Q9Y6G5 · COMDA_HUMAN
- ProteinCOMM domain-containing protein 10
- GeneCOMMD10
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids202 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs545406867 | 2 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.116085057C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085057C>T Locations: - p.Ala2Val (Ensembl:ENST00000274458) - c.5C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs894944869 | 3 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.116085059G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085059G>T Locations: - p.Val3Phe (Ensembl:ENST00000274458) - c.7G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs894944869 | 3 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.116085059G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085059G>A Locations: - p.Val3Ile (Ensembl:ENST00000274458) - c.7G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs894944869 | 3 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.116085059G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085059G>C Locations: - p.Val3Leu (Ensembl:ENST00000274458) - c.7G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs759898407 | 4 | P>S | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000005.10:g.116085062C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085062C>T Locations: - p.Pro4Ser (Ensembl:ENST00000274458) - c.10C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1378569089 | 5 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.116085066C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085066C>G Locations: - p.Ala5Gly (Ensembl:ENST00000274458) - c.14C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs765538117 | 5 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000005.10:g.116085065G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085065G>A Locations: - p.Ala5Thr (Ensembl:ENST00000274458) - c.13G>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1378569089 | 5 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.116085066C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085066C>T Locations: - p.Ala5Val (Ensembl:ENST00000274458) - c.14C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs764035865 | 7 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.116085072T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085072T>C Locations: - p.Leu7Pro (Ensembl:ENST00000274458) - c.20T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1381519760 | 7 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000005.10:g.116085071C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085071C>G Locations: - p.Leu7Val (Ensembl:ENST00000274458) - c.19C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs767938566 | 8 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000005.10:g.116085076C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085076C>G Locations: - p.Ile8Met (Ensembl:ENST00000274458) - c.24C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1260825768 | 8 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116085075T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085075T>C Locations: - p.Ile8Thr (Ensembl:ENST00000274458) - c.23T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs757640569 | 8 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000005.10:g.116085074A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085074A>G Locations: - p.Ile8Val (Ensembl:ENST00000274458) - c.22A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs755814048 | 9 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000005.10:g.116085077C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085077C>G Locations: - p.Leu9Val (Ensembl:ENST00000274458) - c.25C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs376346392 | 10 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000005.10:g.116085081G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085081G>C Locations: - p.Arg10Pro (Ensembl:ENST00000274458) - c.29G>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs376346392 | 10 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000005.10:g.116085081G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085081G>A Locations: - p.Arg10Gln (Ensembl:ENST00000274458) - c.29G>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs779650552 | 10 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116085080C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085080C>T Locations: - p.Arg10Trp (Ensembl:ENST00000274458) - c.28C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs778217936 | 11 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116085083G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085083G>T Locations: - p.Glu11Ter (Ensembl:ENST00000274458) - c.31G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs530307368 | 11 | E>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.116085085G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085085G>C Locations: - p.Glu11Asp (Ensembl:ENST00000274458) - c.33G>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs773187074 | 13 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.116085090C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085090C>A Locations: - p.Pro13His (Ensembl:ENST00000274458) - c.38C>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs773187074 | 13 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116085090C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085090C>T Locations: - p.Pro13Leu (Ensembl:ENST00000274458) - c.38C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs770804923 | 14 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116085093G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085093G>A Locations: - p.Ser14Asn (Ensembl:ENST00000274458) - c.41G>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs746765415 | 14 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.116085092A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085092A>C Locations: - p.Ser14Arg (Ensembl:ENST00000274458) - c.40A>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs770804923 | 14 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116085093G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116085093G>C Locations: - p.Ser14Thr (Ensembl:ENST00000274458) - c.41G>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1385956403 | 15 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.116087500G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087500G>C Locations: - p.Met15Ile (Ensembl:ENST00000274458) - c.45G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs774539827 | 15 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.116087498A>C, NC_000005.10:g.116087498A>T Codon: ATG/CTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087498A>C, NC_000005.10:g.116087498A>T Locations: - p.Met15Leu (Ensembl:ENST00000274458) - c.43A>C (Ensembl:ENST00000274458) - c.43A>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs944366806 | 15 | M>T | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116087499T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087499T>C Locations: - p.Met15Thr (Ensembl:ENST00000274458) - c.44T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV107280688 rs774539827 | 15 | M>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000005.10:g.116087498A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087498A>G Locations: - p.Met15Val (Ensembl:ENST00000274458) - c.43A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs181454362 | 16 | K>M | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087502A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087502A>T Locations: - p.Lys16Met (Ensembl:ENST00000274458) - c.47A>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs181454362 | 16 | K>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000005.10:g.116087502A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087502A>G Locations: - p.Lys16Arg (Ensembl:ENST00000274458) - c.47A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV99174605 rs1750143873 | 18 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116087508C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087508C>T Locations: - p.Ala18Val (Ensembl:ENST00000274458) - c.53C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs773722398 | 19 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087511T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087511T>C Locations: - p.Val19Ala (Ensembl:ENST00000274458) - c.56T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs772099312 | 19 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087510G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087510G>C Locations: - p.Val19Leu (Ensembl:ENST00000274458) - c.55G>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57235525 | 20 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000005.10:g.116087513T>C Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087513T>C Locations: - c.58T>C (NCI-TCGA:ENST00000274458) - p.S20P (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs559542713 | 21 | L>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087517T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087517T>C Locations: - p.Leu21Pro (Ensembl:ENST00000274458) - c.62T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750144622 | 22 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.116087519A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087519A>T Locations: - p.Ile22Leu (Ensembl:ENST00000274458) - c.64A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750144800 | 22 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087520T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087520T>C Locations: - p.Ile22Thr (Ensembl:ENST00000274458) - c.65T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750144622 | 22 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116087519A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087519A>G Locations: - p.Ile22Val (Ensembl:ENST00000274458) - c.64A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57233738 | 23 | N>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_000005.10:g.116087522A>C Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087522A>C Locations: - c.67A>C (NCI-TCGA:ENST00000274458) - p.N23H (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57241754 | 23 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000005.10:g.116087524T>A Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087524T>A Locations: - c.69T>A (NCI-TCGA:ENST00000274458) - p.N23K (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs761103254 | 23 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116087523A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087523A>G Locations: - p.Asn23Ser (Ensembl:ENST00000274458) - c.68A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs766795316 | 24 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000005.10:g.116087526C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087526C>A Locations: - p.Ala24Glu (Ensembl:ENST00000274458) - c.71C>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs766795316 | 24 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.116087526C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087526C>G Locations: - p.Ala24Gly (Ensembl:ENST00000274458) - c.71C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1750145171 | 24 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000005.10:g.116087525G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087525G>A Locations: - p.Ala24Thr (Ensembl:ENST00000274458) - c.70G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750145631 | 25 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000005.10:g.116087530A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087530A>G Locations: - p.Ile25Met (Ensembl:ENST00000274458) - c.75A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs754137825 | 25 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000005.10:g.116087528A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087528A>G Locations: - p.Ile25Val (Ensembl:ENST00000274458) - c.73A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs752350926 | 26 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087532A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087532A>G Locations: - p.Asp26Gly (Ensembl:ENST00000274458) - c.77A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs149347900 | 26 | D>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087531G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087531G>C Locations: - p.Asp26His (Ensembl:ENST00000274458) - c.76G>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs149347900 | 26 | D>Y | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087531G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087531G>T Locations: - p.Asp26Tyr (Ensembl:ENST00000274458) - c.76G>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs74348140 | 27 | T>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000005.10:g.116087535C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087535C>T Locations: - p.Thr27Ile (Ensembl:ENST00000274458) - c.80C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs74348140 | 27 | T>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000005.10:g.116087535C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087535C>A Locations: - p.Thr27Lys (Ensembl:ENST00000274458) - c.80C>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs74348140 | 27 | T>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000005.10:g.116087535C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087535C>G Locations: - p.Thr27Arg (Ensembl:ENST00000274458) - c.80C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1341868349 | 29 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087540A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087540A>G Locations: - p.Arg29Gly (Ensembl:ENST00000274458) - c.85A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57238714 COSV57238714,COSV99174511 COSV99174511 | 29 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116087541G>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087541G>T Locations: - c.86G>T (NCI-TCGA:ENST00000274458) - p.R29I (NCI-TCGA:ENST00000274458) Source type: large scale study | |||||||
rs1750146924 | 31 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.116087547C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087547C>G Locations: - p.Pro31Arg (Ensembl:ENST00000274458) - c.92C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1326639986 | 31 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000005.10:g.116087546C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087546C>T Locations: - p.Pro31Ser (Ensembl:ENST00000274458) - c.91C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1409881651 | 32 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116087550G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087550G>A Locations: - p.Arg32Gln (Ensembl:ENST00000274458) - c.95G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57233826 rs1215479730 | 32 | R>W | 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: 0.000003977 (gnomAD) Accession: NC_000005.10:g.116087549C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087549C>T Locations: - p.R32W (NCI-TCGA:ENST00000274458) - p.Arg32Trp (Ensembl:ENST00000274458) - c.94C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1750147450 | 34 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116087555C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087555C>T Locations: - p.Leu34Phe (Ensembl:ENST00000274458) - c.100C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs930207914 | 35 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087558A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087558A>G Locations: - p.Thr35Ala (Ensembl:ENST00000274458) - c.103A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1397108489 | 36 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087562G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087562G>A Locations: - p.R36Q (NCI-TCGA:ENST00000274458) - p.Arg36Gln (Ensembl:ENST00000274458) - c.107G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs768965375 | 36 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087561C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087561C>T Locations: - p.Arg36Trp (Ensembl:ENST00000274458) - c.106C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs748321620 | 37 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.116087564A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087564A>C Locations: - p.Ile37Leu (Ensembl:ENST00000274458) - c.109A>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57235189 rs1750148289 | 39 | Q>* | cosmic curated Ensembl | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.116087570C>T Codon: CAA/TAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087570C>T Locations: - p.Gln39Ter (Ensembl:ENST00000274458) - c.115C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs77776961 | 39 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116087571A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087571A>T Locations: - p.Gln39Leu (Ensembl:ENST00000274458) - c.116A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs77776961 | 39 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116087571A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087571A>C Locations: - p.Gln39Pro (Ensembl:ENST00000274458) - c.116A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
TCGA novel | 40 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087574A>C Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087574A>C Locations: - c.119A>C (NCI-TCGA:ENST00000274458) - p.K40T (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs562138361 | 41 | L>P | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087577T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087577T>C Locations: - p.Leu41Pro (Ensembl:ENST00000274458) - c.122T>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs747571612 | 42 | H>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087579C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087579C>A Locations: - p.His42Asn (Ensembl:ENST00000274458) - c.124C>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs771318731 | 42 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087581C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087581C>G Locations: - p.His42Gln (Ensembl:ENST00000274458) - c.126C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57239732 rs777091905 | 43 | L>P | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116087583T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087583T>C Locations: - p.Leu43Pro (Ensembl:ENST00000274458) - c.128T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs141226616 | 44 | K>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116087585A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116087585A>G Locations: - p.Lys44Glu (Ensembl:ENST00000274458) - c.130A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1308872836 | 45 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000005.10:g.116091080C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091080C>T Locations: - p.Ala45Val (Ensembl:ENST00000274458) - c.134C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs201966138 | 46 | E>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.116091084G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091084G>C Locations: - p.Glu46Asp (Ensembl:ENST00000274458) - c.138G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1269347278 | 47 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116091085A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091085A>T Locations: - p.Ser47Cys (Ensembl:ENST00000274458) - c.139A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1480029311 | 49 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116091092T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091092T>C Locations: - p.Phe49Ser (Ensembl:ENST00000274458) - c.146T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs761440842 | 50 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091094A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091094A>G Locations: - p.Ser50Gly (Ensembl:ENST00000274458) - c.148A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1365014397 | 50 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091095G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091095G>T Locations: - p.Ser50Ile (Ensembl:ENST00000274458) - c.149G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs916044760 | 53 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091105G>C, NC_000005.10:g.116091105G>T Codon: GAG/GAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091105G>C, NC_000005.10:g.116091105G>T Locations: - p.Glu53Asp (Ensembl:ENST00000274458) - c.159G>C (Ensembl:ENST00000274458) - c.159G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750282879 | 53 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091104A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091104A>T Locations: - p.Glu53Val (Ensembl:ENST00000274458) - c.158A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1561594842 | 55 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116091109G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091109G>A Locations: - p.Glu55Lys (Ensembl:ENST00000274458) - c.163G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs750341265 | 56 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116091112A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091112A>G Locations: - p.Lys56Glu (Ensembl:ENST00000274458) - c.166A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs766145196 | 56 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091114A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091114A>T Locations: - p.Lys56Asn (Ensembl:ENST00000274458) - c.168A>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs750341265 | 56 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091112A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091112A>C Locations: - p.Lys56Gln (Ensembl:ENST00000274458) - c.166A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57233455 | 58 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.429) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000005.10:g.116091118C>G Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091118C>G Locations: - c.172C>G (NCI-TCGA:ENST00000274458) - p.Q58E (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs758658527 | 58 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116091120A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091120A>C Locations: - p.Gln58His (Ensembl:ENST00000274458) - c.174A>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs146111323 | 59 | A>E | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.116091122C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091122C>A Locations: - p.Ala59Glu (Ensembl:ENST00000274458) - c.176C>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57234624 rs146111323 | 59 | A>V | Likely benign (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000005.10:g.116091122C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091122C>T Locations: - p.Ala59Val (Ensembl:ENST00000274458) - c.176C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57238515 rs781262047 | 60 | A>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000005.10:g.116091124G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091124G>A Locations: - p.Ala60Thr (Ensembl:ENST00000274458) - c.178G>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs2112710024 | 62 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091131C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091131C>G Locations: - p.Ser62Cys (Ensembl:ENST00000274458) - c.185C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV99174530 | 62 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116091131C>A Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091131C>A Locations: - c.185C>A (NCI-TCGA:ENST00000274458) - p.S62Y (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750284610 | 63 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091134T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091134T>C Locations: - p.Leu63Pro (Ensembl:ENST00000274458) - c.188T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1336397615 | 63 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116091133C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091133C>G Locations: - p.Leu63Val (Ensembl:ENST00000274458) - c.187C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750284820 | 65 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091140A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091140A>C Locations: - p.Lys65Thr (Ensembl:ENST00000274458) - c.194A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1212672819 | 66 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.116091143A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091143A>G Locations: - p.Gln66Arg (Ensembl:ENST00000274458) - c.197A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs35977168 | 67 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.116091147T>G, NC_000005.10:g.116091147T>A Codon: GAT/GAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091147T>G, NC_000005.10:g.116091147T>A Locations: - p.Asp67Glu (Ensembl:ENST00000274458) - c.201T>G (Ensembl:ENST00000274458) - c.201T>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs372358947 | 67 | D>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.619) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116091146A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091146A>T Locations: - p.Asp67Val (Ensembl:ENST00000274458) - c.200A>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs780616495 | 68 | L>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091149T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091149T>C Locations: - p.Leu68Pro (Ensembl:ENST00000274458) - c.203T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1419274426 | 68 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.591) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116091148C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091148C>G Locations: - p.Leu68Val (Ensembl:ENST00000274458) - c.202C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750285520 | 69 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.116091152A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091152A>G Locations: - p.His69Arg (Ensembl:ENST00000274458) - c.206A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs765250954 | 71 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116091158T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091158T>C Locations: - p.Val71Ala (Ensembl:ENST00000274458) - c.212T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs765250954 | 71 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.728) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091158T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091158T>G Locations: - p.Val71Gly (Ensembl:ENST00000274458) - c.212T>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs2112710100 | 71 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000005.10:g.116091157G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091157G>A Locations: - p.Val71Ile (Ensembl:ENST00000274458) - c.211G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs749642942 | 72 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091160C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091160C>T Locations: - p.Leu72Phe (Ensembl:ENST00000274458) - c.214C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs749642942 | 72 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.116091160C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091160C>G Locations: - p.Leu72Val (Ensembl:ENST00000274458) - c.214C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1750286282 | 74 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091167C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091167C>G Locations: - p.Thr74Arg (Ensembl:ENST00000274458) - c.221C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57241268 rs769103610 | 75 | I>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.116091171A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091171A>G Locations: - p.Ile75Met (Ensembl:ENST00000274458) - c.225A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57238478 rs1054410972 | 75 | I>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000005.10:g.116091169A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091169A>G Locations: - p.Ile75Val (Ensembl:ENST00000274458) - c.223A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1285714372 | 76 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000005.10:g.116091172T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091172T>A Locations: - p.Ser76Thr (Ensembl:ENST00000274458) - c.226T>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1207963374 | 77 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091176T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091176T>C Locations: - p.Phe77Ser (Ensembl:ENST00000274458) - c.230T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1030196625 | 78 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.465) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091179T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091179T>G Locations: - p.Ile78Ser (Ensembl:ENST00000274458) - c.233T>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1318977775 | 80 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091185A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091185A>G Locations: - p.Glu80Gly (Ensembl:ENST00000274458) - c.239A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1310796823 | 81 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116091188A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116091188A>G Locations: - p.Gln81Arg (Ensembl:ENST00000274458) - c.242A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs770375919 | 82 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116092546C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092546C>G Locations: - p.Ala82Gly (Ensembl:ENST00000274458) - c.245C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57238895 | 82 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000005.10:g.116092545G>A Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092545G>A Locations: - c.244G>A (NCI-TCGA:ENST00000274458) - p.A82T (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs770375919 | 82 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092546C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092546C>T Locations: - p.Ala82Val (Ensembl:ENST00000274458) - c.245C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1308383242 | 83 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000005.10:g.116092549T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092549T>C Locations: - p.Val83Ala (Ensembl:ENST00000274458) - c.248T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1336197547 | 83 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116092548G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092548G>T Locations: - p.Val83Leu (Ensembl:ENST00000274458) - c.247G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs759398485 | 84 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092552A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092552A>G Locations: - p.Tyr84Cys (Ensembl:ENST00000274458) - c.251A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
TCGA novel rs537786572 | 85 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116092556C>A, NC_000005.10:g.116092556C>G Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092556C>A, NC_000005.10:g.116092556C>G Locations: - c.255C>A (NCI-TCGA:ENST00000274458) - p.H85Q (NCI-TCGA:ENST00000274458) - p.His85Gln (Ensembl:ENST00000274458) - c.255C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs550973441 | 90 | A>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092570C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092570C>A Locations: - p.Ala90Glu (Ensembl:ENST00000274458) - c.269C>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs550973441 | 90 | A>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116092570C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092570C>G Locations: - p.Ala90Gly (Ensembl:ENST00000274458) - c.269C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs550973441 | 90 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000005.10:g.116092570C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092570C>T Locations: - p.Ala90Val (Ensembl:ENST00000274458) - c.269C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs756285400 | 91 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.116092573C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092573C>T Locations: - p.Ala91Val (Ensembl:ENST00000274458) - c.272C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1256128403 | 92 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116092577G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092577G>C Locations: - p.Leu92Phe (Ensembl:ENST00000274458) - c.276G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1377530828 | 93 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116092578C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092578C>T Locations: - p.Gln93Ter (Ensembl:ENST00000274458) - c.277C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1157027320 | 94 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116092581C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092581C>T Locations: - p.Gln94Ter (Ensembl:ENST00000274458) - c.280C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs766510815 | 94 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116092583G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092583G>T Locations: - p.Gln94His (Ensembl:ENST00000274458) - c.282G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1203697012 | 95 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116092584C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092584C>T Locations: - p.Gln95Ter (Ensembl:ENST00000274458) - c.283C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1453201072 | 98 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000005.10:g.116092594A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092594A>G Locations: - p.Asn98Ser (Ensembl:ENST00000274458) - c.293A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs571057040 | 99 | I>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000005.10:g.116092596A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092596A>G Locations: - p.Ile99Val (Ensembl:ENST00000274458) - c.295A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1482030292 | 100 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.116092599C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092599C>A Locations: - p.His100Asn (Ensembl:ENST00000274458) - c.298C>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1262847789 | 101 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092602C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092602C>T Locations: - p.Leu101Phe (Ensembl:ENST00000274458) - c.301C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs755528213 | 102 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.116092605A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092605A>G Locations: - p.Arg102Gly (Ensembl:ENST00000274458) - c.304A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs151325955 | 102 | R>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000005.10:g.116092606G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092606G>C Locations: - p.Arg102Thr (Ensembl:ENST00000274458) - c.305G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs558248470 | 103 | Q>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000005.10:g.116092608C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092608C>G Locations: - p.Gln103Glu (Ensembl:ENST00000274458) - c.307C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs140746680 | 104 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000005.10:g.116092613C>A, NC_000005.10:g.116092613C>G Codon: GAC/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092613C>A, NC_000005.10:g.116092613C>G Locations: - p.Asp104Glu (Ensembl:ENST00000274458) - c.312C>A (Ensembl:ENST00000274458) - c.312C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750334604 | 104 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092612A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092612A>G Locations: - p.Asp104Gly (Ensembl:ENST00000274458) - c.311A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs375816472 | 105 | K>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116092615A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092615A>G Locations: - p.Lys105Arg (Ensembl:ENST00000274458) - c.314A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs746582688 | 106 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092618C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092618C>G Locations: - p.Ala106Gly (Ensembl:ENST00000274458) - c.317C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs746582688 | 106 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000005.10:g.116092618C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092618C>T Locations: - p.Ala106Val (Ensembl:ENST00000274458) - c.317C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1202969929 | 108 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092624C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092624C>G Locations: - p.Ala108Gly (Ensembl:ENST00000274458) - c.323C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57236399 | 108 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000005.10:g.116092623G>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092623G>T Locations: - c.322G>T (NCI-TCGA:ENST00000274458) - p.A108S (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1455530315 | 108 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.116092623G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092623G>A Locations: - p.Ala108Thr (Ensembl:ENST00000274458) - c.322G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750335476 | 110 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.116092629G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092629G>A Locations: - p.Val110Ile (Ensembl:ENST00000274458) - c.328G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs201107215 | 111 | N>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116092632A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092632A>G Locations: - p.Asn111Asp (Ensembl:ENST00000274458) - c.331A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1750335644 | 111 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.116092633A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092633A>G Locations: - p.Asn111Ser (Ensembl:ENST00000274458) - c.332A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57238368 rs914929373 | 112 | T>M | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000005.10:g.116092636C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092636C>T Locations: - p.Thr112Met (Ensembl:ENST00000274458) - c.335C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs914929373 | 112 | T>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092636C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092636C>G Locations: - p.Thr112Arg (Ensembl:ENST00000274458) - c.335C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1229635719 | 113 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116092639G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092639G>A Locations: - p.Trp113Ter (Ensembl:ENST00000274458) - c.338G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs745867369 | 113 | W>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092640G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092640G>T Locations: - p.Trp113Cys (Ensembl:ENST00000274458) - c.339G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
TCGA novel | 113 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092638T>C Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092638T>C Locations: - c.337T>C (NCI-TCGA:ENST00000274458) - p.W113R (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1229635719 | 113 | W>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092639G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092639G>C Locations: - p.Trp113Ser (Ensembl:ENST00000274458) - c.338G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57237691 rs1750336428 | 114 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.827) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116092642C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092642C>T Locations: - p.S114F (NCI-TCGA:ENST00000274458) - p.Ser114Phe (Ensembl:ENST00000274458) - c.341C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs769701802 | 114 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092641T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092641T>C Locations: - p.Ser114Pro (Ensembl:ENST00000274458) - c.340T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750336591 | 115 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092644T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092644T>C Locations: - p.Ser115Pro (Ensembl:ENST00000274458) - c.343T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs762841146 | 116 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.116092649G>A, NC_000005.10:g.116092649G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092649G>A, NC_000005.10:g.116092649G>T Locations: - p.Met116Ile (Ensembl:ENST00000274458) - c.348G>A (Ensembl:ENST00000274458) - c.348G>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs775191934 | 116 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000005.10:g.116092647A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092647A>G Locations: - p.Met116Val (Ensembl:ENST00000274458) - c.346A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1309988493 | 117 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116092650G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092650G>T Locations: - p.Gly117Cys (Ensembl:ENST00000274458) - c.349G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
TCGA novel | 117 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092651G>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092651G>T Locations: - c.350G>T (NCI-TCGA:ENST00000274458) - p.G117V (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs760914074 | 120 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116092660C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092660C>G Locations: - p.Thr120Arg (Ensembl:ENST00000274458) - c.359C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs200380253 | 121 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092663T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092663T>C Locations: - p.Val121Ala (Ensembl:ENST00000274458) - c.362T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1234341234 | 122 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.457) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.116092667A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092667A>C Locations: - p.Glu122Asp (Ensembl:ENST00000274458) - c.366A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs766633557 | 122 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116092665G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092665G>C Locations: - p.Glu122Gln (Ensembl:ENST00000274458) - c.364G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs753944491 | 123 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116092670G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092670G>T Locations: - p.Lys123Asn (Ensembl:ENST00000274458) - c.369G>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV99174553 | 124 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116092672T>G Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092672T>G Locations: - c.371T>G (NCI-TCGA:ENST00000274458) - p.F124C (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs574085904 | 124 | F>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000005.10:g.116092673C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092673C>G Locations: - p.Phe124Leu (Ensembl:ENST00000274458) - c.372C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs753094653 | 125 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092675G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092675G>A Locations: - p.Arg125Gln (Ensembl:ENST00000274458) - c.374G>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs765803405 | 125 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092674C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092674C>T Locations: - p.Arg125Trp (Ensembl:ENST00000274458) - c.373C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1229853458 | 126 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116092677C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092677C>T Locations: - p.Gln126Ter (Ensembl:ENST00000274458) - c.376C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57235859 | 127 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.116092681G>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092681G>T Locations: - c.380G>T (NCI-TCGA:ENST00000274458) - p.R127I (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV104569872 rs758800834 | 127 | R>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000005.10:g.116092681G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092681G>A Locations: - p.Arg127Lys (Ensembl:ENST00000274458) - c.380G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750338164 | 127 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.116092682A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092682A>T Locations: - p.Arg127Ser (Ensembl:ENST00000274458) - c.381A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs758800834 | 127 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116092681G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092681G>C Locations: - p.Arg127Thr (Ensembl:ENST00000274458) - c.380G>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
VAR_061122 COSV57234444 rs1129495 | 128 | I>S | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.116092684T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092684T>G Locations: - p.Ile128Ser (UniProt:Q9Y6G5) Source type: mixed | |||||||
rs1363393717 | 128 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000005.10:g.116092683A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092683A>G Locations: - p.Ile128Val (Ensembl:ENST00000274458) - c.382A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs957169526 | 129 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092686C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092686C>G Locations: - p.Leu129Val (Ensembl:ENST00000274458) - c.385C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1025621738 | 130 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000005.10:g.116092689G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092689G>A Locations: - p.Ala130Thr (Ensembl:ENST00000274458) - c.388G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1164100338 | 130 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116092690C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092690C>T Locations: - p.Ala130Val (Ensembl:ENST00000274458) - c.389C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57233492 rs1296041017 | 131 | P>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.116092692C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092692C>T Locations: - p.Pro131Ser (Ensembl:ENST00000274458) - c.391C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
TCGA novel | 132 | C>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.116092694_116092698del Consequence type: frameshift Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092694_116092698del Locations: - c.393_397del (NCI-TCGA:ENST00000274458) - p.C132Afs*9 (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs756886920 | 132 | C>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116092695T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092695T>G Locations: - p.Cys132Gly (Ensembl:ENST00000274458) - c.394T>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750338942 | 132 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.116092696G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092696G>C Locations: - p.Cys132Ser (Ensembl:ENST00000274458) - c.395G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1750338942 | 132 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.116092696G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116092696G>A Locations: - p.Cys132Tyr (Ensembl:ENST00000274458) - c.395G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1183393349 | 137 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134078T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134078T>C Locations: - p.Val137Ala (Ensembl:ENST00000274458) - c.410T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs376187299 | 137 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134077G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134077G>T Locations: - p.Val137Phe (Ensembl:ENST00000274458) - c.409G>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs376187299 | 137 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000005.10:g.116134077G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134077G>A Locations: - p.Val137Ile (Ensembl:ENST00000274458) - c.409G>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1462125184 | 139 | W>* | TOPMed | ||||
Consequence: missense Somatic: No Accession: NC_000005.10:g.116134085G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134085G>A Locations: - p.Trp139Ter (Ensembl:ENST00000274458) - c.417G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1463571885 | 139 | W>* | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000005.10:g.116134084G>A Codon: TGG/TAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134084G>A Locations: - p.Trp139Ter (Ensembl:ENST00000274458) - c.416G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV99174519 | 139 | W>C | 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_000005.10:g.116134085G>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134085G>T Locations: - c.417G>T (NCI-TCGA:ENST00000274458) - p.W139C (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1398882969 | 139 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134083T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134083T>A Locations: - p.Trp139Arg (Ensembl:ENST00000274458) - c.415T>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs910967671 | 140 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.116134087A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134087A>G Locations: - p.Gln140Arg (Ensembl:ENST00000274458) - c.419A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs146988130 | 142 | N>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116134092A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134092A>G Locations: - p.Asn142Asp (Ensembl:ENST00000274458) - c.424A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57235343 rs1382996563 | 142 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116134094C>A, NC_000005.10:g.116134094C>G Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134094C>A, NC_000005.10:g.116134094C>G Locations: - c.426C>A (NCI-TCGA:ENST00000274458) - p.N142K (NCI-TCGA:ENST00000274458) - p.Asn142Lys (Ensembl:ENST00000274458) - c.426C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs773352383 | 144 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116134100G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134100G>C Locations: - p.Gln144His (Ensembl:ENST00000274458) - c.432G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs775417305 | 145 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134102T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134102T>C Locations: - p.Met145Thr (Ensembl:ENST00000274458) - c.434T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751949934 | 145 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.493) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134101A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134101A>G Locations: - p.Met145Val (Ensembl:ENST00000274458) - c.433A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1315872752 | 147 | H>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116134107C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134107C>G Locations: - p.His147Asp (Ensembl:ENST00000274458) - c.439C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs2112772607 | 147 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.116134109C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134109C>G Locations: - p.His147Gln (Ensembl:ENST00000274458) - c.441C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751950404 | 148 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134111C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134111C>G Locations: - p.Ser148Cys (Ensembl:ENST00000274458) - c.443C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751950282 | 148 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134110T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134110T>C Locations: - p.Ser148Pro (Ensembl:ENST00000274458) - c.442T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751950677 | 149 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.116134114C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134114C>G Locations: - p.Ala149Gly (Ensembl:ENST00000274458) - c.446C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs538653158 | 149 | A>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000005.10:g.116134113G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134113G>A Locations: - p.Ala149Thr (Ensembl:ENST00000274458) - c.445G>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57237251 | 150 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.116134116C>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134116C>T Locations: - c.448C>T (NCI-TCGA:ENST00000274458) - p.Q150* (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751950788 | 150 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.116134116C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134116C>G Locations: - p.Gln150Glu (Ensembl:ENST00000274458) - c.448C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs752024302 | 150 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116134118A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134118A>C Locations: - p.Gln150His (Ensembl:ENST00000274458) - c.450A>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs552174758 | 150 | Q>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.116134117A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134117A>G Locations: - p.Gln150Arg (Ensembl:ENST00000274458) - c.449A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs762191409 | 151 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134120C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134120C>A Locations: - p.Ala151Glu (Ensembl:ENST00000274458) - c.452C>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57236903 | 151 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000005.10:g.116134119G>A Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134119G>A Locations: - c.451G>A (NCI-TCGA:ENST00000274458) - p.A151T (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs762191409 | 151 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116134120C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134120C>T Locations: - p.Ala151Val (Ensembl:ENST00000274458) - c.452C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1316627134 | 152 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134122A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134122A>C Locations: - p.Lys152Gln (Ensembl:ENST00000274458) - c.454A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs767815358 | 152 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000005.10:g.116134123A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134123A>G Locations: - p.Lys152Arg (Ensembl:ENST00000274458) - c.455A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
TCGA novel | 154 | K>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.116134127del Consequence type: frameshift Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134127del Locations: - c.462del (NCI-TCGA:ENST00000274458) - p.K154Nfs*11 (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs138138184 | 154 | K>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116134128A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134128A>C Locations: - p.Lys154Gln (Ensembl:ENST00000274458) - c.460A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751951836 | 154 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116134129A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134129A>C Locations: - p.Lys154Thr (Ensembl:ENST00000274458) - c.461A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1208365445 | 156 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134135C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134135C>T Locations: - p.Pro156Leu (Ensembl:ENST00000274458) - c.467C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1314043352 | 156 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134134C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134134C>T Locations: - p.P156S (NCI-TCGA:ENST00000274458) - p.Pro156Ser (Ensembl:ENST00000274458) - c.466C>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs755717054 | 157 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000005.10:g.116134138A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134138A>G Locations: - p.Gln157Arg (Ensembl:ENST00000274458) - c.470A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57240620 | 158 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.116134141C>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134141C>T Locations: - c.473C>T (NCI-TCGA:ENST00000274458) - p.A158V (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs753266343 | 161 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116134149C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134149C>T Locations: - p.Gln161Ter (Ensembl:ENST00000274458) - c.481C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751953129 | 161 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134150A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134150A>C Locations: - p.Gln161Pro (Ensembl:ENST00000274458) - c.482A>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1428721632 | 162 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116134152C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134152C>T Locations: - p.Leu162Phe (Ensembl:ENST00000274458) - c.484C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1177888903 | 162 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116134153T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134153T>C Locations: - p.Leu162Pro (Ensembl:ENST00000274458) - c.485T>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV99174503 rs1000102901 | 163 | G>* | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.116134155G>T Codon: GGA/TGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134155G>T Locations: - p.Gly163Ter (Ensembl:ENST00000274458) - c.487G>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs779016058 | 163 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116134156G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134156G>A Locations: - p.Gly163Glu (Ensembl:ENST00000274458) - c.488G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57236754 COSV99174503 rs1000102901 COSV57236754,COSV99174503 | 163 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000005.10:g.116134155G>A, NC_000005.10:g.116134155G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134155G>A, NC_000005.10:g.116134155G>C Locations: - p.G163R (NCI-TCGA:ENST00000274458) - p.Gly163Arg (Ensembl:ENST00000274458) - c.487G>A (Ensembl:ENST00000274458) - c.487G>C (NCI-TCGA:ENST00000274458) Source type: large scale study | |||||||
rs1431877121 | 165 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.116134163C>G, NC_000005.10:g.116134163C>A Codon: AAC/AAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134163C>G, NC_000005.10:g.116134163C>A Locations: - p.Asn165Lys (Ensembl:ENST00000274458) - c.495C>G (Ensembl:ENST00000274458) - c.495C>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1415024043 | 165 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.116134162A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134162A>G Locations: - p.Asn165Ser (Ensembl:ENST00000274458) - c.494A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs373245497 | 166 | N>K | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000005.10:g.116134166T>G, NC_000005.10:g.116134166T>A Codon: AAT/AAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134166T>G, NC_000005.10:g.116134166T>A Locations: - p.Asn166Lys (Ensembl:ENST00000274458) - c.498T>G (Ensembl:ENST00000274458) - c.498T>A (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs1751954879 | 168 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.116134170G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116134170G>A Locations: - p.Asp168Asn (Ensembl:ENST00000274458) - c.502G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1208063014 | 171 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.466) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.116291517A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291517A>T Locations: - p.Ser171Cys (Ensembl:ENST00000274458) - c.511A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1274482609 | 171 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.116291518G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291518G>T Locations: - p.Ser171Ile (Ensembl:ENST00000274458) - c.512G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV99174581 | 173 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.116291523G>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291523G>T Locations: - c.517G>T (NCI-TCGA:ENST00000274458) - p.E173* (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1580366960 | 174 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.116291527A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291527A>G Locations: - p.Lys174Arg (Ensembl:ENST00000274458) - c.521A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs764161992 | 175 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.116291529G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291529G>C Locations: - p.Val175Leu (Ensembl:ENST00000274458) - c.523G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751360498 | 176 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.116291532C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291532C>G Locations: - p.Leu176Val (Ensembl:ENST00000274458) - c.526C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs2112718742 | 177 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116291536T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291536T>G Locations: - p.Val177Gly (Ensembl:ENST00000274458) - c.530T>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1188598687 | 178 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116291538G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291538G>T Locations: - p.Glu178Ter (Ensembl:ENST00000274458) - c.532G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs751467892 | 178 | E>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116291539A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291539A>T Locations: - p.Glu178Val (Ensembl:ENST00000274458) - c.533A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1233674110 | 179 | F>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116291541T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291541T>A Locations: - p.Phe179Ile (Ensembl:ENST00000274458) - c.535T>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs757019599 | 180 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116291544A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291544A>G Locations: - p.Ser180Gly (Ensembl:ENST00000274458) - c.538A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs757019599 | 180 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116291544A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291544A>C Locations: - p.Ser180Arg (Ensembl:ENST00000274458) - c.538A>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs780977219 | 181 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116291549C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291549C>G Locations: - p.His181Gln (Ensembl:ENST00000274458) - c.543C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs930642030 | 182 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000005.10:g.116291550A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291550A>G Locations: - p.Lys182Glu (Ensembl:ENST00000274458) - c.544A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1038535223 | 182 | K>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116291551A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291551A>T Locations: - p.Lys182Met (Ensembl:ENST00000274458) - c.545A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751361418 | 182 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.116291552G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291552G>C Locations: - p.Lys182Asn (Ensembl:ENST00000274458) - c.546G>C (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57236797 rs1298570667 | 183 | E>K | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000005.10:g.116291553G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291553G>A Locations: - p.Glu183Lys (Ensembl:ENST00000274458) - c.547G>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1338861452 | 185 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000005.10:g.116291560T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291560T>A Locations: - p.Phe185Tyr (Ensembl:ENST00000274458) - c.554T>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV99174539 | 186 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.116291562G>T Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291562G>T Locations: - c.556G>T (NCI-TCGA:ENST00000274458) - p.D186Y (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1561411848 | 187 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.116291567C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291567C>G Locations: - p.Phe187Leu (Ensembl:ENST00000274458) - c.561C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1002303078 | 188 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116291570T>A, NC_000005.10:g.116291570T>G Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291570T>A, NC_000005.10:g.116291570T>G Locations: - p.Tyr188Ter (Ensembl:ENST00000274458) - c.564T>A (Ensembl:ENST00000274458) - c.564T>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs755180681 | 188 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116291569A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291569A>G Locations: - p.Tyr188Cys (Ensembl:ENST00000274458) - c.563A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs749541250 | 188 | Y>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116291568T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291568T>C Locations: - p.Tyr188His (Ensembl:ENST00000274458) - c.562T>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57234309 rs1751362500 | 190 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.03) - PolyPhen: benign (0.079) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000005.10:g.116291576G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291576G>T Locations: - p.K190N (NCI-TCGA:ENST00000274458) - p.Lys190Asn (Ensembl:ENST00000274458) - c.570G>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
TCGA novel | 190 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.116291575A>G Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116291575A>G Locations: - c.569A>G (NCI-TCGA:ENST00000274458) - p.K190R (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs148262275 | 192 | E>G | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116292455A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292455A>G Locations: - p.Glu192Gly (Ensembl:ENST00000274458) - c.575A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57238582 | 192 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000005.10:g.116292454G>A Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292454G>A Locations: - c.574G>A (NCI-TCGA:ENST00000274458) - p.E192K (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs148262275 | 192 | E>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116292455A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292455A>T Locations: - p.Glu192Val (Ensembl:ENST00000274458) - c.575A>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV99174536 rs1373057065 | 193 | T>A | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000005.10:g.116292457A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292457A>G Locations: - p.Thr193Ala (Ensembl:ENST00000274458) - c.577A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs752983046 | 193 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.116292458C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292458C>G Locations: - p.Thr193Ser (Ensembl:ENST00000274458) - c.578C>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs141415135 | 194 | I>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116292460A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292460A>C Locations: - p.Ile194Leu (Ensembl:ENST00000274458) - c.580A>C (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs141415135 | 194 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000005.10:g.116292460A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292460A>G Locations: - p.Ile194Val (Ensembl:ENST00000274458) - c.580A>G (Ensembl:ENST00000274458) Source type: large scale study | |||||||
rs867503044 | 195 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116292463C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292463C>T Locations: - p.Gln195Ter (Ensembl:ENST00000274458) - c.583C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1751392177 | 195 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116292464A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292464A>G Locations: - p.Gln195Arg (Ensembl:ENST00000274458) - c.584A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs777760753 | 197 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.116292469C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292469C>T Locations: - p.Gln197Ter (Ensembl:ENST00000274458) - c.589C>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs751623825 | 197 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116292470A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292470A>T Locations: - p.Gln197Leu (Ensembl:ENST00000274458) - c.590A>T (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs751623825 | 197 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.116292470A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292470A>G Locations: - p.Gln197Arg (Ensembl:ENST00000274458) - c.590A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV99174512 | 198 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.116292473T>C Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292473T>C Locations: - c.593T>C (NCI-TCGA:ENST00000274458) - p.L198P (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1156578803 | 199 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.812) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.116292477T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292477T>A Locations: - p.Asp199Glu (Ensembl:ENST00000274458) - c.597T>A (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs1421091928 | 202 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116292484A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292484A>G Locations: - p.Thr202Ala (Ensembl:ENST00000274458) - c.604A>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs757242008 | 202 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.116292485C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292485C>G Locations: - p.Thr202Arg (Ensembl:ENST00000274458) - c.605C>G (Ensembl:ENST00000274458) Source type: large scale study Cross-references: | |||||||
COSV57240509 COSV57240509,COSV99174496 COSV99174496 | 203 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop retained Somatic: No Accession: NC_000005.10:g.116292488G>A Consequence type: stop retained Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292488G>A Locations: - c.608G>A (NCI-TCGA:ENST00000274458) - p.*203= (NCI-TCGA:ENST00000274458) Source type: large scale study | |||||||
rs781732166 | 203 | *>C | ExAC TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000005.10:g.116292489A>T Codon: TGA/TGT Consequence type: stop lost Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292489A>T Locations: - p.Ter203CysextTer19 (Ensembl:ENST00000274458) - c.609A>T (Ensembl:ENST00000274458) Source type: large scale study | |||||||
COSV57240509 COSV57240509,COSV99174496 COSV99174496 | 203 | *>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop lost Somatic: No Accession: NC_000005.10:g.116292488G>T Consequence type: stop lost Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292488G>T Locations: - c.608G>T (NCI-TCGA:ENST00000274458) - p.*203Lext*19 (NCI-TCGA:ENST00000274458) Source type: large scale study | |||||||
COSV57235277 | 203 | *>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop lost Somatic: Yes Accession: NC_000005.10:g.116292487T>C Consequence type: stop lost Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292487T>C Locations: - c.607T>C (NCI-TCGA:ENST00000274458) - p.*203Rext*19 (NCI-TCGA:ENST00000274458) Source type: large scale study Cross-references: | |||||||
rs781732166 | 203 | *>W | ExAC TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000005.10:g.116292489A>G Codon: TGA/TGG Consequence type: stop lost Cytogenetic band: 5q23.1 Genomic location: NC_000005.10:g.116292489A>G Locations: - p.Ter203TrpextTer19 (Ensembl:ENST00000274458) - c.609A>G (Ensembl:ENST00000274458) Source type: large scale study |