Q9UMR5 · PPT2_HUMAN
- ProteinLysosomal thioesterase PPT2
- GenePPT2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids302 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1330851503 | 2 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000006.12:g.32154599T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154599T>G Locations: - p.Leu2Arg (Ensembl:ENST00000395523) - c.5T>G (Ensembl:ENST00000395523) - p.Leu2Arg (Ensembl:ENST00000375137) - c.5T>G (Ensembl:ENST00000375137) - p.Leu2Arg (Ensembl:ENST00000324816) - c.5T>G (Ensembl:ENST00000324816) - p.Leu2Arg (Ensembl:ENST00000375143) - c.5T>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1439405224 | 3 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000006.12:g.32154601G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154601G>A Locations: - p.Gly3Arg (Ensembl:ENST00000375143) - c.7G>A (Ensembl:ENST00000375143) - p.Gly3Arg (Ensembl:ENST00000324816) - c.7G>A (Ensembl:ENST00000324816) - p.Gly3Arg (Ensembl:ENST00000375137) - c.7G>A (Ensembl:ENST00000375137) - p.Gly3Arg (Ensembl:ENST00000395523) - c.7G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV99278253 | 4 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000006.12:g.32154605T>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154605T>G Locations: - p.L4R (NCI-TCGA:ENST00000324816) - p.Leu4Arg (cosmic curated:ENST00000324816) - c.11T>G (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs3134604 | 5 | C>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.32154609C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154609C>A Locations: - p.Cys5Ter (Ensembl:ENST00000395523) - c.15C>A (Ensembl:ENST00000395523) - p.Cys5Ter (Ensembl:ENST00000375137) - c.15C>A (Ensembl:ENST00000375137) - p.Cys5Ter (Ensembl:ENST00000375143) - c.15C>A (Ensembl:ENST00000375143) - p.Cys5Ter (Ensembl:ENST00000324816) - c.15C>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783606940 | 5 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000006.12:g.32154608G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154608G>C Locations: - p.Cys5Ser (Ensembl:ENST00000324816) - c.14G>C (Ensembl:ENST00000324816) - p.Cys5Ser (Ensembl:ENST00000375143) - c.14G>C (Ensembl:ENST00000375143) - p.Cys5Ser (Ensembl:ENST00000375137) - c.14G>C (Ensembl:ENST00000375137) - p.Cys5Ser (Ensembl:ENST00000395523) - c.14G>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
VAR_027107 COSV52999868 rs3134604 | 5 | C>W | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32154609C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154609C>G Locations: - p.Cys5Trp (UniProt:Q9UMR5) Source type: mixed | |||||||
rs749590210 | 6 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000006.12:g.32154610G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154610G>A Locations: - p.Gly6Arg (Ensembl:ENST00000375137) - c.16G>A (Ensembl:ENST00000375137) - p.Gly6Arg (Ensembl:ENST00000375143) - c.16G>A (Ensembl:ENST00000375143) - p.Gly6Arg (Ensembl:ENST00000395523) - c.16G>A (Ensembl:ENST00000395523) - p.Gly6Arg (Ensembl:ENST00000324816) - c.16G>A (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs938275417 | 9 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000006.12:g.32154619C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154619C>T Locations: - p.Leu9Phe (Ensembl:ENST00000395523) - c.25C>T (Ensembl:ENST00000395523) - p.Leu9Phe (Ensembl:ENST00000375137) - c.25C>T (Ensembl:ENST00000375137) - p.Leu9Phe (Ensembl:ENST00000375143) - c.25C>T (Ensembl:ENST00000375143) - p.Leu9Phe (Ensembl:ENST00000324816) - c.25C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs755281509 | 9 | L>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000006.12:g.32154620T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154620T>A Locations: - p.Leu9His (Ensembl:ENST00000324816) - c.26T>A (Ensembl:ENST00000324816) - p.Leu9His (Ensembl:ENST00000375143) - c.26T>A (Ensembl:ENST00000375143) - p.Leu9His (Ensembl:ENST00000375137) - c.26T>A (Ensembl:ENST00000375137) - p.Leu9His (Ensembl:ENST00000395523) - c.26T>A (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs755281509 | 9 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000006.12:g.32154620T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154620T>C Locations: - p.Leu9Pro (Ensembl:ENST00000324816) - c.26T>C (Ensembl:ENST00000324816) - p.Leu9Pro (Ensembl:ENST00000375143) - c.26T>C (Ensembl:ENST00000375143) - p.Leu9Pro (Ensembl:ENST00000375137) - c.26T>C (Ensembl:ENST00000375137) - p.Leu9Pro (Ensembl:ENST00000395523) - c.26T>C (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs1783610285 | 11 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000006.12:g.32154625G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154625G>A Locations: - p.Ala11Thr (Ensembl:ENST00000324816) - c.31G>A (Ensembl:ENST00000324816) - p.Ala11Thr (Ensembl:ENST00000375143) - c.31G>A (Ensembl:ENST00000375143) - p.Ala11Thr (Ensembl:ENST00000375137) - c.31G>A (Ensembl:ENST00000375137) - p.Ala11Thr (Ensembl:ENST00000395523) - c.31G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs779258367 | 13 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.32154633G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154633G>A Locations: - p.Trp13Ter (Ensembl:ENST00000324816) - c.39G>A (Ensembl:ENST00000324816) - p.Trp13Ter (Ensembl:ENST00000395523) - c.39G>A (Ensembl:ENST00000395523) - p.Trp13Ter (Ensembl:ENST00000375137) - c.39G>A (Ensembl:ENST00000375137) - p.Trp13Ter (Ensembl:ENST00000375143) - c.39G>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs779258367 | 13 | W>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000006.12:g.32154633G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154633G>T Locations: - p.Trp13Cys (Ensembl:ENST00000324816) - c.39G>T (Ensembl:ENST00000324816) - p.Trp13Cys (Ensembl:ENST00000375143) - c.39G>T (Ensembl:ENST00000375143) - p.Trp13Cys (Ensembl:ENST00000395523) - c.39G>T (Ensembl:ENST00000395523) - p.Trp13Cys (Ensembl:ENST00000375137) - c.39G>T (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs748585480 | 14 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000006.12:g.32154634G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154634G>A Locations: - p.Val14Ile (Ensembl:ENST00000324816) - c.40G>A (Ensembl:ENST00000324816) - p.Val14Ile (Ensembl:ENST00000375143) - c.40G>A (Ensembl:ENST00000375143) - p.Val14Ile (Ensembl:ENST00000375137) - c.40G>A (Ensembl:ENST00000375137) - p.Val14Ile (Ensembl:ENST00000395523) - c.40G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1783612292 | 16 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154641T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154641T>G Locations: - p.Leu16Arg (Ensembl:ENST00000395523) - c.47T>G (Ensembl:ENST00000395523) - p.Leu16Arg (Ensembl:ENST00000324816) - c.47T>G (Ensembl:ENST00000324816) - p.Leu16Arg (Ensembl:ENST00000375143) - c.47T>G (Ensembl:ENST00000375143) - p.Leu16Arg (Ensembl:ENST00000375137) - c.47T>G (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs1783611919 | 16 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.32154640C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154640C>G Locations: - p.Leu16Val (Ensembl:ENST00000395523) - c.46C>G (Ensembl:ENST00000395523) - p.Leu16Val (Ensembl:ENST00000375137) - c.46C>G (Ensembl:ENST00000375137) - p.Leu16Val (Ensembl:ENST00000324816) - c.46C>G (Ensembl:ENST00000324816) - p.Leu16Val (Ensembl:ENST00000375143) - c.46C>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1783612683 | 17 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.32154643C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154643C>G Locations: - p.Leu17Val (Ensembl:ENST00000395523) - c.49C>G (Ensembl:ENST00000395523) - p.Leu17Val (Ensembl:ENST00000375137) - c.49C>G (Ensembl:ENST00000375137) - p.Leu17Val (Ensembl:ENST00000375143) - c.49C>G (Ensembl:ENST00000375143) - p.Leu17Val (Ensembl:ENST00000324816) - c.49C>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1280415825 | 19 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000006.12:g.32154649C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154649C>T Locations: - p.Pro19Ser (Ensembl:ENST00000324816) - c.55C>T (Ensembl:ENST00000324816) - p.Pro19Ser (Ensembl:ENST00000395523) - c.55C>T (Ensembl:ENST00000395523) - p.Pro19Ser (Ensembl:ENST00000375143) - c.55C>T (Ensembl:ENST00000375143) - p.Pro19Ser (Ensembl:ENST00000375137) - c.55C>T (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs199569262 | 20 | F>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000006.12:g.32154654C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154654C>A Locations: - p.Phe20Leu (Ensembl:ENST00000324816) - c.60C>A (Ensembl:ENST00000324816) - p.Phe20Leu (Ensembl:ENST00000395523) - c.60C>A (Ensembl:ENST00000395523) - p.Phe20Leu (Ensembl:ENST00000375137) - c.60C>A (Ensembl:ENST00000375137) - p.Phe20Leu (Ensembl:ENST00000375143) - c.60C>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs772596610 | 20 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32154653T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154653T>C Locations: - p.Phe20Ser (Ensembl:ENST00000395523) - c.59T>C (Ensembl:ENST00000395523) - p.Phe20Ser (Ensembl:ENST00000375137) - c.59T>C (Ensembl:ENST00000375137) - p.Phe20Ser (Ensembl:ENST00000324816) - c.59T>C (Ensembl:ENST00000324816) - p.Phe20Ser (Ensembl:ENST00000375143) - c.59T>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs770544843 | 22 | P>T | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000006.12:g.32154658C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154658C>A Locations: - p.Pro22Thr (Ensembl:ENST00000324816) - c.64C>A (Ensembl:ENST00000324816) - p.Pro22Thr (Ensembl:ENST00000375143) - c.64C>A (Ensembl:ENST00000375143) - p.Pro22Thr (Ensembl:ENST00000375137) - c.64C>A (Ensembl:ENST00000375137) - p.Pro22Thr (Ensembl:ENST00000395523) - c.64C>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV99278676 rs945364426 | 23 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.00000407 (gnomAD) Accession: NC_000006.12:g.32154662T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154662T>C Locations: - p.L23P (NCI-TCGA:ENST00000395523) - p.L23P (NCI-TCGA:ENST00000375137) - p.L23P (NCI-TCGA:ENST00000324816) - p.L23P (NCI-TCGA:ENST00000375143) - p.Leu23Pro (Ensembl:ENST00000324816) - c.68T>C (Ensembl:ENST00000324816) - p.Leu23Pro (Ensembl:ENST00000375143) - c.68T>C (Ensembl:ENST00000375143) - p.Leu23Pro (Ensembl:ENST00000375137) - c.68T>C (Ensembl:ENST00000375137) - p.Leu23Pro (Ensembl:ENST00000395523) - c.68T>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs149978286 | 25 | L>P | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32154668T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154668T>C Locations: - p.Leu25Pro (Ensembl:ENST00000324816) - c.74T>C (Ensembl:ENST00000324816) - p.Leu25Pro (Ensembl:ENST00000375143) - c.74T>C (Ensembl:ENST00000375143) - p.Leu25Pro (Ensembl:ENST00000375137) - c.74T>C (Ensembl:ENST00000375137) - p.Leu25Pro (Ensembl:ENST00000395523) - c.74T>C (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs1042474476 | 26 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000006.12:g.32154670C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154670C>T Locations: - p.Leu26Phe (Ensembl:ENST00000375137) - c.76C>T (Ensembl:ENST00000375137) - p.Leu26Phe (Ensembl:ENST00000395523) - c.76C>T (Ensembl:ENST00000395523) - p.Leu26Phe (Ensembl:ENST00000375143) - c.76C>T (Ensembl:ENST00000375143) - p.Leu26Phe (Ensembl:ENST00000324816) - c.76C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
TCGA novel | 28 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.32154676G>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154676G>A Locations: - c.82G>A (NCI-TCGA:ENST00000324816) - p.A28T (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52997487 | 29 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.346) - SIFT: tolerated (0.66) Somatic: Yes Accession: NC_000006.12:g.32154680C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154680C>T Locations: - p.P29L (NCI-TCGA:ENST00000324816) - p.Pro29Leu (cosmic curated:ENST00000324816) - c.86C>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs2127386168 | 30 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000006.12:g.32154683C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154683C>G Locations: - p.Ala30Gly (Ensembl:ENST00000324816) - c.89C>G (Ensembl:ENST00000324816) - p.Ala30Gly (Ensembl:ENST00000375143) - c.89C>G (Ensembl:ENST00000375143) - p.Ala30Gly (Ensembl:ENST00000375137) - c.89C>G (Ensembl:ENST00000375137) - p.Ala30Gly (Ensembl:ENST00000395523) - c.89C>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs552013847 | 31 | P>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000006.12:g.32154686C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154686C>A Locations: - p.Pro31His (Ensembl:ENST00000324816) - c.92C>A (Ensembl:ENST00000324816) - p.Pro31His (Ensembl:ENST00000375143) - c.92C>A (Ensembl:ENST00000375143) - p.Pro31His (Ensembl:ENST00000375137) - c.92C>A (Ensembl:ENST00000375137) - p.Pro31His (Ensembl:ENST00000395523) - c.92C>A (Ensembl:ENST00000395523) Source type: large scale study | |||||||
COSV99278463 rs552013847 | 31 | P>L | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.79) Somatic: Yes Accession: NC_000006.12:g.32154686C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154686C>T Locations: - p.Pro31Leu (Ensembl:ENST00000375143) - c.92C>T (Ensembl:ENST00000375143) - p.Pro31Leu (Ensembl:ENST00000375137) - c.92C>T (Ensembl:ENST00000375137) - p.Pro31Leu (Ensembl:ENST00000395523) - c.92C>T (Ensembl:ENST00000395523) - p.Pro31Leu (Ensembl:ENST00000324816) - c.92C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52998565 rs766537037 | 32 | H>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000006.12:g.32154689A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154689A>G Locations: - p.His32Arg (Ensembl:ENST00000324816) - c.95A>G (Ensembl:ENST00000324816) - p.His32Arg (Ensembl:ENST00000375143) - c.95A>G (Ensembl:ENST00000375143) - p.His32Arg (Ensembl:ENST00000375137) - c.95A>G (Ensembl:ENST00000375137) - p.His32Arg (Ensembl:ENST00000395523) - c.95A>G (Ensembl:ENST00000395523) Source type: large scale study | |||||||
VAR_027108 COSV52999101 rs3096696 | 34 | A>E | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32154695C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154695C>A Locations: - p.Ala34Glu (UniProt:Q9UMR5) Source type: mixed | |||||||
COSV99278710 | 35 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.832) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000006.12:g.32154698C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154698C>T Locations: - p.S35F (NCI-TCGA:ENST00000324816) - p.Ser35Phe (cosmic curated:ENST00000324816) - c.104C>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs779206910 | 35 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.32154697T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154697T>A Locations: - p.Ser35Thr (Ensembl:ENST00000375137) - c.103T>A (Ensembl:ENST00000375137) - p.Ser35Thr (Ensembl:ENST00000375143) - c.103T>A (Ensembl:ENST00000375143) - p.Ser35Thr (Ensembl:ENST00000324816) - c.103T>A (Ensembl:ENST00000324816) - p.Ser35Thr (Ensembl:ENST00000395523) - c.103T>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52997865 rs758805739 | 36 | Y>* | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32154702C>A Codon: TAC/TAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154702C>A Locations: - p.Tyr36Ter (Ensembl:ENST00000395523) - c.108C>A (Ensembl:ENST00000395523) - p.Tyr36Ter (Ensembl:ENST00000375143) - c.108C>A (Ensembl:ENST00000375143) - p.Tyr36Ter (Ensembl:ENST00000375137) - c.108C>A (Ensembl:ENST00000375137) - p.Tyr36Ter (Ensembl:ENST00000324816) - c.108C>A (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs748532154 | 36 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32154700T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154700T>C Locations: - p.Tyr36His (Ensembl:ENST00000395523) - c.106T>C (Ensembl:ENST00000395523) - p.Tyr36His (Ensembl:ENST00000375137) - c.106T>C (Ensembl:ENST00000375137) - p.Tyr36His (Ensembl:ENST00000375143) - c.106T>C (Ensembl:ENST00000375143) - p.Tyr36His (Ensembl:ENST00000324816) - c.106T>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1369320392 | 38 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154707C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154707C>A Locations: - p.Pro38Gln (Ensembl:ENST00000375137) - c.113C>A (Ensembl:ENST00000375137) - p.Pro38Gln (Ensembl:ENST00000375143) - c.113C>A (Ensembl:ENST00000375143) - p.Pro38Gln (Ensembl:ENST00000395523) - c.113C>A (Ensembl:ENST00000395523) - p.Pro38Gln (Ensembl:ENST00000324816) - c.113C>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52998128 rs1783624003 | 38 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.32154706C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154706C>T Locations: - p.P38S (NCI-TCGA:ENST00000395523) - p.P38S (NCI-TCGA:ENST00000375137) - p.P38S (NCI-TCGA:ENST00000324816) - p.P38S (NCI-TCGA:ENST00000375143) - p.Pro38Ser (Ensembl:ENST00000375137) - c.112C>T (Ensembl:ENST00000375137) - p.Pro38Ser (Ensembl:ENST00000375143) - c.112C>T (Ensembl:ENST00000375143) - p.Pro38Ser (Ensembl:ENST00000324816) - c.112C>T (Ensembl:ENST00000324816) - p.Pro38Ser (Ensembl:ENST00000395523) - c.112C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52999820 | 40 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32154714C>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154714C>G Locations: - p.I40M (NCI-TCGA:ENST00000324816) - p.Ile40Met (cosmic curated:ENST00000324816) - c.120C>G (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs747613803 | 42 | V>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32154719T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154719T>C Locations: - p.Val42Ala (Ensembl:ENST00000324816) - c.125T>C (Ensembl:ENST00000324816) - p.Val42Ala (Ensembl:ENST00000375143) - c.125T>C (Ensembl:ENST00000375143) - p.Val42Ala (Ensembl:ENST00000375137) - c.125T>C (Ensembl:ENST00000375137) - p.Val42Ala (Ensembl:ENST00000395523) - c.125T>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
TCGA novel | 42 | V>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154719T>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154719T>A Locations: - c.125T>A (NCI-TCGA:ENST00000324816) - p.V42E (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1396320012 | 43 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154722A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154722A>G Locations: - p.His43Arg (Ensembl:ENST00000395523) - c.128A>G (Ensembl:ENST00000395523) - p.His43Arg (Ensembl:ENST00000375137) - c.128A>G (Ensembl:ENST00000375137) - p.His43Arg (Ensembl:ENST00000375143) - c.128A>G (Ensembl:ENST00000375143) - p.His43Arg (Ensembl:ENST00000324816) - c.128A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783627613 | 45 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154728T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154728T>C Locations: - p.Leu45Pro (Ensembl:ENST00000395523) - c.134T>C (Ensembl:ENST00000395523) - p.Leu45Pro (Ensembl:ENST00000375137) - c.134T>C (Ensembl:ENST00000375137) - p.Leu45Pro (Ensembl:ENST00000375143) - c.134T>C (Ensembl:ENST00000375143) - p.Leu45Pro (Ensembl:ENST00000324816) - c.134T>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
TCGA novel | 46 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000006.12:g.32154730T>C Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154730T>C Locations: - c.136T>C (NCI-TCGA:ENST00000324816) - p.F46L (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1015439217 | 47 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154733G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154733G>C Locations: - p.Asp47His (Ensembl:ENST00000395523) - c.139G>C (Ensembl:ENST00000395523) - p.Asp47His (Ensembl:ENST00000375137) - c.139G>C (Ensembl:ENST00000375137) - p.Asp47His (Ensembl:ENST00000375143) - c.139G>C (Ensembl:ENST00000375143) - p.Asp47His (Ensembl:ENST00000324816) - c.139G>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1015439217 | 47 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32154733G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154733G>A Locations: - p.Asp47Asn (Ensembl:ENST00000395523) - c.139G>A (Ensembl:ENST00000395523) - p.Asp47Asn (Ensembl:ENST00000375137) - c.139G>A (Ensembl:ENST00000375137) - p.Asp47Asn (Ensembl:ENST00000375143) - c.139G>A (Ensembl:ENST00000375143) - p.Asp47Asn (Ensembl:ENST00000324816) - c.139G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52997428 | 47 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.32154733G>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154733G>T Locations: - p.D47Y (NCI-TCGA:ENST00000324816) - p.Asp47Tyr (cosmic curated:ENST00000324816) - c.139G>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs994756703 | 48 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.32154737G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154737G>A Locations: - p.Ser48Asn (Ensembl:ENST00000395523) - c.143G>A (Ensembl:ENST00000395523) - p.Ser48Asn (Ensembl:ENST00000375137) - c.143G>A (Ensembl:ENST00000375137) - p.Ser48Asn (Ensembl:ENST00000375143) - c.143G>A (Ensembl:ENST00000375143) - p.Ser48Asn (Ensembl:ENST00000324816) - c.143G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1412433088 | 49 | S>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154740C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154740C>G Locations: - p.Ser49Trp (Ensembl:ENST00000395523) - c.146C>G (Ensembl:ENST00000395523) - p.Ser49Trp (Ensembl:ENST00000375143) - c.146C>G (Ensembl:ENST00000375143) - p.Ser49Trp (Ensembl:ENST00000375137) - c.146C>G (Ensembl:ENST00000375137) - p.Ser49Trp (Ensembl:ENST00000324816) - c.146C>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs534337753 | 50 | Y>C | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.32154743A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154743A>G Locations: - p.Tyr50Cys (Ensembl:ENST00000395523) - c.149A>G (Ensembl:ENST00000395523) - p.Tyr50Cys (Ensembl:ENST00000375137) - c.149A>G (Ensembl:ENST00000375137) - p.Tyr50Cys (Ensembl:ENST00000375143) - c.149A>G (Ensembl:ENST00000375143) - p.Tyr50Cys (Ensembl:ENST00000324816) - c.149A>G (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs1340763316 | 51 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.361) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32154746G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154746G>T Locations: - p.Ser51Ile (Ensembl:ENST00000324816) - c.152G>T (Ensembl:ENST00000324816) - p.Ser51Ile (Ensembl:ENST00000375143) - c.152G>T (Ensembl:ENST00000375143) - p.Ser51Ile (Ensembl:ENST00000375137) - c.152G>T (Ensembl:ENST00000375137) - p.Ser51Ile (Ensembl:ENST00000395523) - c.152G>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1340763316 | 51 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000006.12:g.32154746G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154746G>A Locations: - p.Ser51Asn (Ensembl:ENST00000324816) - c.152G>A (Ensembl:ENST00000324816) - p.Ser51Asn (Ensembl:ENST00000375143) - c.152G>A (Ensembl:ENST00000375143) - p.Ser51Asn (Ensembl:ENST00000375137) - c.152G>A (Ensembl:ENST00000375137) - p.Ser51Asn (Ensembl:ENST00000395523) - c.152G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1783631279 | 52 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32154749T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154749T>C Locations: - p.Phe52Ser (Ensembl:ENST00000324816) - c.155T>C (Ensembl:ENST00000324816) - p.Phe52Ser (Ensembl:ENST00000375137) - c.155T>C (Ensembl:ENST00000375137) - p.Phe52Ser (Ensembl:ENST00000375143) - c.155T>C (Ensembl:ENST00000375143) - p.Phe52Ser (Ensembl:ENST00000395523) - c.155T>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
TCGA novel | 52 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.683) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32154748T>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154748T>G Locations: - c.154T>G (NCI-TCGA:ENST00000324816) - p.F52V (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1027535206 | 53 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.32154752G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154752G>A Locations: - p.Arg53His (Ensembl:ENST00000324816) - c.158G>A (Ensembl:ENST00000324816) - p.Arg53His (Ensembl:ENST00000375143) - c.158G>A (Ensembl:ENST00000375143) - p.Arg53His (Ensembl:ENST00000375137) - c.158G>A (Ensembl:ENST00000375137) - p.Arg53His (Ensembl:ENST00000395523) - c.158G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs2127386396 | 54 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000006.12:g.32154754C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154754C>T Locations: - p.His54Tyr (Ensembl:ENST00000324816) - c.160C>T (Ensembl:ENST00000324816) - p.His54Tyr (Ensembl:ENST00000375137) - c.160C>T (Ensembl:ENST00000375137) - p.His54Tyr (Ensembl:ENST00000375143) - c.160C>T (Ensembl:ENST00000375143) - p.His54Tyr (Ensembl:ENST00000395523) - c.160C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52998547 | 55 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32154757C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32154757C>A Locations: - p.Leu55Met (cosmic curated:ENST00000324816) - c.163C>A (cosmic curated:ENST00000324816) - p.Leu55Met (cosmic curated:ENST00000375137) - c.163C>A (cosmic curated:ENST00000375137) - p.Leu55Met (cosmic curated:ENST00000375143) - c.163C>A (cosmic curated:ENST00000375143) - p.Leu55Met (cosmic curated:ENST00000395523) - c.163C>A (cosmic curated:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1783632028 | 55 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32154758T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154758T>A Locations: - p.Leu55Gln (Ensembl:ENST00000324816) - c.164T>A (Ensembl:ENST00000324816) - p.Leu55Gln (Ensembl:ENST00000375143) - c.164T>A (Ensembl:ENST00000375143) - p.Leu55Gln (Ensembl:ENST00000375137) - c.164T>A (Ensembl:ENST00000375137) - p.Leu55Gln (Ensembl:ENST00000395523) - c.164T>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1246717791 | 59 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.32154769A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154769A>G Locations: - p.Ile59Val (Ensembl:ENST00000395523) - c.175A>G (Ensembl:ENST00000395523) - p.Ile59Val (Ensembl:ENST00000375143) - c.175A>G (Ensembl:ENST00000375143) - p.Ile59Val (Ensembl:ENST00000375137) - c.175A>G (Ensembl:ENST00000375137) - p.Ile59Val (Ensembl:ENST00000324816) - c.175A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1582604164 | 60 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.391) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.32154772A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154772A>G Locations: - p.Asn60Asp (Ensembl:ENST00000375143) - c.178A>G (Ensembl:ENST00000375143) - p.Asn60Asp (Ensembl:ENST00000375137) - c.178A>G (Ensembl:ENST00000375137) - p.Asn60Asp (Ensembl:ENST00000395523) - c.178A>G (Ensembl:ENST00000395523) - p.Asn60Asp (Ensembl:ENST00000324816) - c.178A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs143386727 | 60 | N>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000006.12:g.32154773A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154773A>G Locations: - p.Asn60Ser (Ensembl:ENST00000324816) - c.179A>G (Ensembl:ENST00000324816) - p.Asn60Ser (Ensembl:ENST00000375143) - c.179A>G (Ensembl:ENST00000375143) - p.Asn60Ser (Ensembl:ENST00000375137) - c.179A>G (Ensembl:ENST00000375137) - p.Asn60Ser (Ensembl:ENST00000395523) - c.179A>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs775330102 | 61 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32154777G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154777G>C Locations: - p.Glu61Asp (Ensembl:ENST00000375137) - c.183G>C (Ensembl:ENST00000375137) - p.Glu61Asp (Ensembl:ENST00000324816) - c.183G>C (Ensembl:ENST00000324816) - p.Glu61Asp (Ensembl:ENST00000375143) - c.183G>C (Ensembl:ENST00000375143) - p.Glu61Asp (Ensembl:ENST00000395523) - c.183G>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1338604698 | 61 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32154776A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32154776A>G Locations: - p.Glu61Gly (Ensembl:ENST00000324816) - c.182A>G (Ensembl:ENST00000324816) - p.Glu61Gly (Ensembl:ENST00000375143) - c.182A>G (Ensembl:ENST00000375143) - p.Glu61Gly (Ensembl:ENST00000375137) - c.182A>G (Ensembl:ENST00000375137) - p.Glu61Gly (Ensembl:ENST00000395523) - c.182A>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1454227918 | 63 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155033C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155033C>G Locations: - p.His63Asp (Ensembl:ENST00000395523) - c.187C>G (Ensembl:ENST00000395523) - p.His63Asp (Ensembl:ENST00000375137) - c.187C>G (Ensembl:ENST00000375137) - p.His63Asp (Ensembl:ENST00000375143) - c.187C>G (Ensembl:ENST00000375143) - p.His63Asp (Ensembl:ENST00000324816) - c.187C>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs749007289 | 63 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155035C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155035C>A Locations: - p.His63Gln (Ensembl:ENST00000395523) - c.189C>A (Ensembl:ENST00000395523) - p.His63Gln (Ensembl:ENST00000375137) - c.189C>A (Ensembl:ENST00000375137) - p.His63Gln (Ensembl:ENST00000324816) - c.189C>A (Ensembl:ENST00000324816) - p.His63Gln (Ensembl:ENST00000375143) - c.189C>A (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs1454227918 | 63 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155033C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155033C>T Locations: - p.His63Tyr (Ensembl:ENST00000395523) - c.187C>T (Ensembl:ENST00000395523) - p.His63Tyr (Ensembl:ENST00000375137) - c.187C>T (Ensembl:ENST00000375137) - p.His63Tyr (Ensembl:ENST00000375143) - c.187C>T (Ensembl:ENST00000375143) - p.His63Tyr (Ensembl:ENST00000324816) - c.187C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783664587 | 65 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155040G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155040G>A Locations: - p.Gly65Glu (Ensembl:ENST00000324816) - c.194G>A (Ensembl:ENST00000324816) - p.Gly65Glu (Ensembl:ENST00000375143) - c.194G>A (Ensembl:ENST00000375143) - p.Gly65Glu (Ensembl:ENST00000395523) - c.194G>A (Ensembl:ENST00000395523) - p.Gly65Glu (Ensembl:ENST00000375137) - c.194G>A (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
COSV52998838 | 65 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155039G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155039G>T Locations: - p.Gly65Trp (cosmic curated:ENST00000375143) - c.193G>T (cosmic curated:ENST00000375143) - p.Gly65Trp (cosmic curated:ENST00000324816) - c.193G>T (cosmic curated:ENST00000324816) - p.Gly65Trp (cosmic curated:ENST00000395523) - c.193G>T (cosmic curated:ENST00000395523) - p.Gly65Trp (cosmic curated:ENST00000375137) - c.193G>T (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs1783664911 | 66 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.812) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155043C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155043C>T Locations: - p.Thr66Ile (Ensembl:ENST00000324816) - c.197C>T (Ensembl:ENST00000324816) - p.Thr66Ile (Ensembl:ENST00000375143) - c.197C>T (Ensembl:ENST00000375143) - p.Thr66Ile (Ensembl:ENST00000375137) - c.197C>T (Ensembl:ENST00000375137) - p.Thr66Ile (Ensembl:ENST00000395523) - c.197C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs774197229 | 67 | V>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.32155045G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155045G>C Locations: - p.Val67Leu (Ensembl:ENST00000324816) - c.199G>C (Ensembl:ENST00000324816) - p.Val67Leu (Ensembl:ENST00000375143) - c.199G>C (Ensembl:ENST00000375143) - p.Val67Leu (Ensembl:ENST00000375137) - c.199G>C (Ensembl:ENST00000375137) - p.Val67Leu (Ensembl:ENST00000395523) - c.199G>C (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs1435538193 | 72 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155060G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155060G>C Locations: - p.Asp72His (Ensembl:ENST00000375137) - c.214G>C (Ensembl:ENST00000375137) - p.Asp72His (Ensembl:ENST00000324816) - c.214G>C (Ensembl:ENST00000324816) - p.Asp72His (Ensembl:ENST00000375143) - c.214G>C (Ensembl:ENST00000375143) - p.Asp72His (Ensembl:ENST00000395523) - c.214G>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1039161971 | 73 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155063C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155063C>T Locations: - p.Leu73Phe (Ensembl:ENST00000375143) - c.217C>T (Ensembl:ENST00000375143) - p.Leu73Phe (Ensembl:ENST00000324816) - c.217C>T (Ensembl:ENST00000324816) - p.Leu73Phe (Ensembl:ENST00000375137) - c.217C>T (Ensembl:ENST00000375137) - p.Leu73Phe (Ensembl:ENST00000395523) - c.217C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52998115 | 74 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155068C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155068C>G Locations: - p.Phe74Leu (cosmic curated:ENST00000324816) - c.222C>G (cosmic curated:ENST00000324816) - p.Phe74Leu (cosmic curated:ENST00000375143) - c.222C>G (cosmic curated:ENST00000375143) - p.Phe74Leu (cosmic curated:ENST00000395523) - c.222C>G (cosmic curated:ENST00000395523) - p.Phe74Leu (cosmic curated:ENST00000375137) - c.222C>G (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
COSV52997531 | 74 | F>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155066T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155066T>G Locations: - p.Phe74Val (cosmic curated:ENST00000324816) - c.220T>G (cosmic curated:ENST00000324816) - p.Phe74Val (cosmic curated:ENST00000395523) - c.220T>G (cosmic curated:ENST00000395523) - p.Phe74Val (cosmic curated:ENST00000375143) - c.220T>G (cosmic curated:ENST00000375143) - p.Phe74Val (cosmic curated:ENST00000375137) - c.220T>G (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs1561812187 | 75 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155069G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155069G>T Locations: - p.Asp75Tyr (Ensembl:ENST00000324816) - c.223G>T (Ensembl:ENST00000324816) - p.Asp75Tyr (Ensembl:ENST00000375143) - c.223G>T (Ensembl:ENST00000375143) - p.Asp75Tyr (Ensembl:ENST00000375137) - c.223G>T (Ensembl:ENST00000375137) - p.Asp75Tyr (Ensembl:ENST00000395523) - c.223G>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
TCGA novel | 77 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.32155075A>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155075A>G Locations: - c.229A>G (NCI-TCGA:ENST00000324816) - p.R77G (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel rs1368620831 | 78 | E>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: frameshift Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000006.12:g.32155074_32155077del, NC_000006.12:g.32155079A>C Consequence type: frameshift Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155074_32155077del, NC_000006.12:g.32155079A>C Locations: - c.233_236del (NCI-TCGA:ENST00000324816) - p.E78Afs*71 (NCI-TCGA:ENST00000324816) - p.Glu78Ala (Ensembl:ENST00000375143) - c.233A>C (Ensembl:ENST00000375143) - p.Glu78Ala (Ensembl:ENST00000375137) - c.233A>C (Ensembl:ENST00000375137) - p.Glu78Ala (Ensembl:ENST00000395523) - c.233A>C (Ensembl:ENST00000395523) - p.Glu78Ala (Ensembl:ENST00000324816) - c.233A>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs900298658 | 78 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000006.12:g.32155080G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155080G>C Locations: - p.Glu78Asp (Ensembl:ENST00000395523) - c.234G>C (Ensembl:ENST00000395523) - p.Glu78Asp (Ensembl:ENST00000324816) - c.234G>C (Ensembl:ENST00000324816) - p.Glu78Asp (Ensembl:ENST00000375137) - c.234G>C (Ensembl:ENST00000375137) - p.Glu78Asp (Ensembl:ENST00000375143) - c.234G>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1386160589 | 80 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.32155086G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155086G>C Locations: - p.Leu80Phe (Ensembl:ENST00000395523) - c.240G>C (Ensembl:ENST00000395523) - p.Leu80Phe (Ensembl:ENST00000375137) - c.240G>C (Ensembl:ENST00000375137) - p.Leu80Phe (Ensembl:ENST00000375143) - c.240G>C (Ensembl:ENST00000375143) - p.Leu80Phe (Ensembl:ENST00000324816) - c.240G>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs2127387059 | 81 | R>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.32155087C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155087C>T Locations: - p.Arg81Ter (Ensembl:ENST00000324816) - c.241C>T (Ensembl:ENST00000324816) - p.Arg81Ter (Ensembl:ENST00000375143) - c.241C>T (Ensembl:ENST00000375143) - p.Arg81Ter (Ensembl:ENST00000375137) - c.241C>T (Ensembl:ENST00000375137) - p.Arg81Ter (Ensembl:ENST00000395523) - c.241C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1783670336 | 85 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.32155099G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155099G>T Locations: - p.Glu85Ter (Ensembl:ENST00000375143) - c.253G>T (Ensembl:ENST00000375143) - p.Glu85Ter (Ensembl:ENST00000324816) - c.253G>T (Ensembl:ENST00000324816) - p.Glu85Ter (Ensembl:ENST00000375137) - c.253G>T (Ensembl:ENST00000375137) - p.Glu85Ter (Ensembl:ENST00000395523) - c.253G>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1209875424 | 87 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155105G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155105G>A Locations: - p.Val87Met (Ensembl:ENST00000375143) - c.259G>A (Ensembl:ENST00000375143) - p.Val87Met (Ensembl:ENST00000324816) - c.259G>A (Ensembl:ENST00000324816) - p.Val87Met (Ensembl:ENST00000395523) - c.259G>A (Ensembl:ENST00000395523) - p.Val87Met (Ensembl:ENST00000375137) - c.259G>A (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs148788801 | 91 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.717) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.32155118G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155118G>T Locations: - p.Arg91Leu (Ensembl:ENST00000395523) - c.272G>T (Ensembl:ENST00000395523) - p.Arg91Leu (Ensembl:ENST00000375137) - c.272G>T (Ensembl:ENST00000375137) - p.Arg91Leu (Ensembl:ENST00000324816) - c.272G>T (Ensembl:ENST00000324816) - p.Arg91Leu (Ensembl:ENST00000375143) - c.272G>T (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs148788801 | 91 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.32155118G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155118G>A Locations: - p.Arg91Gln (Ensembl:ENST00000395523) - c.272G>A (Ensembl:ENST00000395523) - p.Arg91Gln (Ensembl:ENST00000375137) - c.272G>A (Ensembl:ENST00000375137) - p.Arg91Gln (Ensembl:ENST00000375143) - c.272G>A (Ensembl:ENST00000375143) - p.Arg91Gln (Ensembl:ENST00000324816) - c.272G>A (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs765362680 | 96 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.32155133C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155133C>G Locations: - p.Pro96Arg (Ensembl:ENST00000395523) - c.287C>G (Ensembl:ENST00000395523) - p.Pro96Arg (Ensembl:ENST00000375137) - c.287C>G (Ensembl:ENST00000375137) - p.Pro96Arg (Ensembl:ENST00000324816) - c.287C>G (Ensembl:ENST00000324816) - p.Pro96Arg (Ensembl:ENST00000375143) - c.287C>G (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs1052207357 | 97 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155137C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155137C>G Locations: - p.Ile97Met (Ensembl:ENST00000395523) - c.291C>G (Ensembl:ENST00000395523) - p.Ile97Met (Ensembl:ENST00000324816) - c.291C>G (Ensembl:ENST00000324816) - p.Ile97Met (Ensembl:ENST00000375137) - c.291C>G (Ensembl:ENST00000375137) - p.Ile97Met (Ensembl:ENST00000375143) - c.291C>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
COSV52998301 COSV52998301,COSV52998559 COSV52998559 | 98 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.289) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000006.12:g.32155140G>A, NC_000006.12:g.32155140G>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155140G>A, NC_000006.12:g.32155140G>T Locations: - p.M98I (NCI-TCGA:ENST00000324816) - p.Met98Ile (cosmic curated:ENST00000324816) - c.294G>A (cosmic curated:ENST00000324816) - p.Met98Ile (cosmic curated:ENST00000395523) - c.294G>T (cosmic curated:ENST00000395523) - p.Met98Ile (cosmic curated:ENST00000375143) - c.294G>T (cosmic curated:ENST00000375143) - c.294G>T (cosmic curated:ENST00000324816) - p.Met98Ile (cosmic curated:ENST00000375137) - c.294G>T (cosmic curated:ENST00000375137) Source type: large scale study | |||||||
rs1330159713 | 98 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.377) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.32155138A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155138A>C Locations: - p.Met98Leu (Ensembl:ENST00000375137) - c.292A>C (Ensembl:ENST00000375137) - p.Met98Leu (Ensembl:ENST00000395523) - c.292A>C (Ensembl:ENST00000395523) - p.Met98Leu (Ensembl:ENST00000324816) - c.292A>C (Ensembl:ENST00000324816) - p.Met98Leu (Ensembl:ENST00000375143) - c.292A>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs62402749 | 98 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32155139T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155139T>C Locations: - p.Met98Thr (Ensembl:ENST00000375137) - c.293T>C (Ensembl:ENST00000375137) - p.Met98Thr (Ensembl:ENST00000395523) - c.293T>C (Ensembl:ENST00000395523) - p.Met98Thr (Ensembl:ENST00000375143) - c.293T>C (Ensembl:ENST00000375143) - p.Met98Thr (Ensembl:ENST00000324816) - c.293T>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs764309245 | 99 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.32155141G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155141G>T Locations: - p.Ala99Ser (Ensembl:ENST00000395523) - c.295G>T (Ensembl:ENST00000395523) - p.Ala99Ser (Ensembl:ENST00000375143) - c.295G>T (Ensembl:ENST00000375143) - p.Ala99Ser (Ensembl:ENST00000375137) - c.295G>T (Ensembl:ENST00000375137) - p.Ala99Ser (Ensembl:ENST00000324816) - c.295G>T (Ensembl:ENST00000324816) Source type: large scale study | |||||||
COSV99278572 rs764309245 | 99 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000006.12:g.32155141G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155141G>A Locations: - p.Ala99Thr (Ensembl:ENST00000375143) - c.295G>A (Ensembl:ENST00000375143) - p.Ala99Thr (Ensembl:ENST00000375137) - c.295G>A (Ensembl:ENST00000375137) - p.Ala99Thr (Ensembl:ENST00000324816) - c.295G>A (Ensembl:ENST00000324816) - p.Ala99Thr (Ensembl:ENST00000395523) - c.295G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV99278239 | 101 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000006.12:g.32155147G>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155147G>T Locations: - p.A101S (NCI-TCGA:ENST00000324816) - p.Ala101Ser (cosmic curated:ENST00000324816) - c.301G>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV108026734 | 101 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155147G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155147G>A Locations: - p.Ala101Thr (cosmic curated:ENST00000375137) - c.301G>A (cosmic curated:ENST00000375137) - p.Ala101Thr (cosmic curated:ENST00000324816) - c.301G>A (cosmic curated:ENST00000324816) - p.Ala101Thr (cosmic curated:ENST00000375143) - c.301G>A (cosmic curated:ENST00000375143) - p.Ala101Thr (cosmic curated:ENST00000395523) - c.301G>A (cosmic curated:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs763168076 | 102 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000006.12:g.32155150C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155150C>G Locations: - p.Pro102Ala (Ensembl:ENST00000395523) - c.304C>G (Ensembl:ENST00000395523) - p.Pro102Ala (Ensembl:ENST00000375137) - c.304C>G (Ensembl:ENST00000375137) - p.Pro102Ala (Ensembl:ENST00000375143) - c.304C>G (Ensembl:ENST00000375143) - p.Pro102Ala (Ensembl:ENST00000324816) - c.304C>G (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs1403917626 | 102 | P>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32155151C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155151C>T Locations: - p.Pro102Leu (Ensembl:ENST00000375137) - c.305C>T (Ensembl:ENST00000375137) - p.Pro102Leu (Ensembl:ENST00000395523) - c.305C>T (Ensembl:ENST00000395523) - p.Pro102Leu (Ensembl:ENST00000324816) - c.305C>T (Ensembl:ENST00000324816) - p.Pro102Leu (Ensembl:ENST00000375143) - c.305C>T (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs764326565 | 106 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155164T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155164T>A Locations: - p.His106Gln (Ensembl:ENST00000375137) - c.318T>A (Ensembl:ENST00000375137) - p.His106Gln (Ensembl:ENST00000375143) - c.318T>A (Ensembl:ENST00000375143) - p.His106Gln (Ensembl:ENST00000395523) - c.318T>A (Ensembl:ENST00000395523) - p.His106Gln (Ensembl:ENST00000324816) - c.318T>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52997718 rs751977544 | 111 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000004058 (gnomAD) Accession: NC_000006.12:g.32155178C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155178C>T Locations: - p.S111L (NCI-TCGA:ENST00000395523) - p.S111L (NCI-TCGA:ENST00000375137) - p.S111L (NCI-TCGA:ENST00000324816) - p.S111L (NCI-TCGA:ENST00000375143) - p.Ser111Leu (Ensembl:ENST00000395523) - c.332C>T (Ensembl:ENST00000395523) - p.Ser111Leu (Ensembl:ENST00000324816) - c.332C>T (Ensembl:ENST00000324816) - p.Ser111Leu (Ensembl:ENST00000375143) - c.332C>T (Ensembl:ENST00000375143) - p.Ser111Leu (Ensembl:ENST00000375137) - c.332C>T (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs1161647062 | 112 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155180C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155180C>G Locations: - p.Gln112Glu (Ensembl:ENST00000324816) - c.334C>G (Ensembl:ENST00000324816) - p.Gln112Glu (Ensembl:ENST00000375143) - c.334C>G (Ensembl:ENST00000375143) - p.Gln112Glu (Ensembl:ENST00000375137) - c.334C>G (Ensembl:ENST00000375137) - p.Gln112Glu (Ensembl:ENST00000395523) - c.334C>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs763113280 | 116 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155696G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155696G>C Locations: - p.Val116Leu (Ensembl:ENST00000375137) - c.346G>C (Ensembl:ENST00000375137) - p.Val116Leu (Ensembl:ENST00000395523) - c.346G>C (Ensembl:ENST00000395523) - p.Val116Leu (Ensembl:ENST00000375143) - c.346G>C (Ensembl:ENST00000375143) - p.Val116Leu (Ensembl:ENST00000324816) - c.346G>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs763113280 | 116 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.32155696G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155696G>A Locations: - p.Val116Met (Ensembl:ENST00000324816) - c.346G>A (Ensembl:ENST00000324816) - p.Val116Met (Ensembl:ENST00000375143) - c.346G>A (Ensembl:ENST00000375143) - p.Val116Met (Ensembl:ENST00000375137) - c.346G>A (Ensembl:ENST00000375137) - p.Val116Met (Ensembl:ENST00000395523) - c.346G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52997723 rs1561814096 | 117 | C>Y | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155700G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155700G>A Locations: - p.Cys117Tyr (Ensembl:ENST00000375143) - c.350G>A (Ensembl:ENST00000375143) - p.Cys117Tyr (Ensembl:ENST00000395523) - c.350G>A (Ensembl:ENST00000395523) - p.Cys117Tyr (Ensembl:ENST00000375137) - c.350G>A (Ensembl:ENST00000375137) - p.Cys117Tyr (Ensembl:ENST00000324816) - c.350G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs757363390 | 118 | R>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.363) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155703G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155703G>C Locations: - p.Arg118Pro (Ensembl:ENST00000395523) - c.353G>C (Ensembl:ENST00000395523) - p.Arg118Pro (Ensembl:ENST00000375137) - c.353G>C (Ensembl:ENST00000375137) - p.Arg118Pro (Ensembl:ENST00000324816) - c.353G>C (Ensembl:ENST00000324816) - p.Arg118Pro (Ensembl:ENST00000375143) - c.353G>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs757363390 | 118 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155703G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155703G>A Locations: - p.Arg118Gln (Ensembl:ENST00000395523) - c.353G>A (Ensembl:ENST00000395523) - p.Arg118Gln (Ensembl:ENST00000375137) - c.353G>A (Ensembl:ENST00000375137) - p.Arg118Gln (Ensembl:ENST00000375143) - c.353G>A (Ensembl:ENST00000375143) - p.Arg118Gln (Ensembl:ENST00000324816) - c.353G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52998979 | 118 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155702C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155702C>T Locations: - p.R118W (NCI-TCGA:ENST00000324816) - p.Arg118Trp (cosmic curated:ENST00000324816) - c.352C>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs143821033 | 119 | A>T | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.218) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155705G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155705G>A Locations: - p.Ala119Thr (Ensembl:ENST00000375143) - c.355G>A (Ensembl:ENST00000375143) - p.Ala119Thr (Ensembl:ENST00000375137) - c.355G>A (Ensembl:ENST00000375137) - p.Ala119Thr (Ensembl:ENST00000395523) - c.355G>A (Ensembl:ENST00000395523) - p.Ala119Thr (Ensembl:ENST00000324816) - c.355G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1355927739 | 120 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155709T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155709T>G Locations: - p.Leu120Arg (Ensembl:ENST00000324816) - c.359T>G (Ensembl:ENST00000324816) - p.Leu120Arg (Ensembl:ENST00000395523) - c.359T>G (Ensembl:ENST00000395523) - p.Leu120Arg (Ensembl:ENST00000375143) - c.359T>G (Ensembl:ENST00000375143) - p.Leu120Arg (Ensembl:ENST00000375137) - c.359T>G (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
COSV52998496 rs1351482949 | 120 | L>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000006.12:g.32155708C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155708C>G Locations: - p.Leu120Val (Ensembl:ENST00000375137) - c.358C>G (Ensembl:ENST00000375137) - p.Leu120Val (Ensembl:ENST00000324816) - c.358C>G (Ensembl:ENST00000324816) - p.Leu120Val (Ensembl:ENST00000395523) - c.358C>G (Ensembl:ENST00000395523) - p.Leu120Val (Ensembl:ENST00000375143) - c.358C>G (Ensembl:ENST00000375143) Source type: large scale study | |||||||
COSV52999473 | 122 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155715C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155715C>T Locations: - p.Ser122Phe (cosmic curated:ENST00000395523) - c.365C>T (cosmic curated:ENST00000395523) - p.Ser122Phe (cosmic curated:ENST00000324816) - c.365C>T (cosmic curated:ENST00000324816) - p.Ser122Phe (cosmic curated:ENST00000375143) - c.365C>T (cosmic curated:ENST00000375143) - p.Ser122Phe (cosmic curated:ENST00000375137) - c.365C>T (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs762231614 | 123 | V>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.524) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155718T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155718T>A Locations: - p.Val123Asp (Ensembl:ENST00000375137) - c.368T>A (Ensembl:ENST00000375137) - p.Val123Asp (Ensembl:ENST00000324816) - c.368T>A (Ensembl:ENST00000324816) - p.Val123Asp (Ensembl:ENST00000395523) - c.368T>A (Ensembl:ENST00000395523) - p.Val123Asp (Ensembl:ENST00000375143) - c.368T>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs143092169 | 123 | V>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155717G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155717G>T Locations: - p.Val123Phe (Ensembl:ENST00000375137) - c.367G>T (Ensembl:ENST00000375137) - p.Val123Phe (Ensembl:ENST00000375143) - c.367G>T (Ensembl:ENST00000375143) - p.Val123Phe (Ensembl:ENST00000324816) - c.367G>T (Ensembl:ENST00000324816) - p.Val123Phe (Ensembl:ENST00000395523) - c.367G>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs143092169 | 123 | V>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.32155717G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155717G>A Locations: - p.Val123Ile (Ensembl:ENST00000324816) - c.367G>A (Ensembl:ENST00000324816) - p.Val123Ile (Ensembl:ENST00000395523) - c.367G>A (Ensembl:ENST00000395523) - p.Val123Ile (Ensembl:ENST00000375137) - c.367G>A (Ensembl:ENST00000375137) - p.Val123Ile (Ensembl:ENST00000375143) - c.367G>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1783749475 | 124 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.32155720A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155720A>G Locations: - p.Met124Val (Ensembl:ENST00000375137) - c.370A>G (Ensembl:ENST00000375137) - p.Met124Val (Ensembl:ENST00000395523) - c.370A>G (Ensembl:ENST00000395523) - p.Met124Val (Ensembl:ENST00000324816) - c.370A>G (Ensembl:ENST00000324816) - p.Met124Val (Ensembl:ENST00000375143) - c.370A>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1411790409 | 125 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.32155725T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155725T>G Locations: - p.Asp125Glu (Ensembl:ENST00000324816) - c.375T>G (Ensembl:ENST00000324816) - p.Asp125Glu (Ensembl:ENST00000375143) - c.375T>G (Ensembl:ENST00000375143) - p.Asp125Glu (Ensembl:ENST00000375137) - c.375T>G (Ensembl:ENST00000375137) - p.Asp125Glu (Ensembl:ENST00000395523) - c.375T>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs767828476 | 126 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000006.12:g.32155728T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155728T>A Locations: - p.Asp126Glu (Ensembl:ENST00000324816) - c.378T>A (Ensembl:ENST00000324816) - p.Asp126Glu (Ensembl:ENST00000375137) - c.378T>A (Ensembl:ENST00000375137) - p.Asp126Glu (Ensembl:ENST00000395523) - c.378T>A (Ensembl:ENST00000395523) - p.Asp126Glu (Ensembl:ENST00000375143) - c.378T>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1240137074 | 128 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32155734C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155734C>G Locations: - p.Asn128Lys (Ensembl:ENST00000375143) - c.384C>G (Ensembl:ENST00000375143) - p.Asn128Lys (Ensembl:ENST00000375137) - c.384C>G (Ensembl:ENST00000375137) - p.Asn128Lys (Ensembl:ENST00000395523) - c.384C>G (Ensembl:ENST00000395523) - p.Asn128Lys (Ensembl:ENST00000324816) - c.384C>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1378803103 | 128 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155733A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155733A>G Locations: - p.Asn128Ser (Ensembl:ENST00000395523) - c.383A>G (Ensembl:ENST00000395523) - p.Asn128Ser (Ensembl:ENST00000375137) - c.383A>G (Ensembl:ENST00000375137) - p.Asn128Ser (Ensembl:ENST00000375143) - c.383A>G (Ensembl:ENST00000375143) - p.Asn128Ser (Ensembl:ENST00000324816) - c.383A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783751305 | 129 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155735G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155735G>A Locations: - p.Val129Met (Ensembl:ENST00000324816) - c.385G>A (Ensembl:ENST00000324816) - p.Val129Met (Ensembl:ENST00000375143) - c.385G>A (Ensembl:ENST00000375143) - p.Val129Met (Ensembl:ENST00000375137) - c.385G>A (Ensembl:ENST00000375137) - p.Val129Met (Ensembl:ENST00000395523) - c.385G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52997983 | 131 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155742C>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155742C>A Locations: - p.S131Y (NCI-TCGA:ENST00000324816) - p.Ser131Tyr (cosmic curated:ENST00000324816) - c.392C>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs866294299 | 132 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000006.12:g.32155746C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155746C>A Locations: - p.Phe132Leu (Ensembl:ENST00000395523) - c.396C>A (Ensembl:ENST00000395523) - p.Phe132Leu (Ensembl:ENST00000375137) - c.396C>A (Ensembl:ENST00000375137) - p.Phe132Leu (Ensembl:ENST00000375143) - c.396C>A (Ensembl:ENST00000375143) - p.Phe132Leu (Ensembl:ENST00000324816) - c.396C>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV99278348 | 134 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000006.12:g.32155751C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155751C>T Locations: - p.S134F (NCI-TCGA:ENST00000324816) - p.Ser134Phe (cosmic curated:ENST00000324816) - c.401C>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs750902051 | 135 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155754T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155754T>G Locations: - p.Leu135Arg (Ensembl:ENST00000324816) - c.404T>G (Ensembl:ENST00000324816) - p.Leu135Arg (Ensembl:ENST00000375137) - c.404T>G (Ensembl:ENST00000375137) - p.Leu135Arg (Ensembl:ENST00000395523) - c.404T>G (Ensembl:ENST00000395523) - p.Leu135Arg (Ensembl:ENST00000375143) - c.404T>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
COSV52998880 | 136 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155757C>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155757C>G Locations: - c.407C>G (NCI-TCGA:ENST00000324816) - p.S136C (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52998880 | 136 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155757C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155757C>T Locations: - p.S136F (NCI-TCGA:ENST00000324816) - p.Ser136Phe (cosmic curated:ENST00000324816) - c.407C>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs756693747 | 139 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.32155765C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155765C>T Locations: - p.Gln139Ter (Ensembl:ENST00000375137) - c.415C>T (Ensembl:ENST00000375137) - p.Gln139Ter (Ensembl:ENST00000395523) - c.415C>T (Ensembl:ENST00000395523) - p.Gln139Ter (Ensembl:ENST00000324816) - c.415C>T (Ensembl:ENST00000324816) - p.Gln139Ter (Ensembl:ENST00000375143) - c.415C>T (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1783752783 | 140 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32155769T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155769T>C Locations: - p.Met140Thr (Ensembl:ENST00000375137) - c.419T>C (Ensembl:ENST00000375137) - p.Met140Thr (Ensembl:ENST00000324816) - c.419T>C (Ensembl:ENST00000324816) - p.Met140Thr (Ensembl:ENST00000395523) - c.419T>C (Ensembl:ENST00000395523) - p.Met140Thr (Ensembl:ENST00000375143) - c.419T>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
COSV52997399 rs1389953414 | 141 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155772G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155772G>A Locations: - p.G141E (NCI-TCGA:ENST00000395523) - p.G141E (NCI-TCGA:ENST00000375137) - p.G141E (NCI-TCGA:ENST00000324816) - p.G141E (NCI-TCGA:ENST00000375143) - p.Gly141Glu (Ensembl:ENST00000375137) - c.422G>A (Ensembl:ENST00000375137) - p.Gly141Glu (Ensembl:ENST00000324816) - c.422G>A (Ensembl:ENST00000324816) - p.Gly141Glu (Ensembl:ENST00000375143) - c.422G>A (Ensembl:ENST00000375143) - p.Gly141Glu (Ensembl:ENST00000395523) - c.422G>A (Ensembl:ENST00000395523) Source type: large scale study | |||||||
COSV99278697 rs957783092 | 143 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000006.12:g.32155778A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155778A>G Locations: - p.Y143C (NCI-TCGA:ENST00000395523) - p.Y143C (NCI-TCGA:ENST00000375137) - p.Y143C (NCI-TCGA:ENST00000324816) - p.Y143C (NCI-TCGA:ENST00000375143) - p.Tyr143Cys (Ensembl:ENST00000324816) - c.428A>G (Ensembl:ENST00000324816) - p.Tyr143Cys (Ensembl:ENST00000375143) - c.428A>G (Ensembl:ENST00000375143) - p.Tyr143Cys (Ensembl:ENST00000375137) - c.428A>G (Ensembl:ENST00000375137) - p.Tyr143Cys (Ensembl:ENST00000395523) - c.428A>G (Ensembl:ENST00000395523) Source type: large scale study | |||||||
COSV99278240 | 145 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.382) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000006.12:g.32155872C>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155872C>A Locations: - p.D145E (NCI-TCGA:ENST00000324816) - p.Asp145Glu (cosmic curated:ENST00000324816) - c.435C>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs375926799 | 145 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.211) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32155871A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155871A>G Locations: - p.Asp145Gly (Ensembl:ENST00000375137) - c.434A>G (Ensembl:ENST00000375137) - p.Asp145Gly (Ensembl:ENST00000375143) - c.434A>G (Ensembl:ENST00000375143) - p.Asp145Gly (Ensembl:ENST00000324816) - c.434A>G (Ensembl:ENST00000324816) - p.Asp145Gly (Ensembl:ENST00000395523) - c.434A>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52998314 rs749336768 | 146 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000006.12:g.32155874C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155874C>T Locations: - p.T146M (NCI-TCGA:ENST00000395523) - p.T146M (NCI-TCGA:ENST00000375137) - p.T146M (NCI-TCGA:ENST00000324816) - p.T146M (NCI-TCGA:ENST00000375143) - p.Thr146Met (Ensembl:ENST00000395523) - c.437C>T (Ensembl:ENST00000395523) - p.Thr146Met (Ensembl:ENST00000375137) - c.437C>T (Ensembl:ENST00000375137) - p.Thr146Met (Ensembl:ENST00000375143) - c.437C>T (Ensembl:ENST00000375143) - p.Thr146Met (Ensembl:ENST00000324816) - c.437C>T (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs774617515 | 147 | D>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32155877A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155877A>G Locations: - p.Asp147Gly (Ensembl:ENST00000375143) - c.440A>G (Ensembl:ENST00000375143) - p.Asp147Gly (Ensembl:ENST00000324816) - c.440A>G (Ensembl:ENST00000324816) - p.Asp147Gly (Ensembl:ENST00000395523) - c.440A>G (Ensembl:ENST00000395523) - p.Asp147Gly (Ensembl:ENST00000375137) - c.440A>G (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2127388696 | 148 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155880A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155880A>G Locations: - p.Y148C (NCI-TCGA:ENST00000395523) - p.Y148C (NCI-TCGA:ENST00000375137) - p.Y148C (NCI-TCGA:ENST00000324816) - p.Y148C (NCI-TCGA:ENST00000375143) - p.Tyr148Cys (Ensembl:ENST00000375137) - c.443A>G (Ensembl:ENST00000375137) - p.Tyr148Cys (Ensembl:ENST00000395523) - c.443A>G (Ensembl:ENST00000395523) - p.Tyr148Cys (Ensembl:ENST00000375143) - c.443A>G (Ensembl:ENST00000375143) - p.Tyr148Cys (Ensembl:ENST00000324816) - c.443A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs761954503 | 150 | K>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155886A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155886A>T Locations: - p.Lys150Met (Ensembl:ENST00000375143) - c.449A>T (Ensembl:ENST00000375143) - p.Lys150Met (Ensembl:ENST00000375137) - c.449A>T (Ensembl:ENST00000375137) - p.Lys150Met (Ensembl:ENST00000395523) - c.449A>T (Ensembl:ENST00000395523) - p.Lys150Met (Ensembl:ENST00000324816) - c.449A>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52999894 | 152 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155892T>C Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155892T>C Locations: - p.L152P (NCI-TCGA:ENST00000324816) - p.Leu152Pro (cosmic curated:ENST00000324816) - c.455T>C (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs773739394 | 153 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.367) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.32155896C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155896C>G Locations: - p.Phe153Leu (Ensembl:ENST00000324816) - c.459C>G (Ensembl:ENST00000324816) - p.Phe153Leu (Ensembl:ENST00000375137) - c.459C>G (Ensembl:ENST00000375137) - p.Phe153Leu (Ensembl:ENST00000395523) - c.459C>G (Ensembl:ENST00000395523) - p.Phe153Leu (Ensembl:ENST00000375143) - c.459C>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs767855846 | 153 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155894T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155894T>G Locations: - p.Phe153Val (Ensembl:ENST00000324816) - c.457T>G (Ensembl:ENST00000324816) - p.Phe153Val (Ensembl:ENST00000395523) - c.457T>G (Ensembl:ENST00000395523) - p.Phe153Val (Ensembl:ENST00000375137) - c.457T>G (Ensembl:ENST00000375137) - p.Phe153Val (Ensembl:ENST00000375143) - c.457T>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1683926193 | 154 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155898C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155898C>T Locations: - p.P154L (NCI-TCGA:ENST00000395523) - p.P154L (NCI-TCGA:ENST00000375137) - p.P154L (NCI-TCGA:ENST00000324816) - p.P154L (NCI-TCGA:ENST00000375143) - p.Pro154Leu (Ensembl:ENST00000375137) - c.461C>T (Ensembl:ENST00000375137) - p.Pro154Leu (Ensembl:ENST00000395523) - c.461C>T (Ensembl:ENST00000395523) - p.Pro154Leu (Ensembl:ENST00000324816) - c.461C>T (Ensembl:ENST00000324816) - p.Pro154Leu (Ensembl:ENST00000375143) - c.461C>T (Ensembl:ENST00000375143) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1238886923 | 155 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000006.12:g.32155901C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155901C>T Locations: - p.Thr155Ile (Ensembl:ENST00000375137) - c.464C>T (Ensembl:ENST00000375137) - p.Thr155Ile (Ensembl:ENST00000375143) - c.464C>T (Ensembl:ENST00000375143) - p.Thr155Ile (Ensembl:ENST00000324816) - c.464C>T (Ensembl:ENST00000324816) - p.Thr155Ile (Ensembl:ENST00000395523) - c.464C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
TCGA novel | 155 | T>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000006.12:g.32155896del Consequence type: frameshift Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155896del Locations: - c.462del (NCI-TCGA:ENST00000324816) - p.T155Pfs*43 (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52997482 rs761211332 | 155 | T>P | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000006.12:g.32155900A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155900A>C Locations: - p.Thr155Pro (Ensembl:ENST00000375143) - c.463A>C (Ensembl:ENST00000375143) - p.Thr155Pro (Ensembl:ENST00000375137) - c.463A>C (Ensembl:ENST00000375137) - p.Thr155Pro (Ensembl:ENST00000324816) - c.463A>C (Ensembl:ENST00000324816) - p.Thr155Pro (Ensembl:ENST00000395523) - c.463A>C (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs1238886923 | 155 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000006.12:g.32155901C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155901C>G Locations: - p.Thr155Ser (Ensembl:ENST00000375143) - c.464C>G (Ensembl:ENST00000375143) - p.Thr155Ser (Ensembl:ENST00000324816) - c.464C>G (Ensembl:ENST00000324816) - p.Thr155Ser (Ensembl:ENST00000375137) - c.464C>G (Ensembl:ENST00000375137) - p.Thr155Ser (Ensembl:ENST00000395523) - c.464C>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52999483 | 156 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000006.12:g.32155904C>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155904C>A Locations: - p.S156Y (NCI-TCGA:ENST00000324816) - p.Ser156Tyr (cosmic curated:ENST00000324816) - c.467C>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs766967673 | 158 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155909C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155909C>G Locations: - p.Arg158Gly (Ensembl:ENST00000375143) - c.472C>G (Ensembl:ENST00000375143) - p.Arg158Gly (Ensembl:ENST00000395523) - c.472C>G (Ensembl:ENST00000395523) - p.Arg158Gly (Ensembl:ENST00000324816) - c.472C>G (Ensembl:ENST00000324816) - p.Arg158Gly (Ensembl:ENST00000375137) - c.472C>G (Ensembl:ENST00000375137) Source type: large scale study | |||||||
COSV104535032 rs754501053 | 158 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32155910G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155910G>A Locations: - p.Arg158Gln (Ensembl:ENST00000395523) - c.473G>A (Ensembl:ENST00000395523) - p.Arg158Gln (Ensembl:ENST00000324816) - c.473G>A (Ensembl:ENST00000324816) - p.Arg158Gln (Ensembl:ENST00000375143) - c.473G>A (Ensembl:ENST00000375143) - p.Arg158Gln (Ensembl:ENST00000375137) - c.473G>A (Ensembl:ENST00000375137) Source type: large scale study | |||||||
rs766967673 | 158 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00003183 (gnomAD) Accession: NC_000006.12:g.32155909C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155909C>T Locations: - p.R158W (NCI-TCGA:ENST00000395523) - p.R158W (NCI-TCGA:ENST00000375137) - p.R158W (NCI-TCGA:ENST00000324816) - p.R158W (NCI-TCGA:ENST00000375143) - p.Arg158Trp (Ensembl:ENST00000375137) - c.472C>T (Ensembl:ENST00000375137) - p.Arg158Trp (Ensembl:ENST00000324816) - c.472C>T (Ensembl:ENST00000324816) - p.Arg158Trp (Ensembl:ENST00000375143) - c.472C>T (Ensembl:ENST00000375143) - p.Arg158Trp (Ensembl:ENST00000395523) - c.472C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1248496149 | 159 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32155912T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155912T>C Locations: - p.Ser159Pro (Ensembl:ENST00000395523) - c.475T>C (Ensembl:ENST00000395523) - p.Ser159Pro (Ensembl:ENST00000375143) - c.475T>C (Ensembl:ENST00000375143) - p.Ser159Pro (Ensembl:ENST00000324816) - c.475T>C (Ensembl:ENST00000324816) - p.Ser159Pro (Ensembl:ENST00000375137) - c.475T>C (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs1783768192 | 160 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.32155916A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155916A>T Locations: - p.Asn160Ile (Ensembl:ENST00000324816) - c.479A>T (Ensembl:ENST00000324816) - p.Asn160Ile (Ensembl:ENST00000375143) - c.479A>T (Ensembl:ENST00000375143) - p.Asn160Ile (Ensembl:ENST00000375137) - c.479A>T (Ensembl:ENST00000375137) - p.Asn160Ile (Ensembl:ENST00000395523) - c.479A>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1246097359 | 161 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155918C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155918C>T Locations: - p.Leu161Phe (Ensembl:ENST00000395523) - c.481C>T (Ensembl:ENST00000395523) - p.Leu161Phe (Ensembl:ENST00000375137) - c.481C>T (Ensembl:ENST00000375137) - p.Leu161Phe (Ensembl:ENST00000375143) - c.481C>T (Ensembl:ENST00000375143) - p.Leu161Phe (Ensembl:ENST00000324816) - c.481C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783769342 | 161 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155919T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155919T>A Locations: - p.Leu161His (Ensembl:ENST00000395523) - c.482T>A (Ensembl:ENST00000395523) - p.Leu161His (Ensembl:ENST00000375137) - c.482T>A (Ensembl:ENST00000375137) - p.Leu161His (Ensembl:ENST00000375143) - c.482T>A (Ensembl:ENST00000375143) - p.Leu161His (Ensembl:ENST00000324816) - c.482T>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs758022403 | 163 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.577) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.32155925G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155925G>A Locations: - p.Arg163Gln (Ensembl:ENST00000375143) - c.488G>A (Ensembl:ENST00000375143) - p.Arg163Gln (Ensembl:ENST00000324816) - c.488G>A (Ensembl:ENST00000324816) - p.Arg163Gln (Ensembl:ENST00000395523) - c.488G>A (Ensembl:ENST00000395523) - p.Arg163Gln (Ensembl:ENST00000375137) - c.488G>A (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs752330755 | 163 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32155924C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155924C>T Locations: - p.Arg163Trp (Ensembl:ENST00000375143) - c.487C>T (Ensembl:ENST00000375143) - p.Arg163Trp (Ensembl:ENST00000324816) - c.487C>T (Ensembl:ENST00000324816) - p.Arg163Trp (Ensembl:ENST00000375137) - c.487C>T (Ensembl:ENST00000375137) - p.Arg163Trp (Ensembl:ENST00000395523) - c.487C>T (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs777494940 | 166 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155934A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155934A>G Locations: - p.Tyr166Cys (Ensembl:ENST00000395523) - c.497A>G (Ensembl:ENST00000395523) - p.Tyr166Cys (Ensembl:ENST00000375143) - c.497A>G (Ensembl:ENST00000375143) - p.Tyr166Cys (Ensembl:ENST00000375137) - c.497A>G (Ensembl:ENST00000375137) - p.Tyr166Cys (Ensembl:ENST00000324816) - c.497A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs79615219 | 166 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155933T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155933T>C Locations: - p.Tyr166His (Ensembl:ENST00000375143) - c.496T>C (Ensembl:ENST00000375143) - p.Tyr166His (Ensembl:ENST00000375137) - c.496T>C (Ensembl:ENST00000375137) - p.Tyr166His (Ensembl:ENST00000395523) - c.496T>C (Ensembl:ENST00000395523) - p.Tyr166His (Ensembl:ENST00000324816) - c.496T>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs563152656 | 167 | S>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32155936A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155936A>G Locations: - p.Ser167Gly (Ensembl:ENST00000395523) - c.499A>G (Ensembl:ENST00000395523) - p.Ser167Gly (Ensembl:ENST00000375137) - c.499A>G (Ensembl:ENST00000375137) - p.Ser167Gly (Ensembl:ENST00000324816) - c.499A>G (Ensembl:ENST00000324816) - p.Ser167Gly (Ensembl:ENST00000375143) - c.499A>G (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs781104564 | 167 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000006.12:g.32155937G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155937G>A Locations: - p.Ser167Asn (Ensembl:ENST00000375143) - c.500G>A (Ensembl:ENST00000375143) - p.Ser167Asn (Ensembl:ENST00000395523) - c.500G>A (Ensembl:ENST00000395523) - p.Ser167Asn (Ensembl:ENST00000375137) - c.500G>A (Ensembl:ENST00000375137) - p.Ser167Asn (Ensembl:ENST00000324816) - c.500G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV52999826 | 168 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000006.12:g.32155940C>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155940C>A Locations: - p.P168H (NCI-TCGA:ENST00000324816) - p.Pro168His (cosmic curated:ENST00000324816) - c.503C>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
TCGA novel | 168 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000006.12:g.32155939C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155939C>T Locations: - c.502C>T (NCI-TCGA:ENST00000324816) - p.P168S (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1783773561 | 170 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155946G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155946G>A Locations: - p.Gly170Asp (Ensembl:ENST00000324816) - c.509G>A (Ensembl:ENST00000324816) - p.Gly170Asp (Ensembl:ENST00000375143) - c.509G>A (Ensembl:ENST00000375143) - p.Gly170Asp (Ensembl:ENST00000375137) - c.509G>A (Ensembl:ENST00000375137) - p.Gly170Asp (Ensembl:ENST00000395523) - c.509G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52997523 | 171 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155950G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155950G>T Locations: - p.Gln171His (cosmic curated:ENST00000324816) - c.513G>T (cosmic curated:ENST00000324816) - p.Gln171His (cosmic curated:ENST00000395523) - c.513G>T (cosmic curated:ENST00000395523) - p.Gln171His (cosmic curated:ENST00000375137) - c.513G>T (cosmic curated:ENST00000375137) - p.Gln171His (cosmic curated:ENST00000375143) - c.513G>T (cosmic curated:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1367906105 | 171 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32155949A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155949A>G Locations: - p.Gln171Arg (Ensembl:ENST00000324816) - c.512A>G (Ensembl:ENST00000324816) - p.Gln171Arg (Ensembl:ENST00000375143) - c.512A>G (Ensembl:ENST00000375143) - p.Gln171Arg (Ensembl:ENST00000395523) - c.512A>G (Ensembl:ENST00000395523) - p.Gln171Arg (Ensembl:ENST00000375137) - c.512A>G (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs745849337 | 172 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.32155951G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155951G>A Locations: - p.Glu172Lys (Ensembl:ENST00000324816) - c.514G>A (Ensembl:ENST00000324816) - p.Glu172Lys (Ensembl:ENST00000375143) - c.514G>A (Ensembl:ENST00000375143) - p.Glu172Lys (Ensembl:ENST00000375137) - c.514G>A (Ensembl:ENST00000375137) - p.Glu172Lys (Ensembl:ENST00000395523) - c.514G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1783774590 | 175 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000006.12:g.32155960A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155960A>G Locations: - p.Ile175Val (Ensembl:ENST00000324816) - c.523A>G (Ensembl:ENST00000324816) - p.Ile175Val (Ensembl:ENST00000375143) - c.523A>G (Ensembl:ENST00000375143) - p.Ile175Val (Ensembl:ENST00000395523) - c.523A>G (Ensembl:ENST00000395523) - p.Ile175Val (Ensembl:ENST00000375137) - c.523A>G (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
COSV52999680 | 177 | N>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155967A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155967A>C Locations: - p.Asn177Thr (cosmic curated:ENST00000375143) - c.530A>C (cosmic curated:ENST00000375143) - p.Asn177Thr (cosmic curated:ENST00000324816) - c.530A>C (cosmic curated:ENST00000324816) - p.Asn177Thr (cosmic curated:ENST00000375137) - c.530A>C (cosmic curated:ENST00000375137) - p.Asn177Thr (cosmic curated:ENST00000395523) - c.530A>C (cosmic curated:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV52997822 | 178 | Y>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32155969T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32155969T>C Locations: - p.Tyr178His (cosmic curated:ENST00000375143) - c.532T>C (cosmic curated:ENST00000375143) - p.Tyr178His (cosmic curated:ENST00000395523) - c.532T>C (cosmic curated:ENST00000395523) - p.Tyr178His (cosmic curated:ENST00000375137) - c.532T>C (cosmic curated:ENST00000375137) - p.Tyr178His (cosmic curated:ENST00000324816) - c.532T>C (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1366252908 | 180 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.32155976A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155976A>G Locations: - p.His180Arg (Ensembl:ENST00000395523) - c.539A>G (Ensembl:ENST00000395523) - p.His180Arg (Ensembl:ENST00000375137) - c.539A>G (Ensembl:ENST00000375137) - p.His180Arg (Ensembl:ENST00000375143) - c.539A>G (Ensembl:ENST00000375143) - p.His180Arg (Ensembl:ENST00000324816) - c.539A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs768722360 | 180 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.547) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32155975C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32155975C>T Locations: - p.His180Tyr (Ensembl:ENST00000395523) - c.538C>T (Ensembl:ENST00000395523) - p.His180Tyr (Ensembl:ENST00000375137) - c.538C>T (Ensembl:ENST00000375137) - p.His180Tyr (Ensembl:ENST00000375143) - c.538C>T (Ensembl:ENST00000375143) - p.His180Tyr (Ensembl:ENST00000324816) - c.538C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
TCGA novel | 182 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157640C>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157640C>A Locations: - c.545C>A (NCI-TCGA:ENST00000324816) - p.P182H (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1323452003 | 183 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.32157642C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157642C>T Locations: - p.His183Tyr (Ensembl:ENST00000375143) - c.547C>T (Ensembl:ENST00000375143) - p.His183Tyr (Ensembl:ENST00000375137) - c.547C>T (Ensembl:ENST00000375137) - p.His183Tyr (Ensembl:ENST00000395523) - c.547C>T (Ensembl:ENST00000395523) - p.His183Tyr (Ensembl:ENST00000324816) - c.547C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs752170776 | 185 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32157648G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157648G>A Locations: - p.Asp185Asn (Ensembl:ENST00000395523) - c.553G>A (Ensembl:ENST00000395523) - p.Asp185Asn (Ensembl:ENST00000324816) - c.553G>A (Ensembl:ENST00000324816) - p.Asp185Asn (Ensembl:ENST00000375143) - c.553G>A (Ensembl:ENST00000375143) - p.Asp185Asn (Ensembl:ENST00000375137) - c.553G>A (Ensembl:ENST00000375137) Source type: large scale study | |||||||
rs1276119175 | 187 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000006.12:g.32157655T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157655T>C Locations: - p.Leu187Ser (Ensembl:ENST00000324816) - c.560T>C (Ensembl:ENST00000324816) - p.Leu187Ser (Ensembl:ENST00000375137) - c.560T>C (Ensembl:ENST00000375137) - p.Leu187Ser (Ensembl:ENST00000395523) - c.560T>C (Ensembl:ENST00000395523) - p.Leu187Ser (Ensembl:ENST00000375143) - c.560T>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1227434581 | 190 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.32157664A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157664A>G Locations: - p.Asn190Ser (Ensembl:ENST00000375137) - c.569A>G (Ensembl:ENST00000375137) - p.Asn190Ser (Ensembl:ENST00000375143) - c.569A>G (Ensembl:ENST00000375143) - p.Asn190Ser (Ensembl:ENST00000395523) - c.569A>G (Ensembl:ENST00000395523) - p.Asn190Ser (Ensembl:ENST00000324816) - c.569A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV61354174 | 192 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000006.12:g.32157670G>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157670G>A Locations: - p.S192N (NCI-TCGA:ENST00000324816) - p.Ser192Asn (cosmic curated:ENST00000324816) - c.575G>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783884789 | 193 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000006.12:g.32157673G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157673G>A Locations: - p.Ser193Asn (Ensembl:ENST00000395523) - c.578G>A (Ensembl:ENST00000395523) - p.Ser193Asn (Ensembl:ENST00000375137) - c.578G>A (Ensembl:ENST00000375137) - p.Ser193Asn (Ensembl:ENST00000375143) - c.578G>A (Ensembl:ENST00000375143) - p.Ser193Asn (Ensembl:ENST00000324816) - c.578G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs56024180 | 197 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.355) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.32157685T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157685T>C Locations: - p.Leu197Pro (Ensembl:ENST00000395523) - c.590T>C (Ensembl:ENST00000395523) - p.Leu197Pro (Ensembl:ENST00000324816) - c.590T>C (Ensembl:ENST00000324816) - p.Leu197Pro (Ensembl:ENST00000375143) - c.590T>C (Ensembl:ENST00000375143) - p.Leu197Pro (Ensembl:ENST00000375137) - c.590T>C (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs751281513 | 198 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32157687A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157687A>G Locations: - p.Ile198Val (Ensembl:ENST00000324816) - c.592A>G (Ensembl:ENST00000324816) - p.Ile198Val (Ensembl:ENST00000375137) - c.592A>G (Ensembl:ENST00000375137) - p.Ile198Val (Ensembl:ENST00000395523) - c.592A>G (Ensembl:ENST00000395523) - p.Ile198Val (Ensembl:ENST00000375143) - c.592A>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs780977621 | 199 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157691A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157691A>G Locations: - p.Asn199Ser (Ensembl:ENST00000324816) - c.596A>G (Ensembl:ENST00000324816) - p.Asn199Ser (Ensembl:ENST00000375137) - c.596A>G (Ensembl:ENST00000375137) - p.Asn199Ser (Ensembl:ENST00000395523) - c.596A>G (Ensembl:ENST00000395523) - p.Asn199Ser (Ensembl:ENST00000375143) - c.596A>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
COSV61354446 | 200 | G>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32157694G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32157694G>C Locations: - p.Gly200Ala (cosmic curated:ENST00000324816) - c.599G>C (cosmic curated:ENST00000324816) - p.Gly200Ala (cosmic curated:ENST00000375137) - c.599G>C (cosmic curated:ENST00000375137) - p.Gly200Ala (cosmic curated:ENST00000375143) - c.599G>C (cosmic curated:ENST00000375143) - p.Gly200Ala (cosmic curated:ENST00000395523) - c.599G>C (cosmic curated:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV61353921 | 200 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32157693G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32157693G>A Locations: - p.Gly200Arg (cosmic curated:ENST00000324816) - c.598G>A (cosmic curated:ENST00000324816) - p.Gly200Arg (cosmic curated:ENST00000395523) - c.598G>A (cosmic curated:ENST00000395523) - p.Gly200Arg (cosmic curated:ENST00000375143) - c.598G>A (cosmic curated:ENST00000375143) - p.Gly200Arg (cosmic curated:ENST00000375137) - c.598G>A (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
COSV61354935 rs942276521 | 204 | H>Y | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000006.12:g.32157705C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157705C>T Locations: - p.His204Tyr (Ensembl:ENST00000395523) - c.610C>T (Ensembl:ENST00000395523) - p.His204Tyr (Ensembl:ENST00000375137) - c.610C>T (Ensembl:ENST00000375137) - p.His204Tyr (Ensembl:ENST00000375143) - c.610C>T (Ensembl:ENST00000375143) - p.His204Tyr (Ensembl:ENST00000324816) - c.610C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV61355337 | 205 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000006.12:g.32157709C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157709C>T Locations: - p.P205L (NCI-TCGA:ENST00000324816) - p.Pro205Leu (cosmic curated:ENST00000324816) - c.614C>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1419183934 | 207 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.32157715C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157715C>G Locations: - p.Ala207Gly (Ensembl:ENST00000395523) - c.620C>G (Ensembl:ENST00000395523) - p.Ala207Gly (Ensembl:ENST00000375143) - c.620C>G (Ensembl:ENST00000375143) - p.Ala207Gly (Ensembl:ENST00000375137) - c.620C>G (Ensembl:ENST00000375137) - p.Ala207Gly (Ensembl:ENST00000324816) - c.620C>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783886950 | 207 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000006.12:g.32157714G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157714G>T Locations: - p.Ala207Ser (Ensembl:ENST00000324816) - c.619G>T (Ensembl:ENST00000324816) - p.Ala207Ser (Ensembl:ENST00000395523) - c.619G>T (Ensembl:ENST00000395523) - p.Ala207Ser (Ensembl:ENST00000375137) - c.619G>T (Ensembl:ENST00000375137) - p.Ala207Ser (Ensembl:ENST00000375143) - c.619G>T (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs555930616 | 209 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000006.12:g.32157720G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157720G>A Locations: - p.Val209Ile (Ensembl:ENST00000395523) - c.625G>A (Ensembl:ENST00000395523) - p.Val209Ile (Ensembl:ENST00000375137) - c.625G>A (Ensembl:ENST00000375137) - p.Val209Ile (Ensembl:ENST00000324816) - c.625G>A (Ensembl:ENST00000324816) - p.Val209Ile (Ensembl:ENST00000375143) - c.625G>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1254242116 | 210 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.32157844G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157844G>A Locations: - p.Trp210Ter (Ensembl:ENST00000375137) - c.630G>A (Ensembl:ENST00000375137) - p.Trp210Ter (Ensembl:ENST00000395523) - c.630G>A (Ensembl:ENST00000395523) - p.Trp210Ter (Ensembl:ENST00000324816) - c.630G>A (Ensembl:ENST00000324816) - p.Trp210Ter (Ensembl:ENST00000375143) - c.630G>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
COSV100246921 rs1021465267 | 211 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000004064 (gnomAD) Accession: NC_000006.12:g.32157846G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157846G>A Locations: - p.R211Q (NCI-TCGA:ENST00000395523) - p.R211Q (NCI-TCGA:ENST00000375137) - p.R211Q (NCI-TCGA:ENST00000324816) - p.R211Q (NCI-TCGA:ENST00000375143) - p.Arg211Gln (Ensembl:ENST00000395523) - c.632G>A (Ensembl:ENST00000395523) - p.Arg211Gln (Ensembl:ENST00000375137) - c.632G>A (Ensembl:ENST00000375137) - p.Arg211Gln (Ensembl:ENST00000375143) - c.632G>A (Ensembl:ENST00000375143) - p.Arg211Gln (Ensembl:ENST00000324816) - c.632G>A (Ensembl:ENST00000324816) Source type: large scale study | |||||||
COSV61354914 rs770180084 | 211 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32157845C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157845C>T Locations: - p.Arg211Trp (Ensembl:ENST00000375137) - c.631C>T (Ensembl:ENST00000375137) - p.Arg211Trp (Ensembl:ENST00000395523) - c.631C>T (Ensembl:ENST00000395523) - p.Arg211Trp (Ensembl:ENST00000375143) - c.631C>T (Ensembl:ENST00000375143) - p.Arg211Trp (Ensembl:ENST00000324816) - c.631C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV61355073 | 212 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000006.12:g.32157850G>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157850G>T Locations: - p.K212N (NCI-TCGA:ENST00000324816) - p.Lys212Asn (cosmic curated:ENST00000324816) - c.636G>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs890076043 | 213 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32157852A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157852A>G Locations: - p.Asn213Ser (Ensembl:ENST00000324816) - c.638A>G (Ensembl:ENST00000324816) - p.Asn213Ser (Ensembl:ENST00000395523) - c.638A>G (Ensembl:ENST00000395523) - p.Asn213Ser (Ensembl:ENST00000375137) - c.638A>G (Ensembl:ENST00000375137) - p.Asn213Ser (Ensembl:ENST00000375143) - c.638A>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
COSV61353989 | 215 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32157857C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32157857C>A Locations: - p.Leu215Met (cosmic curated:ENST00000375143) - c.643C>A (cosmic curated:ENST00000375143) - p.Leu215Met (cosmic curated:ENST00000324816) - c.643C>A (cosmic curated:ENST00000324816) - p.Leu215Met (cosmic curated:ENST00000395523) - c.643C>A (cosmic curated:ENST00000395523) - p.Leu215Met (cosmic curated:ENST00000375137) - c.643C>A (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs367909223 | 216 | R>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157860C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157860C>T Locations: - p.Arg216Cys (Ensembl:ENST00000375143) - c.646C>T (Ensembl:ENST00000375143) - p.Arg216Cys (Ensembl:ENST00000375137) - c.646C>T (Ensembl:ENST00000375137) - p.Arg216Cys (Ensembl:ENST00000395523) - c.646C>T (Ensembl:ENST00000395523) - p.Arg216Cys (Ensembl:ENST00000324816) - c.646C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV61353817 rs776105874 | 216 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.00002031 (gnomAD) Accession: NC_000006.12:g.32157861G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157861G>A Locations: - p.R216H (NCI-TCGA:ENST00000395523) - p.R216H (NCI-TCGA:ENST00000375137) - p.R216H (NCI-TCGA:ENST00000324816) - p.R216H (NCI-TCGA:ENST00000375143) - p.Arg216His (Ensembl:ENST00000395523) - c.647G>A (Ensembl:ENST00000395523) - p.Arg216His (Ensembl:ENST00000324816) - c.647G>A (Ensembl:ENST00000324816) - p.Arg216His (Ensembl:ENST00000375143) - c.647G>A (Ensembl:ENST00000375143) - p.Arg216His (Ensembl:ENST00000375137) - c.647G>A (Ensembl:ENST00000375137) Source type: large scale study | |||||||
rs776105874 | 216 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157861G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157861G>C Locations: - p.Arg216Pro (Ensembl:ENST00000324816) - c.647G>C (Ensembl:ENST00000324816) - p.Arg216Pro (Ensembl:ENST00000375143) - c.647G>C (Ensembl:ENST00000375143) - p.Arg216Pro (Ensembl:ENST00000375137) - c.647G>C (Ensembl:ENST00000375137) - p.Arg216Pro (Ensembl:ENST00000395523) - c.647G>C (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs968548331 | 217 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000006.12:g.32157863G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157863G>T Locations: - p.Val217Leu (Ensembl:ENST00000324816) - c.649G>T (Ensembl:ENST00000324816) - p.Val217Leu (Ensembl:ENST00000375137) - c.649G>T (Ensembl:ENST00000375137) - p.Val217Leu (Ensembl:ENST00000395523) - c.649G>T (Ensembl:ENST00000395523) - p.Val217Leu (Ensembl:ENST00000375143) - c.649G>T (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs762446904 | 218 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000006.12:g.32157866G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157866G>C Locations: - p.Gly218Arg (Ensembl:ENST00000375137) - c.652G>C (Ensembl:ENST00000375137) - p.Gly218Arg (Ensembl:ENST00000395523) - c.652G>C (Ensembl:ENST00000395523) - p.Gly218Arg (Ensembl:ENST00000324816) - c.652G>C (Ensembl:ENST00000324816) - p.Gly218Arg (Ensembl:ENST00000375143) - c.652G>C (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs762446904 | 218 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.32157866G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157866G>A Locations: - p.Gly218Ser (Ensembl:ENST00000375137) - c.652G>A (Ensembl:ENST00000375137) - p.Gly218Ser (Ensembl:ENST00000395523) - c.652G>A (Ensembl:ENST00000395523) - p.Gly218Ser (Ensembl:ENST00000375143) - c.652G>A (Ensembl:ENST00000375143) - p.Gly218Ser (Ensembl:ENST00000324816) - c.652G>A (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs1428529048 | 219 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000006.12:g.32157870A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157870A>G Locations: - p.His219Arg (Ensembl:ENST00000375137) - c.656A>G (Ensembl:ENST00000375137) - p.His219Arg (Ensembl:ENST00000375143) - c.656A>G (Ensembl:ENST00000375143) - p.His219Arg (Ensembl:ENST00000324816) - c.656A>G (Ensembl:ENST00000324816) - p.His219Arg (Ensembl:ENST00000395523) - c.656A>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1398110703 | 221 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157875G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157875G>C Locations: - p.Val221Leu (Ensembl:ENST00000375137) - c.661G>C (Ensembl:ENST00000375137) - p.Val221Leu (Ensembl:ENST00000395523) - c.661G>C (Ensembl:ENST00000395523) - p.Val221Leu (Ensembl:ENST00000324816) - c.661G>C (Ensembl:ENST00000324816) - p.Val221Leu (Ensembl:ENST00000375143) - c.661G>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1398110703 | 221 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32157875G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157875G>A Locations: - p.Val221Met (Ensembl:ENST00000324816) - c.661G>A (Ensembl:ENST00000324816) - p.Val221Met (Ensembl:ENST00000395523) - c.661G>A (Ensembl:ENST00000395523) - p.Val221Met (Ensembl:ENST00000375143) - c.661G>A (Ensembl:ENST00000375143) - p.Val221Met (Ensembl:ENST00000375137) - c.661G>A (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs750208098 | 223 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157882T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157882T>C Locations: - p.Ile223Thr (Ensembl:ENST00000324816) - c.668T>C (Ensembl:ENST00000324816) - p.Ile223Thr (Ensembl:ENST00000375143) - c.668T>C (Ensembl:ENST00000375143) - p.Ile223Thr (Ensembl:ENST00000375137) - c.668T>C (Ensembl:ENST00000375137) - p.Ile223Thr (Ensembl:ENST00000395523) - c.668T>C (Ensembl:ENST00000395523) Source type: large scale study | |||||||
rs1783902445 | 227 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32157893G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157893G>A Locations: - p.Asp227Asn (Ensembl:ENST00000375137) - c.679G>A (Ensembl:ENST00000375137) - p.Asp227Asn (Ensembl:ENST00000324816) - c.679G>A (Ensembl:ENST00000324816) - p.Asp227Asn (Ensembl:ENST00000395523) - c.679G>A (Ensembl:ENST00000395523) - p.Asp227Asn (Ensembl:ENST00000375143) - c.679G>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1440856440 | 228 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157897A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157897A>G Locations: - p.Asp228Gly (Ensembl:ENST00000395523) - c.683A>G (Ensembl:ENST00000395523) - p.Asp228Gly (Ensembl:ENST00000375137) - c.683A>G (Ensembl:ENST00000375137) - p.Asp228Gly (Ensembl:ENST00000324816) - c.683A>G (Ensembl:ENST00000324816) - p.Asp228Gly (Ensembl:ENST00000375143) - c.683A>G (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
COSV61354541 | 230 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32157903T>C Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157903T>C Locations: - p.V230A (NCI-TCGA:ENST00000324816) - p.Val230Ala (cosmic curated:ENST00000324816) - c.689T>C (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1783903559 | 230 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157902G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157902G>T Locations: - p.Val230Phe (Ensembl:ENST00000395523) - c.688G>T (Ensembl:ENST00000395523) - p.Val230Phe (Ensembl:ENST00000375137) - c.688G>T (Ensembl:ENST00000375137) - p.Val230Phe (Ensembl:ENST00000375143) - c.688G>T (Ensembl:ENST00000375143) - p.Val230Phe (Ensembl:ENST00000324816) - c.688G>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1295298058 | 231 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157905A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157905A>T Locations: - p.Ile231Phe (Ensembl:ENST00000324816) - c.691A>T (Ensembl:ENST00000324816) - p.Ile231Phe (Ensembl:ENST00000375143) - c.691A>T (Ensembl:ENST00000375143) - p.Ile231Phe (Ensembl:ENST00000375137) - c.691A>T (Ensembl:ENST00000375137) - p.Ile231Phe (Ensembl:ENST00000395523) - c.691A>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1341455536 | 232 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32157909C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157909C>T Locations: - p.Thr232Ile (Ensembl:ENST00000395523) - c.695C>T (Ensembl:ENST00000395523) - p.Thr232Ile (Ensembl:ENST00000375137) - c.695C>T (Ensembl:ENST00000375137) - p.Thr232Ile (Ensembl:ENST00000375143) - c.695C>T (Ensembl:ENST00000375143) - p.Thr232Ile (Ensembl:ENST00000324816) - c.695C>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs556550910 | 235 | Q>E | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000006.12:g.32157917C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157917C>G Locations: - p.Gln235Glu (Ensembl:ENST00000324816) - c.703C>G (Ensembl:ENST00000324816) - p.Gln235Glu (Ensembl:ENST00000375143) - c.703C>G (Ensembl:ENST00000375143) - p.Gln235Glu (Ensembl:ENST00000375137) - c.703C>G (Ensembl:ENST00000375137) - p.Gln235Glu (Ensembl:ENST00000395523) - c.703C>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs753877007 | 235 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32157919G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157919G>C Locations: - p.Gln235His (Ensembl:ENST00000324816) - c.705G>C (Ensembl:ENST00000324816) - p.Gln235His (Ensembl:ENST00000375143) - c.705G>C (Ensembl:ENST00000375143) - p.Gln235His (Ensembl:ENST00000395523) - c.705G>C (Ensembl:ENST00000395523) - p.Gln235His (Ensembl:ENST00000375137) - c.705G>C (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs556550910 | 235 | Q>K | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32157917C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32157917C>A Locations: - p.Gln235Lys (Ensembl:ENST00000324816) - c.703C>A (Ensembl:ENST00000324816) - p.Gln235Lys (Ensembl:ENST00000375143) - c.703C>A (Ensembl:ENST00000375143) - p.Gln235Lys (Ensembl:ENST00000375137) - c.703C>A (Ensembl:ENST00000375137) - p.Gln235Lys (Ensembl:ENST00000395523) - c.703C>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV61354851 | 238 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.69) Somatic: Yes Accession: NC_000006.12:g.32162571C>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162571C>G Locations: - p.F238L (NCI-TCGA:ENST00000324816) - p.Phe238Leu (cosmic curated:ENST00000324816) - c.714C>G (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV61354738 | 238 | F>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162570T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32162570T>C Locations: - p.Phe238Ser (cosmic curated:ENST00000395523) - c.713T>C (cosmic curated:ENST00000395523) - p.Phe238Ser (cosmic curated:ENST00000324816) - c.713T>C (cosmic curated:ENST00000324816) - p.Phe238Ser (cosmic curated:ENST00000375143) - c.713T>C (cosmic curated:ENST00000375143) - p.Phe238Ser (cosmic curated:ENST00000375137) - c.713T>C (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs2127397701 | 239 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162572T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162572T>A Locations: - p.Phe239Ile (Ensembl:ENST00000375143) - c.715T>A (Ensembl:ENST00000375143) - p.Phe239Ile (Ensembl:ENST00000375137) - c.715T>A (Ensembl:ENST00000375137) - p.Phe239Ile (Ensembl:ENST00000395523) - c.715T>A (Ensembl:ENST00000395523) - p.Phe239Ile (Ensembl:ENST00000324816) - c.715T>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1784232431 | 239 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162573T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162573T>C Locations: - p.Phe239Ser (Ensembl:ENST00000324816) - c.716T>C (Ensembl:ENST00000324816) - p.Phe239Ser (Ensembl:ENST00000375137) - c.716T>C (Ensembl:ENST00000375137) - p.Phe239Ser (Ensembl:ENST00000395523) - c.716T>C (Ensembl:ENST00000395523) - p.Phe239Ser (Ensembl:ENST00000375143) - c.716T>C (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
rs1784232657 | 240 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.32162575G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162575G>A Locations: - p.Gly240Ser (Ensembl:ENST00000395523) - c.718G>A (Ensembl:ENST00000395523) - p.Gly240Ser (Ensembl:ENST00000375143) - c.718G>A (Ensembl:ENST00000375143) - p.Gly240Ser (Ensembl:ENST00000375137) - c.718G>A (Ensembl:ENST00000375137) - p.Gly240Ser (Ensembl:ENST00000324816) - c.718G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs372154109 | 242 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162582A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162582A>G Locations: - p.Tyr242Cys (Ensembl:ENST00000395523) - c.725A>G (Ensembl:ENST00000395523) - p.Tyr242Cys (Ensembl:ENST00000324816) - c.725A>G (Ensembl:ENST00000324816) - p.Tyr242Cys (Ensembl:ENST00000375143) - c.725A>G (Ensembl:ENST00000375143) - p.Tyr242Cys (Ensembl:ENST00000375137) - c.725A>G (Ensembl:ENST00000375137) Source type: large scale study | |||||||
COSV61353828 | 246 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162593G>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162593G>T Locations: - p.E246* (NCI-TCGA:ENST00000324816) - p.Glu246Ter (cosmic curated:ENST00000324816) - c.736G>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1784233617 | 247 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.32162596A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162596A>G Locations: - p.Thr247Ala (Ensembl:ENST00000324816) - c.739A>G (Ensembl:ENST00000324816) - p.Thr247Ala (Ensembl:ENST00000375137) - c.739A>G (Ensembl:ENST00000375137) - p.Thr247Ala (Ensembl:ENST00000375143) - c.739A>G (Ensembl:ENST00000375143) - p.Thr247Ala (Ensembl:ENST00000395523) - c.739A>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs941565441 | 248 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.29) Somatic: No Population frequencies: - MAF: 0.000007953 (gnomAD) Accession: NC_000006.12:g.32162599G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162599G>A Locations: - p.V248I (NCI-TCGA:ENST00000395523) - p.V248I (NCI-TCGA:ENST00000375137) - p.V248I (NCI-TCGA:ENST00000324816) - p.V248I (NCI-TCGA:ENST00000375143) - p.Val248Ile (Ensembl:ENST00000324816) - c.742G>A (Ensembl:ENST00000324816) - p.Val248Ile (Ensembl:ENST00000375143) - c.742G>A (Ensembl:ENST00000375143) - p.Val248Ile (Ensembl:ENST00000375137) - c.742G>A (Ensembl:ENST00000375137) - p.Val248Ile (Ensembl:ENST00000395523) - c.742G>A (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1430940030 | 249 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162603T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162603T>C Locations: - p.Leu249Pro (Ensembl:ENST00000324816) - c.746T>C (Ensembl:ENST00000324816) - p.Leu249Pro (Ensembl:ENST00000375137) - c.746T>C (Ensembl:ENST00000375137) - p.Leu249Pro (Ensembl:ENST00000375143) - c.746T>C (Ensembl:ENST00000375143) - p.Leu249Pro (Ensembl:ENST00000395523) - c.746T>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV105202410 | 251 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162610G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32162610G>A Locations: - p.Met251Ile (cosmic curated:ENST00000395523) - c.753G>A (cosmic curated:ENST00000395523) - p.Met251Ile (cosmic curated:ENST00000375143) - c.753G>A (cosmic curated:ENST00000375143) - p.Met251Ile (cosmic curated:ENST00000375137) - c.753G>A (cosmic curated:ENST00000375137) - p.Met251Ile (cosmic curated:ENST00000324816) - c.753G>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV100247066 | 252 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000006.12:g.32162611G>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162611G>A Locations: - p.E252K (NCI-TCGA:ENST00000324816) - p.Glu252Lys (cosmic curated:ENST00000324816) - c.754G>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1305823414 | 253 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000006.12:g.32162614G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162614G>A Locations: - p.Glu253Lys (Ensembl:ENST00000395523) - c.757G>A (Ensembl:ENST00000395523) - p.Glu253Lys (Ensembl:ENST00000375137) - c.757G>A (Ensembl:ENST00000375137) - p.Glu253Lys (Ensembl:ENST00000324816) - c.757G>A (Ensembl:ENST00000324816) - p.Glu253Lys (Ensembl:ENST00000375143) - c.757G>A (Ensembl:ENST00000375143) Source type: large scale study Cross-references: | |||||||
CA249191 COSV100247179 RCV000202988 rs771678882 | 256 | V>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.22) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000006.12:g.32162807G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162807G>A Locations: - p.Val256Ile (Ensembl:ENST00000395523) - c.766G>A (Ensembl:ENST00000395523) - p.Val256Ile (Ensembl:ENST00000375137) - c.766G>A (Ensembl:ENST00000375137) - p.Val256Ile (Ensembl:ENST00000324816) - c.766G>A (Ensembl:ENST00000324816) - p.Val256Ile (Ensembl:ENST00000375143) - c.766G>A (Ensembl:ENST00000375143) Source type: large scale study | |||||||
TCGA novel | 258 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.7) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000006.12:g.32162814T>C Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162814T>C Locations: - c.773T>C (NCI-TCGA:ENST00000324816) - p.L258P (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs772724213 | 258 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000006.12:g.32162813C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162813C>G Locations: - p.Leu258Val (Ensembl:ENST00000324816) - c.772C>G (Ensembl:ENST00000324816) - p.Leu258Val (Ensembl:ENST00000375143) - c.772C>G (Ensembl:ENST00000375143) - p.Leu258Val (Ensembl:ENST00000395523) - c.772C>G (Ensembl:ENST00000395523) - p.Leu258Val (Ensembl:ENST00000375137) - c.772C>G (Ensembl:ENST00000375137) Source type: large scale study | |||||||
rs766049550 | 259 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000006.12:g.32162817G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162817G>A Locations: - p.Arg259Gln (Ensembl:ENST00000375143) - c.776G>A (Ensembl:ENST00000375143) - p.Arg259Gln (Ensembl:ENST00000395523) - c.776G>A (Ensembl:ENST00000395523) - p.Arg259Gln (Ensembl:ENST00000324816) - c.776G>A (Ensembl:ENST00000324816) - p.Arg259Gln (Ensembl:ENST00000375137) - c.776G>A (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs760386503 | 259 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162816C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162816C>T Locations: - p.Arg259Trp (Ensembl:ENST00000375137) - c.775C>T (Ensembl:ENST00000375137) - p.Arg259Trp (Ensembl:ENST00000395523) - c.775C>T (Ensembl:ENST00000395523) - p.Arg259Trp (Ensembl:ENST00000375143) - c.775C>T (Ensembl:ENST00000375143) - p.Arg259Trp (Ensembl:ENST00000324816) - c.775C>T (Ensembl:ENST00000324816) Source type: large scale study | |||||||
TCGA novel | 261 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000006.12:g.32162823C>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162823C>T Locations: - c.782C>T (NCI-TCGA:ENST00000324816) - p.S261F (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs564627279 | 262 | F>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162826T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162826T>C Locations: - p.Phe262Ser (Ensembl:ENST00000375143) - c.785T>C (Ensembl:ENST00000375143) - p.Phe262Ser (Ensembl:ENST00000375137) - c.785T>C (Ensembl:ENST00000375137) - p.Phe262Ser (Ensembl:ENST00000395523) - c.785T>C (Ensembl:ENST00000395523) - p.Phe262Ser (Ensembl:ENST00000324816) - c.785T>C (Ensembl:ENST00000324816) Source type: large scale study | |||||||
rs2127398143 | 263 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32162829G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162829G>C Locations: - p.Gly263Ala (Ensembl:ENST00000375143) - c.788G>C (Ensembl:ENST00000375143) - p.Gly263Ala (Ensembl:ENST00000395523) - c.788G>C (Ensembl:ENST00000395523) - p.Gly263Ala (Ensembl:ENST00000375137) - c.788G>C (Ensembl:ENST00000375137) - p.Gly263Ala (Ensembl:ENST00000324816) - c.788G>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV61355235 | 263 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162828G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32162828G>T Locations: - p.Gly263Trp (cosmic curated:ENST00000375143) - c.787G>T (cosmic curated:ENST00000375143) - p.Gly263Trp (cosmic curated:ENST00000395523) - c.787G>T (cosmic curated:ENST00000395523) - p.Gly263Trp (cosmic curated:ENST00000324816) - c.787G>T (cosmic curated:ENST00000324816) - p.Gly263Trp (cosmic curated:ENST00000375137) - c.787G>T (cosmic curated:ENST00000375137) Source type: large scale study Cross-references: | |||||||
TCGA novel | 267 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162841T>C Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162841T>C Locations: - c.800T>C (NCI-TCGA:ENST00000324816) - p.L267P (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs765235405 | 268 | L>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.32162844T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162844T>G Locations: - p.Leu268Trp (Ensembl:ENST00000375137) - c.803T>G (Ensembl:ENST00000375137) - p.Leu268Trp (Ensembl:ENST00000375143) - c.803T>G (Ensembl:ENST00000375143) - p.Leu268Trp (Ensembl:ENST00000395523) - c.803T>G (Ensembl:ENST00000395523) - p.Leu268Trp (Ensembl:ENST00000324816) - c.803T>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs752752708 | 269 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.15) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.32162847C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162847C>T Locations: - p.Ala269Val (Ensembl:ENST00000324816) - c.806C>T (Ensembl:ENST00000324816) - p.Ala269Val (Ensembl:ENST00000395523) - c.806C>T (Ensembl:ENST00000395523) - p.Ala269Val (Ensembl:ENST00000375137) - c.806C>T (Ensembl:ENST00000375137) - p.Ala269Val (Ensembl:ENST00000375143) - c.806C>T (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs761789089 | 270 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32162849C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162849C>G Locations: - p.Arg270Gly (Ensembl:ENST00000324816) - c.808C>G (Ensembl:ENST00000324816) - p.Arg270Gly (Ensembl:ENST00000375143) - c.808C>G (Ensembl:ENST00000375143) - p.Arg270Gly (Ensembl:ENST00000375137) - c.808C>G (Ensembl:ENST00000375137) - p.Arg270Gly (Ensembl:ENST00000395523) - c.808C>G (Ensembl:ENST00000395523) Source type: large scale study | |||||||
COSV61353944 rs767651019 | 270 | R>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.32162850G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162850G>T Locations: - p.Arg270Leu (Ensembl:ENST00000375143) - c.809G>T (Ensembl:ENST00000375143) - p.Arg270Leu (Ensembl:ENST00000324816) - c.809G>T (Ensembl:ENST00000324816) - p.Arg270Leu (Ensembl:ENST00000395523) - c.809G>T (Ensembl:ENST00000395523) - p.Arg270Leu (Ensembl:ENST00000375137) - c.809G>T (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs767651019 | 270 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162850G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162850G>C Locations: - p.Arg270Pro (Ensembl:ENST00000375143) - c.809G>C (Ensembl:ENST00000375143) - p.Arg270Pro (Ensembl:ENST00000324816) - c.809G>C (Ensembl:ENST00000324816) - p.Arg270Pro (Ensembl:ENST00000375137) - c.809G>C (Ensembl:ENST00000375137) - p.Arg270Pro (Ensembl:ENST00000395523) - c.809G>C (Ensembl:ENST00000395523) Source type: large scale study | |||||||
COSV61353901 COSV61353944 rs767651019 | 270 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0.04) Somatic: Yes Population frequencies: - MAF: 0.000007962 (gnomAD) Accession: NC_000006.12:g.32162850G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162850G>A Locations: - p.R270Q (NCI-TCGA:ENST00000395523) - p.R270Q (NCI-TCGA:ENST00000375137) - p.R270Q (NCI-TCGA:ENST00000324816) - p.R270Q (NCI-TCGA:ENST00000375143) - p.Arg270Gln (Ensembl:ENST00000324816) - c.809G>A (Ensembl:ENST00000324816) - p.Arg270Gln (Ensembl:ENST00000395523) - c.809G>A (Ensembl:ENST00000395523) - p.Arg270Gln (Ensembl:ENST00000375137) - c.809G>A (Ensembl:ENST00000375137) - p.Arg270Gln (Ensembl:ENST00000375143) - c.809G>A (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs761789089 | 270 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162849C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162849C>T Locations: - p.Arg270Trp (Ensembl:ENST00000375143) - c.808C>T (Ensembl:ENST00000375143) - p.Arg270Trp (Ensembl:ENST00000375137) - c.808C>T (Ensembl:ENST00000375137) - p.Arg270Trp (Ensembl:ENST00000395523) - c.808C>T (Ensembl:ENST00000395523) - p.Arg270Trp (Ensembl:ENST00000324816) - c.808C>T (Ensembl:ENST00000324816) Source type: large scale study | |||||||
COSV61353901 COSV61353901,COSV61353944 COSV61353944 | 272 | A>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: No Accession: NC_000006.12:g.32162850del Consequence type: frameshift Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162850del Locations: - c.814del (NCI-TCGA:ENST00000324816) - p.A272Pfs*2 (NCI-TCGA:ENST00000324816) Source type: large scale study | |||||||
COSV100246738 | 273 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.32162860A>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162860A>G Locations: - p.I273M (NCI-TCGA:ENST00000324816) - p.Ile273Met (cosmic curated:ENST00000324816) - c.819A>G (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV100247129 rs756387699 | 273 | I>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000006.12:g.32162859T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162859T>G Locations: - p.Ile273Arg (Ensembl:ENST00000395523) - c.818T>G (Ensembl:ENST00000395523) - p.Ile273Arg (Ensembl:ENST00000375137) - c.818T>G (Ensembl:ENST00000375137) - p.Ile273Arg (Ensembl:ENST00000324816) - c.818T>G (Ensembl:ENST00000324816) - p.Ile273Arg (Ensembl:ENST00000375143) - c.818T>G (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs1476236459 | 274 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000006.12:g.32162862T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162862T>C Locations: - p.Val274Ala (Ensembl:ENST00000324816) - c.821T>C (Ensembl:ENST00000324816) - p.Val274Ala (Ensembl:ENST00000395523) - c.821T>C (Ensembl:ENST00000395523) - p.Val274Ala (Ensembl:ENST00000375143) - c.821T>C (Ensembl:ENST00000375143) - p.Val274Ala (Ensembl:ENST00000375137) - c.821T>C (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs1643502366 | 274 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000006.12:g.32162861G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162861G>T Locations: - p.Val274Leu (Ensembl:ENST00000375137) - c.820G>T (Ensembl:ENST00000375137) - p.Val274Leu (Ensembl:ENST00000395523) - c.820G>T (Ensembl:ENST00000395523) - p.Val274Leu (Ensembl:ENST00000375143) - c.820G>T (Ensembl:ENST00000375143) - p.Val274Leu (Ensembl:ENST00000324816) - c.820G>T (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs780229679 | 275 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000006.12:g.32162865G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162865G>C Locations: - p.Arg275Thr (Ensembl:ENST00000324816) - c.824G>C (Ensembl:ENST00000324816) - p.Arg275Thr (Ensembl:ENST00000375137) - c.824G>C (Ensembl:ENST00000375137) - p.Arg275Thr (Ensembl:ENST00000395523) - c.824G>C (Ensembl:ENST00000395523) - p.Arg275Thr (Ensembl:ENST00000375143) - c.824G>C (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs201635436 | 277 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000006.12:g.32162871C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162871C>A Locations: - p.Pro277Gln (Ensembl:ENST00000395523) - c.830C>A (Ensembl:ENST00000395523) - p.Pro277Gln (Ensembl:ENST00000375137) - c.830C>A (Ensembl:ENST00000375137) - p.Pro277Gln (Ensembl:ENST00000375143) - c.830C>A (Ensembl:ENST00000375143) - p.Pro277Gln (Ensembl:ENST00000324816) - c.830C>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs915296613 | 277 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000006.12:g.32162870C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162870C>T Locations: - p.Pro277Ser (Ensembl:ENST00000375137) - c.829C>T (Ensembl:ENST00000375137) - p.Pro277Ser (Ensembl:ENST00000375143) - c.829C>T (Ensembl:ENST00000375143) - p.Pro277Ser (Ensembl:ENST00000324816) - c.829C>T (Ensembl:ENST00000324816) - p.Pro277Ser (Ensembl:ENST00000395523) - c.829C>T (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs145104389 | 278 | M>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000006.12:g.32162874T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162874T>C Locations: - p.Met278Thr (Ensembl:ENST00000324816) - c.833T>C (Ensembl:ENST00000324816) - p.Met278Thr (Ensembl:ENST00000395523) - c.833T>C (Ensembl:ENST00000395523) - p.Met278Thr (Ensembl:ENST00000375137) - c.833T>C (Ensembl:ENST00000375137) - p.Met278Thr (Ensembl:ENST00000375143) - c.833T>C (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs767427607 | 278 | M>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.32162873A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162873A>G Locations: - p.Met278Val (Ensembl:ENST00000324816) - c.832A>G (Ensembl:ENST00000324816) - p.Met278Val (Ensembl:ENST00000395523) - c.832A>G (Ensembl:ENST00000395523) - p.Met278Val (Ensembl:ENST00000375137) - c.832A>G (Ensembl:ENST00000375137) - p.Met278Val (Ensembl:ENST00000375143) - c.832A>G (Ensembl:ENST00000375143) Source type: large scale study | |||||||
rs1264744664 | 280 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162879G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162879G>A Locations: - p.Gly280Ser (Ensembl:ENST00000375143) - c.838G>A (Ensembl:ENST00000375143) - p.Gly280Ser (Ensembl:ENST00000395523) - c.838G>A (Ensembl:ENST00000395523) - p.Gly280Ser (Ensembl:ENST00000375137) - c.838G>A (Ensembl:ENST00000375137) - p.Gly280Ser (Ensembl:ENST00000324816) - c.838G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs528752823 | 281 | I>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.32162882A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162882A>G Locations: - p.Ile281Val (Ensembl:ENST00000395523) - c.841A>G (Ensembl:ENST00000395523) - p.Ile281Val (Ensembl:ENST00000375137) - c.841A>G (Ensembl:ENST00000375137) - p.Ile281Val (Ensembl:ENST00000375143) - c.841A>G (Ensembl:ENST00000375143) - p.Ile281Val (Ensembl:ENST00000324816) - c.841A>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs771423260 | 284 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000006.12:g.32162892C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162892C>T Locations: - p.Thr284Ile (Ensembl:ENST00000395523) - c.851C>T (Ensembl:ENST00000395523) - p.Thr284Ile (Ensembl:ENST00000375143) - c.851C>T (Ensembl:ENST00000375143) - p.Thr284Ile (Ensembl:ENST00000324816) - c.851C>T (Ensembl:ENST00000324816) - p.Thr284Ile (Ensembl:ENST00000375137) - c.851C>T (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
TCGA novel | 284 | T>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.373) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000006.12:g.32162892C>G Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162892C>G Locations: - c.851C>G (NCI-TCGA:ENST00000324816) - p.T284R (NCI-TCGA:ENST00000324816) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV61354420 | 286 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162899G>A Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162899G>A Locations: - p.W286* (NCI-TCGA:ENST00000324816) - p.Trp286Ter (cosmic curated:ENST00000324816) - c.858G>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1311712488 | 287 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32162900C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162900C>A Locations: - p.His287Asn (Ensembl:ENST00000375143) - c.859C>A (Ensembl:ENST00000375143) - p.His287Asn (Ensembl:ENST00000375137) - c.859C>A (Ensembl:ENST00000375137) - p.His287Asn (Ensembl:ENST00000395523) - c.859C>A (Ensembl:ENST00000395523) - p.His287Asn (Ensembl:ENST00000324816) - c.859C>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1784257922 | 288 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.32162904C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162904C>G Locations: - p.Ser288Cys (Ensembl:ENST00000324816) - c.863C>G (Ensembl:ENST00000324816) - p.Ser288Cys (Ensembl:ENST00000375137) - c.863C>G (Ensembl:ENST00000375137) - p.Ser288Cys (Ensembl:ENST00000375143) - c.863C>G (Ensembl:ENST00000375143) - p.Ser288Cys (Ensembl:ENST00000395523) - c.863C>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs1784258194 | 289 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.32162907A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162907A>G Locations: - p.Asn289Ser (Ensembl:ENST00000375137) - c.866A>G (Ensembl:ENST00000375137) - p.Asn289Ser (Ensembl:ENST00000375143) - c.866A>G (Ensembl:ENST00000375143) - p.Asn289Ser (Ensembl:ENST00000324816) - c.866A>G (Ensembl:ENST00000324816) - p.Asn289Ser (Ensembl:ENST00000395523) - c.866A>G (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
COSV100246917 rs144778647 | 290 | R>C | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000006.12:g.32162909C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162909C>T Locations: - p.Arg290Cys (Ensembl:ENST00000375143) - c.868C>T (Ensembl:ENST00000375143) - p.Arg290Cys (Ensembl:ENST00000395523) - c.868C>T (Ensembl:ENST00000395523) - p.Arg290Cys (Ensembl:ENST00000324816) - c.868C>T (Ensembl:ENST00000324816) - p.Arg290Cys (Ensembl:ENST00000375137) - c.868C>T (Ensembl:ENST00000375137) Source type: large scale study | |||||||
rs144778647 | 290 | R>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000006.12:g.32162909C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162909C>G Locations: - p.Arg290Gly (Ensembl:ENST00000395523) - c.868C>G (Ensembl:ENST00000395523) - p.Arg290Gly (Ensembl:ENST00000375143) - c.868C>G (Ensembl:ENST00000375143) - p.Arg290Gly (Ensembl:ENST00000375137) - c.868C>G (Ensembl:ENST00000375137) - p.Arg290Gly (Ensembl:ENST00000324816) - c.868C>G (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV61353929 rs1178671541 | 290 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.49) Somatic: Yes Population frequencies: - MAF: 0.000007959 (gnomAD) Accession: NC_000006.12:g.32162910G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162910G>A Locations: - p.R290H (NCI-TCGA:ENST00000395523) - p.R290H (NCI-TCGA:ENST00000375137) - p.R290H (NCI-TCGA:ENST00000324816) - p.R290H (NCI-TCGA:ENST00000375143) - p.Arg290His (Ensembl:ENST00000324816) - c.869G>A (Ensembl:ENST00000324816) - p.Arg290His (Ensembl:ENST00000395523) - c.869G>A (Ensembl:ENST00000395523) - p.Arg290His (Ensembl:ENST00000375143) - c.869G>A (Ensembl:ENST00000375143) - p.Arg290His (Ensembl:ENST00000375137) - c.869G>A (Ensembl:ENST00000375137) Source type: large scale study | |||||||
rs2127398336 | 294 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.32162921G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162921G>A Locations: - p.Glu294Lys (Ensembl:ENST00000395523) - c.880G>A (Ensembl:ENST00000395523) - p.Glu294Lys (Ensembl:ENST00000375137) - c.880G>A (Ensembl:ENST00000375137) - p.Glu294Lys (Ensembl:ENST00000375143) - c.880G>A (Ensembl:ENST00000375143) - p.Glu294Lys (Ensembl:ENST00000324816) - c.880G>A (Ensembl:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1784259610 | 296 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162927T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162927T>C Locations: - p.Cys296Arg (Ensembl:ENST00000324816) - c.886T>C (Ensembl:ENST00000324816) - p.Cys296Arg (Ensembl:ENST00000375143) - c.886T>C (Ensembl:ENST00000375143) - p.Cys296Arg (Ensembl:ENST00000395523) - c.886T>C (Ensembl:ENST00000395523) - p.Cys296Arg (Ensembl:ENST00000375137) - c.886T>C (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
COSV100246965 | 297 | I>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162930A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32162930A>T Locations: - p.Ile297Phe (cosmic curated:ENST00000375143) - c.889A>T (cosmic curated:ENST00000375143) - p.Ile297Phe (cosmic curated:ENST00000375137) - c.889A>T (cosmic curated:ENST00000375137) - p.Ile297Phe (cosmic curated:ENST00000324816) - c.889A>T (cosmic curated:ENST00000324816) - p.Ile297Phe (cosmic curated:ENST00000395523) - c.889A>T (cosmic curated:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs770595939 | 297 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162931T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162931T>C Locations: - p.Ile297Thr (Ensembl:ENST00000395523) - c.890T>C (Ensembl:ENST00000395523) - p.Ile297Thr (Ensembl:ENST00000324816) - c.890T>C (Ensembl:ENST00000324816) - p.Ile297Thr (Ensembl:ENST00000375137) - c.890T>C (Ensembl:ENST00000375137) - p.Ile297Thr (Ensembl:ENST00000375143) - c.890T>C (Ensembl:ENST00000375143) Source type: large scale study | |||||||
COSV61354059 | 298 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162933G>T Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162933G>T Locations: - p.E298* (NCI-TCGA:ENST00000324816) - p.Glu298Ter (cosmic curated:ENST00000324816) - c.892G>T (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
COSV104535016 | 300 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.32162940G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.32162940G>A Locations: - p.Trp300Ter (cosmic curated:ENST00000375137) - c.899G>A (cosmic curated:ENST00000375137) - p.Trp300Ter (cosmic curated:ENST00000375143) - c.899G>A (cosmic curated:ENST00000375143) - p.Trp300Ter (cosmic curated:ENST00000395523) - c.899G>A (cosmic curated:ENST00000395523) - p.Trp300Ter (cosmic curated:ENST00000324816) - c.899G>A (cosmic curated:ENST00000324816) Source type: large scale study Cross-references: | |||||||
rs1784260431 | 300 | W>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162940G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162940G>C Locations: - p.Trp300Ser (Ensembl:ENST00000375137) - c.899G>C (Ensembl:ENST00000375137) - p.Trp300Ser (Ensembl:ENST00000375143) - c.899G>C (Ensembl:ENST00000375143) - p.Trp300Ser (Ensembl:ENST00000324816) - c.899G>C (Ensembl:ENST00000324816) - p.Trp300Ser (Ensembl:ENST00000395523) - c.899G>C (Ensembl:ENST00000395523) Source type: large scale study Cross-references: | |||||||
rs2127398368 | 301 | L>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162943T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162943T>A Locations: - p.Leu301His (Ensembl:ENST00000324816) - c.902T>A (Ensembl:ENST00000324816) - p.Leu301His (Ensembl:ENST00000375143) - c.902T>A (Ensembl:ENST00000375143) - p.Leu301His (Ensembl:ENST00000395523) - c.902T>A (Ensembl:ENST00000395523) - p.Leu301His (Ensembl:ENST00000375137) - c.902T>A (Ensembl:ENST00000375137) Source type: large scale study Cross-references: | |||||||
rs1042610375 | 302 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.32162945T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 6p21.32 Genomic location: NC_000006.12:g.32162945T>C Locations: - p.Ser302Pro (Ensembl:ENST00000395523) - c.904T>C (Ensembl:ENST00000395523) - p.Ser302Pro (Ensembl:ENST00000375137) - c.904T>C (Ensembl:ENST00000375137) - p.Ser302Pro (Ensembl:ENST00000375143) - c.904T>C (Ensembl:ENST00000375143) - p.Ser302Pro (Ensembl:ENST00000324816) - c.904T>C (Ensembl:ENST00000324816) Source type: large scale study Cross-references: |