembl:ENST00000251973) - c.2686A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1158114465 | 896 | K>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37492499T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492499T>A Locations: - p.Lys896Met (Ensembl:ENST00000251973) - c.2687A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs770249362 | 896 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000022.11:g.37492498C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492498C>A Locations: - p.Lys896Asn (Ensembl:ENST00000251973) - c.2688G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs775837657 | 896 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000022.11:g.37492500T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492500T>G Locations: - p.Lys896Gln (Ensembl:ENST00000251973) - c.2686A>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52656931 rs1158114465 | 896 | K>R | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.58) Somatic: Yes Accession: NC_000022.11:g.37492499T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492499T>C Locations: - p.Lys896Arg (Ensembl:ENST00000251973) - c.2687A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
TCGA novel | 896 | K>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000022.11:g.37492501del Consequence type: frameshift Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492501del Locations: - c.2685del (NCI-TCGA:ENST00000251973) - p.K896Rfs*9 (NCI-TCGA:ENST00000251973) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1681458607 | 899 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37492490G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492490G>C Locations: - p.Pro899Arg (Ensembl:ENST00000251973) - c.2696C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1382672416 | 899 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37492491G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492491G>T Locations: - p.Pro899Thr (Ensembl:ENST00000251973) - c.2695C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs760062870 | 901 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000022.11:g.37492485T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492485T>C Locations: - p.Thr901Ala (Ensembl:ENST00000251973) - c.2701A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1442162760 | 901 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37492484G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492484G>A Locations: - p.Thr901Ile (Ensembl:ENST00000251973) - c.2702C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs188225081 | 902 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: No Population frequencies: - MAF: 0.000784929 (1000Genomes) Accession: NC_000022.11:g.37492481G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492481G>A Locations: - p.Pro902Leu (Ensembl:ENST00000251973) - c.2705C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1201756278 | 902 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000022.11:g.37492482G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492482G>A Locations: - p.Pro902Ser (Ensembl:ENST00000251973) - c.2704C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922838493 | 903 | G>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37492479C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492479C>A Locations: - p.Gly903Trp (Ensembl:ENST00000251973) - c.2707G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs200604009 | 905 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000022.11:g.37492473C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492473C>G Locations: - p.Gly905Arg (Ensembl:ENST00000251973) - c.2713G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs200604009 | 905 | G>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.85) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000022.11:g.37492473C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492473C>T Locations: - p.Gly905Ser (Ensembl:ENST00000251973) - c.2713G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095516 | 906 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492469C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492469C>T Locations: - p.Ser906Asn (cosmic curated:ENST00000251973) - c.2717G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs778483575 | 907 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37492466C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492466C>T Locations: - p.Arg907Lys (Ensembl:ENST00000251973) - c.2720G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs374847054 | 909 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37492461G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492461G>C Locations: - p.Arg909Gly (Ensembl:ENST00000251973) - c.2725C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs780025389 | 909 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000022.11:g.37492460C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492460C>T Locations: - p.Arg909Gln (Ensembl:ENST00000251973) - c.2726G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs374847054 | 909 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492461G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492461G>A Locations: - p.Arg909Trp (Ensembl:ENST00000251973) - c.2725C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922837501 | 913 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37492448T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492448T>G Locations: - p.Glu913Ala (Ensembl:ENST00000251973) - c.2738A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1335952575 | 913 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37492449C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492449C>T Locations: - p.Glu913Lys (Ensembl:ENST00000251973) - c.2737G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1262605832 | 914 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37492445G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492445G>A Locations: - p.Ser914Phe (Ensembl:ENST00000251973) - c.2741C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657729 | 915 | V>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492443C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492443C>A Locations: - p.Val915Phe (cosmic curated:ENST00000251973) - c.2743G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1396453709 | 915 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.37492443C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492443C>G Locations: - p.Val915Leu (Ensembl:ENST00000251973) - c.2743G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1376292899 | 916 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000022.11:g.37492439C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492439C>T Locations: - p.Gly916Glu (Ensembl:ENST00000251973) - c.2747G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660820 | 916 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37492439C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37492439C>A Locations: - p.Gly916Val (cosmic curated:ENST00000251973) - c.2747G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs750434059 | 917 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000022.11:g.37492435C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37492435C>A Locations: - p.Lys917Asn (Ensembl:ENST00000251973) - c.2751G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52656823 | 918 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491865C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491865C>A Locations: - p.Lys918Asn (cosmic curated:ENST00000251973) - c.2754G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1210385717 | 920 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.701) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491860C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491860C>T Locations: - p.Cys920Tyr (Ensembl:ENST00000251973) - c.2759G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1316997109 | 921 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491858G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491858G>T Locations: - p.Leu921Met (Ensembl:ENST00000251973) - c.2761C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922814765 | 921 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491857A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491857A>T Locations: - p.Leu921Gln (Ensembl:ENST00000251973) - c.2762T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs367817035 | 922 | L>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491855G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491855G>T Locations: - p.Leu922Met (Ensembl:ENST00000251973) - c.2764C>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs367817035 | 922 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491855G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491855G>C Locations: - p.Leu922Val (Ensembl:ENST00000251973) - c.2764C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922814490 | 923 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37491852C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491852C>G Locations: - p.Glu923Gln (Ensembl:ENST00000251973) - c.2767G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922814371 | 924 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491849G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491849G>T Locations: - p.Leu924Met (Ensembl:ENST00000251973) - c.2770C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659120 | 925 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491845C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491845C>T Locations: - p.Gly925Asp (cosmic curated:ENST00000251973) - c.2774G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1488316130 | 925 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37491846C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491846C>T Locations: - p.Gly925Ser (Ensembl:ENST00000251973) - c.2773G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs146425454 | 927 | R>G | 1000Genomes ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.24) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37491840G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491840G>C Locations: - p.Arg927Gly (Ensembl:ENST00000251973) - c.2779C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV99324713 | 927 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000022.11:g.37491839C>A Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491839C>A Locations: - p.R927L (NCI-TCGA:ENST00000251973) - p.Arg927Leu (cosmic curated:ENST00000251973) - c.2780G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1215328517 | 927 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37491839C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491839C>T Locations: - p.Arg927Gln (Ensembl:ENST00000251973) - c.2780G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs146425454 | 927 | R>W | 1000Genomes ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37491840G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491840G>A Locations: - p.Arg927Trp (Ensembl:ENST00000251973) - c.2779C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922813515 | 928 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37491836C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491836C>T Locations: - p.Gly928Asp (Ensembl:ENST00000251973) - c.2783G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145750066 | 928 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000022.11:g.37491837C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491837C>T Locations: - p.Gly928Ser (Ensembl:ENST00000251973) - c.2782G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs147081604 | 930 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491830C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491830C>A Locations: - p.Arg930Leu (Ensembl:ENST00000251973) - c.2789G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105095490 | 930 | R>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491829-37491832CCGC>ATTA Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491829-37491832CCGC>ATTA Locations: - p.Arg930Asn (cosmic curated:ENST00000251973) - c.2787_2790delinsTAAT (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs147081604 | 930 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491830C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491830C>T Locations: - p.Arg930Gln (Ensembl:ENST00000251973) - c.2789G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs759948361 | 930 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491831G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491831G>A Locations: - p.Arg930Trp (Ensembl:ENST00000251973) - c.2788C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1467577558 | 931 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37491826C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491826C>G Locations: - p.Glu931Asp (Ensembl:ENST00000251973) - c.2793G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs368317452 | 931 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491828C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491828C>T Locations: - p.Glu931Lys (Ensembl:ENST00000251973) - c.2791G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105095488 | 933 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491821A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491821A>G Locations: - p.Val933Ala (cosmic curated:ENST00000251973) - c.2798T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs750814798 | 933 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000022.11:g.37491822C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491822C>G Locations: - p.Val933Leu (Ensembl:ENST00000251973) - c.2797G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1476729863 | 934 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37491819G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491819G>A Locations: - p.Gln934Ter (Ensembl:ENST00000251973) - c.2800C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1199409257 | 934 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37491817C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491817C>G Locations: - p.Gln934His (Ensembl:ENST00000251973) - c.2802G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1247948624 | 934 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491818T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491818T>G Locations: - p.Gln934Pro (Ensembl:ENST00000251973) - c.2801A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1247948624 | 934 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000022.11:g.37491818T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491818T>C Locations: - p.Gln934Arg (Ensembl:ENST00000251973) - c.2801A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095487 | 934 | Q>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491817-37491819CTG>GGT Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491817-37491819CTG>GGT Locations: - p.Gln934Thr (cosmic curated:ENST00000251973) - c.2800_2802delinsACC (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1476946377 | 935 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.37491816T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491816T>C Locations: - p.Asn935Asp (Ensembl:ENST00000251973) - c.2803A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658514 rs773684555 | 935 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.19) - PolyPhen: benign (0.025) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.000008026 (gnomAD) Accession: NC_000022.11:g.37491814G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491814G>C Locations: - p.N935K (NCI-TCGA:ENST00000251973) - p.Asn935Lys (Ensembl:ENST00000251973) - c.2805C>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105095486 rs1236350442 | 935 | N>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000022.11:g.37491815T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491815T>G Locations: - p.Asn935Thr (Ensembl:ENST00000251973) - c.2804A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs762662124 | 936 | E>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37491811C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491811C>G Locations: - p.Glu936Asp (Ensembl:ENST00000251973) - c.2808G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52659042 | 936 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491813C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491813C>T Locations: - p.Glu936Lys (cosmic curated:ENST00000251973) - c.2806G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922810981 | 937 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491809A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491809A>G Locations: - p.Ile937Thr (Ensembl:ENST00000251973) - c.2810T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs769584445 | 938 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491806T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491806T>C Locations: - p.Tyr938Cys (Ensembl:ENST00000251973) - c.2813A>G (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs775342276 | 938 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37491807A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491807A>G Locations: - p.Tyr938His (Ensembl:ENST00000251973) - c.2812T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs769584445 | 938 | Y>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491806T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491806T>G Locations: - p.Tyr938Ser (Ensembl:ENST00000251973) - c.2813A>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105095501 rs1276704446 | 939 | P>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37491804G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491804G>T Locations: - p.Pro939Thr (Ensembl:ENST00000251973) - c.2815C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV108042599 rs1376806433 | 941 | V>I | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000022.11:g.37491798C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491798C>T Locations: - p.Val941Ile (Ensembl:ENST00000251973) - c.2821G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095461 | 942 | I>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491794A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491794A>G Locations: - p.Ile942Thr (cosmic curated:ENST00000251973) - c.2825T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1329963752 | 943 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.39) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37491792G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491792G>A Locations: - p.His943Tyr (Ensembl:ENST00000251973) - c.2827C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145749956 | 944 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491788A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491788A>T Locations: - p.Val944Glu (Ensembl:ENST00000251973) - c.2831T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095421 | 944 | V>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491788A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491788A>C Locations: - p.Val944Gly (cosmic curated:ENST00000251973) - c.2831T>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs747019552 | 944 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491789C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491789C>T Locations: - p.Val944Met (Ensembl:ENST00000251973) - c.2830G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922809720 | 945 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37491786C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491786C>A Locations: - p.Glu945Ter (Ensembl:ENST00000251973) - c.2833G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601806660 | 945 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491785T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491785T>C Locations: - p.Glu945Gly (Ensembl:ENST00000251973) - c.2834A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922809720 | 945 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491786C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491786C>G Locations: - p.Glu945Gln (Ensembl:ENST00000251973) - c.2833G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1449522956 | 946 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37491782A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491782A>G Locations: - p.Val946Ala (Ensembl:ENST00000251973) - c.2837T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs777803433 | 947 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491780T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491780T>C Locations: - p.Thr947Ala (Ensembl:ENST00000251973) - c.2839A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs758543476 | 947 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491779G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491779G>A Locations: - p.Thr947Ile (Ensembl:ENST00000251973) - c.2840C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs758543476 | 947 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491779G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491779G>T Locations: - p.Thr947Asn (Ensembl:ENST00000251973) - c.2840C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325207 | 948 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491777C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491777C>A Locations: - p.Glu948Ter (cosmic curated:ENST00000251973) - c.2842G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660402 rs779045150 | 949 | K>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37491772C>A, NC_000022.11:g.37491772C>G Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491772C>A, NC_000022.11:g.37491772C>G Locations: - p.Lys949Asn (cosmic curated:ENST00000251973) - c.2847G>T (cosmic curated:ENST00000251973) - p.Lys949Asn (Ensembl:ENST00000251973) - c.2847G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095460 | 950 | N>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491770T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491770T>A Locations: - p.Asn950Ile (cosmic curated:ENST00000251973) - c.2849A>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs754109109 | 951 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491767A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491767A>G Locations: - p.Val951Ala (Ensembl:ENST00000251973) - c.2852T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs570147231 | 951 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000022.11:g.37491768C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491768C>T Locations: - p.Val951Ile (Ensembl:ENST00000251973) - c.2851G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV105095459 rs201030086 | 952 | R>G | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37491765G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491765G>C Locations: - p.Arg952Gly (Ensembl:ENST00000251973) - c.2854C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325490 | 952 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491764C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491764C>A Locations: - p.Arg952Leu (cosmic curated:ENST00000251973) - c.2855G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325515 rs750978591 | 952 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37491764C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491764C>T Locations: - p.Arg952Gln (Ensembl:ENST00000251973) - c.2855G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs201030086 | 952 | R>W | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491765G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491765G>A Locations: - p.Arg952Trp (Ensembl:ENST00000251973) - c.2854C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs2145749913 | 953 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000022.11:g.37491760T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491760T>A Locations: - p.Glu953Asp (Ensembl:ENST00000251973) - c.2859A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660052 rs866189318 | 953 | E>K | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated (0.43) Somatic: Yes Accession: NC_000022.11:g.37491762C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491762C>T Locations: - p.Glu953Lys (Ensembl:ENST00000251973) - c.2857G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145749914 | 953 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37491761T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491761T>A Locations: - p.Glu953Val (Ensembl:ENST00000251973) - c.2858A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095458 | 954 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491758A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491758A>G Locations: - p.Val954Ala (cosmic curated:ENST00000251973) - c.2861T>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922808170 | 954 | V>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000022.11:g.37491759C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491759C>A Locations: - p.Val954Phe (Ensembl:ENST00000251973) - c.2860G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145749905 | 955 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491756T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491756T>C Locations: - p.Arg955Gly (Ensembl:ENST00000251973) - c.2863A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs866859332 | 955 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491393C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491393C>A Locations: - p.Arg955Ser (Ensembl:ENST00000251973) - c.2865G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145749905 | 955 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491756T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491756T>A Locations: - p.Arg955Trp (Ensembl:ENST00000251973) - c.2863A>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145748592 | 956 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37491392C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491392C>T Locations: - p.Gly956Ser (Ensembl:ENST00000251973) - c.2866G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1280391845 | 956 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37491391C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491391C>A Locations: - p.Gly956Val (Ensembl:ENST00000251973) - c.2867G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1214418943 | 958 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491385A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491385A>T Locations: - p.Leu958Gln (Ensembl:ENST00000251973) - c.2873T>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922768189 | 959 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37491382C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491382C>A Locations: - p.Gly959Val (Ensembl:ENST00000251973) - c.2876G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1418352611 | 960 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491379C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491379C>A Locations: - p.Arg960Leu (Ensembl:ENST00000251973) - c.2879G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1418352611 | 960 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491379C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491379C>G Locations: - p.Arg960Pro (Ensembl:ENST00000251973) - c.2879G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659806 rs1418352611 | 960 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000022.11:g.37491379C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491379C>T Locations: - p.Arg960Gln (Ensembl:ENST00000251973) - c.2879G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1406830755 | 960 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491380G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491380G>A Locations: - p.Arg960Trp (Ensembl:ENST00000251973) - c.2878C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs757872768 | 961 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37491376G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491376G>A Locations: - p.Pro961Leu (Ensembl:ENST00000251973) - c.2882C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1188845325 | 961 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37491377G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491377G>A Locations: - p.Pro961Ser (Ensembl:ENST00000251973) - c.2881C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1261380791 | 962 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491374C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491374C>T Locations: - p.Gly962Ser (Ensembl:ENST00000251973) - c.2884G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752206981 | 962 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491373C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491373C>A Locations: - p.Gly962Val (Ensembl:ENST00000251973) - c.2885G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922767123 | 963 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000022.11:g.37491369C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491369C>G Locations: - p.Trp963Cys (Ensembl:ENST00000251973) - c.2889G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs866983217 | 964 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491367C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491367C>A Locations: - p.Arg964Leu (Ensembl:ENST00000251973) - c.2891G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs866983217 | 964 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37491367C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491367C>T Locations: - p.Arg964Gln (Ensembl:ENST00000251973) - c.2891G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs867492441 | 964 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491368G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491368G>A Locations: - p.Arg964Trp (Ensembl:ENST00000251973) - c.2890C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs571217648 | 965 | D>Y | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37491365C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491365C>A Locations: - p.Asp965Tyr (Ensembl:ENST00000251973) - c.2893G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655558 | 968 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491356G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491356G>C Locations: - p.Leu968Val (cosmic curated:ENST00000251973) - c.2902C>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs187194563 | 970 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37491349C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491349C>A Locations: - p.Arg970Leu (Ensembl:ENST00000251973) - c.2909G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs187194563 | 970 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37491349C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491349C>T Locations: - p.Arg970Gln (Ensembl:ENST00000251973) - c.2909G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1220042061 | 970 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491350G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491350G>A Locations: - p.Arg970Trp (Ensembl:ENST00000251973) - c.2908C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922766226 | 972 | C>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37491342G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491342G>T Locations: - p.Cys972Ter (Ensembl:ENST00000251973) - c.2916C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs766077944 | 972 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491344A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491344A>G Locations: - p.Cys972Arg (Ensembl:ENST00000251973) - c.2914T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs375242212 | 973 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37491341G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491341G>A Locations: - p.Arg973Cys (Ensembl:ENST00000251973) - c.2917C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs375242212 | 973 | R>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000022.11:g.37491341G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491341G>C Locations: - p.Arg973Gly (Ensembl:ENST00000251973) - c.2917C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs772992149 | 973 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37491340C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491340C>T Locations: - p.Arg973His (Ensembl:ENST00000251973) - c.2918G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1382278072 | 974 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.37491337C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491337C>T Locations: - p.Gly974Asp (Ensembl:ENST00000251973) - c.2921G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99052987 | 974 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491337C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491337C>A Locations: - p.Gly974Val (cosmic curated:ENST00000251973) - c.2921G>T (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52657160 rs761759300 | 975 | S>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491334G>T, NC_000022.11:g.37491334G>C Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491334G>T, NC_000022.11:g.37491334G>C Locations: - p.Ser975Ter (cosmic curated:ENST00000251973) - c.2924C>A (cosmic curated:ENST00000251973) - p.Ser975Ter (Ensembl:ENST00000251973) - c.2924C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs761759300 | 975 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.37491334G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491334G>A Locations: - p.Ser975Leu (Ensembl:ENST00000251973) - c.2924C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs774390573 | 977 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000022.11:g.37491329G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491329G>T Locations: - p.Gln977Lys (Ensembl:ENST00000251973) - c.2929C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1169684575 | 977 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.37491328T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491328T>C Locations: - p.Gln977Arg (Ensembl:ENST00000251973) - c.2930A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922765261 | 978 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.37491326C>A, NC_000022.11:g.37491326C>G Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491326C>A, NC_000022.11:g.37491326C>G Locations: - p.Val978Leu (Ensembl:ENST00000251973) - c.2932G>T (Ensembl:ENST00000251973) - c.2932G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1463901551 | 981 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.305) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.37491317C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491317C>T Locations: - p.Gly981Arg (Ensembl:ENST00000251973) - c.2941G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1463901551 | 981 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.8) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491317C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491317C>A Locations: - p.Gly981Trp (Ensembl:ENST00000251973) - c.2941G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922764592 | 983 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491310G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491310G>T Locations: - p.Pro983His (Ensembl:ENST00000251973) - c.2948C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922764592 | 983 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491310G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491310G>C Locations: - p.Pro983Arg (Ensembl:ENST00000251973) - c.2948C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105095539 | 985 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491303-37491304GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491303-37491304GG>AA Locations: - p.Ser985Phe (cosmic curated:ENST00000251973) - c.2954_2955delinsTT (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922764226 | 986 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37491301C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491301C>T Locations: - p.Trp986Ter (Ensembl:ENST00000251973) - c.2957G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922764132 | 986 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37491300C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491300C>G Locations: - p.Trp986Cys (Ensembl:ENST00000251973) - c.2958G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922764226 | 986 | W>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491301C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491301C>A Locations: - p.Trp986Leu (Ensembl:ENST00000251973) - c.2957G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658901 | 987 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491299C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491299C>G Locations: - p.Val987Leu (cosmic curated:ENST00000251973) - c.2959G>C (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145748471 | 987 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491299C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491299C>T Locations: - p.Val987Met (Ensembl:ENST00000251973) - c.2959G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs866534007 | 988 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37491296G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491296G>A Locations: - p.Gln988Ter (Ensembl:ENST00000251973) - c.2962C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1429156796 | 988 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000022.11:g.37491294C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491294C>G Locations: - p.Gln988His (Ensembl:ENST00000251973) - c.2964G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1266765777 | 990 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37491290G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491290G>A Locations: - p.Pro990Ser (Ensembl:ENST00000251973) - c.2968C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1266765777 | 990 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.352) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491290G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491290G>T Locations: - p.Pro990Thr (Ensembl:ENST00000251973) - c.2968C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1220285056 | 991 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491286G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491286G>T Locations: - p.Ala991Asp (Ensembl:ENST00000251973) - c.2972C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs769913613 | 991 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000005639 (gnomAD) Accession: NC_000022.11:g.37491287C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491287C>T Locations: - p.A991T (NCI-TCGA:ENST00000251973) - p.Ala991Thr (Ensembl:ENST00000251973) - c.2971G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1220285056 | 991 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.37491286G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491286G>A Locations: - p.Ala991Val (Ensembl:ENST00000251973) - c.2972C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV105821421 rs1922763334 | 992 | H>R | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.37491283T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491283T>C Locations: - p.His992Arg (Ensembl:ENST00000251973) - c.2975A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1254254046 | 993 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491281C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491281C>T Locations: - p.Glu993Lys (Ensembl:ENST00000251973) - c.2977G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1198374842 | 994 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491278A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491278A>G Locations: - p.Trp994Arg (Ensembl:ENST00000251973) - c.2980T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922762994 | 995 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.337) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.37491275C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491275C>T Locations: - p.Gly995Arg (Ensembl:ENST00000251973) - c.2983G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs979594668 | 997 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000022.11:g.37491269C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491269C>A Locations: - p.Ala997Ser (Ensembl:ENST00000251973) - c.2989G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52659062 rs979594668 | 997 | A>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000022.11:g.37491269C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491269C>T Locations: - p.Ala997Thr (Ensembl:ENST00000251973) - c.2989G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV104574682 | 1000 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491260G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491260G>T Locations: - p.Leu1000Met (cosmic curated:ENST00000251973) - c.2998C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922762359 | 1000 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491260G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491260G>C Locations: - p.Leu1000Val (Ensembl:ENST00000251973) - c.2998C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922762245 | 1001 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.461) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000022.11:g.37491257C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491257C>T Locations: - p.Ala1001Thr (Ensembl:ENST00000251973) - c.3001G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs548396821 | 1002 | K>R | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000022.11:g.37491253T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491253T>C Locations: - p.Lys1002Arg (Ensembl:ENST00000251973) - c.3005A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922762034 | 1003 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491251C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491251C>T Locations: - p.Val1003Met (Ensembl:ENST00000251973) - c.3007G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs752155631 | 1004 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491247A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491247A>G Locations: - p.Val1004Ala (Ensembl:ENST00000251973) - c.3011T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658296 rs867607360 | 1005 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.37491245G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491245G>A Locations: - p.Arg1005Cys (Ensembl:ENST00000251973) - c.3013C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs964210648 | 1005 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491244C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491244C>T Locations: - p.Arg1005His (Ensembl:ENST00000251973) - c.3014G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs964210648 | 1005 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491244C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491244C>A Locations: - p.Arg1005Leu (Ensembl:ENST00000251973) - c.3014G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs867607360 | 1005 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491245G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491245G>T Locations: - p.Arg1005Ser (Ensembl:ENST00000251973) - c.3013C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325400 rs1008908544 | 1006 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: tolerated (0.16) - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.0000116 (gnomAD) Accession: NC_000022.11:g.37491242C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491242C>T Locations: - p.G1006S (NCI-TCGA:ENST00000251973) - p.Gly1006Ser (Ensembl:ENST00000251973) - c.3016G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs753305136 | 1007 | R>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000022.11:g.37491239G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491239G>A Locations: - p.Arg1007Cys (Ensembl:ENST00000251973) - c.3019C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
COSV52656051 rs367945431 | 1007 | R>H | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000022.11:g.37491238C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491238C>T Locations: - p.Arg1007His (Ensembl:ENST00000251973) - c.3020G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs367945431 | 1007 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000022.11:g.37491238C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491238C>A Locations: - p.Arg1007Leu (Ensembl:ENST00000251973) - c.3020G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs367945431 | 1007 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37491238C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491238C>G Locations: - p.Arg1007Pro (Ensembl:ENST00000251973) - c.3020G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922760565 | 1010 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.37491230G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491230G>T Locations: - p.Gln1010Lys (Ensembl:ENST00000251973) - c.3028C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922760457 | 1010 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491229T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491229T>C Locations: - p.Gln1010Arg (Ensembl:ENST00000251973) - c.3029A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655238 | 1011 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491227-37491228CC>AT Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491227-37491228CC>AT Locations: - p.Glu1011Ter (cosmic curated:ENST00000251973) - c.3030_3031delinsAT (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52655582 | 1013 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491220G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491220G>T Locations: - p.Ala1013Asp (cosmic curated:ENST00000251973) - c.3038C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV106350238 rs374790050 | 1013 | A>T | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000022.11:g.37491221C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491221C>T Locations: - p.Ala1013Thr (Ensembl:ENST00000251973) - c.3037G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1922759916 | 1013 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37491220G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491220G>A Locations: - p.Ala1013Val (Ensembl:ENST00000251973) - c.3038C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52660033 rs1377342033 | 1014 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001113 (gnomAD) Accession: NC_000022.11:g.37491218G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491218G>A Locations: - p.R1014C (NCI-TCGA:ENST00000251973) - p.Arg1014Cys (Ensembl:ENST00000251973) - c.3040C>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1174037442 | 1014 | R>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.37491217C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491217C>T Locations: - p.Arg1014His (Ensembl:ENST00000251973) - c.3041G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1174037442 | 1014 | R>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491217C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491217C>A Locations: - p.Arg1014Leu (Ensembl:ENST00000251973) - c.3041G>T (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs898576190 | 1015 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.37491215G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491215G>A Locations: - p.Leu1015Phe (Ensembl:ENST00000251973) - c.3043C>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs898576190 | 1015 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.37491215G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491215G>C Locations: - p.Leu1015Val (Ensembl:ENST00000251973) - c.3043C>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1049594671 | 1016 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491212C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491212C>T Locations: - p.Val1016Met (Ensembl:ENST00000251973) - c.3046G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1456689519 | 1019 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.37491202T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491202T>G Locations: - p.Glu1019Ala (Ensembl:ENST00000251973) - c.3056A>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1253112030 | 1019 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.37491201C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491201C>A Locations: - p.Glu1019Asp (Ensembl:ENST00000251973) - c.3057G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs200553561 | 1019 | E>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00137363 (1000Genomes) Accession: NC_000022.11:g.37491203C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491203C>G Locations: - p.Glu1019Gln (Ensembl:ENST00000251973) - c.3055G>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768604345 | 1020 | C>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000022.11:g.37491199C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491199C>A Locations: - p.Cys1020Phe (Ensembl:ENST00000251973) - c.3059G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601805997 | 1020 | C>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000022.11:g.37491200A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491200A>C Locations: - p.Cys1020Gly (Ensembl:ENST00000251973) - c.3058T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601805997 | 1020 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000022.11:g.37491200A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491200A>G Locations: - p.Cys1020Arg (Ensembl:ENST00000251973) - c.3058T>C (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs768604345 | 1020 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.37491199C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491199C>T Locations: - p.Cys1020Tyr (Ensembl:ENST00000251973) - c.3059G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs2145748325 | 1021 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.15) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37491196C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491196C>T Locations: - p.Gly1021Asp (Ensembl:ENST00000251973) - c.3062G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325385 rs374528990 | 1021 | G>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Accession: NC_000022.11:g.37491197C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491197C>T Locations: - p.Gly1021Ser (Ensembl:ENST00000251973) - c.3061G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52658563 | 1022 | S>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491194T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491194T>C Locations: - p.Ser1022Gly (cosmic curated:ENST00000251973) - c.3064A>G (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1212373204 | 1023 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000022.11:g.37491191T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491191T>C Locations: - p.Ser1023Gly (Ensembl:ENST00000251973) - c.3067A>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs770011081 | 1023 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000022.11:g.37491190C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491190C>A Locations: - p.Ser1023Ile (Ensembl:ENST00000251973) - c.3068G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs746143217 | 1025 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37491184C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491184C>G Locations: - p.Gly1025Ala (Ensembl:ENST00000251973) - c.3074G>C (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1237872881 | 1025 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37491185C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491185C>A Locations: - p.Gly1025Cys (Ensembl:ENST00000251973) - c.3073G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV107248647 rs151290630 | 1026 | C>Y | Benign (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated - low confidence (0.51) Somatic: Yes Population frequencies: - MAF: 0.00274725 (1000Genomes) Accession: NC_000022.11:g.37491181C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491181C>T Locations: - p.Cys1026Tyr (Ensembl:ENST00000251973) - c.3077G>A (Ensembl:ENST00000251973) Source type: large scale study | |||||||
rs1922755896 | 1027 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000022.11:g.37491179G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491179G>T Locations: - p.Pro1027Thr (Ensembl:ENST00000251973) - c.3079C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1311345436 | 1029 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000022.11:g.37491172C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491172C>T Locations: - p.Ser1029Asn (Ensembl:ENST00000251973) - c.3086G>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs868214058 | 1029 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37491171G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491171G>T Locations: - p.Ser1029Arg (Ensembl:ENST00000251973) - c.3087C>A (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV52654498 rs1569161077 | 1030 | S>I | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37491169C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491169C>A Locations: - p.Ser1030Ile (Ensembl:ENST00000251973) - c.3089G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV106350315 | 1030 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37491169C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000022.11:g.37491169C>T Locations: - p.Ser1030Asn (cosmic curated:ENST00000251973) - c.3089G>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1601805961 | 1030 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37491168A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491168A>C Locations: - p.Ser1030Arg (Ensembl:ENST00000251973) - c.3090T>G (Ensembl:ENST00000251973) Source type: large scale study Cross-references: | |||||||
COSV99325335 | 1032 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37491163G>T Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491163G>T Locations: - p.A1032D (NCI-TCGA:ENST00000251973) - p.Ala1032Asp (cosmic curated:ENST00000251973) - c.3095C>A (cosmic curated:ENST00000251973) Source type: large scale study Cross-references: | |||||||
rs1453112584 | 1033 | *>L | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000022.11:g.37491160C>A Codon: TGA/TTA Consequence type: stop lost Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37491160C>A Locations: - p.Ter1033LeuextTer20 (Ensembl:ENST00000251973) - c.3098G>T (Ensembl:ENST00000251973) Source type: large scale study Cross-references: |