P59861 · D131A_HUMAN
- ProteinBeta-defensin 131A
- GeneDEFB131A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs757935838 | 2 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9444539G>T, NC_000004.12:g.9444539G>C Codon: AGG/AGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444539G>T, NC_000004.12:g.9444539G>C Locations: - p.Arg2Ser (Ensembl:ENST00000334879) - c.6G>T (Ensembl:ENST00000334879) - c.6G>C (Ensembl:ENST00000334879) Source type: large scale study | |||||||
COSV58416845 | 3 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: tolerated (0.26) Somatic: Yes Accession: NC_000004.12:g.9444541T>C Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444541T>C Locations: - c.8T>C (NCI-TCGA:ENST00000334879) - p.V3A (NCI-TCGA:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs202194326 | 3 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9444540G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444540G>T Locations: - p.Val3Phe (Ensembl:ENST00000334879) - c.7G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1191451748 | 3 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9444541T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444541T>G Locations: - p.Val3Gly (Ensembl:ENST00000334879) - c.8T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1430290329 | 4 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.9444545G>C, NC_000004.12:g.9444545G>T Codon: TTG/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444545G>C, NC_000004.12:g.9444545G>T Locations: - p.Leu4Phe (Ensembl:ENST00000334879) - c.12G>C (Ensembl:ENST00000334879) - c.12G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
COSV100607841 | 4 | L>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000004.12:g.9444544T>C Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444544T>C Locations: - c.11T>C (NCI-TCGA:ENST00000334879) - p.L4S (NCI-TCGA:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs746901547 | 5 | F>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.9444546T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444546T>A Locations: - p.Phe5Ile (Ensembl:ENST00000334879) - c.13T>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs746901547 | 5 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.9444546T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444546T>C Locations: - p.Phe5Leu (Ensembl:ENST00000334879) - c.13T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717432349 | 7 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9444553T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444553T>G Locations: - p.Val7Gly (Ensembl:ENST00000334879) - c.20T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717432475 | 9 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.9444559G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444559G>A Locations: - p.Gly9Glu (Ensembl:ENST00000334879) - c.26G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1560127659 | 9 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9444558G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444558G>A Locations: - p.Gly9Arg (Ensembl:ENST00000334879) - c.25G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs775882142 | 10 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.9444562T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444562T>C Locations: - p.Val10Ala (Ensembl:ENST00000334879) - c.29T>C (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs775882142 | 10 | V>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9444562T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444562T>A Locations: - p.Val10Asp (Ensembl:ENST00000334879) - c.29T>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs770070831 | 10 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9444561G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444561G>T Locations: - p.Val10Phe (Ensembl:ENST00000334879) - c.28G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs770070831 | 10 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000004.12:g.9444561G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444561G>A Locations: - p.Val10Ile (Ensembl:ENST00000334879) - c.28G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
COSV58416226 | 11 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000004.12:g.9444564C>T Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444564C>T Locations: - c.31C>T (NCI-TCGA:ENST00000334879) - p.L11F (NCI-TCGA:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1360326630 | 11 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9444565T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444565T>C Locations: - p.Leu11Pro (Ensembl:ENST00000334879) - c.32T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1360326630 | 11 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9444565T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444565T>G Locations: - p.Leu11Arg (Ensembl:ENST00000334879) - c.32T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs370526497 | 12 | S>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9444567T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444567T>C Locations: - p.Ser12Pro (Ensembl:ENST00000334879) - c.34T>C (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1280208428 | 13 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.9444572G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444572G>C Locations: - p.Leu13Phe (Ensembl:ENST00000334879) - c.39G>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1310745673 | 14 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.9444575G>A, NC_000004.12:g.9444575G>C Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444575G>A, NC_000004.12:g.9444575G>C Locations: - p.Met14Ile (Ensembl:ENST00000334879) - c.42G>A (Ensembl:ENST00000334879) - c.42G>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1227807022 | 14 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9444574T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444574T>C Locations: - p.Met14Thr (Ensembl:ENST00000334879) - c.41T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs187043876 | 14 | M>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9444573A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444573A>G Locations: - p.Met14Val (Ensembl:ENST00000334879) - c.40A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs762222240 | 15 | F>C | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.9444577T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444577T>G Locations: - p.Phe15Cys (Ensembl:ENST00000334879) - c.44T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs762222240 | 15 | F>S | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000004.12:g.9444577T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444577T>C Locations: - p.Phe15Ser (Ensembl:ENST00000334879) - c.44T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1436368173 | 16 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000004.12:g.9444579A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444579A>G Locations: - p.Thr16Ala (Ensembl:ENST00000334879) - c.46A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs768127622 | 16 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.9444580C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444580C>T Locations: - p.Thr16Ile (Ensembl:ENST00000334879) - c.47C>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs536733055 | 17 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.9444583T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444583T>C Locations: - p.Val17Ala (Ensembl:ENST00000334879) - c.50T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs539139420 | 17 | V>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.9444582G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444582G>T Locations: - p.Val17Phe (Ensembl:ENST00000334879) - c.49G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs539139420 | 17 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000004.12:g.9444582G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444582G>A Locations: - p.Val17Ile (Ensembl:ENST00000334879) - c.49G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs758097415 | 18 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.9444585C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444585C>G Locations: - p.Pro18Ala (Ensembl:ENST00000334879) - c.52C>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs777237570 | 18 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.9444586C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444586C>T Locations: - p.Pro18Leu (Ensembl:ENST00000334879) - c.53C>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs758097415 | 18 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.9444585C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444585C>T Locations: - p.Pro18Ser (Ensembl:ENST00000334879) - c.52C>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs368396527 | 19 | P>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.9444589C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444589C>T Locations: - p.Pro19Leu (Ensembl:ENST00000334879) - c.56C>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs749151749 | 20 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450360C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450360C>A Locations: - p.Ala20Asp (Ensembl:ENST00000334879) - c.59C>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs757133733 | 20 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.9444591G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444591G>T Locations: - p.Ala20Ser (Ensembl:ENST00000334879) - c.58G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs757133733 | 20 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9444591G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9444591G>A Locations: - p.Ala20Thr (Ensembl:ENST00000334879) - c.58G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs749151749 | 20 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450360C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450360C>T Locations: - p.Ala20Val (Ensembl:ENST00000334879) - c.59C>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs779200496 | 21 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000004.12:g.9450362A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450362A>G Locations: - p.Arg21Gly (Ensembl:ENST00000334879) - c.61A>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1456151738 | 21 | R>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450363G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450363G>T Locations: - p.Arg21Ile (Ensembl:ENST00000334879) - c.62G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1456151738 | 21 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.9450363G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450363G>C Locations: - p.Arg21Thr (Ensembl:ENST00000334879) - c.62G>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs748138152 | 22 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.9450366G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450366G>T Locations: - p.Ser22Ile (Ensembl:ENST00000334879) - c.65G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs748138152 | 22 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.9450366G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450366G>A Locations: - p.Ser22Asn (Ensembl:ENST00000334879) - c.65G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs200596265 | 23 | F>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9450369T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450369T>G Locations: - p.Phe23Cys (Ensembl:ENST00000334879) - c.68T>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs182857763 | 25 | S>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000004.12:g.9450374T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450374T>G Locations: - p.Ser25Ala (Ensembl:ENST00000334879) - c.73T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs182857763 | 25 | S>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000004.12:g.9450374T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450374T>C Locations: - p.Ser25Pro (Ensembl:ENST00000334879) - c.73T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
COSV58416746 | 25 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000004.12:g.9450375C>A Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450375C>A Locations: - c.74C>A (NCI-TCGA:ENST00000334879) - p.S25Y (NCI-TCGA:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717623931 | 26 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000004.12:g.9450377A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450377A>G Locations: - p.Asn26Asp (Ensembl:ENST00000334879) - c.76A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs370926721 | 26 | N>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000004.12:g.9450379T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450379T>A Locations: - p.Asn26Lys (Ensembl:ENST00000334879) - c.78T>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
COSV58416734 | 26 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.82) Somatic: Yes Accession: NC_000004.12:g.9450378A>G Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450378A>G Locations: - c.77A>G (NCI-TCGA:ENST00000334879) - p.N26S (NCI-TCGA:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs201786630 | 27 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.9450382T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450382T>G Locations: - p.Asp27Glu (Ensembl:ENST00000334879) - c.81T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1398250898 | 27 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000004.12:g.9450381A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450381A>G Locations: - p.Asp27Gly (Ensembl:ENST00000334879) - c.80A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1170029746 | 27 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000004.12:g.9450380G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450380G>A Locations: - p.Asp27Asn (Ensembl:ENST00000334879) - c.79G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1324470075 | 28 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000004.12:g.9450383G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450383G>A Locations: - p.Glu28Lys (Ensembl:ENST00000334879) - c.82G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
COSV58416077 rs771498069 | 29 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000008565 (gnomAD) Accession: NC_000004.12:g.9450386T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450386T>C Locations: - p.C29R (NCI-TCGA:ENST00000334879) - p.Cys29Arg (Ensembl:ENST00000334879) - c.85T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs374605727 | 32 | E>K | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000004.12:g.9450395G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450395G>A Locations: - p.Glu32Lys (Ensembl:ENST00000334879) - c.94G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1717624770 | 34 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.9450402A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450402A>T Locations: - p.Tyr34Phe (Ensembl:ENST00000334879) - c.101A>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs761417378 | 35 | H>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.9450405A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450405A>T Locations: - p.His35Leu (Ensembl:ENST00000334879) - c.104A>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs751243150 | 35 | H>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000004.12:g.9450404C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450404C>A Locations: - p.His35Asn (Ensembl:ENST00000334879) - c.103C>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1211201110 | 35 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000004.12:g.9450406T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450406T>A Locations: - p.His35Gln (Ensembl:ENST00000334879) - c.105T>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs761417378 | 35 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000004.12:g.9450405A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450405A>G Locations: - p.His35Arg (Ensembl:ENST00000334879) - c.104A>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs751243150 | 35 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.9450404C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450404C>T Locations: - p.His35Tyr (Ensembl:ENST00000334879) - c.103C>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs750019137 | 36 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.9450409C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450409C>A Locations: - p.Cys36Ter (Ensembl:ENST00000334879) - c.108C>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs767019411 | 36 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450408G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450408G>T Locations: - p.Cys36Phe (Ensembl:ENST00000334879) - c.107G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1560129615 | 36 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450407T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450407T>G Locations: - p.Cys36Gly (Ensembl:ENST00000334879) - c.106T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1560129615 | 36 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450407T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450407T>C Locations: - p.Cys36Arg (Ensembl:ENST00000334879) - c.106T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs767019411 | 36 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450408G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450408G>A Locations: - p.Cys36Tyr (Ensembl:ENST00000334879) - c.107G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs756105487 | 37 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.9450411G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450411G>A Locations: - p.Arg37Lys (Ensembl:ENST00000334879) - c.110G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs766432040 | 38 | L>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.9450413C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450413C>A Locations: - p.Leu38Met (Ensembl:ENST00000334879) - c.112C>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs766432040 | 38 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9450413C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450413C>G Locations: - p.Leu38Val (Ensembl:ENST00000334879) - c.112C>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1202995250 | 39 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.9450418G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450418G>C Locations: - p.Lys39Asn (Ensembl:ENST00000334879) - c.117G>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1009770951 | 39 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.9450417A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450417A>G Locations: - p.Lys39Arg (Ensembl:ENST00000334879) - c.116A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs754851773 | 40 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.9450421C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450421C>A Locations: - p.Cys40Ter (Ensembl:ENST00000334879) - c.120C>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1717626635 | 40 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450420G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450420G>T Locations: - p.Cys40Phe (Ensembl:ENST00000334879) - c.119G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1193612422 | 40 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450419T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450419T>C Locations: - p.Cys40Arg (Ensembl:ENST00000334879) - c.118T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1193612422 | 40 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450419T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450419T>A Locations: - p.Cys40Ser (Ensembl:ENST00000334879) - c.118T>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717626635 | 40 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450420G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450420G>A Locations: - p.Cys40Tyr (Ensembl:ENST00000334879) - c.119G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1262796694 | 41 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000004.12:g.9450424T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450424T>G Locations: - p.Asn41Lys (Ensembl:ENST00000334879) - c.123T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717626750 | 41 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.9450423A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450423A>G Locations: - p.Asn41Ser (Ensembl:ENST00000334879) - c.122A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs201768163 | 42 | A>D | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000004.12:g.9450426C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450426C>A Locations: - p.Ala42Asp (Ensembl:ENST00000334879) - c.125C>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs201768163 | 42 | A>G | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000004.12:g.9450426C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450426C>G Locations: - p.Ala42Gly (Ensembl:ENST00000334879) - c.125C>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs778955441 | 42 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.9450425G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450425G>C Locations: - p.Ala42Pro (Ensembl:ENST00000334879) - c.124G>C (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs778955441 | 42 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000004.12:g.9450425G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450425G>A Locations: - p.Ala42Thr (Ensembl:ENST00000334879) - c.124G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs201768163 | 42 | A>V | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.9450426C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450426C>T Locations: - p.Ala42Val (Ensembl:ENST00000334879) - c.125C>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs564242062 | 43 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000004.12:g.9450428G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450428G>A Locations: - p.Asp43Asn (Ensembl:ENST00000334879) - c.127G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs777907451 | 44 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450431G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450431G>A Locations: - p.Glu44Lys (Ensembl:ENST00000334879) - c.130G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1301035035 | 45 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.9450434C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450434C>T Locations: - p.His45Tyr (Ensembl:ENST00000334879) - c.133C>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs200007452 | 46 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450438C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450438C>A Locations: - p.Ala46Glu (Ensembl:ENST00000334879) - c.137C>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717628041 | 46 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450437G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450437G>C Locations: - p.Ala46Pro (Ensembl:ENST00000334879) - c.136G>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717628041 | 46 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.9450437G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450437G>A Locations: - p.Ala46Thr (Ensembl:ENST00000334879) - c.136G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs200007452 | 46 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450438C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450438C>T Locations: - p.Ala46Val (Ensembl:ENST00000334879) - c.137C>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717628325 | 47 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.382) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450441T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450441T>G Locations: - p.Ile47Ser (Ensembl:ENST00000334879) - c.140T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs777131525 | 47 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000004.12:g.9450440A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450440A>G Locations: - p.Ile47Val (Ensembl:ENST00000334879) - c.139A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs775754854 | 48 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.307) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.9450443A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450443A>G Locations: - p.Arg48Gly (Ensembl:ENST00000334879) - c.142A>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1717628856 | 49 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450447A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450447A>T Locations: - p.Tyr49Phe (Ensembl:ENST00000334879) - c.146A>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717628818 | 49 | Y>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.9450446T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450446T>A Locations: - p.Tyr49Asn (Ensembl:ENST00000334879) - c.145T>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs772789830 | 50 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.9450451T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450451T>A Locations: - p.Cys50Ter (Ensembl:ENST00000334879) - c.150T>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs767131989 | 50 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450450G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450450G>T Locations: - p.Cys50Phe (Ensembl:ENST00000334879) - c.149G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
COSV58416038 COSV58416038,COSV58416294 COSV58416294 | 50 | C>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.9450450del Consequence type: frameshift Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450450del Locations: - c.149del (NCI-TCGA:ENST00000334879) - p.C50Lfs*10 (NCI-TCGA:ENST00000334879) Source type: large scale study | |||||||
rs772789830 | 50 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450451T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450451T>G Locations: - p.Cys50Trp (Ensembl:ENST00000334879) - c.150T>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs77388586 | 51 | A>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000004.12:g.9450453C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450453C>A Locations: - p.Ala51Asp (Ensembl:ENST00000334879) - c.152C>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs77388586 | 51 | A>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000004.12:g.9450453C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450453C>G Locations: - p.Ala51Gly (Ensembl:ENST00000334879) - c.152C>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs760266264 | 51 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000004.12:g.9450452G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450452G>A Locations: - p.Ala51Thr (Ensembl:ENST00000334879) - c.151G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs77388586 | 51 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000004.12:g.9450453C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450453C>T Locations: - p.Ala51Val (Ensembl:ENST00000334879) - c.152C>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1717629443 | 52 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.9450457C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450457C>G Locations: - p.Asp52Glu (Ensembl:ENST00000334879) - c.156C>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs77132996 | 52 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.9450455G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450455G>A Locations: - p.Asp52Asn (Ensembl:ENST00000334879) - c.154G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs77132996 | 52 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450455G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450455G>T Locations: - p.Asp52Tyr (Ensembl:ENST00000334879) - c.154G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs754910671 | 53 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.9450459T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450459T>G Locations: - p.Phe53Cys (Ensembl:ENST00000334879) - c.158T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs754910671 | 53 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000004.12:g.9450459T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450459T>A Locations: - p.Phe53Tyr (Ensembl:ENST00000334879) - c.158T>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs765057087 | 54 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.9450462G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450462G>T Locations: - p.Ser54Ile (Ensembl:ENST00000334879) - c.161G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
COSV100607846 | 55 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.9450464A>T Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450464A>T Locations: - c.163A>T (NCI-TCGA:ENST00000334879) - p.I55F (NCI-TCGA:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717629684 | 55 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450466C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450466C>G Locations: - p.Ile55Met (Ensembl:ENST00000334879) - c.165C>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1560129677 | 55 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450465T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450465T>A Locations: - p.Ile55Asn (Ensembl:ENST00000334879) - c.164T>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs752489683 | 56 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450468G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450468G>T Locations: - p.Cys56Phe (Ensembl:ENST00000334879) - c.167G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1444780789 | 56 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450467T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450467T>C Locations: - p.Cys56Arg (Ensembl:ENST00000334879) - c.166T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs758639328 | 57 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450471G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450471G>T Locations: - p.Cys57Phe (Ensembl:ENST00000334879) - c.170G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs758639328 | 57 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450471G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450471G>A Locations: - p.Cys57Tyr (Ensembl:ENST00000334879) - c.170G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
TCGA novel | 59 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000004.12:g.9450476C>A Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450476C>A Locations: - c.175C>A (NCI-TCGA:ENST00000334879) - p.L59M (NCI-TCGA:ENST00000334879) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1160708922 | 59 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000004.12:g.9450476C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450476C>G Locations: - p.Leu59Val (Ensembl:ENST00000334879) - c.175C>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1420082439 | 60 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450481G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450481G>T Locations: - p.Lys60Asn (Ensembl:ENST00000334879) - c.180G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs374969590 | 61 | I>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.9450482A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450482A>T Locations: - p.Ile61Phe (Ensembl:ENST00000334879) - c.181A>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs367863361 | 61 | I>M | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.9450484C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450484C>G Locations: - p.Ile61Met (Ensembl:ENST00000334879) - c.183C>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs973463244 | 61 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.9450483T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450483T>A Locations: - p.Ile61Asn (Ensembl:ENST00000334879) - c.182T>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs374969590 | 61 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.9450482A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450482A>G Locations: - p.Ile61Val (Ensembl:ENST00000334879) - c.181A>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs528558970 | 62 | I>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000004.12:g.9450485A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450485A>T Locations: - p.Ile62Phe (Ensembl:ENST00000334879) - c.184A>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs72648874 | 62 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000004.12:g.9450486T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450486T>G Locations: - p.Ile62Ser (Ensembl:ENST00000334879) - c.185T>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs72648874 | 62 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000004.12:g.9450486T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450486T>C Locations: - p.Ile62Thr (Ensembl:ENST00000334879) - c.185T>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs528558970 | 62 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000004.12:g.9450485A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450485A>G Locations: - p.Ile62Val (Ensembl:ENST00000334879) - c.184A>G (Ensembl:ENST00000334879) Source type: large scale study | |||||||
COSV58416594 rs1334210583 | 63 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0.04) - PolyPhen: benign (0.05) - SIFT: tolerated (0.29) Somatic: No Population frequencies: - MAF: 0.000004079 (gnomAD) Accession: NC_000004.12:g.9450488G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450488G>A Locations: - p.E63K (NCI-TCGA:ENST00000334879) - p.Glu63Lys (Ensembl:ENST00000334879) - c.187G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs770264299 | 64 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.9450492T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450492T>C Locations: - p.Ile64Thr (Ensembl:ENST00000334879) - c.191T>C (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1339396820 | 64 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000004.12:g.9450491A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450491A>G Locations: - p.Ile64Val (Ensembl:ENST00000334879) - c.190A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs749619910 | 65 | D>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000004.12:g.9450495A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450495A>C Locations: - p.Asp65Ala (Ensembl:ENST00000334879) - c.194A>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs28373658 | 65 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000004.12:g.9450496C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450496C>A Locations: - p.Asp65Glu (Ensembl:ENST00000334879) - c.195C>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
COSV58416106 rs749619910 | 65 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.17) - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Population frequencies: - MAF: 0.000008164 (gnomAD) Accession: NC_000004.12:g.9450495A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450495A>G Locations: - p.D65G (NCI-TCGA:ENST00000334879) - p.Asp65Gly (Ensembl:ENST00000334879) - c.194A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs2108838894 | 65 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.9450494G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450494G>C Locations: - p.Asp65His (Ensembl:ENST00000334879) - c.193G>C (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs369702220 | 66 | G>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.9450497G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450497G>T Locations: - p.Gly66Ter (Ensembl:ENST00000334879) - c.196G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs1296522464 | 66 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000004.12:g.9450498G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450498G>A Locations: - p.Gly66Glu (Ensembl:ENST00000334879) - c.197G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs369702220 | 66 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000004.12:g.9450497G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450497G>A Locations: - p.Gly66Arg (Ensembl:ENST00000334879) - c.196G>A (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs199990328 | 67 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.9450500C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450500C>A Locations: - p.Gln67Lys (Ensembl:ENST00000334879) - c.199C>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs1717631046 | 68 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.9450503A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450503A>G Locations: - p.Lys68Glu (Ensembl:ENST00000334879) - c.202A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs776328230 | 68 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.9450505G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450505G>T Locations: - p.Lys68Asn (Ensembl:ENST00000334879) - c.204G>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs765955708 | 68 | K>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.9450504A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450504A>G Locations: - p.Lys68Arg (Ensembl:ENST00000334879) - c.203A>G (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs564521813 | 69 | K>M | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000004.12:g.9450507A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450507A>T Locations: - p.Lys69Met (Ensembl:ENST00000334879) - c.206A>T (Ensembl:ENST00000334879) Source type: large scale study | |||||||
rs200692680 | 70 | W>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.9450511G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450511G>A Locations: - p.Trp70Ter (Ensembl:ENST00000334879) - c.210G>A (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs200692680 | 70 | W>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450511G>C, NC_000004.12:g.9450511G>T Codon: TGG/TGC Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450511G>C, NC_000004.12:g.9450511G>T Locations: - p.Trp70Cys (Ensembl:ENST00000334879) - c.210G>C (Ensembl:ENST00000334879) - c.210G>T (Ensembl:ENST00000334879) Source type: large scale study Cross-references: | |||||||
rs573143592 | 70 | W>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.9450509T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 4p16.1 Genomic location: NC_000004.12:g.9450509T>G Locations: - p.Trp70Gly (Ensembl:ENST00000334879) - c.208T>G (Ensembl:ENST00000334879) Source type: large scale study |