P13236 · CCL4_HUMAN
- ProteinC-C motif chemokine 4
- GeneCCL4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
TCGA novel | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.838) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36103906A>C, NC_000017.11:g.36103908G>A Consequence type: - Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103906A>C, NC_000017.11:g.36103908G>A Locations: - c.1A>C (NCI-TCGA:ENST00000615863) - p.M1? (NCI-TCGA:ENST00000615863) - c.3G>A (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs555952117 | 2 | K>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58008G>T, NT_187614.1:g.338832G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58008G>T, NT_187614.1:g.338832G>T Locations: - p.Lys2Asn (Ensembl:ENST00000621600) - c.6G>T (Ensembl:ENST00000621600) - p.Lys2Asn (Ensembl:ENST00000617322) - c.6G>T (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs555952117 | 3 | L>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.36103912C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103912C>T Locations: - p.Leu3Phe (Ensembl:ENST00000615863) - c.7C>T (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs2067138830 | 3 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.338834T>G, NT_187661.1:g.58010T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338834T>G, NT_187661.1:g.58010T>G Locations: - p.Leu3Arg (Ensembl:ENST00000617322) - c.8T>G (Ensembl:ENST00000617322) - p.Leu3Arg (Ensembl:ENST00000621600) - c.8T>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs758412463 | 4 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187614.1:g.338838C>A, NT_187661.1:g.58014C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NT_187614.1:g.338838C>A, NT_187661.1:g.58014C>A Locations: - p.Cys4Ter (Ensembl:ENST00000617322) - c.12C>A (Ensembl:ENST00000617322) - p.Cys4Ter (Ensembl:ENST00000621600) - c.12C>A (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs199619169 | 4 | C>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.36103917C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103917C>A Locations: - p.Cys4Ter (Ensembl:ENST00000615863) - c.12C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs199619169 | 4 | C>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.33) Somatic: No Accession: NT_187614.1:g.338837G>T, NT_187661.1:g.58013G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338837G>T, NT_187661.1:g.58013G>T Locations: - p.Cys4Phe (Ensembl:ENST00000617322) - c.11G>T (Ensembl:ENST00000617322) - p.Cys4Phe (Ensembl:ENST00000621600) - c.11G>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs199619169 | 4 | C>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) - PolyPhen: benign (0.025) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.36103917C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103917C>G Locations: - p.C4W (NCI-TCGA:ENST00000615863) - p.Cys4Trp (Ensembl:ENST00000615863) - c.12C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs199619169 | 4 | C>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.47) Somatic: No Accession: NT_187661.1:g.58013G>A, NT_187614.1:g.338837G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58013G>A, NT_187614.1:g.338837G>A Locations: - p.Cys4Tyr (Ensembl:ENST00000621600) - c.11G>A (Ensembl:ENST00000621600) - p.Cys4Tyr (Ensembl:ENST00000617322) - c.11G>A (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs149488954 | 5 | V>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NT_187661.1:g.58016T>C, NT_187614.1:g.338840T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58016T>C, NT_187614.1:g.338840T>C Locations: - p.Val5Ala (Ensembl:ENST00000621600) - c.14T>C (Ensembl:ENST00000621600) - p.Val5Ala (Ensembl:ENST00000617322) - c.14T>C (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs149488954 | 5 | V>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58016T>A, NT_187614.1:g.338840T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58016T>A, NT_187614.1:g.338840T>A Locations: - p.Val5Glu (Ensembl:ENST00000621600) - c.14T>A (Ensembl:ENST00000621600) - p.Val5Glu (Ensembl:ENST00000617322) - c.14T>A (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs758412463 | 5 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.36103918G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103918G>A Locations: - p.Val5Met (Ensembl:ENST00000615863) - c.13G>A (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs1408470771 | 6 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.36103921A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103921A>G Locations: - p.Thr6Ala (Ensembl:ENST00000615863) - c.16A>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1408470771 | 6 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.36103921A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103921A>C Locations: - p.Thr6Pro (Ensembl:ENST00000615863) - c.16A>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs146515425 | 8 | L>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58025T>C, NT_187614.1:g.338849T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58025T>C, NT_187614.1:g.338849T>C Locations: - p.Leu8Pro (Ensembl:ENST00000621600) - c.23T>C (Ensembl:ENST00000621600) - p.Leu8Pro (Ensembl:ENST00000617322) - c.23T>C (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs146515425 | 8 | L>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.338849T>A, NT_187661.1:g.58025T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338849T>A, NT_187661.1:g.58025T>A Locations: - p.Leu8Gln (Ensembl:ENST00000617322) - c.23T>A (Ensembl:ENST00000617322) - p.Leu8Gln (Ensembl:ENST00000621600) - c.23T>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
TCGA novel | 8 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36103928T>G Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103928T>G Locations: - c.23T>G (NCI-TCGA:ENST00000615863) - p.L8R (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs779705125 | 9 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36103931C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103931C>T Locations: - p.Ser9Phe (Ensembl:ENST00000615863) - c.26C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
TCGA novel | 10 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.36103933C>G Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103933C>G Locations: - c.28C>G (NCI-TCGA:ENST00000615863) - p.L10V (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1426843671 | 11 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36103936C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103936C>T Locations: - p.Leu11Phe (Ensembl:ENST00000615863) - c.31C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067139217 | 12 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NT_187614.1:g.338860A>C, NT_187661.1:g.58036A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338860A>C, NT_187661.1:g.58036A>C Locations: - p.Met12Leu (Ensembl:ENST00000617322) - c.34A>C (Ensembl:ENST00000617322) - p.Met12Leu (Ensembl:ENST00000621600) - c.34A>C (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1049752 | 12 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.36103939A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103939A>C Locations: - p.Met12Leu (Ensembl:ENST00000615863) - c.34A>C (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs2067139217 | 12 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.36103940T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103940T>C Locations: - p.Met12Thr (Ensembl:ENST00000615863) - c.35T>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
VAR_048702 rs1049752 | 12 | M>V | UniProt ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.36103939A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103939A>G Locations: - p.Met12Val (UniProt:P13236) Source type: mixed Cross-references: | |||||||
rs925364153 | 13 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.338864T>C, NT_187661.1:g.58040T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338864T>C, NT_187661.1:g.58040T>C Locations: - p.Leu13Pro (Ensembl:ENST00000617322) - c.38T>C (Ensembl:ENST00000617322) - p.Leu13Pro (Ensembl:ENST00000621600) - c.38T>C (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs796985809 | 15 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.36103949C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103949C>A Locations: - p.Ala15Asp (Ensembl:ENST00000615863) - c.44C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067139309 | 15 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.08) Somatic: No Accession: NT_187661.1:g.58046C>G, NT_187614.1:g.338870C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58046C>G, NT_187614.1:g.338870C>G Locations: - p.Ala15Gly (Ensembl:ENST00000621600) - c.44C>G (Ensembl:ENST00000621600) - p.Ala15Gly (Ensembl:ENST00000617322) - c.44C>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs796985809 | 15 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.13) Somatic: No Accession: NT_187661.1:g.58045G>T, NT_187614.1:g.338869G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58045G>T, NT_187614.1:g.338869G>T Locations: - p.Ala15Ser (Ensembl:ENST00000621600) - c.43G>T (Ensembl:ENST00000621600) - p.Ala15Ser (Ensembl:ENST00000617322) - c.43G>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
TCGA novel rs796985809 | 15 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.22) - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.36103948G>A, NT_187614.1:g.338869G>A, NT_187661.1:g.58045G>A Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103948G>A, NT_187614.1:g.338869G>A, NT_187661.1:g.58045G>A Locations: - c.43G>A (NCI-TCGA:ENST00000615863) - p.A15T (NCI-TCGA:ENST00000615863) - p.Ala15Thr (Ensembl:ENST00000617322) - c.43G>A (Ensembl:ENST00000617322) - p.Ala15Thr (Ensembl:ENST00000621600) - c.43G>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel rs796985809 | 15 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.26) - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.36103949C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103949C>T Locations: - p.A15V (NCI-TCGA:ENST00000615863) - p.Ala15Val (Ensembl:ENST00000615863) - c.44C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 16 | A>C | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.36103949_36103950insG Consequence type: frameshift Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103949_36103950insG Locations: - c.44_45insG (NCI-TCGA:ENST00000615863) - p.A16Cfs*38 (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs370817313 | 16 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.36103951G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103951G>A Locations: - p.Ala16Thr (Ensembl:ENST00000615863) - c.46G>A (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs62079739 | 16 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187614.1:g.338873C>T, NT_187661.1:g.58049C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338873C>T, NT_187661.1:g.58049C>T Locations: - p.Ala16Val (Ensembl:ENST00000617322) - c.47C>T (Ensembl:ENST00000617322) - p.Ala16Val (Ensembl:ENST00000621600) - c.47C>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067139369 | 17 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000017.11:g.36103954T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103954T>C Locations: - p.Phe17Leu (Ensembl:ENST00000615863) - c.49T>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067139427 | 18 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36103958G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103958G>T Locations: - p.Cys18Phe (Ensembl:ENST00000615863) - c.53G>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs368788496 | 18 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.394) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36103957T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103957T>C Locations: - p.Cys18Arg (Ensembl:ENST00000615863) - c.52T>C (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs865904526 | 18 | C>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187614.1:g.338880C>G, NT_187661.1:g.58056C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338880C>G, NT_187661.1:g.58056C>G Locations: - p.Cys18Trp (Ensembl:ENST00000617322) - c.54C>G (Ensembl:ENST00000617322) - p.Cys18Trp (Ensembl:ENST00000621600) - c.54C>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs865904526 | 19 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.36103960T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103960T>G Locations: - p.Ser19Ala (Ensembl:ENST00000615863) - c.55T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs865904526 | 19 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.36103960T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103960T>C Locations: - p.Ser19Pro (Ensembl:ENST00000615863) - c.55T>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
VAR_048703 rs1130750 | 20 | P>L | UniProt 1000Genomes ExAC dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.36103964C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103964C>T Locations: - p.Pro20Leu (UniProt:P13236) Source type: mixed Cross-references: | |||||||
rs2067139518 | 20 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.21) Somatic: No Accession: NT_187661.1:g.58061C>G, NT_187614.1:g.338885C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58061C>G, NT_187614.1:g.338885C>G Locations: - p.Pro20Arg (Ensembl:ENST00000621600) - c.59C>G (Ensembl:ENST00000621600) - p.Pro20Arg (Ensembl:ENST00000617322) - c.59C>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs1130750 | 20 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.26) Somatic: No Accession: NT_187661.1:g.58060C>T, NT_187614.1:g.338884C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58060C>T, NT_187614.1:g.338884C>T Locations: - p.Pro20Ser (Ensembl:ENST00000621600) - c.58C>T (Ensembl:ENST00000621600) - p.Pro20Ser (Ensembl:ENST00000617322) - c.58C>T (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs1130755 | 21 | A>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187661.1:g.58064C>A, NT_187614.1:g.338888C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58064C>A, NT_187614.1:g.338888C>A Locations: - p.Ala21Glu (Ensembl:ENST00000621600) - c.62C>A (Ensembl:ENST00000621600) - p.Ala21Glu (Ensembl:ENST00000617322) - c.62C>A (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs143966312 | 21 | A>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.18) Somatic: No Accession: NT_187614.1:g.338887G>T, NT_187661.1:g.58063G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338887G>T, NT_187661.1:g.58063G>T Locations: - p.Ala21Ser (Ensembl:ENST00000617322) - c.61G>T (Ensembl:ENST00000617322) - p.Ala21Ser (Ensembl:ENST00000621600) - c.61G>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs143966312 | 21 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.97) Somatic: No Accession: NC_000017.11:g.36103967C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103967C>T Locations: - p.Ala21Val (Ensembl:ENST00000615863) - c.62C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs556935273 | 22 | L>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.36103970T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103970T>C Locations: - p.Leu22Pro (Ensembl:ENST00000615863) - c.65T>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs776854056 | 22 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated (0.35) Somatic: No Accession: NT_187614.1:g.338891T>G, NT_187661.1:g.58067T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338891T>G, NT_187661.1:g.58067T>G Locations: - p.Leu22Arg (Ensembl:ENST00000617322) - c.65T>G (Ensembl:ENST00000617322) - p.Leu22Arg (Ensembl:ENST00000621600) - c.65T>G (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs2067139635 | 22 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000017.11:g.36103969C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103969C>G Locations: - p.Leu22Val (Ensembl:ENST00000615863) - c.64C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067139734 | 23 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.36103972T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103972T>G Locations: - p.Ser23Ala (Ensembl:ENST00000615863) - c.67T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs765673337 | 24 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36103976C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103976C>A Locations: - p.Ala24Glu (Ensembl:ENST00000615863) - c.71C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs765673337 | 24 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.05) Somatic: No Accession: NT_187661.1:g.58072G>T, NT_187614.1:g.338896G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58072G>T, NT_187614.1:g.338896G>T Locations: - p.Ala24Ser (Ensembl:ENST00000621600) - c.70G>T (Ensembl:ENST00000621600) - p.Ala24Ser (Ensembl:ENST00000617322) - c.70G>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs1375811733 | 24 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.36103975G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103975G>T Locations: - p.Ala24Ser (Ensembl:ENST00000615863) - c.70G>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs765673337 | 24 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187614.1:g.338896G>A, NT_187661.1:g.58072G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.338896G>A, NT_187661.1:g.58072G>A Locations: - p.Ala24Thr (Ensembl:ENST00000617322) - c.70G>A (Ensembl:ENST00000617322) - p.Ala24Thr (Ensembl:ENST00000621600) - c.70G>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs765673337 | 24 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.36103976C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103976C>T Locations: - p.Ala24Val (Ensembl:ENST00000615863) - c.71C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1568571972 | 25 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187661.1:g.58075C>G, NT_187614.1:g.338899C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58075C>G, NT_187614.1:g.338899C>G Locations: - p.Pro25Ala (Ensembl:ENST00000621600) - c.73C>G (Ensembl:ENST00000621600) - p.Pro25Ala (Ensembl:ENST00000617322) - c.73C>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs1568571972 | 25 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36103979C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103979C>G Locations: - p.Pro25Arg (Ensembl:ENST00000615863) - c.74C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1272473221 | 26 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NT_187614.1:g.339450G>A, NT_187661.1:g.58626G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339450G>A, NT_187661.1:g.58626G>A Locations: - p.Met26Ile (Ensembl:ENST00000617322) - c.78G>A (Ensembl:ENST00000617322) - p.Met26Ile (Ensembl:ENST00000621600) - c.78G>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1483511631 | 26 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000017.11:g.36104529G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104529G>A Locations: - p.Met26Ile (Ensembl:ENST00000615863) - c.78G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1483511631 | 26 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.05) Somatic: No Accession: NT_187661.1:g.58625T>A, NT_187614.1:g.339449T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58625T>A, NT_187614.1:g.339449T>A Locations: - p.Met26Lys (Ensembl:ENST00000621600) - c.77T>A (Ensembl:ENST00000621600) - p.Met26Lys (Ensembl:ENST00000617322) - c.77T>A (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs150142971 | 26 | M>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000017.11:g.36103981A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103981A>T Locations: - p.Met26Leu (Ensembl:ENST00000615863) - c.76A>T (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs758405029 | 26 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.36104528T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104528T>C Locations: - p.Met26Thr (Ensembl:ENST00000615863) - c.77T>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs150142971 | 26 | M>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000017.11:g.36103981A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36103981A>G Locations: - p.Met26Val (Ensembl:ENST00000615863) - c.76A>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs1272473221 | 27 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.36104530G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104530G>A Locations: - p.Gly27Ser (Ensembl:ENST00000615863) - c.79G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1416342187 | 28 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.36104534C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104534C>G Locations: - p.Ser28Ter (Ensembl:ENST00000615863) - c.83C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1416342187 | 28 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.613) - SIFT: tolerated (0.71) Somatic: No Accession: NT_187661.1:g.58630T>G, NT_187614.1:g.339454T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58630T>G, NT_187614.1:g.339454T>G Locations: - p.Ser28Ala (Ensembl:ENST00000621600) - c.82T>G (Ensembl:ENST00000621600) - p.Ser28Ala (Ensembl:ENST00000617322) - c.82T>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs916670012 | 30 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187661.1:g.58636C>G, NT_187614.1:g.339460C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58636C>G, NT_187614.1:g.339460C>G Locations: - p.Pro30Ala (Ensembl:ENST00000621600) - c.88C>G (Ensembl:ENST00000621600) - p.Pro30Ala (Ensembl:ENST00000617322) - c.88C>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs916670012 | 30 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36104540C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104540C>G Locations: - p.Pro30Arg (Ensembl:ENST00000615863) - c.89C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1250692496 | 30 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.36104539C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104539C>T Locations: - p.Pro30Ser (Ensembl:ENST00000615863) - c.88C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
TCGA novel | 31 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104542C>T Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104542C>T Locations: - c.91C>T (NCI-TCGA:ENST00000615863) - p.P31S (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs777786306 | 32 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187614.1:g.339467C>T, NT_187661.1:g.58643C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339467C>T, NT_187661.1:g.58643C>T Locations: - p.Thr32Ile (Ensembl:ENST00000617322) - c.95C>T (Ensembl:ENST00000617322) - p.Thr32Ile (Ensembl:ENST00000621600) - c.95C>T (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs777786306 | 32 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187614.1:g.339467C>G, NT_187661.1:g.58643C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339467C>G, NT_187661.1:g.58643C>G Locations: - p.Thr32Ser (Ensembl:ENST00000617322) - c.95C>G (Ensembl:ENST00000617322) - p.Thr32Ser (Ensembl:ENST00000621600) - c.95C>G (Ensembl:ENST00000621600) Source type: large scale study | |||||||
TCGA novel | 33 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000017.11:g.36104548G>T Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104548G>T Locations: - c.97G>T (NCI-TCGA:ENST00000615863) - p.A33S (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs751043350 | 33 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: tolerated (0.08) - PolyPhen: benign (0.011) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00004801 (gnomAD) Accession: NC_000017.11:g.36104548G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104548G>A Locations: - p.A33T (NCI-TCGA:ENST00000615863) - p.Ala33Thr (Ensembl:ENST00000615863) - c.97G>A (Ensembl:ENST00000615863) Source type: large scale study | |||||||
TCGA novel | 33 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.36104549C>T Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104549C>T Locations: - c.98C>T (NCI-TCGA:ENST00000615863) - p.A33V (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 34 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104552G>T Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104552G>T Locations: - c.101G>T (NCI-TCGA:ENST00000615863) - p.C34F (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2067144183 | 34 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.339472T>A, NT_187661.1:g.58648T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339472T>A, NT_187661.1:g.58648T>A Locations: - p.Cys34Ser (Ensembl:ENST00000617322) - c.100T>A (Ensembl:ENST00000617322) - p.Cys34Ser (Ensembl:ENST00000621600) - c.100T>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067144215 | 34 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104553C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104553C>G Locations: - p.Cys34Trp (Ensembl:ENST00000615863) - c.102C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067144183 | 34 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104552G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104552G>A Locations: - p.Cys34Tyr (Ensembl:ENST00000615863) - c.101G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1380152754 | 35 | C>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.339476G>T, NT_187661.1:g.58652G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339476G>T, NT_187661.1:g.58652G>T Locations: - p.Cys35Phe (Ensembl:ENST00000617322) - c.104G>T (Ensembl:ENST00000617322) - p.Cys35Phe (Ensembl:ENST00000621600) - c.104G>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067144262 | 35 | C>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.339477C>G, NT_187661.1:g.58653C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339477C>G, NT_187661.1:g.58653C>G Locations: - p.Cys35Trp (Ensembl:ENST00000617322) - c.105C>G (Ensembl:ENST00000617322) - p.Cys35Trp (Ensembl:ENST00000621600) - c.105C>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
TCGA novel | 36 | F>S | 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_000017.11:g.36104558T>C Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104558T>C Locations: - c.107T>C (NCI-TCGA:ENST00000615863) - p.F36S (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2067144262 | 36 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36104557T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104557T>G Locations: - p.Phe36Val (Ensembl:ENST00000615863) - c.106T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs756740495 | 37 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.613) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.339481T>G, NT_187661.1:g.58657T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339481T>G, NT_187661.1:g.58657T>G Locations: - p.Ser37Ala (Ensembl:ENST00000617322) - c.109T>G (Ensembl:ENST00000617322) - p.Ser37Ala (Ensembl:ENST00000621600) - c.109T>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs756740495 | 37 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104561C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104561C>G Locations: - p.Ser37Cys (Ensembl:ENST00000615863) - c.110C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs756740495 | 37 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.36104561C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104561C>T Locations: - p.Ser37Phe (Ensembl:ENST00000615863) - c.110C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs772377163 | 38 | Y>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.36104564dup Codon: TAC/TAAC Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104564dup Locations: - p.Tyr38Ter (Ensembl:ENST00000615863) - c.113dup (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs376875441 | 38 | Y>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104563T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104563T>G Locations: - p.Tyr38Asp (Ensembl:ENST00000615863) - c.112T>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs770188150 | 38 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187661.1:g.58661A>T, NT_187614.1:g.339485A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58661A>T, NT_187614.1:g.339485A>T Locations: - p.Tyr38Phe (Ensembl:ENST00000621600) - c.113A>T (Ensembl:ENST00000621600) - p.Tyr38Phe (Ensembl:ENST00000617322) - c.113A>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs376875441 | 38 | Y>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36104563T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104563T>C Locations: - p.Tyr38His (Ensembl:ENST00000615863) - c.112T>C (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs376875441 | 38 | Y>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36104563T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104563T>A Locations: - p.Tyr38Asn (Ensembl:ENST00000615863) - c.112T>A (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs1719146 | 39 | T>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.57) Somatic: No Accession: NT_187661.1:g.58664C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58664C>T Locations: - p.Thr39Ile (Ensembl:ENST00000621600) - c.116C>T (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs1719146 | 39 | T>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58664C>A, NT_187614.1:g.339488C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58664C>A, NT_187614.1:g.339488C>A Locations: - p.Thr39Asn (Ensembl:ENST00000621600) - c.116C>A (Ensembl:ENST00000621600) - p.Thr39Asn (Ensembl:ENST00000617322) - c.116C>A (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs774792725 | 40 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.09) Somatic: No Accession: NT_187661.1:g.58667C>A, NT_187614.1:g.339491C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58667C>A, NT_187614.1:g.339491C>A Locations: - p.Ala40Glu (Ensembl:ENST00000621600) - c.119C>A (Ensembl:ENST00000621600) - p.Ala40Glu (Ensembl:ENST00000617322) - c.119C>A (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs529554188 | 40 | A>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.36104570C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104570C>G Locations: - p.Ala40Gly (Ensembl:ENST00000615863) - c.119C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs529554188 | 40 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NT_187614.1:g.339490G>T, NT_187661.1:g.58666G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339490G>T, NT_187661.1:g.58666G>T Locations: - p.Ala40Ser (Ensembl:ENST00000617322) - c.118G>T (Ensembl:ENST00000617322) - p.Ala40Ser (Ensembl:ENST00000621600) - c.118G>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs200881527 | 40 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.36104569G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104569G>T Locations: - p.Ala40Ser (Ensembl:ENST00000615863) - c.118G>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs200881527 | 40 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) - PolyPhen: benign (0.007) - SIFT: tolerated (0.14) Somatic: No Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000017.11:g.36104569G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104569G>A Locations: - p.A40T (NCI-TCGA:ENST00000615863) - p.Ala40Thr (Ensembl:ENST00000615863) - c.118G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs529554188 | 40 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.36104570C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104570C>T Locations: - p.Ala40Val (Ensembl:ENST00000615863) - c.119C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs761832053 | 41 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.11) Somatic: No Accession: NT_187661.1:g.58670G>A, NT_187614.1:g.339494G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58670G>A, NT_187614.1:g.339494G>A Locations: - p.Arg41Lys (Ensembl:ENST00000621600) - c.122G>A (Ensembl:ENST00000621600) - p.Arg41Lys (Ensembl:ENST00000617322) - c.122G>A (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs930116593 | 42 | K>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NT_187614.1:g.339496A>T, NT_187661.1:g.58672A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_187614.1:g.339496A>T, NT_187661.1:g.58672A>T Locations: - p.Lys42Ter (Ensembl:ENST00000617322) - c.124A>T (Ensembl:ENST00000617322) - p.Lys42Ter (Ensembl:ENST00000621600) - c.124A>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs930116593 | 42 | K>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104576A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104576A>T Locations: - p.Lys42Met (Ensembl:ENST00000615863) - c.125A>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs149276903 | 42 | K>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.339498G>T, NT_187661.1:g.58674G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339498G>T, NT_187661.1:g.58674G>T Locations: - p.Lys42Asn (Ensembl:ENST00000617322) - c.126G>T (Ensembl:ENST00000617322) - p.Lys42Asn (Ensembl:ENST00000621600) - c.126G>T (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs149276903 | 43 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104578C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104578C>T Locations: - p.Leu43Phe (Ensembl:ENST00000615863) - c.127C>T (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs773355755 | 43 | L>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104579T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104579T>A Locations: - p.Leu43His (Ensembl:ENST00000615863) - c.128T>A (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs773355755 | 43 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (1) Somatic: No Accession: NT_187614.1:g.339499C>A, NT_187661.1:g.58675C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339499C>A, NT_187661.1:g.58675C>A Locations: - p.Leu43Ile (Ensembl:ENST00000617322) - c.127C>A (Ensembl:ENST00000617322) - p.Leu43Ile (Ensembl:ENST00000621600) - c.127C>A (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs773355755 | 43 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104579T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104579T>G Locations: - p.Leu43Arg (Ensembl:ENST00000615863) - c.128T>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs149276903 | 43 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.36104578C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104578C>G Locations: - p.Leu43Val (Ensembl:ENST00000615863) - c.127C>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs773355755 | 43 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187614.1:g.339499C>G, NT_187661.1:g.58675C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339499C>G, NT_187661.1:g.58675C>G Locations: - p.Leu43Val (Ensembl:ENST00000617322) - c.127C>G (Ensembl:ENST00000617322) - p.Leu43Val (Ensembl:ENST00000621600) - c.127C>G (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs200124119 | 44 | P>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104582C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104582C>A Locations: - p.Pro44His (Ensembl:ENST00000615863) - c.131C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs200124119 | 44 | P>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58678C>A, NT_187614.1:g.339502C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58678C>A, NT_187614.1:g.339502C>A Locations: - p.Pro44Thr (Ensembl:ENST00000621600) - c.130C>A (Ensembl:ENST00000621600) - p.Pro44Thr (Ensembl:ENST00000617322) - c.130C>A (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs528656426 | 45 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187614.1:g.339505C>T, NT_187661.1:g.58681C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339505C>T, NT_187661.1:g.58681C>T Locations: - p.Arg45Cys (Ensembl:ENST00000617322) - c.133C>T (Ensembl:ENST00000617322) - p.Arg45Cys (Ensembl:ENST00000621600) - c.133C>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs560093309 | 45 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36104584C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104584C>T Locations: - p.Arg45Cys (Ensembl:ENST00000615863) - c.133C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1211966838 | 45 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187614.1:g.339506G>A, NT_187661.1:g.58682G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339506G>A, NT_187661.1:g.58682G>A Locations: - p.Arg45His (Ensembl:ENST00000617322) - c.134G>A (Ensembl:ENST00000617322) - p.Arg45His (Ensembl:ENST00000621600) - c.134G>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs528656426 | 45 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104585G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104585G>A Locations: - p.Arg45His (Ensembl:ENST00000615863) - c.134G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs528656426 | 45 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.36104585G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104585G>T Locations: - p.Arg45Leu (Ensembl:ENST00000615863) - c.134G>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs528656426 | 45 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104585G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104585G>C Locations: - p.Arg45Pro (Ensembl:ENST00000615863) - c.134G>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs528656426 | 45 | R>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.339505C>A, NT_187661.1:g.58681C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339505C>A, NT_187661.1:g.58681C>A Locations: - p.Arg45Ser (Ensembl:ENST00000617322) - c.133C>A (Ensembl:ENST00000617322) - p.Arg45Ser (Ensembl:ENST00000621600) - c.133C>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1468630238 | 47 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.36104590T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104590T>C Locations: - p.Phe47Leu (Ensembl:ENST00000615863) - c.139T>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs371362421 | 49 | V>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.15) Somatic: No Accession: NT_187614.1:g.339518T>G, NT_187661.1:g.58694T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339518T>G, NT_187661.1:g.58694T>G Locations: - p.Val49Gly (Ensembl:ENST00000617322) - c.146T>G (Ensembl:ENST00000617322) - p.Val49Gly (Ensembl:ENST00000621600) - c.146T>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067144896 | 50 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187614.1:g.339521A>C, NT_187661.1:g.58697A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339521A>C, NT_187661.1:g.58697A>C Locations: - p.Asp50Ala (Ensembl:ENST00000617322) - c.149A>C (Ensembl:ENST00000617322) - p.Asp50Ala (Ensembl:ENST00000621600) - c.149A>C (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067144896 | 50 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.36104601T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104601T>A Locations: - p.Asp50Glu (Ensembl:ENST00000615863) - c.150T>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1346320550 | 50 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104599G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104599G>C Locations: - p.Asp50His (Ensembl:ENST00000615863) - c.148G>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1293510639 | 50 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104600A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104600A>T Locations: - p.Asp50Val (Ensembl:ENST00000615863) - c.149A>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1346320550 | 50 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104599G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104599G>T Locations: - p.Asp50Tyr (Ensembl:ENST00000615863) - c.148G>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1293510639 | 50 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.339520G>T, NT_187661.1:g.58696G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339520G>T, NT_187661.1:g.58696G>T Locations: - p.Asp50Tyr (Ensembl:ENST00000617322) - c.148G>T (Ensembl:ENST00000617322) - p.Asp50Tyr (Ensembl:ENST00000621600) - c.148G>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067144957 | 51 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.36104604C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104604C>G Locations: - p.Tyr51Ter (Ensembl:ENST00000615863) - c.153C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067144957 | 51 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.339524A>G, NT_187661.1:g.58700A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339524A>G, NT_187661.1:g.58700A>G Locations: - p.Tyr51Cys (Ensembl:ENST00000617322) - c.152A>G (Ensembl:ENST00000617322) - p.Tyr51Cys (Ensembl:ENST00000621600) - c.152A>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs751471947 | 51 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36104603A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104603A>G Locations: - p.Tyr51Cys (Ensembl:ENST00000615863) - c.152A>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs751471947 | 51 | Y>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58699T>G, NT_187614.1:g.339523T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58699T>G, NT_187614.1:g.339523T>G Locations: - p.Tyr51Asp (Ensembl:ENST00000621600) - c.151T>G (Ensembl:ENST00000621600) - p.Tyr51Asp (Ensembl:ENST00000617322) - c.151T>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs1224789693 | 52 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187661.1:g.58704T>A, NT_187614.1:g.339528T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NT_187661.1:g.58704T>A, NT_187614.1:g.339528T>A Locations: - p.Tyr52Ter (Ensembl:ENST00000621600) - c.156T>A (Ensembl:ENST00000621600) - p.Tyr52Ter (Ensembl:ENST00000617322) - c.156T>A (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs780727741 | 52 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.36104607T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104607T>A Locations: - p.Tyr52Ter (Ensembl:ENST00000615863) - c.156T>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs756755581 | 52 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104606A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104606A>G Locations: - p.Tyr52Cys (Ensembl:ENST00000615863) - c.155A>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs756755581 | 52 | Y>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187661.1:g.58702T>G, NT_187614.1:g.339526T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58702T>G, NT_187614.1:g.339526T>G Locations: - p.Tyr52Asp (Ensembl:ENST00000621600) - c.154T>G (Ensembl:ENST00000621600) - p.Tyr52Asp (Ensembl:ENST00000617322) - c.154T>G (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs780727741 | 52 | Y>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.339527A>C, NT_187661.1:g.58703A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339527A>C, NT_187661.1:g.58703A>C Locations: - p.Tyr52Ser (Ensembl:ENST00000617322) - c.155A>C (Ensembl:ENST00000617322) - p.Tyr52Ser (Ensembl:ENST00000621600) - c.155A>C (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067145061 | 53 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187661.1:g.58705G>T, NT_187614.1:g.339529G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_187661.1:g.58705G>T, NT_187614.1:g.339529G>T Locations: - p.Glu53Ter (Ensembl:ENST00000621600) - c.157G>T (Ensembl:ENST00000621600) - p.Glu53Ter (Ensembl:ENST00000617322) - c.157G>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs1224789693 | 53 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.36104608G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104608G>A Locations: - p.Glu53Lys (Ensembl:ENST00000615863) - c.157G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067145061 | 53 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36104609A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104609A>T Locations: - p.Glu53Val (Ensembl:ENST00000615863) - c.158A>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs750097760 | 54 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104612C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104612C>T Locations: - p.Thr54Ile (Ensembl:ENST00000615863) - c.161C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067145137 | 54 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58709C>A, NT_187614.1:g.339533C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58709C>A, NT_187614.1:g.339533C>A Locations: - p.Thr54Asn (Ensembl:ENST00000621600) - c.161C>A (Ensembl:ENST00000621600) - p.Thr54Asn (Ensembl:ENST00000617322) - c.161C>A (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs750097760 | 54 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104612C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104612C>A Locations: - p.Thr54Asn (Ensembl:ENST00000615863) - c.161C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs750097760 | 54 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187661.1:g.58708A>T, NT_187614.1:g.339532A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58708A>T, NT_187614.1:g.339532A>T Locations: - p.Thr54Ser (Ensembl:ENST00000621600) - c.160A>T (Ensembl:ENST00000621600) - p.Thr54Ser (Ensembl:ENST00000617322) - c.160A>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs755772909 | 55 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.02) - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36104614A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104614A>G Locations: - p.S55G (NCI-TCGA:ENST00000615863) - p.Ser55Gly (Ensembl:ENST00000615863) - c.163A>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs779627759 | 55 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58712G>T, NT_187614.1:g.339536G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58712G>T, NT_187614.1:g.339536G>T Locations: - p.Ser55Ile (Ensembl:ENST00000621600) - c.164G>T (Ensembl:ENST00000621600) - p.Ser55Ile (Ensembl:ENST00000617322) - c.164G>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs755772909 | 55 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104614A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104614A>C Locations: - p.Ser55Arg (Ensembl:ENST00000615863) - c.163A>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs3210001 | 56 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.58714A>T, NT_187614.1:g.339538A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58714A>T, NT_187614.1:g.339538A>T Locations: - p.Ser56Cys (Ensembl:ENST00000621600) - c.166A>T (Ensembl:ENST00000621600) - p.Ser56Cys (Ensembl:ENST00000617322) - c.166A>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs3210001 | 56 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36104618G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104618G>T Locations: - p.Ser56Ile (Ensembl:ENST00000615863) - c.167G>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs3210001 | 56 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104618G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104618G>A Locations: - p.Ser56Asn (Ensembl:ENST00000615863) - c.167G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1286008977 | 57 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.36104621T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104621T>C Locations: - p.Leu57Pro (Ensembl:ENST00000615863) - c.170T>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2142076937 | 57 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.85) Somatic: No Accession: NT_187614.1:g.339542T>G, NT_187661.1:g.58718T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339542T>G, NT_187661.1:g.58718T>G Locations: - p.Leu57Arg (Ensembl:ENST00000617322) - c.170T>G (Ensembl:ENST00000617322) - p.Leu57Arg (Ensembl:ENST00000621600) - c.170T>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067145327 | 60 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.36104629C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104629C>T Locations: - p.Gln60Ter (Ensembl:ENST00000615863) - c.178C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs146953505 | 60 | Q>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187614.1:g.339550C>G, NT_187661.1:g.58726C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339550C>G, NT_187661.1:g.58726C>G Locations: - p.Gln60Glu (Ensembl:ENST00000617322) - c.178C>G (Ensembl:ENST00000617322) - p.Gln60Glu (Ensembl:ENST00000621600) - c.178C>G (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs1214925150 | 60 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.339552G>T, NT_187661.1:g.58728G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.339552G>T, NT_187661.1:g.58728G>T Locations: - p.Gln60His (Ensembl:ENST00000617322) - c.180G>T (Ensembl:ENST00000617322) - p.Gln60His (Ensembl:ENST00000621600) - c.180G>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs146953505 | 60 | Q>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36104630A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104630A>G Locations: - p.Gln60Arg (Ensembl:ENST00000615863) - c.179A>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs1214925150 | 61 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.36104632C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104632C>G Locations: - p.Pro61Ala (Ensembl:ENST00000615863) - c.181C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs755299219 | 61 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36104633C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104633C>T Locations: - p.Pro61Leu (Ensembl:ENST00000615863) - c.182C>T (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs755299219 | 61 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187661.1:g.58729C>T, NT_187614.1:g.339553C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.58729C>T, NT_187614.1:g.339553C>T Locations: - p.Pro61Ser (Ensembl:ENST00000621600) - c.181C>T (Ensembl:ENST00000621600) - p.Pro61Ser (Ensembl:ENST00000617322) - c.181C>T (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs1214925150 | 61 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104632C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104632C>T Locations: - p.Pro61Ser (Ensembl:ENST00000615863) - c.181C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
TCGA novel | 64 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36104642T>G Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104642T>G Locations: - c.191T>G (NCI-TCGA:ENST00000615863) - p.V64G (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs137950182 | 64 | V>I | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000017.11:g.36104641G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104641G>A Locations: - p.Val64Ile (Ensembl:ENST00000615863) - c.190G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs137950182 | 64 | V>L | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.36104641G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36104641G>C Locations: - p.Val64Leu (Ensembl:ENST00000615863) - c.190G>C (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1047078448 | 65 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.340149C>G, NT_187661.1:g.59325C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340149C>G, NT_187661.1:g.59325C>G Locations: - p.Phe65Leu (Ensembl:ENST00000617322) - c.195C>G (Ensembl:ENST00000617322) - p.Phe65Leu (Ensembl:ENST00000621600) - c.195C>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1047078448 | 66 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.492) - SIFT: tolerated (0.28) - PolyPhen: benign (0) - SIFT: tolerated (0.95) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000017.11:g.36105229C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105229C>G Locations: - p.Q66E (NCI-TCGA:ENST00000615863) - p.Gln66Glu (Ensembl:ENST00000615863) - c.196C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs771093072 | 67 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36105233C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105233C>T Locations: - p.Thr67Ile (Ensembl:ENST00000615863) - c.200C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs771093072 | 67 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36105233C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105233C>A Locations: - p.Thr67Asn (Ensembl:ENST00000615863) - c.200C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs771093072 | 67 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187661.1:g.59329A>T, NT_187614.1:g.340153A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59329A>T, NT_187614.1:g.340153A>T Locations: - p.Thr67Ser (Ensembl:ENST00000621600) - c.199A>T (Ensembl:ENST00000621600) - p.Thr67Ser (Ensembl:ENST00000617322) - c.199A>T (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs746063217 | 67 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.340154C>G, NT_187661.1:g.59330C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340154C>G, NT_187661.1:g.59330C>G Locations: - p.Thr67Ser (Ensembl:ENST00000617322) - c.200C>G (Ensembl:ENST00000617322) - p.Thr67Ser (Ensembl:ENST00000621600) - c.200C>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067151976 | 68 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36105235A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105235A>G Locations: - p.Lys68Glu (Ensembl:ENST00000615863) - c.202A>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs201503735 | 68 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NT_187614.1:g.340157A>G, NT_187661.1:g.59333A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340157A>G, NT_187661.1:g.59333A>G Locations: - p.Lys68Arg (Ensembl:ENST00000617322) - c.203A>G (Ensembl:ENST00000617322) - p.Lys68Arg (Ensembl:ENST00000621600) - c.203A>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1130760 | 69 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.59337A>T, NT_187614.1:g.340161A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59337A>T, NT_187614.1:g.340161A>T Locations: - p.Arg69Ser (Ensembl:ENST00000621600) - c.207A>T (Ensembl:ENST00000621600) - p.Arg69Ser (Ensembl:ENST00000617322) - c.207A>T (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs1335977277 | 70 | S>C | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.340162A>T, NT_187661.1:g.59338A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340162A>T, NT_187661.1:g.59338A>T Locations: - p.Ser70Cys (Ensembl:ENST00000617322) - c.208A>T (Ensembl:ENST00000617322) - p.Ser70Cys (Ensembl:ENST00000621600) - c.208A>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1130760 | 70 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36105241A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105241A>T Locations: - p.Ser70Cys (Ensembl:ENST00000615863) - c.208A>T (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs1130760 | 70 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.36105241A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105241A>G Locations: - p.Ser70Gly (Ensembl:ENST00000615863) - c.208A>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs1335977277 | 70 | S>I | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.36105242G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105242G>T Locations: - p.Ser70Ile (Ensembl:ENST00000615863) - c.209G>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs546176473 | 70 | S>N | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NT_187614.1:g.340163G>A, NT_187661.1:g.59339G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340163G>A, NT_187661.1:g.59339G>A Locations: - p.Ser70Asn (Ensembl:ENST00000617322) - c.209G>A (Ensembl:ENST00000617322) - p.Ser70Asn (Ensembl:ENST00000621600) - c.209G>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs546176473 | 70 | S>R | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36105243C>A, NC_000017.11:g.36105243C>G Codon: AGC/AGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105243C>A, NC_000017.11:g.36105243C>G Locations: - p.Ser70Arg (Ensembl:ENST00000615863) - c.210C>A (Ensembl:ENST00000615863) - c.210C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs767516104 | 71 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.340165A>G, NT_187661.1:g.59341A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340165A>G, NT_187661.1:g.59341A>G Locations: - p.Lys71Glu (Ensembl:ENST00000617322) - c.211A>G (Ensembl:ENST00000617322) - p.Lys71Glu (Ensembl:ENST00000621600) - c.211A>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs767516104 | 71 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.36105245A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105245A>G Locations: - p.Lys71Arg (Ensembl:ENST00000615863) - c.212A>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs772985242 | 72 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: tolerated (0.51) - PolyPhen: benign (0.01) - SIFT: tolerated (0.4) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000017.11:g.36105247C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105247C>G Locations: - p.Q72E (NCI-TCGA:ENST00000615863) - p.Gln72Glu (Ensembl:ENST00000615863) - c.214C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
TCGA novel | 72 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.765) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.36105249A>C Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105249A>C Locations: - c.216A>C (NCI-TCGA:ENST00000615863) - p.Q72H (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1246572178 | 73 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.36105250G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105250G>A Locations: - p.Val73Ile (Ensembl:ENST00000615863) - c.217G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1049804 | 74 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.340175G>C, NT_187661.1:g.59351G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340175G>C, NT_187661.1:g.59351G>C Locations: - p.Cys74Ser (Ensembl:ENST00000617322) - c.221G>C (Ensembl:ENST00000617322) - p.Cys74Ser (Ensembl:ENST00000621600) - c.221G>C (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs1354387194 | 75 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36105257C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105257C>G Locations: - p.Ala75Gly (Ensembl:ENST00000615863) - c.224C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1049805 | 76 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.05) Somatic: No Accession: NT_187661.1:g.59357A>C, NT_187614.1:g.340181A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59357A>C, NT_187614.1:g.340181A>C Locations: - p.Asp76Ala (Ensembl:ENST00000621600) - c.227A>C (Ensembl:ENST00000621600) - p.Asp76Ala (Ensembl:ENST00000617322) - c.227A>C (Ensembl:ENST00000617322) Source type: large scale study | |||||||
TCGA novel | 77 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36105263C>A Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105263C>A Locations: - c.230C>A (NCI-TCGA:ENST00000615863) - p.P77H (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs566173519 | 77 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36105262C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105262C>T Locations: - p.Pro77Ser (Ensembl:ENST00000615863) - c.229C>T (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs1437446371 | 78 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.36105265A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105265A>G Locations: - p.Ser78Gly (Ensembl:ENST00000615863) - c.232A>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067152306 | 78 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.14) Somatic: No Accession: NT_187614.1:g.340188T>A, NT_187661.1:g.59364T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340188T>A, NT_187661.1:g.59364T>A Locations: - p.Ser78Arg (Ensembl:ENST00000617322) - c.234T>A (Ensembl:ENST00000617322) - p.Ser78Arg (Ensembl:ENST00000621600) - c.234T>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs386796798 | 79 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0) Somatic: No Accession: NT_187661.1:g.59366A>G, NT_187614.1:g.340190A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59366A>G, NT_187614.1:g.340190A>G Locations: - p.Glu79Gly (Ensembl:ENST00000621600) - c.236A>G (Ensembl:ENST00000621600) - p.Glu79Gly (Ensembl:ENST00000617322) - c.236A>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs1049807 | 79 | E>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.340190A>G, NT_187661.1:g.59366A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340190A>G, NT_187661.1:g.59366A>G Locations: - p.Glu79Gly (Ensembl:ENST00000617322) - c.236A>G (Ensembl:ENST00000617322) - p.Glu79Gly (Ensembl:ENST00000621600) - c.236A>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067152306 | 79 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36105268G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105268G>A Locations: - p.Glu79Lys (Ensembl:ENST00000615863) - c.235G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1719152 | 80 | S>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.97) Somatic: No Accession: NC_000017.11:g.36105271T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105271T>G Locations: - p.Ser80Ala (Ensembl:ENST00000615863) - c.238T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1445795208 | 80 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.36105272C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105272C>T Locations: - p.Ser80Phe (Ensembl:ENST00000615863) - c.239C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs386796798 | 80 | S>T | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.36105270_36105271delinsGA Codon: GAATCC/GAGACC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105270_36105271delinsGA Locations: - p.Ser80Thr (Ensembl:ENST00000615863) - c.237_238delinsGA (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
VAR_059211 rs1719152 | 80 | S>T | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.36105271T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105271T>A Locations: - p.Ser80Thr (UniProt:P13236) Source type: mixed Cross-references: | |||||||
rs1183566623 | 80 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.04) Somatic: No Accession: NT_187614.1:g.340193C>A, NT_187661.1:g.59369C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340193C>A, NT_187661.1:g.59369C>A Locations: - p.Ser80Tyr (Ensembl:ENST00000617322) - c.239C>A (Ensembl:ENST00000617322) - p.Ser80Tyr (Ensembl:ENST00000621600) - c.239C>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1428023501 | 81 | W>* | TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.36105275G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105275G>A Locations: - p.Trp81Ter (Ensembl:ENST00000615863) - c.242G>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs753117621 | 81 | W>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36105274T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105274T>G Locations: - p.Trp81Gly (Ensembl:ENST00000615863) - c.241T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1428023501 | 81 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.340195T>A, NT_187661.1:g.59371T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340195T>A, NT_187661.1:g.59371T>A Locations: - p.Trp81Arg (Ensembl:ENST00000617322) - c.241T>A (Ensembl:ENST00000617322) - p.Trp81Arg (Ensembl:ENST00000621600) - c.241T>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs1169133549 | 83 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.36105280C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105280C>T Locations: - p.Gln83Ter (Ensembl:ENST00000615863) - c.247C>T (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
TCGA novel | 84 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.36105285G>T Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105285G>T Locations: - c.252G>T (NCI-TCGA:ENST00000615863) - p.E84D (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs371375580 | 85 | Y>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.36105288C>A Codon: TAC/TAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105288C>A Locations: - p.Tyr85Ter (Ensembl:ENST00000615863) - c.255C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs374631046 | 85 | Y>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NT_187661.1:g.59385C>A, NT_187614.1:g.340209C>A Codon: TAC/TAA Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59385C>A, NT_187614.1:g.340209C>A Locations: - p.Tyr85Ter (Ensembl:ENST00000621600) - c.255C>A (Ensembl:ENST00000621600) - p.Tyr85Ter (Ensembl:ENST00000617322) - c.255C>A (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs371375580 | 85 | Y>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187614.1:g.340208A>T, NT_187661.1:g.59384A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340208A>T, NT_187661.1:g.59384A>T Locations: - p.Tyr85Phe (Ensembl:ENST00000617322) - c.254A>T (Ensembl:ENST00000617322) - p.Tyr85Phe (Ensembl:ENST00000621600) - c.254A>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs374631046 | 86 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.36105289G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105289G>A Locations: - p.Val86Met (Ensembl:ENST00000615863) - c.256G>A (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs745754686 | 87 | Y>* | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.36105294T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105294T>G Locations: - p.Tyr87Ter (Ensembl:ENST00000615863) - c.261T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs745754686 | 87 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187661.1:g.59390A>G, NT_187614.1:g.340214A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59390A>G, NT_187614.1:g.340214A>G Locations: - p.Tyr87Cys (Ensembl:ENST00000621600) - c.260A>G (Ensembl:ENST00000621600) - p.Tyr87Cys (Ensembl:ENST00000617322) - c.260A>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs757459200 | 87 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36105293A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105293A>G Locations: - p.Tyr87Cys (Ensembl:ENST00000615863) - c.260A>G (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs757459200 | 87 | Y>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.37) Somatic: No Accession: NT_187614.1:g.340213T>G, NT_187661.1:g.59389T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340213T>G, NT_187661.1:g.59389T>G Locations: - p.Tyr87Asp (Ensembl:ENST00000617322) - c.259T>G (Ensembl:ENST00000617322) - p.Tyr87Asp (Ensembl:ENST00000621600) - c.259T>G (Ensembl:ENST00000621600) Source type: large scale study | |||||||
rs2067152962 | 88 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.14) Somatic: No Accession: NT_187614.1:g.340218C>A, NT_187661.1:g.59394C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340218C>A, NT_187661.1:g.59394C>A Locations: - p.Asp88Glu (Ensembl:ENST00000617322) - c.264C>A (Ensembl:ENST00000617322) - p.Asp88Glu (Ensembl:ENST00000621600) - c.264C>A (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067152933 | 88 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.340217A>T, NT_187661.1:g.59393A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340217A>T, NT_187661.1:g.59393A>T Locations: - p.Asp88Val (Ensembl:ENST00000617322) - c.263A>T (Ensembl:ENST00000617322) - p.Asp88Val (Ensembl:ENST00000621600) - c.263A>T (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs781405487 | 88 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.36105296A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105296A>T Locations: - p.Asp88Val (Ensembl:ENST00000615863) - c.263A>T (Ensembl:ENST00000615863) Source type: large scale study | |||||||
rs781405487 | 88 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187661.1:g.59392G>T, NT_187614.1:g.340216G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59392G>T, NT_187614.1:g.340216G>T Locations: - p.Asp88Tyr (Ensembl:ENST00000621600) - c.262G>T (Ensembl:ENST00000621600) - p.Asp88Tyr (Ensembl:ENST00000617322) - c.262G>T (Ensembl:ENST00000617322) Source type: large scale study | |||||||
rs2067152962 | 89 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36105298C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105298C>A Locations: - p.Leu89Met (Ensembl:ENST00000615863) - c.265C>A (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs2067152996 | 90 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0) Somatic: No Accession: NT_187614.1:g.340223A>G, NT_187661.1:g.59399A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340223A>G, NT_187661.1:g.59399A>G Locations: - p.Glu90Gly (Ensembl:ENST00000617322) - c.269A>G (Ensembl:ENST00000617322) - p.Glu90Gly (Ensembl:ENST00000621600) - c.269A>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
TCGA novel | 90 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.36105301G>A Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105301G>A Locations: - c.268G>A (NCI-TCGA:ENST00000615863) - p.E90K (NCI-TCGA:ENST00000615863) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1314339369 | 91 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.36105305T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105305T>G Locations: - p.Leu91Arg (Ensembl:ENST00000615863) - c.272T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1314339369 | 91 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187614.1:g.340225C>G, NT_187661.1:g.59401C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_187614.1:g.340225C>G, NT_187661.1:g.59401C>G Locations: - p.Leu91Val (Ensembl:ENST00000617322) - c.271C>G (Ensembl:ENST00000617322) - p.Leu91Val (Ensembl:ENST00000621600) - c.271C>G (Ensembl:ENST00000621600) Source type: large scale study Cross-references: | |||||||
rs2067153020 | 91 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.36105304C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105304C>G Locations: - p.Leu91Val (Ensembl:ENST00000615863) - c.271C>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1598828597 | 92 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187661.1:g.59406C>G, NT_187614.1:g.340230C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_187661.1:g.59406C>G, NT_187614.1:g.340230C>G Locations: - p.Asn92Lys (Ensembl:ENST00000621600) - c.276C>G (Ensembl:ENST00000621600) - p.Asn92Lys (Ensembl:ENST00000617322) - c.276C>G (Ensembl:ENST00000617322) Source type: large scale study Cross-references: | |||||||
rs1598828597 | 93 | *>G | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000017.11:g.36105310T>G Codon: TGA/GGA Consequence type: stop lost Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.36105310T>G Locations: - p.Ter93GlyextTer20 (Ensembl:ENST00000615863) - c.277T>G (Ensembl:ENST00000615863) Source type: large scale study Cross-references: | |||||||
rs1338619576 | 93 | *>W | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NT_187661.1:g.59409delinsGG, NT_187614.1:g.340233delinsGG Codon: TGA/TGGG Consequence type: stop lost Cytogenetic band: Genomic location: NT_187661.1:g.59409delinsGG, NT_187614.1:g.340233delinsGG Locations: - p.Ter93TrpfsTer40 (Ensembl:ENST00000621600) - c.279delinsGG (Ensembl:ENST00000621600) - p.Ter93TrpfsTer40 (Ensembl:ENST00000617322) - c.279delinsGG (Ensembl:ENST00000617322) Source type: large scale study Cross-references: |