A0A087WZ38 · A0A087WZ38_HUMAN
- ProteinProgrammed cell death 6
- GenePDCD6
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids123 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV53776101 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.271721A> Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.271721A> Locations: - p.Met1? (cosmic curated:ENST00000618970) - c.1del (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1737807496 | 2 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000005.10:g.271724G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271724G>T Locations: - p.Ala2Ser (Ensembl:ENST00000618970) - c.4G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53775930 | 2 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.271724G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.271724G>A Locations: - p.Ala2Thr (cosmic curated:ENST00000618970) - c.4G>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV107297922 rs184133341 | 3 | A>G | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated - low confidence (0.58) Somatic: Yes Accession: NC_000005.10:g.271728C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271728C>G Locations: - p.Ala3Gly (Ensembl:ENST00000618970) - c.8C>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs184133341 | 3 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000005.10:g.271728C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271728C>T Locations: - p.Ala3Val (Ensembl:ENST00000618970) - c.8C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1017374426 | 4 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000005.10:g.271731A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271731A>G Locations: - p.Tyr4Cys (Ensembl:ENST00000618970) - c.11A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1017374426 | 4 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.248) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000005.10:g.271731A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271731A>T Locations: - p.Tyr4Phe (Ensembl:ENST00000618970) - c.11A>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1487041974 | 6 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.271736T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271736T>C Locations: - p.Tyr6His (Ensembl:ENST00000618970) - c.16T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1487041974 | 6 | Y>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.271736T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271736T>A Locations: - p.Tyr6Asn (Ensembl:ENST00000618970) - c.16T>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs2126669381 | 6 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.271737A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271737A>C Locations: - p.Tyr6Ser (Ensembl:ENST00000618970) - c.17A>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1397086378 | 7 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.643) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.271740G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271740G>A Locations: - p.Arg7His (Ensembl:ENST00000618970) - c.20G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV107297942 | 7 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.271740G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.271740G>T Locations: - p.Arg7Leu (cosmic curated:ENST00000618970) - c.20G>T (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs758102211 | 7 | R>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.271739C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271739C>A Locations: - p.Arg7Ser (Ensembl:ENST00000618970) - c.19C>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53778855 | 8 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.271743-271747CCGGC>TGGGG Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.271743-271747CCGGC>TGGGG Locations: - p.Pro8Leu (cosmic curated:ENST00000618970) - c.23_27delinsTGGGG (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs756273513 | 9 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.677) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.271745G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271745G>T Locations: - p.Gly9Cys (Ensembl:ENST00000618970) - c.25G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1737811046 | 9 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.271746G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271746G>A Locations: - p.Gly9Asp (Ensembl:ENST00000618970) - c.26G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53777447 | 9 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.271746G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.271746G>T Locations: - p.Gly9Val (cosmic curated:ENST00000618970) - c.26G>T (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs777939841 | 10 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000005.10:g.271748C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271748C>G Locations: - p.Pro10Ala (Ensembl:ENST00000618970) - c.28C>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs749816991 | 10 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.271749C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271749C>G Locations: - p.Pro10Arg (Ensembl:ENST00000618970) - c.29C>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
COSV104993208 rs777939841 | 10 | P>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000005.10:g.271748C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271748C>T Locations: - p.Pro10Ser (Ensembl:ENST00000618970) - c.28C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs777939841 | 10 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000005.10:g.271748C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271748C>A Locations: - p.Pro10Thr (Ensembl:ENST00000618970) - c.28C>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1272474735 | 11 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.271752G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271752G>A Locations: - p.Gly11Glu (Ensembl:ENST00000618970) - c.32G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53777093 rs201564379 | 12 | A>P | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000005.10:g.271754G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271754G>C Locations: - p.Ala12Pro (Ensembl:ENST00000618970) - c.34G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53779547 rs201564379 | 12 | A>T | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000005.10:g.271754G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271754G>A Locations: - p.Ala12Thr (Ensembl:ENST00000618970) - c.34G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1166402083 | 12 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000005.10:g.271755C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271755C>T Locations: - p.Ala12Val (Ensembl:ENST00000618970) - c.35C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1288123672 | 13 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.271757G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271757G>T Locations: - p.Gly13Cys (Ensembl:ENST00000618970) - c.37G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1737814571 | 13 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000005.10:g.271758G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271758G>A Locations: - p.Gly13Asp (Ensembl:ENST00000618970) - c.38G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1288123672 | 13 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000005.10:g.271757G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271757G>A Locations: - p.Gly13Ser (Ensembl:ENST00000618970) - c.37G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs746293509 | 14 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.271761C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271761C>T Locations: - p.Pro14Leu (Ensembl:ENST00000618970) - c.41C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs746293509 | 14 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.271761C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271761C>G Locations: - p.Pro14Arg (Ensembl:ENST00000618970) - c.41C>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1737815764 | 15 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.271764G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271764G>C Locations: - p.Gly15Ala (Ensembl:ENST00000618970) - c.44G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1737816287 | 16 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000005.10:g.271767C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271767C>G Locations: - p.Pro16Arg (Ensembl:ENST00000618970) - c.47C>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1247024500 | 16 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000005.10:g.271766C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271766C>T Locations: - p.Pro16Ser (Ensembl:ENST00000618970) - c.46C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs955515218 | 17 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000005.10:g.271770C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271770C>A Locations: - p.Ala17Asp (Ensembl:ENST00000618970) - c.50C>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs772295666 | 18 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000005.10:g.271772G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271772G>A Locations: - p.Ala18Thr (Ensembl:ENST00000618970) - c.52G>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs775280286 | 18 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000005.10:g.271773C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271773C>T Locations: - p.Ala18Val (Ensembl:ENST00000618970) - c.53C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1161249481 | 19 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.271775G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271775G>T Locations: - p.Gly19Cys (Ensembl:ENST00000618970) - c.55G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs776056423 | 20 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000005.10:g.271779C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271779C>T Locations: - p.Ala20Val (Ensembl:ENST00000618970) - c.59C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
COSV53775972 rs1388148155 | 21 | A>E | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000005.10:g.271782C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271782C>A Locations: - p.Ala21Glu (Ensembl:ENST00000618970) - c.62C>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs761773860 | 23 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.271788C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271788C>G Locations: - p.Pro23Arg (Ensembl:ENST00000618970) - c.68C>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53779609 | 23 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.271787C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.271787C>A Locations: - p.Pro23Thr (cosmic curated:ENST00000618970) - c.67C>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1327564224 | 24 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.271790G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271790G>C Locations: - p.Asp24His (Ensembl:ENST00000618970) - c.70G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372684 rs765204974 | 26 | S>G | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.73) Somatic: Yes Accession: NC_000005.10:g.271796A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271796A>G Locations: - p.Ser26Gly (Ensembl:ENST00000618970) - c.76A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1737819909 | 29 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.271807G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271807G>A Locations: - p.Trp29Ter (Ensembl:ENST00000618970) - c.87G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs750325445 | 30 | N>K | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.399) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.271810C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271810C>A Locations: - p.Asn30Lys (Ensembl:ENST00000618970) - c.90C>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53780930 | 32 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.271816C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.271816C>A Locations: - p.Phe32Leu (cosmic curated:ENST00000618970) - c.96C>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs752976402 | 33 | Q>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000005.10:g.271818A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271818A>T Locations: - p.Gln33Leu (Ensembl:ENST00000618970) - c.98A>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs752976402 | 33 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.271818A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.271818A>G Locations: - p.Gln33Arg (Ensembl:ENST00000618970) - c.98A>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs772527936 | 38 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.792) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.272723C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272723C>G Locations: - p.Asp38Glu (Ensembl:ENST00000618970) - c.114C>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs530283704 | 38 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.272721G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272721G>A Locations: - p.Asp38Asn (Ensembl:ENST00000618970) - c.112G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99373094 | 38 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.272722A>T Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272722A>T Locations: - p.D38V (NCI-TCGA:ENST00000618970) - p.Asp38Val (cosmic curated:ENST00000618970) - c.113A>T (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1737912390 | 39 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.272726G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272726G>C Locations: - p.Arg39Ser (Ensembl:ENST00000618970) - c.117G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372826 | 41 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.272730G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.272730G>T Locations: - p.Gly41Ter (cosmic curated:ENST00000618970) - c.121G>T (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1326314063 | 41 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.272730G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272730G>A Locations: - p.Gly41Arg (Ensembl:ENST00000618970) - c.121G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs548493620 | 43 | I>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.272736A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272736A>G Locations: - p.Ile43Val (Ensembl:ENST00000618970) - c.127A>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
COSV53781244 | 44 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.272740C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.272740C>G Locations: - p.Ser44Ter (cosmic curated:ENST00000618970) - c.131C>G (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs569881326 | 44 | S>A | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.272739T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272739T>G Locations: - p.Ser44Ala (Ensembl:ENST00000618970) - c.130T>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1737913300 | 44 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.457) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.272740C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272740C>T Locations: - p.Ser44Leu (Ensembl:ENST00000618970) - c.131C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs569881326 | 44 | S>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.272739T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272739T>C Locations: - p.Ser44Pro (Ensembl:ENST00000618970) - c.130T>C (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1435404294 | 45 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.272742G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272742G>T Locations: - p.Asp45Tyr (Ensembl:ENST00000618970) - c.133G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53777557 | 47 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.272748G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.272748G>A Locations: - p.Glu47Lys (cosmic curated:ENST00000618970) - c.139G>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs549592074 | 47 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.272748G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272748G>C Locations: - p.Glu47Gln (Ensembl:ENST00000618970) - c.139G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs571370281 | 49 | Q>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.272755A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272755A>G Locations: - p.Gln49Arg (Ensembl:ENST00000618970) - c.146A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs762071597 | 50 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.272757C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272757C>G Locations: - p.Gln50Glu (Ensembl:ENST00000618970) - c.148C>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs765365727 | 50 | Q>R | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.272758A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272758A>G Locations: - p.Gln50Arg (Ensembl:ENST00000618970) - c.149A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs750433350 | 52 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.272764T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272764T>C Locations: - p.Leu52Pro (Ensembl:ENST00000618970) - c.155T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53776009 | 52 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.272763C>G Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272763C>G Locations: - p.L52V (NCI-TCGA:ENST00000618970) - p.Leu52Val (cosmic curated:ENST00000618970) - c.154C>G (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs758971811 | 53 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.377) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.272766T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272766T>C Locations: - p.Ser53Pro (Ensembl:ENST00000618970) - c.157T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs752099329 | 54 | N>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000005.10:g.272770A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272770A>T Locations: - p.Asn54Ile (Ensembl:ENST00000618970) - c.161A>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
COSV53776815 rs199941631 | 54 | N>K | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000005.10:g.272771C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272771C>G Locations: - p.Asn54Lys (Ensembl:ENST00000618970) - c.162C>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs752099329 | 54 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000005.10:g.272770A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272770A>G Locations: - p.Asn54Ser (Ensembl:ENST00000618970) - c.161A>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1309129644 | 55 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.272772G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.272772G>A Locations: - p.Gly55Ser (Ensembl:ENST00000618970) - c.163G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs776613586 | 57 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311299G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311299G>T Locations: - p.Arg57Leu (Ensembl:ENST00000618970) - c.170G>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
COSV107297923 rs776613586 | 57 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000005.10:g.311299G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311299G>A Locations: - p.Arg57Gln (Ensembl:ENST00000618970) - c.170G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1416762592 | 57 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000003989 (gnomAD) Accession: NC_000005.10:g.311298C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311298C>T Locations: - p.R57W (NCI-TCGA:ENST00000618970) - p.Arg57Trp (Ensembl:ENST00000618970) - c.169C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1166624323 | 58 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.311301C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311301C>A Locations: - p.Leu58Ile (Ensembl:ENST00000618970) - c.172C>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1179587118 | 58 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311302T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311302T>C Locations: - p.Leu58Pro (Ensembl:ENST00000618970) - c.173T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1350026839 | 59 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311305C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311305C>G Locations: - p.Ser59Cys (Ensembl:ENST00000618970) - c.176C>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV104368590 | 60 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.311308A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.311308A>G Locations: - p.Asp60Gly (cosmic curated:ENST00000618970) - c.179A>G (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53779252 | 60 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.311307G>C Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311307G>C Locations: - p.D60H (NCI-TCGA:ENST00000618970) - p.Asp60His (cosmic curated:ENST00000618970) - c.178G>C (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1579556841 | 61 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.311310C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311310C>T Locations: - p.Gln61Ter (Ensembl:ENST00000618970) - c.181C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1740899683 | 62 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.311315C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311315C>G Locations: - p.Phe62Leu (Ensembl:ENST00000618970) - c.186C>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1740900241 | 64 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000005.10:g.311320A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311320A>G Locations: - p.Asp64Gly (Ensembl:ENST00000618970) - c.191A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV106371413 | 64 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.311319G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.311319G>C Locations: - p.Asp64His (cosmic curated:ENST00000618970) - c.190G>C (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1451981309 | 64 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311319G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311319G>T Locations: - p.Asp64Tyr (Ensembl:ENST00000618970) - c.190G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1363927572 | 68 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.311331C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311331C>T Locations: - p.Arg68Ter (Ensembl:ENST00000618970) - c.202C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs772846590 | 68 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.311332G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311332G>T Locations: - p.Arg68Leu (Ensembl:ENST00000618970) - c.203G>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs772846590 | 68 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000005.10:g.311332G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311332G>A Locations: - p.Arg68Gln (Ensembl:ENST00000618970) - c.203G>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs145654625 | 70 | F>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311337T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311337T>C Locations: - p.Phe70Leu (Ensembl:ENST00000618970) - c.208T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372916 rs1355076299 | 71 | D>G | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.311341A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311341A>G Locations: - p.Asp71Gly (Ensembl:ENST00000618970) - c.212A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1032938242 | 72 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311343A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311343A>T Locations: - p.Arg72Trp (Ensembl:ENST00000618970) - c.214A>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372641 | 74 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.311350G>A Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311350G>A Locations: - p.G74E (NCI-TCGA:ENST00000618970) - p.Gly74Glu (cosmic curated:ENST00000618970) - c.221G>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs183545231 | 75 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.311353G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311353G>C Locations: - p.Arg75Pro (Ensembl:ENST00000618970) - c.224G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs183545231 | 75 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.311353G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311353G>A Locations: - p.Arg75Gln (Ensembl:ENST00000618970) - c.224G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372601 rs767684079 | 75 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.11) Somatic: Yes Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000005.10:g.311352C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311352C>T Locations: - p.R75W (NCI-TCGA:ENST00000618970) - p.Arg75Trp (Ensembl:ENST00000618970) - c.223C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1740902702 | 76 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.311355G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311355G>C Locations: - p.Gly76Arg (Ensembl:ENST00000618970) - c.226G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372766 rs996549656 | 79 | A>T | 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 (0.33) Somatic: Yes Population frequencies: - MAF: 0.000003988 (gnomAD) Accession: NC_000005.10:g.311364G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311364G>A Locations: - p.A79T (NCI-TCGA:ENST00000618970) - p.Ala79Thr (Ensembl:ENST00000618970) - c.235G>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs757656555 | 79 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000005.10:g.311365C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311365C>T Locations: - p.Ala79Val (Ensembl:ENST00000618970) - c.236C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs779736494 | 81 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311372C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311372C>A Locations: - p.Asp81Glu (Ensembl:ENST00000618970) - c.243C>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs368897410 | 81 | D>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311370G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311370G>C Locations: - p.Asp81His (Ensembl:ENST00000618970) - c.241G>C (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs368897410 | 81 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000007979 (gnomAD) Accession: NC_000005.10:g.311370G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311370G>A Locations: - p.D81N (NCI-TCGA:ENST00000618970) - p.Asp81Asn (Ensembl:ENST00000618970) - c.241G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1378816110 | 82 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.378) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311373G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311373G>C Locations: - p.Asp82His (Ensembl:ENST00000618970) - c.244G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372753 rs1378816110 | 82 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.311373G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311373G>A Locations: - p.D82N (NCI-TCGA:ENST00000618970) - p.Asp82Asn (Ensembl:ENST00000618970) - c.244G>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1740904887 | 82 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311374A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311374A>T Locations: - p.Asp82Val (Ensembl:ENST00000618970) - c.245A>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1560865553 | 84 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.616) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.311379A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311379A>T Locations: - p.Ile84Phe (Ensembl:ENST00000618970) - c.250A>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53781177 | 86 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.311385G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.311385G>A Locations: - p.Gly86Ser (cosmic curated:ENST00000618970) - c.256G>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs746657841 | 87 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.311389G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311389G>T Locations: - p.Cys87Phe (Ensembl:ENST00000618970) - c.260G>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1029082968 | 88 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000005.10:g.311391A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311391A>G Locations: - p.Ile88Val (Ensembl:ENST00000618970) - c.262A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53779996 rs371288200 | 89 | V>I | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000005.10:g.311394G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311394G>A Locations: - p.Val89Ile (Ensembl:ENST00000618970) - c.265G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1156261478 | 91 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.311400C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311400C>T Locations: - p.Gln91Ter (Ensembl:ENST00000618970) - c.271C>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1294369854 | 91 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.311402G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.311402G>T Locations: - p.Q91H (NCI-TCGA:ENST00000618970) - p.Gln91His (Ensembl:ENST00000618970) - c.273G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs201782998 | 92 | R>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000005.10:g.314418G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314418G>A Locations: - p.Arg92Lys (Ensembl:ENST00000618970) - c.275G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs2126790073 | 93 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.314422G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314422G>T Locations: - p.Leu93Phe (Ensembl:ENST00000618970) - c.279G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV106371370 | 93 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.314420T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.314420T>A Locations: - p.Leu93Met (cosmic curated:ENST00000618970) - c.277T>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs774240050 | 93 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314421T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314421T>C Locations: - p.Leu93Ser (Ensembl:ENST00000618970) - c.278T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs761008685 | 94 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314424C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314424C>T Locations: - p.Thr94Met (Ensembl:ENST00000618970) - c.281C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1741137712 | 95 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.314427A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314427A>G Locations: - p.Asp95Gly (Ensembl:ENST00000618970) - c.284A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741137534 | 95 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314426G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314426G>C Locations: - p.Asp95His (Ensembl:ENST00000618970) - c.283G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741137534 | 95 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000005.10:g.314426G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314426G>A Locations: - p.Asp95Asn (Ensembl:ENST00000618970) - c.283G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1437589086 | 96 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.314431A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314431A>G Locations: - p.Ile96Met (Ensembl:ENST00000618970) - c.288A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs909500893 | 96 | I>V | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000005.10:g.314429A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314429A>G Locations: - p.Ile96Val (Ensembl:ENST00000618970) - c.286A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV104591700 | 98 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.314436G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.314436G>A Locations: - p.Arg98Lys (cosmic curated:ENST00000618970) - c.293G>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53781121 rs201011657 | 99 | R>C | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000005.10:g.314438C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314438C>T Locations: - p.Arg99Cys (Ensembl:ENST00000618970) - c.295C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
COSV53776462 rs139334790 | 99 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000005.10:g.314439G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314439G>A Locations: - p.R99H (NCI-TCGA:ENST00000618970) - p.Arg99His (Ensembl:ENST00000618970) - c.296G>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs139334790 | 99 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.314439G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314439G>T Locations: - p.Arg99Leu (Ensembl:ENST00000618970) - c.296G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs201011657 | 99 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.314438C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314438C>A Locations: - p.Arg99Ser (Ensembl:ENST00000618970) - c.295C>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1452552006 | 100 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000005.10:g.314441T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314441T>C Locations: - p.Tyr100His (Ensembl:ENST00000618970) - c.298T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs149412009 | 101 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000005.10:g.314444G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314444G>A Locations: - p.D101N (NCI-TCGA:ENST00000618970) - p.Asp101Asn (Ensembl:ENST00000618970) - c.301G>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs763389359 | 102 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314448C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314448C>T Locations: - p.Thr102Met (Ensembl:ENST00000618970) - c.305C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs751964638 | 103 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.314450G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314450G>C Locations: - p.Asp103His (Ensembl:ENST00000618970) - c.307G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs751964638 | 103 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.314450G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314450G>A Locations: - p.Asp103Asn (Ensembl:ENST00000618970) - c.307G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53777435 | 104 | Q>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.314454A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.314454A>G Locations: - p.Gln104Arg (cosmic curated:ENST00000618970) - c.311A>G (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs144783509 | 105 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314458C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314458C>A Locations: - p.Asp105Glu (Ensembl:ENST00000618970) - c.315C>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741140136 | 105 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314457A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314457A>G Locations: - p.Asp105Gly (Ensembl:ENST00000618970) - c.314A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53775886 | 105 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.314456G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.314456G>A Locations: - p.Asp105Asn (cosmic curated:ENST00000618970) - c.313G>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1233702405 | 106 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314460G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314460G>C Locations: - p.Gly106Ala (Ensembl:ENST00000618970) - c.317G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741140624 | 106 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314459G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314459G>C Locations: - p.Gly106Arg (Ensembl:ENST00000618970) - c.316G>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741140624 | 106 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000005.10:g.314459G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314459G>A Locations: - p.Gly106Ser (Ensembl:ENST00000618970) - c.316G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1233702405 | 106 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314460G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314460G>T Locations: - p.Gly106Val (Ensembl:ENST00000618970) - c.317G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372664 | 107 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.314463G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.314463G>A Locations: - p.Trp107Ter (cosmic curated:ENST00000618970) - c.320G>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs2126790240 | 107 | W>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.314463G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314463G>T Locations: - p.Trp107Leu (Ensembl:ENST00000618970) - c.320G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs369618664 | 107 | W>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.314462T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314462T>C Locations: - p.Trp107Arg (Ensembl:ENST00000618970) - c.319T>C (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1741141429 | 109 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.314469A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314469A>G Locations: - p.Gln109Arg (Ensembl:ENST00000618970) - c.326A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1407999951 | 111 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000005.10:g.314475C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314475C>T Locations: - p.S111L (NCI-TCGA:ENST00000618970) - p.Ser111Leu (Ensembl:ENST00000618970) - c.332C>T (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs1407999951 | 111 | S>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314475C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314475C>G Locations: - p.Ser111Trp (Ensembl:ENST00000618970) - c.332C>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV99372849 rs370878298 | 113 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00002389 (gnomAD) Accession: NC_000005.10:g.314480G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314480G>A Locations: - p.E113K (NCI-TCGA:ENST00000618970) - p.Glu113Lys (Ensembl:ENST00000618970) - c.337G>A (Ensembl:ENST00000618970) Source type: large scale study | |||||||
COSV53775818 | 117 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.314492T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.314492T>A Locations: - p.Ser117Thr (cosmic curated:ENST00000618970) - c.349T>A (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1560868344 | 118 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314496T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314496T>C Locations: - p.Met118Thr (Ensembl:ENST00000618970) - c.353T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs138896105 | 118 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000005.10:g.314495A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314495A>G Locations: - p.M118V (NCI-TCGA:ENST00000618970) - p.Met118Val (Ensembl:ENST00000618970) - c.352A>G (Ensembl:ENST00000618970) Source type: large scale study | |||||||
rs770951720 | 119 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.314498G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314498G>A Locations: - p.Val119Ile (Ensembl:ENST00000618970) - c.355G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741143185 | 120 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.314502T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314502T>C Locations: - p.Phe120Ser (Ensembl:ENST00000618970) - c.359T>C (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1308659459 | 120 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.314501T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314501T>G Locations: - p.Phe120Val (Ensembl:ENST00000618970) - c.358T>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs778962868 | 121 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.314504A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314504A>G Locations: - p.Ser121Gly (Ensembl:ENST00000618970) - c.361A>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741143543 | 121 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000005.10:g.314505G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314505G>A Locations: - p.Ser121Asn (Ensembl:ENST00000618970) - c.362G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs1741143715 | 122 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.314509C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314509C>G Locations: - p.Ile122Met (Ensembl:ENST00000618970) - c.366C>G (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV53781747 | 123 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.314511T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.314511T>C Locations: - p.Val123Ala (cosmic curated:ENST00000618970) - c.368T>C (cosmic curated:ENST00000618970) Source type: large scale study Cross-references: | |||||||
COSV107297918 rs745705216 | 123 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.000003985 (gnomAD) Accession: NC_000005.10:g.314510G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314510G>A Locations: - p.V123I (NCI-TCGA:ENST00000618970) - p.Val123Ile (Ensembl:ENST00000618970) - c.367G>A (Ensembl:ENST00000618970) Source type: large scale study Cross-references: | |||||||
rs745705216 | 123 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.314510G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 5p15.33 Genomic location: NC_000005.10:g.314510G>T Locations: - p.Val123Leu (Ensembl:ENST00000618970) - c.367G>T (Ensembl:ENST00000618970) Source type: large scale study Cross-references: |