A0A075B6W5 · TVA23_HUMAN
- ProteinT cell receptor alpha variable 23/delta variable 6
- GeneTRAV23DV6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids121 (go to sequence)
- Protein existenceInferred from homology
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1892259626 | 2 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000014.9:g.22086456A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086456A>G Locations: - p.Asp2Gly (Ensembl:ENST00000390451) - c.5A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1442837037 | 2 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000014.9:g.22086455G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086455G>A Locations: - p.Asp2Asn (Ensembl:ENST00000390451) - c.4G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs762946710 | 4 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000014.9:g.22086462T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086462T>A Locations: - p.Ile4Asn (Ensembl:ENST00000390451) - c.11T>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892259694 | 4 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000014.9:g.22086461A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086461A>G Locations: - p.Ile4Val (Ensembl:ENST00000390451) - c.10A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892259814 | 6 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000014.9:g.22086467G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086467G>A Locations: - p.Gly6Arg (Ensembl:ENST00000390451) - c.16G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892259881 | 7 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000014.9:g.22086470G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086470G>A Locations: - p.Ala7Thr (Ensembl:ENST00000390451) - c.19G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892259963 | 7 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000014.9:g.22086471C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086471C>T Locations: - p.Ala7Val (Ensembl:ENST00000390451) - c.20C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1240873356 | 8 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.561) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000014.9:g.22086473T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086473T>G Locations: - p.Ser8Ala (Ensembl:ENST00000390451) - c.22T>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1337420024 | 8 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (1) - PolyPhen: benign (0.042) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000014.9:g.22086474C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086474C>T Locations: - p.S8L (NCI-TCGA:ENST00000390451) - p.Ser8Leu (Ensembl:ENST00000390451) - c.23C>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1892260271 | 11 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086483T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086483T>C Locations: - p.Val11Ala (Ensembl:ENST00000390451) - c.32T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892260201 | 11 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086482G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086482G>A Locations: - p.Val11Ile (Ensembl:ENST00000390451) - c.31G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 15 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.22086494C>G Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086494C>G Locations: - c.43C>G (NCI-TCGA:ENST00000390451) - p.Q15E (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs766446183 | 15 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000014.9:g.22086496A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086496A>T Locations: - p.Gln15His (Ensembl:ENST00000390451) - c.45A>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1410444800 | 15 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.24) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.22086495A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086495A>G Locations: - p.Gln15Arg (Ensembl:ENST00000390451) - c.44A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892260673 | 17 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000014.9:g.22086500T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086500T>C Locations: - p.Cys17Arg (Ensembl:ENST00000390451) - c.49T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 18 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000014.9:g.22086650G>T Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086650G>T Locations: - c.53G>T (NCI-TCGA:ENST00000390451) - p.W18L (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1441240864 | 18 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000014.9:g.22086503T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086503T>C Locations: - p.Trp18Arg (Ensembl:ENST00000390451) - c.52T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs555003248 | 18 | W>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086650G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086650G>C Locations: - p.Trp18Ser (Ensembl:ENST00000390451) - c.53G>C (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1892265706 | 19 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.22086653T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086653T>C Locations: - p.Val19Ala (Ensembl:ENST00000390451) - c.56T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1471501137 | 19 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.22086652G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086652G>T Locations: - p.Val19Leu (Ensembl:ENST00000390451) - c.55G>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1471501137 | 19 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.22086652G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086652G>A Locations: - p.Val19Met (Ensembl:ENST00000390451) - c.55G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1046371696 | 20 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086655A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086655A>T Locations: - p.Ser20Cys (Ensembl:ENST00000390451) - c.58A>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs367893420 | 20 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086657T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086657T>G Locations: - p.Ser20Arg (Ensembl:ENST00000390451) - c.60T>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1327062197 | 20 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.22086656G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086656G>C Locations: - p.Ser20Thr (Ensembl:ENST00000390451) - c.59G>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs759070016 | 21 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.22086658G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086658G>T Locations: - p.Gly21Cys (Ensembl:ENST00000390451) - c.61G>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs574752655 | 21 | G>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086659G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086659G>A Locations: - p.Gly21Asp (Ensembl:ENST00000390451) - c.62G>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs759070016 | 21 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000014.9:g.22086658G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086658G>A Locations: - p.Gly21Ser (Ensembl:ENST00000390451) - c.61G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1275403384 | 22 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086662A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086662A>C Locations: - p.Gln22Pro (Ensembl:ENST00000390451) - c.65A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs371715126 | 23 | Q>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086664C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086664C>T Locations: - p.Gln23Ter (Ensembl:ENST00000390451) - c.67C>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
TCGA novel | 23 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086666G>C Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086666G>C Locations: - c.69G>C (NCI-TCGA:ENST00000390451) - p.Q23H (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs371715126 | 23 | Q>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.22086664C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086664C>A Locations: - p.Gln23Lys (Ensembl:ENST00000390451) - c.67C>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1892266469 | 24 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.22086667A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086667A>G Locations: - p.Lys24Glu (Ensembl:ENST00000390451) - c.70A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs760203578 | 25 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000014.9:g.22086670G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086670G>A Locations: - p.Glu25Lys (Ensembl:ENST00000390451) - c.73G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892266687 | 27 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000014.9:g.22086676A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086676A>G Locations: - p.Ser27Gly (Ensembl:ENST00000390451) - c.79A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1252023527 | 29 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086684G>T, NC_000014.9:g.22086684G>C Codon: CAG/CAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086684G>T, NC_000014.9:g.22086684G>C Locations: - p.Gln29His (Ensembl:ENST00000390451) - c.87G>T (Ensembl:ENST00000390451) - c.87G>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1428521250 | 30 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.05) - PolyPhen: benign (0.164) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000004266 (gnomAD) Accession: NC_000014.9:g.22086685C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086685C>A Locations: - p.Q30K (NCI-TCGA:ENST00000390451) - p.Gln30Lys (Ensembl:ENST00000390451) - c.88C>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs375848346 | 31 | Q>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086689A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086689A>T Locations: - p.Gln31Leu (Ensembl:ENST00000390451) - c.92A>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
TCGA novel | 31 | Q>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000014.9:g.22086688del Consequence type: frameshift Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086688del Locations: - c.91del (NCI-TCGA:ENST00000390451) - p.Q31Rfs*2 (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs757686191 | 32 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.501) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086691G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086691G>A Locations: - p.Val32Met (Ensembl:ENST00000390451) - c.94G>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs540666482 | 34 | Q>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086697C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086697C>G Locations: - p.Gln34Glu (Ensembl:ENST00000390451) - c.100C>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs540666482 | 34 | Q>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086697C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086697C>A Locations: - p.Gln34Lys (Ensembl:ENST00000390451) - c.100C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1447914602 | 34 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086698A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086698A>G Locations: - p.Gln34Arg (Ensembl:ENST00000390451) - c.101A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 35 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000014.9:g.22086701G>T Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086701G>T Locations: - c.104G>T (NCI-TCGA:ENST00000390451) - p.S35I (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1247695690 | 36 | P>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000014.9:g.22086703C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086703C>T Locations: - p.Pro36Ser (Ensembl:ENST00000390451) - c.106C>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1247695690 | 36 | P>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086703C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086703C>A Locations: - p.Pro36Thr (Ensembl:ENST00000390451) - c.106C>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1329042632 | 37 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000014.9:g.22086708A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086708A>C Locations: - p.Gln37His (Ensembl:ENST00000390451) - c.111A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 38 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000014.9:g.22086710C>T Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086710C>T Locations: - c.113C>T (NCI-TCGA:ENST00000390451) - p.S38F (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1566458202 | 38 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000014.9:g.22086709T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086709T>C Locations: - p.Ser38Pro (Ensembl:ENST00000390451) - c.112T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1325396989 | 39 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086713T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086713T>C Locations: - p.Leu39Ser (Ensembl:ENST00000390451) - c.116T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892268276 | 40 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.22086715A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086715A>G Locations: - p.Ile40Val (Ensembl:ENST00000390451) - c.118A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs369109383 | 41 | V>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.22086719T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086719T>C Locations: - p.Val41Ala (Ensembl:ENST00000390451) - c.122T>C (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs369109383 | 41 | V>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086719T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086719T>G Locations: - p.Val41Gly (Ensembl:ENST00000390451) - c.122T>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs747138129 | 42 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086721C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086721C>T Locations: - p.Gln42Ter (Ensembl:ENST00000390451) - c.124C>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
TCGA novel | 42 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.22086723G>C Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086723G>C Locations: - c.126G>C (NCI-TCGA:ENST00000390451) - p.Q42H (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs768706537 | 42 | Q>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000014.9:g.22086722A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086722A>C Locations: - p.Gln42Pro (Ensembl:ENST00000390451) - c.125A>C (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs768706537 | 42 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000014.9:g.22086722A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086722A>G Locations: - p.Gln42Arg (Ensembl:ENST00000390451) - c.125A>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs781573179 | 43 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086724A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086724A>G Locations: - p.Lys43Glu (Ensembl:ENST00000390451) - c.127A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1295678265 | 45 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000014.9:g.22086730G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086730G>A Locations: - p.Gly45Arg (Ensembl:ENST00000390451) - c.133G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs749086233 | 46 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000014.9:g.22086733A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086733A>T Locations: - p.Ile46Phe (Ensembl:ENST00000390451) - c.136A>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs2272549 | 47 | S>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086736T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086736T>C Locations: - p.Ser47Pro (Ensembl:ENST00000390451) - c.139T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1566458233 | 48 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086739A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086739A>G Locations: - p.Ile48Val (Ensembl:ENST00000390451) - c.142A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1011069778 | 49 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086742A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086742A>C Locations: - p.Ile49Leu (Ensembl:ENST00000390451) - c.145A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs377287291 | 51 | C>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086748T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086748T>G Locations: - p.Cys51Gly (Ensembl:ENST00000390451) - c.151T>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs377287291 | 51 | C>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086748T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086748T>A Locations: - p.Cys51Ser (Ensembl:ENST00000390451) - c.151T>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs759428936 | 52 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.22086752C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086752C>T Locations: - p.Ala52Val (Ensembl:ENST00000390451) - c.155C>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs772075663 | 53 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086756T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086756T>A Locations: - p.Tyr53Ter (Ensembl:ENST00000390451) - c.159T>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
TCGA novel | 54 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000014.9:g.22086759G>C Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086759G>C Locations: - c.162G>C (NCI-TCGA:ENST00000390451) - p.E54D (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1270454228 | 54 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000014.9:g.22086757G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086757G>A Locations: - p.Glu54Lys (Ensembl:ENST00000390451) - c.160G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs2139307864 | 56 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086764C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086764C>G Locations: - p.Thr56Ser (Ensembl:ENST00000390451) - c.167C>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1445944150 | 57 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000014.9:g.22086766G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086766G>A Locations: - p.Ala57Thr (Ensembl:ENST00000390451) - c.169G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs370013945 | 57 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000014.9:g.22086767C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086767C>T Locations: - p.Ala57Val (Ensembl:ENST00000390451) - c.170C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892269763 | 58 | F>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086767_22086768insTTAGAGA Codon: GCG/GCTTAGAGAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086767_22086768insTTAGAGA Locations: - p.Phe58Ter (Ensembl:ENST00000390451) - c.170_171insTTAGAGA (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892269916 | 58 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000014.9:g.22086769T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086769T>A Locations: - p.Phe58Ile (Ensembl:ENST00000390451) - c.172T>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892269988 | 58 | F>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.22086770T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086770T>A Locations: - p.Phe58Tyr (Ensembl:ENST00000390451) - c.173T>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892270255 | 59 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000014.9:g.22086774C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086774C>A Locations: - p.Asp59Glu (Ensembl:ENST00000390451) - c.177C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 59 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086773A>G Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086773A>G Locations: - c.176A>G (NCI-TCGA:ENST00000390451) - p.D59G (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs763668839 | 59 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086772G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086772G>C Locations: - p.Asp59His (Ensembl:ENST00000390451) - c.175G>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs376766349 | 60 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086776A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086776A>G Locations: - p.Tyr60Cys (Ensembl:ENST00000390451) - c.179A>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1366680426 | 62 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000014.9:g.22086782C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086782C>T Locations: - p.Pro62Leu (Ensembl:ENST00000390451) - c.185C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892270409 | 62 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000014.9:g.22086781C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086781C>T Locations: - p.Pro62Ser (Ensembl:ENST00000390451) - c.184C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1157097303 | 63 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086785G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086785G>A Locations: - p.Trp63Ter (Ensembl:ENST00000390451) - c.188G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs370575473 | 63 | W>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086784T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086784T>A Locations: - p.Trp63Arg (Ensembl:ENST00000390451) - c.187T>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs765632652 | 65 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086790C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086790C>T Locations: - p.Gln65Ter (Ensembl:ENST00000390451) - c.193C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs17114148 | 65 | Q>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086792A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086792A>C Locations: - p.Gln65His (Ensembl:ENST00000390451) - c.195A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs2139307931 | 65 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000014.9:g.22086791A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086791A>G Locations: - p.Gln65Arg (Ensembl:ENST00000390451) - c.194A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1315272810 | 66 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086793C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086793C>T Locations: - p.Gln66Ter (Ensembl:ENST00000390451) - c.196C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs36002301 | 66 | Q>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086795A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086795A>T Locations: - p.Gln66His (Ensembl:ENST00000390451) - c.198A>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1315272810 | 66 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.396) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000014.9:g.22086793C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086793C>A Locations: - p.Gln66Lys (Ensembl:ENST00000390451) - c.196C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892271392 | 68 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000014.9:g.22086800C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086800C>T Locations: - p.Pro68Leu (Ensembl:ENST00000390451) - c.203C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1016799817 | 68 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.22086799C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086799C>T Locations: - p.Pro68Ser (Ensembl:ENST00000390451) - c.202C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 69 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086802G>T Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086802G>T Locations: - c.205G>T (NCI-TCGA:ENST00000390451) - p.G69W (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 70 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000014.9:g.22086805A>G Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086805A>G Locations: - c.208A>G (NCI-TCGA:ENST00000390451) - p.K70E (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs751531598 | 71 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086808G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086808G>T Locations: - p.Gly71Cys (Ensembl:ENST00000390451) - c.211G>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1258622014 | 71 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.22086809G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086809G>A Locations: - p.Gly71Asp (Ensembl:ENST00000390451) - c.212G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs751531598 | 71 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.22086808G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086808G>C Locations: - p.Gly71Arg (Ensembl:ENST00000390451) - c.211G>C (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1259078192 | 72 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000014.9:g.22086812C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086812C>T Locations: - p.Pro72Leu (Ensembl:ENST00000390451) - c.215C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1259078192 | 72 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086812C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086812C>G Locations: - p.Pro72Arg (Ensembl:ENST00000390451) - c.215C>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs755179905 | 72 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086811C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086811C>T Locations: - p.Pro72Ser (Ensembl:ENST00000390451) - c.214C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892271881 | 73 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000014.9:g.22086815C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086815C>A Locations: - p.Ala73Glu (Ensembl:ENST00000390451) - c.218C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892272119 | 75 | L>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086821T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086821T>C Locations: - p.Leu75Ser (Ensembl:ENST00000390451) - c.224T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs757090061 | 76 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000014.9:g.22086825A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086825A>G Locations: - p.Ile76Met (Ensembl:ENST00000390451) - c.228A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892272236 | 77 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000014.9:g.22086826G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086826G>T Locations: - p.Ala77Ser (Ensembl:ENST00000390451) - c.229G>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs778813519 | 77 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000014.9:g.22086827C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086827C>T Locations: - p.Ala77Val (Ensembl:ENST00000390451) - c.230C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs370245031 | 78 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000014.9:g.22086829A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086829A>G Locations: - p.Ile78Val (Ensembl:ENST00000390451) - c.232A>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs370713720 | 79 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.22086832C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086832C>T Locations: - p.Arg79Cys (Ensembl:ENST00000390451) - c.235C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs183101098 | 79 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000014.9:g.22086833G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086833G>A Locations: - p.Arg79His (Ensembl:ENST00000390451) - c.236G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs370713720 | 79 | R>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000014.9:g.22086832C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086832C>A Locations: - p.Arg79Ser (Ensembl:ENST00000390451) - c.235C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1175584022 | 80 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.22086836C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086836C>T Locations: - p.Pro80Leu (Ensembl:ENST00000390451) - c.239C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1175584022 | 80 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086836C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086836C>A Locations: - p.Pro80Gln (Ensembl:ENST00000390451) - c.239C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs777491811 | 81 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000014.9:g.22086840T>G, NC_000014.9:g.22086840T>A Codon: GAT/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086840T>G, NC_000014.9:g.22086840T>A Locations: - p.Asp81Glu (Ensembl:ENST00000390451) - c.243T>G (Ensembl:ENST00000390451) - c.243T>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs761413516 | 81 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000014.9:g.22086839A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086839A>G Locations: - p.Asp81Gly (Ensembl:ENST00000390451) - c.242A>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs776233264 | 81 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000014.9:g.22086838G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086838G>C Locations: - p.Asp81His (Ensembl:ENST00000390451) - c.241G>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs761413516 | 81 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000014.9:g.22086839A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086839A>T Locations: - p.Asp81Val (Ensembl:ENST00000390451) - c.242A>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1375936916 | 82 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000014.9:g.22086841G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086841G>A Locations: - p.Val82Met (Ensembl:ENST00000390451) - c.244G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs909772078 | 83 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000014.9:g.22086844A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086844A>G Locations: - p.Ser83Gly (Ensembl:ENST00000390451) - c.247A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs764889440 | 83 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000014.9:g.22086846T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086846T>A Locations: - p.Ser83Arg (Ensembl:ENST00000390451) - c.249T>A (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1375679990 | 84 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086847G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086847G>A Locations: - p.Glu84Lys (Ensembl:ENST00000390451) - c.250G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 85 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000014.9:g.22086852G>C Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086852G>C Locations: - c.255G>C (NCI-TCGA:ENST00000390451) - p.K85N (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs773388324 | 86 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000014.9:g.22086853A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086853A>C Locations: - p.Lys86Gln (Ensembl:ENST00000390451) - c.256A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1237619767 | 86 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086854A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086854A>C Locations: - p.Lys86Thr (Ensembl:ENST00000390451) - c.257A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1474871839 | 87 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086858A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086858A>C Locations: - p.Glu87Asp (Ensembl:ENST00000390451) - c.261A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892273849 | 88 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.22086860G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086860G>A Locations: - p.Gly88Glu (Ensembl:ENST00000390451) - c.263G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs141063011 | 88 | G>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.22086859G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086859G>A Locations: - p.Gly88Arg (Ensembl:ENST00000390451) - c.262G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs2139308147 | 90 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000014.9:g.22086865T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086865T>C Locations: - p.Phe90Leu (Ensembl:ENST00000390451) - c.268T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1305557490 | 92 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086871A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086871A>G Locations: - p.Ile92Val (Ensembl:ENST00000390451) - c.274A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892274014 | 93 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000014.9:g.22086874T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086874T>A Locations: - p.Ser93Thr (Ensembl:ENST00000390451) - c.277T>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 94 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086878T>G Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086878T>G Locations: - c.281T>G (NCI-TCGA:ENST00000390451) - p.F94C (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1209276179 | 95 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.22086880A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086880A>G Locations: - p.Asn95Asp (Ensembl:ENST00000390451) - c.283A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs375028522 | 95 | N>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.22086881A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086881A>G Locations: - p.Asn95Ser (Ensembl:ENST00000390451) - c.284A>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1481453492 | 97 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086887G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086887G>A Locations: - p.Ser97Asn (Ensembl:ENST00000390451) - c.290G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1354330043 | 98 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086889G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086889G>C Locations: - p.Ala98Pro (Ensembl:ENST00000390451) - c.292G>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1237399281 | 98 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.12) - PolyPhen: benign (0.013) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.000004854 (gnomAD) Accession: NC_000014.9:g.22086890C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086890C>T Locations: - p.A98V (NCI-TCGA:ENST00000390451) - p.Ala98Val (Ensembl:ENST00000390451) - c.293C>T (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1454867100 | 100 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086895C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086895C>T Locations: - p.Gln100Ter (Ensembl:ENST00000390451) - c.298C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1393318963 | 100 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086897G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086897G>C Locations: - p.Gln100His (Ensembl:ENST00000390451) - c.300G>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1454867100 | 100 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000014.9:g.22086895C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086895C>A Locations: - p.Gln100Lys (Ensembl:ENST00000390451) - c.298C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs755090016 | 100 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.22086896A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086896A>T Locations: - p.Gln100Leu (Ensembl:ENST00000390451) - c.299A>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1453907446 | 101 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086898T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086898T>C Locations: - p.Phe101Leu (Ensembl:ENST00000390451) - c.301T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs187071801 | 101 | F>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086899T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086899T>C Locations: - p.Phe101Ser (Ensembl:ENST00000390451) - c.302T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs372076335 | 103 | S>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.22086905C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086905C>A Locations: - p.Ser103Ter (Ensembl:ENST00000390451) - c.308C>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs372076335 | 103 | S>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086905C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086905C>T Locations: - p.Ser103Leu (Ensembl:ENST00000390451) - c.308C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892275029 | 103 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086904T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086904T>C Locations: - p.Ser103Pro (Ensembl:ENST00000390451) - c.307T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs933841036 | 104 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086908A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086908A>G Locations: - p.His104Arg (Ensembl:ENST00000390451) - c.311A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs746625809 | 105 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086910A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086910A>C Locations: - p.Ile105Leu (Ensembl:ENST00000390451) - c.313A>C (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1368096846 | 105 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086912C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086912C>G Locations: - p.I105M (NCI-TCGA:ENST00000390451) - p.Ile105Met (Ensembl:ENST00000390451) - c.315C>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs746625809 | 105 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.22086910A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086910A>G Locations: - p.Ile105Val (Ensembl:ENST00000390451) - c.313A>G (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs538949800 | 106 | M>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000014.9:g.22086915G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086915G>C Locations: - p.Met106Ile (Ensembl:ENST00000390451) - c.318G>C (Ensembl:ENST00000390451) Source type: large scale study | |||||||
rs1482648656 | 106 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.22086914T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086914T>C Locations: - p.Met106Thr (Ensembl:ENST00000390451) - c.317T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs915482029 | 106 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000014.9:g.22086913A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086913A>G Locations: - p.Met106Val (Ensembl:ENST00000390451) - c.316A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1296135080 | 107 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000014.9:g.22086916G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086916G>A Locations: - p.Asp107Asn (Ensembl:ENST00000390451) - c.319G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1296135080 | 107 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.288) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086916G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086916G>T Locations: - p.Asp107Tyr (Ensembl:ENST00000390451) - c.319G>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1309169584 | 108 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086920C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086920C>T Locations: - p.Ser108Phe (Ensembl:ENST00000390451) - c.323C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs746988362 | 109 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086923A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086923A>C Locations: - p.Gln109Pro (Ensembl:ENST00000390451) - c.326A>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs946890598 | 110 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.22086925C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086925C>T Locations: - p.Pro110Ser (Ensembl:ENST00000390451) - c.328C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1257154879 | 111 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000014.9:g.22086929G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086929G>C Locations: - p.Gly111Ala (Ensembl:ENST00000390451) - c.332G>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
TCGA novel | 111 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.49) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.22086928G>C Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086928G>C Locations: - c.331G>C (NCI-TCGA:ENST00000390451) - p.G111R (NCI-TCGA:ENST00000390451) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs374086659 | 112 | D>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086931G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086931G>A Locations: - p.Asp112Asn (Ensembl:ENST00000390451) - c.334G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs374086659 | 112 | D>Y | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086931G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086931G>T Locations: - p.Asp112Tyr (Ensembl:ENST00000390451) - c.334G>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1336243119 | 113 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.701) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086935C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086935C>T Locations: - p.Ser113Leu (Ensembl:ENST00000390451) - c.338C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs776068456 | 114 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.22086938C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086938C>G Locations: - p.Ala114Gly (Ensembl:ENST00000390451) - c.341C>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs2139308312 | 114 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086937G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086937G>A Locations: - p.Ala114Thr (Ensembl:ENST00000390451) - c.340G>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs776068456 | 114 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086938C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086938C>T Locations: - p.Ala114Val (Ensembl:ENST00000390451) - c.341C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1006532137 | 115 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.22086940A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086940A>T Locations: - p.Thr115Ser (Ensembl:ENST00000390451) - c.343A>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1892277728 | 116 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086944A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086944A>G Locations: - p.Tyr116Cys (Ensembl:ENST00000390451) - c.347A>G (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1594273454 | 116 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.22086943T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086943T>C Locations: - p.Tyr116His (Ensembl:ENST00000390451) - c.346T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1421826977 | 117 | F>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.22086946T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086946T>A Locations: - p.Phe117Ile (Ensembl:ENST00000390451) - c.349T>A (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1421826977 | 117 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000014.9:g.22086946T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086946T>C Locations: - p.Phe117Leu (Ensembl:ENST00000390451) - c.349T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1427229573 | 117 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.22086947T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086947T>C Locations: - p.Phe117Ser (Ensembl:ENST00000390451) - c.350T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs1170658040 | 118 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.22086949T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086949T>C Locations: - p.Cys118Arg (Ensembl:ENST00000390451) - c.352T>C (Ensembl:ENST00000390451) Source type: large scale study Cross-references: | |||||||
rs2139308366 | 119 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.22086953C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.22086953C>T Locations: - p.Ala119Val (Ensembl:ENST00000390451) - c.356C>T (Ensembl:ENST00000390451) Source type: large scale study Cross-references: |