Q9H8H0 · NOL11_HUMAN
- ProteinNucleolar protein 11
- GeneNOL11
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids719 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV53522760 COSV53523060 COSV99474827 | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: - Predictions: - PolyPhen: probably damaging (0.924) - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.67717948A>C, NC_000017.11:g.67717949T>C Consequence type: - Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717948A>C, NC_000017.11:g.67717949T>C Locations: - c.1A>C (NCI-TCGA:ENST00000253247) - p.M1? (NCI-TCGA:ENST00000253247) - c.2T>C (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043187089 | 2 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67717951G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717951G>A Locations: - p.Ala2Thr (Ensembl:ENST00000253247) - c.4G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1284414054 | 2 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67717952C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717952C>T Locations: - p.Ala2Val (Ensembl:ENST00000253247) - c.5C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1190567859 | 3 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67717955C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717955C>G Locations: - p.Ala3Gly (Ensembl:ENST00000253247) - c.8C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs776362026 | 3 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67717954G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717954G>C Locations: - p.Ala3Pro (Ensembl:ENST00000253247) - c.7G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs776362026 | 3 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67717954G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717954G>T Locations: - p.Ala3Ser (Ensembl:ENST00000253247) - c.7G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs776362026 | 3 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67717954G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717954G>A Locations: - p.Ala3Thr (Ensembl:ENST00000253247) - c.7G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1190567859 | 3 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67717955C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717955C>T Locations: - p.Ala3Val (Ensembl:ENST00000253247) - c.8C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1423959903 | 4 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67717957C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717957C>A Locations: - p.Leu4Met (Ensembl:ENST00000253247) - c.10C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761231053 | 4 | L>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67717958T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717958T>C Locations: - p.Leu4Pro (Ensembl:ENST00000253247) - c.11T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs568983818 | 5 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67717962G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717962G>T Locations: - p.Glu5Asp (Ensembl:ENST00000253247) - c.15G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1599031774 | 5 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000017.11:g.67717961A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717961A>G Locations: - p.Glu5Gly (Ensembl:ENST00000253247) - c.14A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1174697703 | 5 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67717960G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717960G>A Locations: - p.Glu5Lys (Ensembl:ENST00000253247) - c.13G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs201563517 | 6 | E>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67717965A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717965A>T Locations: - p.Glu6Asp (Ensembl:ENST00000253247) - c.18A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs749883787 | 6 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67717964A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717964A>G Locations: - p.Glu6Gly (Ensembl:ENST00000253247) - c.17A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs764864587 | 6 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67717963G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717963G>A Locations: - p.Glu6Lys (Ensembl:ENST00000253247) - c.16G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs751950512 | 7 | E>* | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67717966G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717966G>T Locations: - p.Glu7Ter (Ensembl:ENST00000253247) - c.19G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs755285061 | 7 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67717967A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717967A>C Locations: - p.Glu7Ala (Ensembl:ENST00000253247) - c.20A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs751950512 | 7 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67717966G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717966G>A Locations: - p.Glu7Lys (Ensembl:ENST00000253247) - c.19G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV53521680 COSV53522978 | 7 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.67717966G>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717966G>C Locations: - c.19G>C (NCI-TCGA:ENST00000253247) - p.E7Q (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043187751 | 8 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67717969T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717969T>A Locations: - p.Phe8Ile (Ensembl:ENST00000253247) - c.22T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs781400042 | 9 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67717973C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717973C>T Locations: - p.Thr9Met (Ensembl:ENST00000253247) - c.26C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs539405439 | 10 | L>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00372841 (1000Genomes) Accession: NC_000017.11:g.67717976T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717976T>C Locations: - p.Leu10Ser (Ensembl:ENST00000253247) - c.29T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs113707516 | 11 | S>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00215856 (1000Genomes) Accession: NC_000017.11:g.67717979C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717979C>T Locations: - p.Ser11Phe (Ensembl:ENST00000253247) - c.32C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs749301109 | 11 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67717978T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717978T>A Locations: - p.Ser11Thr (Ensembl:ENST00000253247) - c.31T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043188106 | 12 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67717982C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717982C>T Locations: - p.Ser12Leu (Ensembl:ENST00000253247) - c.35C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs780093176 | 12 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67717981T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717981T>C Locations: - p.Ser12Pro (Ensembl:ENST00000253247) - c.34T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs141463954 | 13 | V>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67717985T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717985T>C Locations: - p.Val13Ala (Ensembl:ENST00000253247) - c.38T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs746816407 | 13 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67717984G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717984G>A Locations: - p.Val13Ile (Ensembl:ENST00000253247) - c.37G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2043188279 | 14 | V>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67717988T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717988T>A Locations: - p.Val14Asp (Ensembl:ENST00000253247) - c.41T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs371883601 | 14 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.67717987G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717987G>T Locations: - p.Val14Phe (Ensembl:ENST00000253247) - c.40G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV99475289 | 15 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000017.11:g.67717990C>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717990C>A Locations: - c.43C>A (NCI-TCGA:ENST00000253247) - p.L15M (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761580184 | 16 | S>G | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67717993A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717993A>G Locations: - p.Ser16Gly (Ensembl:ENST00000253247) - c.46A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
TCGA novel rs761580184 | 16 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.03) - PolyPhen: benign (0.006) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67717995C>A, NC_000017.11:g.67717993A>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717995C>A, NC_000017.11:g.67717993A>C Locations: - c.48C>A (NCI-TCGA:ENST00000253247) - p.S16R (NCI-TCGA:ENST00000253247) - p.Ser16Arg (Ensembl:ENST00000253247) - c.46A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs376587257 | 18 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67717999G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67717999G>C Locations: - p.Gly18Arg (Ensembl:ENST00000253247) - c.52G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV99475287 | 19 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000017.11:g.67718003C>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718003C>T Locations: - c.56C>T (NCI-TCGA:ENST00000253247) - p.P19L (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043188631 | 19 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.67718003C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718003C>G Locations: - p.Pro19Arg (Ensembl:ENST00000253247) - c.56C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1364926442 | 19 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000017.11:g.67718002C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718002C>T Locations: - p.Pro19Ser (Ensembl:ENST00000253247) - c.55C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475285 rs1364926442 | 19 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.16) - PolyPhen: benign (0.023) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000017.11:g.67718002C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718002C>A Locations: - p.P19T (NCI-TCGA:ENST00000253247) - p.Pro19Thr (Ensembl:ENST00000253247) - c.55C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143066571 | 22 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67718011C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718011C>T Locations: - p.Leu22Phe (Ensembl:ENST00000253247) - c.64C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs766667345 | 22 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.67718012T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718012T>C Locations: - p.Leu22Pro (Ensembl:ENST00000253247) - c.65T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2043188753 | 23 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000017.11:g.67718015T>A Codon: CTA/CAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718015T>A Locations: - p.Leu23Gln (Ensembl:ENST00000253247) - c.68T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143066701 | 25 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67718021T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718021T>C Locations: - p.Val25Ala (Ensembl:ENST00000253247) - c.74T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs751999152 | 25 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.67718020G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718020G>A Locations: - p.Val25Met (Ensembl:ENST00000253247) - c.73G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs760034370 | 26 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67718024A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718024A>C Locations: - p.Glu26Ala (Ensembl:ENST00000253247) - c.77A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs995983307 | 26 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.327) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67718025G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718025G>T Locations: - p.Glu26Asp (Ensembl:ENST00000253247) - c.78G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs767928181 | 27 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67718026C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718026C>T Locations: - p.Gln27Ter (Ensembl:ENST00000253247) - c.79C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1365218799 | 28 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.67718030G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718030G>A Locations: - p.Ser28Asn (Ensembl:ENST00000253247) - c.83G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1365218799 | 28 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000017.11:g.67718030G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718030G>C Locations: - p.Ser28Thr (Ensembl:ENST00000253247) - c.83G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043188982 | 29 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.67718033A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718033A>G Locations: - p.Asp29Gly (Ensembl:ENST00000253247) - c.86A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs756402300 | 30 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.22) - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00002386 (gnomAD) Accession: NC_000017.11:g.67718036A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718036A>G Locations: - p.K30R (NCI-TCGA:ENST00000253247) - p.Lys30Arg (Ensembl:ENST00000253247) - c.89A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043189055 | 31 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000017.11:g.67718038A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718038A>G Locations: - p.Thr31Ala (Ensembl:ENST00000253247) - c.91A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1318692671 | 31 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67718039C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718039C>G Locations: - p.Thr31Arg (Ensembl:ENST00000253247) - c.92C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1225970197 | 32 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67718043C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718043C>G Locations: - p.Asp32Glu (Ensembl:ENST00000253247) - c.96C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475190 | 35 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000017.11:g.67718050C>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718050C>A Locations: - c.103C>A (NCI-TCGA:ENST00000253247) - p.L35I (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143066903 | 36 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67718053G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718053G>A Locations: - p.Val36Met (Ensembl:ENST00000253247) - c.106G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1434315712 | 38 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67718059G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718059G>T Locations: - p.Asp38Tyr (Ensembl:ENST00000253247) - c.112G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1266954949 | 39 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67718063G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718063G>A Locations: - p.Ser39Asn (Ensembl:ENST00000253247) - c.116G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043189232 | 40 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.282) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.67718066G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718066G>A Locations: - p.Gly40Asp (Ensembl:ENST00000253247) - c.119G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 42 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67718071A>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718071A>G Locations: - c.124A>G (NCI-TCGA:ENST00000253247) - p.T42A (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2143066955 | 42 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000017.11:g.67718071A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718071A>T Locations: - p.Thr42Ser (Ensembl:ENST00000253247) - c.124A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1599031953 | 43 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67718075T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718075T>G Locations: - p.Val43Gly (Ensembl:ENST00000253247) - c.128T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs764187534 | 47 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67718088G>T, NC_000017.11:g.67718088G>C Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718088G>T, NC_000017.11:g.67718088G>C Locations: - p.Lys47Asn (Ensembl:ENST00000253247) - c.141G>T (Ensembl:ENST00000253247) - c.141G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs911630368 | 47 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67718086A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67718086A>C Locations: - p.Lys47Gln (Ensembl:ENST00000253247) - c.139A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475100 COSV99475111 rs2043202688 | 50 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719680G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719680G>A Locations: - p.D50N (NCI-TCGA:ENST00000253247) - p.Asp50Asn (Ensembl:ENST00000253247) - c.148G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475343 | 51 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000017.11:g.67719683C>T Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719683C>T Locations: - c.151C>T (NCI-TCGA:ENST00000253247) - p.Q51* (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775805724 | 51 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719683C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719683C>G Locations: - p.Gln51Glu (Ensembl:ENST00000253247) - c.151C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1472550220 | 51 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719684A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719684A>T Locations: - p.Gln51Leu (Ensembl:ENST00000253247) - c.152A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs764429218 | 53 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67719690C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719690C>G Locations: - p.Pro53Arg (Ensembl:ENST00000253247) - c.158C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs761108147 | 53 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719689C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719689C>T Locations: - p.Pro53Ser (Ensembl:ENST00000253247) - c.157C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043202874 | 55 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719695G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719695G>A Locations: - p.Gly55Arg (Ensembl:ENST00000253247) - c.163G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs150840596 | 56 | S>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67719699G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719699G>A Locations: - p.Ser56Asn (Ensembl:ENST00000253247) - c.167G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs762171664 | 57 | W>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719701T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719701T>C Locations: - p.Trp57Arg (Ensembl:ENST00000253247) - c.169T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs765521808 | 59 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67719707G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719707G>A Locations: - p.Val59Met (Ensembl:ENST00000253247) - c.175G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043203045 | 61 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.67719715A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719715A>C Locations: - p.Gln61His (Ensembl:ENST00000253247) - c.183A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs922441234 | 61 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719714A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719714A>G Locations: - p.Gln61Arg (Ensembl:ENST00000253247) - c.182A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs750560995 | 62 | G>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719717G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719717G>A Locations: - p.Gly62Asp (Ensembl:ENST00000253247) - c.185G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1358066546 | 62 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719716G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719716G>A Locations: - p.Gly62Ser (Ensembl:ENST00000253247) - c.184G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 63 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719719C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719719C>G Locations: - c.187C>G (NCI-TCGA:ENST00000253247) - p.Q63E (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs201484850 | 63 | Q>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67719721A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719721A>T Locations: - p.Gln63His (Ensembl:ENST00000253247) - c.189A>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
TCGA novel | 64 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67719722A>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719722A>T Locations: - c.190A>T (NCI-TCGA:ENST00000253247) - p.I64F (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs767501692 | 65 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719727A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719727A>G Locations: - p.Ile65Met (Ensembl:ENST00000253247) - c.195A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1362609870 | 65 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67719725A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719725A>G Locations: - p.Ile65Val (Ensembl:ENST00000253247) - c.193A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1297342099 | 66 | T>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719729C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719729C>A Locations: - p.Thr66Lys (Ensembl:ENST00000253247) - c.197C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1307988424 | 67 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719731T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719731T>C Locations: - p.Cys67Arg (Ensembl:ENST00000253247) - c.199T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs888157785 | 68 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719735C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719735C>T Locations: - p.Pro68Leu (Ensembl:ENST00000253247) - c.203C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1371439499 | 70 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719740G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719740G>A Locations: - p.Val70Met (Ensembl:ENST00000253247) - c.208G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs199617298 | 71 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000017.11:g.67719744G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719744G>A Locations: - p.Cys71Tyr (Ensembl:ENST00000253247) - c.212G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs756066556 | 72 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719747A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719747A>G Locations: - p.Asn72Ser (Ensembl:ENST00000253247) - c.215A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs756066556 | 72 | N>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.565) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719747A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719747A>C Locations: - p.Asn72Thr (Ensembl:ENST00000253247) - c.215A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1369562965 | 74 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.9) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.67719754A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719754A>T Locations: - p.Gln74His (Ensembl:ENST00000253247) - c.222A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs753599497 | 76 | G>E | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.67719759G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719759G>A Locations: - p.Gly76Glu (Ensembl:ENST00000253247) - c.227G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1216620439 | 77 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719762A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719762A>C Locations: - p.Glu77Ala (Ensembl:ENST00000253247) - c.230A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs369265180 | 78 | Y>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719765A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719765A>C Locations: - p.Tyr78Ser (Ensembl:ENST00000253247) - c.233A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2043203770 | 79 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000017.11:g.67719767G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719767G>A Locations: - p.Val79Ile (Ensembl:ENST00000253247) - c.235G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs914029392 | 80 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67719771T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719771T>C Locations: - p.Val80Ala (Ensembl:ENST00000253247) - c.239T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs781637935 | 83 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719780A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719780A>G Locations: - p.Asp83Gly (Ensembl:ENST00000253247) - c.248A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs563756333 | 83 | D>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67719779G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719779G>A Locations: - p.Asp83Asn (Ensembl:ENST00000253247) - c.247G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522944 | 83 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.67719779G>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719779G>T Locations: - c.247G>T (NCI-TCGA:ENST00000253247) - p.D83Y (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs747525110 | 84 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.67719783A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719783A>G Locations: - p.Asn84Ser (Ensembl:ENST00000253247) - c.251A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1424433880 | 85 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719785A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719785A>G Locations: - p.Lys85Glu (Ensembl:ENST00000253247) - c.253A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs781745657 | 86 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67719906G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719906G>A Locations: - p.Val86Ile (Ensembl:ENST00000253247) - c.256G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1227916369 | 89 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719917A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719917A>G Locations: - p.Ile89Met (Ensembl:ENST00000253247) - c.267A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043205196 | 91 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719921A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719921A>G Locations: - p.Asn91Asp (Ensembl:ENST00000253247) - c.271A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1013343356 | 91 | N>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67719922A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719922A>C Locations: - p.Asn91Thr (Ensembl:ENST00000253247) - c.272A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043205269 | 92 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67719924A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719924A>C Locations: - p.Asn92His (Ensembl:ENST00000253247) - c.274A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143074860 | 92 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719926T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719926T>G Locations: - p.Asn92Lys (Ensembl:ENST00000253247) - c.276T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043205297 | 93 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.67719929A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719929A>C Locations: - p.Glu93Asp (Ensembl:ENST00000253247) - c.279A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522345 rs547266367 | 94 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001268 (gnomAD) Accession: NC_000017.11:g.67719931A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719931A>G Locations: - p.D94G (NCI-TCGA:ENST00000253247) - p.Asp94Gly (Ensembl:ENST00000253247) - c.281A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs547266367 | 94 | D>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719931A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719931A>T Locations: - p.Asp94Val (Ensembl:ENST00000253247) - c.281A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs773706586 | 95 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000017.11:g.67719933G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719933G>A Locations: - p.Val95Ile (Ensembl:ENST00000253247) - c.283G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs368087259 | 96 | N>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.67719936A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719936A>T Locations: - p.Asn96Tyr (Ensembl:ENST00000253247) - c.286A>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs922478335 | 98 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67719944T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719944T>G Locations: - p.Asp98Glu (Ensembl:ENST00000253247) - c.294T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1002024664 | 98 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67719943A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719943A>G Locations: - p.Asp98Gly (Ensembl:ENST00000253247) - c.293A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475221 | 98 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.67719942G>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719942G>T Locations: - c.292G>T (NCI-TCGA:ENST00000253247) - p.D98Y (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043205571 | 99 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67719945A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719945A>G Locations: - p.Lys99Glu (Ensembl:ENST00000253247) - c.295A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs932588695 | 99 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719946A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719946A>G Locations: - p.Lys99Arg (Ensembl:ENST00000253247) - c.296A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs771153752 | 100 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719948G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719948G>A Locations: - p.Val100Ile (Ensembl:ENST00000253247) - c.298G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs771153752 | 100 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67719948G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67719948G>C Locations: - p.Val100Leu (Ensembl:ENST00000253247) - c.298G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs758022549 | 109 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.669) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721391T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721391T>C Locations: - p.Val109Ala (Ensembl:ENST00000253247) - c.326T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1407104876 | 109 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.67721390G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721390G>A Locations: - p.Val109Ile (Ensembl:ENST00000253247) - c.325G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1207067386 | 110 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67721394A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721394A>G Locations: - p.Tyr110Cys (Ensembl:ENST00000253247) - c.329A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs751051311 | 111 | R>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67721397G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721397G>T Locations: - p.Arg111Met (Ensembl:ENST00000253247) - c.332G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs751051311 | 111 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721397G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721397G>C Locations: - p.Arg111Thr (Ensembl:ENST00000253247) - c.332G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043216604 | 112 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67721399A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721399A>T Locations: - p.Ile112Leu (Ensembl:ENST00000253247) - c.334A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs754451999 | 112 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721401A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721401A>G Locations: - p.Ile112Met (Ensembl:ENST00000253247) - c.336A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53525540 | 114 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000017.11:g.67721406C>G Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721406C>G Locations: - c.341C>G (NCI-TCGA:ENST00000253247) - p.S114* (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
VAR_051237 rs2291284 | 115 | V>A | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0624019 (1000Genomes) Accession: NC_000017.11:g.67721409T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721409T>C Locations: - p.Val115Ala (UniProt:Q9H8H0) Source type: mixed Cross-references: | |||||||
rs2291284 | 115 | V>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.0624019 (1000Genomes) Accession: NC_000017.11:g.67721409T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721409T>A Locations: - p.Val115Glu (Ensembl:ENST00000253247) - c.344T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2291284 | 115 | V>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.378) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.0624019 (1000Genomes) Accession: NC_000017.11:g.67721409T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721409T>G Locations: - p.Val115Gly (Ensembl:ENST00000253247) - c.344T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs568124045 | 115 | V>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67721408G>T, NC_000017.11:g.67721408G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721408G>T, NC_000017.11:g.67721408G>C Locations: - p.Val115Leu (Ensembl:ENST00000253247) - c.343G>T (Ensembl:ENST00000253247) - c.343G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1186356423 | 116 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67721411C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721411C>A Locations: - p.Gln116Lys (Ensembl:ENST00000253247) - c.346C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs781770292 | 116 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67721412A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721412A>C Locations: - p.Gln116Pro (Ensembl:ENST00000253247) - c.347A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs781770292 | 116 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67721412A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721412A>G Locations: - p.Gln116Arg (Ensembl:ENST00000253247) - c.347A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs372828201 | 117 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67721414G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721414G>A Locations: - p.Gly117Arg (Ensembl:ENST00000253247) - c.349G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2043216792 | 117 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67721415G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721415G>T Locations: - p.Gly117Val (Ensembl:ENST00000253247) - c.350G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs745943352 | 120 | P>L | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67721424C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721424C>T Locations: - p.Pro120Leu (Ensembl:ENST00000253247) - c.359C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs774578419 | 120 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721423C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721423C>T Locations: - p.Pro120Ser (Ensembl:ENST00000253247) - c.358C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs200900858 | 125 | K>N | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67721440G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721440G>T Locations: - p.Lys125Asn (Ensembl:ENST00000253247) - c.375G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775537313 | 126 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67721441G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721441G>T Locations: - p.Glu126Ter (Ensembl:ENST00000253247) - c.376G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1404404798 | 128 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.67721448C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721448C>G Locations: - p.Ala128Gly (Ensembl:ENST00000253247) - c.383C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761784192 | 128 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67721447G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721447G>A Locations: - p.Ala128Thr (Ensembl:ENST00000253247) - c.382G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1404404798 | 128 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67721448C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721448C>T Locations: - p.Ala128Val (Ensembl:ENST00000253247) - c.383C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1394415208 | 129 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67721450G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721450G>A Locations: - p.Val129Ile (Ensembl:ENST00000253247) - c.385G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1333699955 | 130 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67721453C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721453C>T Locations: - p.Arg130Cys (Ensembl:ENST00000253247) - c.388C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1221694183 | 130 | R>H | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67721454G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721454G>A Locations: - p.Arg130His (Ensembl:ENST00000253247) - c.389G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs765125216 | 131 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000017.11:g.67721456G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721456G>A Locations: - p.Gly131Ser (Ensembl:ENST00000253247) - c.391G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1452765611 | 131 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000017.11:g.67721457G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721457G>T Locations: - p.Gly131Val (Ensembl:ENST00000253247) - c.392G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs773020702 | 134 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000017.11:g.67721466C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721466C>T Locations: - p.Ala134Val (Ensembl:ENST00000253247) - c.401C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs762757088 | 135 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721470G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721470G>T Locations: - p.Leu135Phe (Ensembl:ENST00000253247) - c.405G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043217212 | 137 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67721475C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721475C>G Locations: - p.Ala137Gly (Ensembl:ENST00000253247) - c.410C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043217212 | 137 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67721475C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721475C>T Locations: - p.Ala137Val (Ensembl:ENST00000253247) - c.410C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs765960691 | 138 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.67721479C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721479C>A Locations: - p.Asp138Glu (Ensembl:ENST00000253247) - c.414C>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1234922936 | 139 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721481C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721481C>T Locations: - p.Pro139Leu (Ensembl:ENST00000253247) - c.416C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1599034556 | 139 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721480C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721480C>T Locations: - p.Pro139Ser (Ensembl:ENST00000253247) - c.415C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs754583272 | 140 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721484A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721484A>G Locations: - p.Gln140Arg (Ensembl:ENST00000253247) - c.419A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs767192630 | 141 | Q>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67721487A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721487A>G Locations: - p.Gln141Arg (Ensembl:ENST00000253247) - c.422A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1394417359 | 142 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67721491A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721491A>T Locations: - p.Lys142Asn (Ensembl:ENST00000253247) - c.426A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs897855395 | 143 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67721494T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721494T>G Locations: - p.Ile143Met (Ensembl:ENST00000253247) - c.429T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs569306959 | 143 | I>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67721493T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721493T>C Locations: - p.Ile143Thr (Ensembl:ENST00000253247) - c.428T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1261947036 | 144 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721496A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721496A>C Locations: - p.Glu144Ala (Ensembl:ENST00000253247) - c.431A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 145 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67721499C>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721499C>A Locations: - c.434C>A (NCI-TCGA:ENST00000253247) - p.T145N (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs867599412 | 147 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67721504A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721504A>G Locations: - p.Ile147Val (Ensembl:ENST00000253247) - c.439A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs866296665 | 148 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721508C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721508C>T Locations: - p.Ser148Phe (Ensembl:ENST00000253247) - c.443C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1460392226 | 149 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000017.11:g.67721512T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721512T>G Locations: - p.Asp149Glu (Ensembl:ENST00000253247) - c.447T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs759943085 | 150 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67721513G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721513G>A Locations: - p.Glu150Lys (Ensembl:ENST00000253247) - c.448G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523080 COSV99474928 | 151 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67721516G>T Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721516G>T Locations: - c.451G>T (NCI-TCGA:ENST00000253247) - p.E151* (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523080 COSV99474928 | 151 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67721516G>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721516G>A Locations: - c.451G>A (NCI-TCGA:ENST00000253247) - p.E151K (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043217591 | 152 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67721519G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67721519G>A Locations: - p.Val152Met (Ensembl:ENST00000253247) - c.454G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs551382228 | 155 | W>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67722581T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722581T>A Locations: - p.Trp155Arg (Ensembl:ENST00000253247) - c.463T>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs770824573 | 156 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67722585C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722585C>T Locations: - p.Thr156Ile (Ensembl:ENST00000253247) - c.467C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs774003532 | 157 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67722587A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722587A>G Locations: - p.Lys157Glu (Ensembl:ENST00000253247) - c.469A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1458919052 | 157 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.67722588A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722588A>G Locations: - p.Lys157Arg (Ensembl:ENST00000253247) - c.470A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043226008 | 159 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67722594T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722594T>C Locations: - p.Phe159Ser (Ensembl:ENST00000253247) - c.476T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs752280263 | 160 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67722597T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722597T>G Locations: - p.Val160Gly (Ensembl:ENST00000253247) - c.479T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs560574115 | 160 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.67722596G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722596G>A Locations: - p.Val160Ile (Ensembl:ENST00000253247) - c.478G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs560574115 | 160 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000017.11:g.67722596G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722596G>C Locations: - p.Val160Leu (Ensembl:ENST00000253247) - c.478G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1365334253 | 161 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.67722599G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722599G>T Locations: - p.Val161Leu (Ensembl:ENST00000253247) - c.481G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043226244 | 165 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67722612C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722612C>T Locations: - p.Pro165Leu (Ensembl:ENST00000253247) - c.494C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522396 | 167 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000017.11:g.67722617T>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722617T>G Locations: - c.499T>G (NCI-TCGA:ENST00000253247) - p.L167V (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043226288 | 168 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.67722622T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722622T>G Locations: - p.Ile168Met (Ensembl:ENST00000253247) - c.504T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs115566040 | 170 | I>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.67722626A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722626A>C Locations: - p.Ile170Leu (Ensembl:ENST00000253247) - c.508A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2043226387 | 170 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67722627T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722627T>A Locations: - p.Ile170Asn (Ensembl:ENST00000253247) - c.509T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1161020728 | 172 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67722633A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722633A>C Locations: - p.Glu172Ala (Ensembl:ENST00000253247) - c.515A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1161020728 | 172 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67722633A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722633A>T Locations: - p.Glu172Val (Ensembl:ENST00000253247) - c.515A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs779386627 | 173 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67722637A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722637A>C Locations: - p.Lys173Asn (Ensembl:ENST00000253247) - c.519A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1287279671 | 173 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67722636A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67722636A>G Locations: - p.Lys173Arg (Ensembl:ENST00000253247) - c.518A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs538687883 | 174 | H>Q | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67724051T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724051T>G Locations: - p.His174Gln (Ensembl:ENST00000253247) - c.522T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs199980069 | 175 | G>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67724053G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724053G>A Locations: - p.Gly175Glu (Ensembl:ENST00000253247) - c.524G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055062675 | 175 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67724052G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724052G>A Locations: - p.Gly175Arg (Ensembl:ENST00000253247) - c.523G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055062735 | 176 | N>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724055A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724055A>T Locations: - p.Asn176Tyr (Ensembl:ENST00000253247) - c.526A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1483657605 | 177 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.67724059A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724059A>G Locations: - p.Tyr177Cys (Ensembl:ENST00000253247) - c.530A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs907633828 | 179 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67724064G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724064G>T Locations: - p.Ala179Ser (Ensembl:ENST00000253247) - c.535G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1209745874 | 181 | V>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724071T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724071T>A Locations: - p.V181E (NCI-TCGA:ENST00000253247) - p.Val181Glu (Ensembl:ENST00000253247) - c.542T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs757607541 | 181 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000017.11:g.67724070G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724070G>T Locations: - p.Val181Leu (Ensembl:ENST00000253247) - c.541G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs757607541 | 181 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67724070G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724070G>A Locations: - p.Val181Met (Ensembl:ENST00000253247) - c.541G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1391880712 | 183 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67724076A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724076A>G Locations: - p.Met183Val (Ensembl:ENST00000253247) - c.547A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs542557138 | 184 | F>C | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67724080T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724080T>G Locations: - p.Phe184Cys (Ensembl:ENST00000253247) - c.551T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs758701777 | 185 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724082A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724082A>G Locations: - p.Asn185Asp (Ensembl:ENST00000253247) - c.553A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055063235 | 186 | S>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67724086C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724086C>G Locations: - p.Ser186Ter (Ensembl:ENST00000253247) - c.557C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475252 rs751845847 | 187 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00001303 (gnomAD) Accession: NC_000017.11:g.67724088C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724088C>T Locations: - p.R187C (NCI-TCGA:ENST00000253247) - p.Arg187Cys (Ensembl:ENST00000253247) - c.559C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs751845847 | 187 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67724088C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724088C>G Locations: - p.Arg187Gly (Ensembl:ENST00000253247) - c.559C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs781381476 | 187 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.67724089G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724089G>A Locations: - p.Arg187His (Ensembl:ENST00000253247) - c.560G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1441315938 | 188 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000017.11:g.67724092T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724092T>C Locations: - p.Ile188Thr (Ensembl:ENST00000253247) - c.563T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1378027848 | 188 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000017.11:g.67724091A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724091A>G Locations: - p.Ile188Val (Ensembl:ENST00000253247) - c.562A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs374592574 | 190 | T>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.67724097A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724097A>G Locations: - p.Thr190Ala (Ensembl:ENST00000253247) - c.568A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1404664493 | 192 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724104A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724104A>G Locations: - p.Tyr192Cys (Ensembl:ENST00000253247) - c.575A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1344826677 | 193 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000017.11:g.67724107C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724107C>G Locations: - p.Thr193Arg (Ensembl:ENST00000253247) - c.578C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53524556 COSV99475039 | 194 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724109C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724109C>G Locations: - c.580C>G (NCI-TCGA:ENST00000253247) - p.L194V (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99474844 | 195 | L>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000017.11:g.67724113T>G Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724113T>G Locations: - c.584T>G (NCI-TCGA:ENST00000253247) - p.L195* (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs144436026 | 195 | L>F | ESP | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.67724114A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724114A>C Locations: - p.Leu195Phe (Ensembl:ENST00000253247) - c.585A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055063748 | 196 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000017.11:g.67724115C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724115C>A Locations: - p.Leu196Ile (Ensembl:ENST00000253247) - c.586C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055063791 | 196 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.67724116T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724116T>C Locations: - p.Leu196Pro (Ensembl:ENST00000253247) - c.587T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055063748 | 196 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000017.11:g.67724115C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724115C>G Locations: - p.Leu196Val (Ensembl:ENST00000253247) - c.586C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 197 | G>D | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.67724116del Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724116del Locations: - c.588del (NCI-TCGA:ENST00000253247) - p.G197Dfs*8 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs148391618 | 197 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67724119G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724119G>A Locations: - p.Gly197Glu (Ensembl:ENST00000253247) - c.590G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs775414046 | 197 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67724118G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724118G>A Locations: - p.Gly197Arg (Ensembl:ENST00000253247) - c.589G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1194684847 | 198 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.67724122A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724122A>G Locations: - p.Gln198Arg (Ensembl:ENST00000253247) - c.593A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs377003215 | 199 | D>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67724126C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724126C>G Locations: - p.Asp199Glu (Ensembl:ENST00000253247) - c.597C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs761175726 | 200 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67724127G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724127G>A Locations: - p.Glu200Lys (Ensembl:ENST00000253247) - c.598G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055064018 | 201 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.493) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67724130A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724130A>C Locations: - p.Asn201His (Ensembl:ENST00000253247) - c.601A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 202 | S>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000017.11:g.67724133T>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724133T>G Locations: - c.604T>G (NCI-TCGA:ENST00000253247) - p.S202A (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs773638848 | 204 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67724141A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724141A>G Locations: - p.Ile204Met (Ensembl:ENST00000253247) - c.612A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs201070916 | 204 | I>T | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.46) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67724140T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724140T>C Locations: - p.Ile204Thr (Ensembl:ENST00000253247) - c.611T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523974 | 205 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.48) Somatic: Yes Accession: NC_000017.11:g.67724144G>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724144G>C Locations: - c.615G>C (NCI-TCGA:ENST00000253247) - p.K205N (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1353381494 | 205 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000017.11:g.67724142A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724142A>C Locations: - p.Lys205Gln (Ensembl:ENST00000253247) - c.613A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055064342 | 207 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724148T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724148T>A Locations: - p.Phe207Ile (Ensembl:ENST00000253247) - c.619T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1447480306 | 207 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724149T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724149T>C Locations: - p.Phe207Ser (Ensembl:ENST00000253247) - c.620T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1447480306 | 207 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724149T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724149T>A Locations: - p.Phe207Tyr (Ensembl:ENST00000253247) - c.620T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs763444418 | 209 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67724154G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724154G>T Locations: - p.Ala209Ser (Ensembl:ENST00000253247) - c.625G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs763444418 | 209 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67724154G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724154G>A Locations: - p.Ala209Thr (Ensembl:ENST00000253247) - c.625G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV53525208 | 209 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000017.11:g.67724155C>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724155C>T Locations: - c.626C>T (NCI-TCGA:ENST00000253247) - p.A209V (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs751899070 | 210 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000017.11:g.67724158C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724158C>T Locations: - p.Ser210Phe (Ensembl:ENST00000253247) - c.629C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs142511230 | 211 | V>I | ESP | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000017.11:g.67724160G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724160G>A Locations: - p.Val211Ile (Ensembl:ENST00000253247) - c.631G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs200539767 | 212 | D>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67724164A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724164A>G Locations: - p.Asp212Gly (Ensembl:ENST00000253247) - c.635A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs767586061 | 212 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.67724163G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724163G>A Locations: - p.Asp212Asn (Ensembl:ENST00000253247) - c.634G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs767586061 | 212 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67724163G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724163G>T Locations: - p.Asp212Tyr (Ensembl:ENST00000253247) - c.634G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs777905751 | 213 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.67724167G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724167G>A Locations: - p.Arg213Gln (Ensembl:ENST00000253247) - c.638G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523071 rs202096165 | 213 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.655) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000017.11:g.67724166C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724166C>T Locations: - p.R213W (NCI-TCGA:ENST00000253247) - p.Arg213Trp (Ensembl:ENST00000253247) - c.637C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs150949358 | 216 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.14) - PolyPhen: benign (0.049) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.67724175A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724175A>G Locations: - p.I216V (NCI-TCGA:ENST00000253247) - p.Ile216Val (Ensembl:ENST00000253247) - c.646A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1567799640 | 218 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67724183G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724183G>C Locations: - p.Leu218Phe (Ensembl:ENST00000253247) - c.654G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1238439782 | 219 | M>I | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67724186G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724186G>C Locations: - p.Met219Ile (Ensembl:ENST00000253247) - c.657G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs745860879 | 219 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67724184A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724184A>G Locations: - p.Met219Val (Ensembl:ENST00000253247) - c.655A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1368925049 | 220 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.775) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67724187T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67724187T>C Locations: - p.Ser220Pro (Ensembl:ENST00000253247) - c.658T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055094385 | 222 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67726460G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726460G>T Locations: - p.Ser222Ile (Ensembl:ENST00000253247) - c.665G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055094385 | 222 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67726460G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726460G>C Locations: - p.Ser222Thr (Ensembl:ENST00000253247) - c.665G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 223 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67726463C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726463C>G Locations: - c.668C>G (NCI-TCGA:ENST00000253247) - p.S223C (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs780086951 | 226 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000017.11:g.67726472G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726472G>T Locations: - p.Cys226Phe (Ensembl:ENST00000253247) - c.677G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs780086951 | 226 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000017.11:g.67726472G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726472G>C Locations: - p.Cys226Ser (Ensembl:ENST00000253247) - c.677G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs780086951 | 226 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000017.11:g.67726472G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726472G>A Locations: - p.Cys226Tyr (Ensembl:ENST00000253247) - c.677G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1472610739 | 227 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67726476A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726476A>G Locations: - p.Ile227Met (Ensembl:ENST00000253247) - c.681A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055094475 | 227 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726475T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726475T>C Locations: - p.Ile227Thr (Ensembl:ENST00000253247) - c.680T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs140784968 | 227 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67726474A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726474A>G Locations: - p.Ile227Val (Ensembl:ENST00000253247) - c.679A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs754659334 | 228 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67726478A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726478A>G Locations: - p.Tyr228Cys (Ensembl:ENST00000253247) - c.683A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs781034394 | 230 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.67726484C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726484C>G Locations: - p.Thr230Ser (Ensembl:ENST00000253247) - c.689C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055094656 | 231 | L>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726487T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726487T>G Locations: - p.Leu231Trp (Ensembl:ENST00000253247) - c.692T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs747810985 | 232 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000017.11:g.67726489A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726489A>G Locations: - p.Ile232Val (Ensembl:ENST00000253247) - c.694A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055094779 | 233 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726493C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726493C>G Locations: - p.Pro233Arg (Ensembl:ENST00000253247) - c.698C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs769464386 | 233 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000017.11:g.67726492C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726492C>T Locations: - p.Pro233Ser (Ensembl:ENST00000253247) - c.697C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
TCGA novel | 233 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726492C>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726492C>A Locations: - c.697C>A (NCI-TCGA:ENST00000253247) - p.P233T (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1301788049 | 234 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67726497A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726497A>G Locations: - p.Ile234Met (Ensembl:ENST00000253247) - c.702A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1407489593 | 234 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000017.11:g.67726495A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726495A>G Locations: - p.Ile234Val (Ensembl:ENST00000253247) - c.700A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs545577983 | 235 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67726498C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726498C>T Locations: - p.Arg235Cys (Ensembl:ENST00000253247) - c.703C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs545577983 | 235 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67726498C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726498C>G Locations: - p.Arg235Gly (Ensembl:ENST00000253247) - c.703C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs748756964 | 235 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000017.11:g.67726499G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726499G>A Locations: - p.Arg235His (Ensembl:ENST00000253247) - c.704G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs748756964 | 235 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67726499G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726499G>C Locations: - p.Arg235Pro (Ensembl:ENST00000253247) - c.704G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1309947703 | 236 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67726502C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726502C>T Locations: - p.Pro236Leu (Ensembl:ENST00000253247) - c.707C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1238594921 | 238 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000017.11:g.67726509C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726509C>G Locations: - p.Asp238Glu (Ensembl:ENST00000253247) - c.714C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1348768419 | 238 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000017.11:g.67726508A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726508A>T Locations: - p.Asp238Val (Ensembl:ENST00000253247) - c.713A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1285045462 | 239 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000017.11:g.67726510C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726510C>G Locations: - p.Pro239Ala (Ensembl:ENST00000253247) - c.715C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 242 | N>I | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.67726514del Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726514del Locations: - c.725del (NCI-TCGA:ENST00000253247) - p.N242Ifs*4 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1290861162 | 243 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67726522C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726522C>G Locations: - p.Gln243Glu (Ensembl:ENST00000253247) - c.727C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs760085730 | 244 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.67726525A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726525A>G Locations: - p.Ser244Gly (Ensembl:ENST00000253247) - c.730A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1248983640 | 244 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67726526G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726526G>T Locations: - p.Ser244Ile (Ensembl:ENST00000253247) - c.731G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs772379633 | 245 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.534) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726530A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726530A>C Locations: - p.Leu245Phe (Ensembl:ENST00000253247) - c.735A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs775903510 | 246 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67726531G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726531G>A Locations: - p.Val246Ile (Ensembl:ENST00000253247) - c.736G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 248 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.67726537T>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726537T>A Locations: - c.742T>A (NCI-TCGA:ENST00000253247) - p.S248T (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1268959016 | 250 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67726544T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726544T>G Locations: - p.Leu250Arg (Ensembl:ENST00000253247) - c.749T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs945416940 | 251 | L>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726547T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726547T>A Locations: - p.Leu251His (Ensembl:ENST00000253247) - c.752T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1042393243 | 253 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67726552G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726552G>T Locations: - p.Ala253Ser (Ensembl:ENST00000253247) - c.757G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs753997488 | 254 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.67726555G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726555G>A Locations: - p.Val254Ile (Ensembl:ENST00000253247) - c.760G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761922405 | 255 | V>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67726559T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726559T>G Locations: - p.Val255Gly (Ensembl:ENST00000253247) - c.764T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1172652141 | 255 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67726558G>T, NC_000017.11:g.67726558G>C Codon: GTA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726558G>T, NC_000017.11:g.67726558G>C Locations: - p.Val255Leu (Ensembl:ENST00000253247) - c.763G>T (Ensembl:ENST00000253247) - c.763G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs766419937 | 257 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000017.11:g.67726565G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726565G>A Locations: - p.Gly257Asp (Ensembl:ENST00000253247) - c.770G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs766419937 | 257 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67726565G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726565G>T Locations: - p.Gly257Val (Ensembl:ENST00000253247) - c.770G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1303301232 | 259 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67726571C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726571C>G Locations: - p.Ala259Gly (Ensembl:ENST00000253247) - c.776C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs754927005 | 259 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67726570G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726570G>C Locations: - p.Ala259Pro (Ensembl:ENST00000253247) - c.775G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs754927005 | 259 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.55) - PolyPhen: benign (0.001) - SIFT: tolerated (0.25) Somatic: No Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000017.11:g.67726570G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726570G>A Locations: - p.A259T (NCI-TCGA:ENST00000253247) - p.Ala259Thr (Ensembl:ENST00000253247) - c.775G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1335044465 | 260 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67726573C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726573C>T Locations: - p.Arg260Ter (Ensembl:ENST00000253247) - c.778C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1335044465 | 260 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67726573C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726573C>G Locations: - p.Arg260Gly (Ensembl:ENST00000253247) - c.778C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs116640209 | 260 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67726574G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726574G>A Locations: - p.Arg260Gln (Ensembl:ENST00000253247) - c.779G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 261 | N>K | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.67726577_67726580del Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726577_67726580del Locations: - c.783_786del (NCI-TCGA:ENST00000253247) - p.N261Kfs*15 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1346296530 | 261 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.67726577A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726577A>G Locations: - p.Asn261Ser (Ensembl:ENST00000253247) - c.782A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99474840 rs755793736 | 262 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: tolerated (0.35) - PolyPhen: possibly damaging (0.491) - SIFT: tolerated (0.61) Somatic: No Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000017.11:g.67726580G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726580G>C Locations: - p.G262A (NCI-TCGA:ENST00000253247) - p.Gly262Ala (Ensembl:ENST00000253247) - c.785G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs777356149 | 263 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726582G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726582G>T Locations: - p.Val263Phe (Ensembl:ENST00000253247) - c.787G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055096056 | 264 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67726585G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726585G>A Locations: - p.Ala264Thr (Ensembl:ENST00000253247) - c.790G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1342695789 | 264 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726586C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726586C>T Locations: - p.Ala264Val (Ensembl:ENST00000253247) - c.791C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
RCV000947854 rs76234567 | 265 | L>V | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.03275 (ClinVar) Accession: NC_000017.11:g.67726588C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726588C>G Locations: - p.Leu265Val (Ensembl:ENST00000253247) - c.793C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055096236 | 266 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67726592C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726592C>A Locations: - p.Thr266Asn (Ensembl:ENST00000253247) - c.797C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1365138754 | 267 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67726595C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726595C>T Locations: - p.Ala267Val (Ensembl:ENST00000253247) - c.800C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055096450 | 269 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726601A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726601A>G Locations: - p.Asp269Gly (Ensembl:ENST00000253247) - c.806A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1272455114 | 269 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726600G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726600G>A Locations: - p.Asp269Asn (Ensembl:ENST00000253247) - c.805G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1272455114 | 269 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726600G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726600G>T Locations: - p.Asp269Tyr (Ensembl:ENST00000253247) - c.805G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs546946265 | 270 | Q>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67726604A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726604A>C Locations: - p.Gln270Pro (Ensembl:ENST00000253247) - c.809A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs546946265 | 270 | Q>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67726604A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726604A>G Locations: - p.Gln270Arg (Ensembl:ENST00000253247) - c.809A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs778382967 | 271 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67726606G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726606G>A Locations: - p.Asp271Asn (Ensembl:ENST00000253247) - c.811G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1440347575 | 272 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67726609C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726609C>A Locations: - p.His272Asn (Ensembl:ENST00000253247) - c.814C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1440347575 | 272 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67726609C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726609C>T Locations: - p.His272Tyr (Ensembl:ENST00000253247) - c.814C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775752641 | 273 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000017.11:g.67726612G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726612G>A Locations: - p.Val273Ile (Ensembl:ENST00000253247) - c.817G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775752641 | 273 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.67726612G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726612G>C Locations: - p.Val273Leu (Ensembl:ENST00000253247) - c.817G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53525526 COSV53525886 rs769009390 | 274 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.03) - PolyPhen: benign (0.066) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000004006 (gnomAD) Accession: NC_000017.11:g.67726615G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726615G>A Locations: - p.A274T (NCI-TCGA:ENST00000253247) - p.Ala274Thr (Ensembl:ENST00000253247) - c.820G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV99474810 | 277 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000017.11:g.67726624G>T Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726624G>T Locations: - c.829G>T (NCI-TCGA:ENST00000253247) - p.G277* (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1173249123 | 277 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67726625G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726625G>A Locations: - p.Gly277Glu (Ensembl:ENST00000253247) - c.830G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1468428390 | 278 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.67726627A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726627A>T Locations: - p.Ser278Cys (Ensembl:ENST00000253247) - c.832A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1336369674 | 278 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000017.11:g.67726628G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726628G>T Locations: - p.Ser278Ile (Ensembl:ENST00000253247) - c.833G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1336369674 | 278 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.67726628G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726628G>A Locations: - p.Ser278Asn (Ensembl:ENST00000253247) - c.833G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055096959 | 279 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000017.11:g.67726631C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726631C>T Locations: - p.Pro279Leu (Ensembl:ENST00000253247) - c.836C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs762118843 | 279 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67726630C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726630C>T Locations: - p.Pro279Ser (Ensembl:ENST00000253247) - c.835C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1200905271 | 281 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67726637C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726637C>A Locations: - p.Ala281Glu (Ensembl:ENST00000253247) - c.842C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs750492735 | 281 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000017.11:g.67726636G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726636G>C Locations: - p.Ala281Pro (Ensembl:ENST00000253247) - c.841G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055097302 | 284 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67726645A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67726645A>G Locations: - p.Lys284Glu (Ensembl:ENST00000253247) - c.850A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1176521215 | 285 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67734364A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734364A>C Locations: - p.Glu285Asp (Ensembl:ENST00000253247) - c.855A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs138092948 | 286 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67734365T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734365T>C Locations: - p.Cys286Arg (Ensembl:ENST00000253247) - c.856T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV53523996 | 286 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000017.11:g.67734366G>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734366G>A Locations: - c.857G>A (NCI-TCGA:ENST00000253247) - p.C286Y (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs760594321 | 287 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67734368C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734368C>T Locations: - p.Leu287Phe (Ensembl:ENST00000253247) - c.859C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs753601468 | 289 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67734374G>C, NC_000017.11:g.67734374G>T Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734374G>C, NC_000017.11:g.67734374G>T Locations: - p.Val289Leu (Ensembl:ENST00000253247) - c.865G>C (Ensembl:ENST00000253247) - c.865G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055182408 | 292 | I>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67734384T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734384T>G Locations: - p.Ile292Arg (Ensembl:ENST00000253247) - c.875T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055182439 | 293 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67734387A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734387A>C Locations: - p.Lys293Thr (Ensembl:ENST00000253247) - c.878A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 295 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67734392C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734392C>G Locations: - c.883C>G (NCI-TCGA:ENST00000253247) - p.Q295E (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs899298002 | 296 | T>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67734396C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734396C>G Locations: - p.Thr296Arg (Ensembl:ENST00000253247) - c.887C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055182592 | 298 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67734402A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734402A>G Locations: - p.Gln298Arg (Ensembl:ENST00000253247) - c.893A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs749918715 | 299 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67734405C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734405C>T Locations: - p.Thr299Ile (Ensembl:ENST00000253247) - c.896C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs749918715 | 299 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67734405C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734405C>A Locations: - p.Thr299Asn (Ensembl:ENST00000253247) - c.896C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs749918715 | 299 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67734405C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734405C>G Locations: - p.Thr299Ser (Ensembl:ENST00000253247) - c.896C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1470476149 | 300 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000017.11:g.67734407T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734407T>G Locations: - p.Ser300Ala (Ensembl:ENST00000253247) - c.898T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1295169140 | 300 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67734408C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734408C>T Locations: - p.Ser300Leu (Ensembl:ENST00000253247) - c.899C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1408971259 | 302 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67734413G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734413G>C Locations: - p.Glu302Gln (Ensembl:ENST00000253247) - c.904G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055182948 | 303 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67734416T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734416T>G Locations: - p.Leu303Val (Ensembl:ENST00000253247) - c.907T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055183046 | 304 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67734420C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734420C>T Locations: - p.Pro304Leu (Ensembl:ENST00000253247) - c.911C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 304 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.522) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67734419C>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734419C>T Locations: - c.910C>T (NCI-TCGA:ENST00000253247) - p.P304S (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1308097181 | 305 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000017.11:g.67734423A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734423A>G Locations: - p.Gln305Arg (Ensembl:ENST00000253247) - c.914A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs372938548 | 307 | T>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000017.11:g.67734429C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734429C>T Locations: - p.Thr307Ile (Ensembl:ENST00000253247) - c.920C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs372938548 | 307 | T>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67734429C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734429C>G Locations: - p.Thr307Ser (Ensembl:ENST00000253247) - c.920C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs201381442 | 308 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.67734432G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734432G>C Locations: - p.Ser308Thr (Ensembl:ENST00000253247) - c.923G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs199677357 | 310 | Q>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67734439A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67734439A>C Locations: - p.Gln310His (Ensembl:ENST00000253247) - c.930A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs781746658 | 311 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67735900C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735900C>T Locations: - p.Leu311Phe (Ensembl:ENST00000253247) - c.931C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055197164 | 312 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735903T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735903T>C Locations: - p.Trp312Arg (Ensembl:ENST00000253247) - c.934T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055197401 | 313 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67735907A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735907A>G Locations: - p.Tyr313Cys (Ensembl:ENST00000253247) - c.938A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055197401 | 313 | Y>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67735907A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735907A>T Locations: - p.Tyr313Phe (Ensembl:ENST00000253247) - c.938A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522621 rs1245848160 | 314 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735910A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735910A>G Locations: - p.Y314C (NCI-TCGA:ENST00000253247) - p.Tyr314Cys (Ensembl:ENST00000253247) - c.941A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs777986267 | 315 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.565) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000017.11:g.67735913G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735913G>A Locations: - p.Gly315Glu (Ensembl:ENST00000253247) - c.944G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs756434791 | 315 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67735912G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735912G>A Locations: - p.Gly315Arg (Ensembl:ENST00000253247) - c.943G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs777986267 | 315 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67735913G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735913G>T Locations: - p.Gly315Val (Ensembl:ENST00000253247) - c.944G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs771026427 | 316 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000017.11:g.67735917A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735917A>C Locations: - p.Glu316Asp (Ensembl:ENST00000253247) - c.948A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055197647 | 316 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67735915G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735915G>A Locations: - p.Glu316Lys (Ensembl:ENST00000253247) - c.946G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1483709043 | 317 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735918C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735918C>T Locations: - p.His317Tyr (Ensembl:ENST00000253247) - c.949C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs778993892 | 318 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000017.11:g.67735923G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735923G>T Locations: - p.Leu318Phe (Ensembl:ENST00000253247) - c.954G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 319 | F>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735924T>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735924T>A Locations: - c.955T>A (NCI-TCGA:ENST00000253247) - p.F319I (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99474886 | 320 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.67735928T>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735928T>C Locations: - c.959T>C (NCI-TCGA:ENST00000253247) - p.M320T (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs768591011 | 322 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67735934A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735934A>G Locations: - p.His322Arg (Ensembl:ENST00000253247) - c.965A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055197871 | 324 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.328) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735939A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735939A>G Locations: - p.Lys324Glu (Ensembl:ENST00000253247) - c.970A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 324 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735940A>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735940A>C Locations: - c.971A>C (NCI-TCGA:ENST00000253247) - p.K324T (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2055197906 | 325 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000017.11:g.67735942T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735942T>A Locations: - p.Ser325Thr (Ensembl:ENST00000253247) - c.973T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99474871 rs1389332658 | 325 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.95) - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000017.11:g.67735943C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735943C>A Locations: - p.S325Y (NCI-TCGA:ENST00000253247) - p.Ser325Tyr (Ensembl:ENST00000253247) - c.974C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 326 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735946T>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735946T>C Locations: - c.977T>C (NCI-TCGA:ENST00000253247) - p.L326P (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs776480478 | 326 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735945C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735945C>G Locations: - p.Leu326Val (Ensembl:ENST00000253247) - c.976C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055198061 | 328 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735952T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735952T>G Locations: - p.Val328Gly (Ensembl:ENST00000253247) - c.983T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055198092 | 330 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000017.11:g.67735958C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735958C>T Locations: - p.Pro330Leu (Ensembl:ENST00000253247) - c.989C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1406691168 | 331 | Y>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67735962C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735962C>A Locations: - p.Tyr331Ter (Ensembl:ENST00000253247) - c.993C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761656261 | 331 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67735961A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735961A>G Locations: - p.Tyr331Cys (Ensembl:ENST00000253247) - c.992A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1172581398 | 332 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.67735963A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735963A>G Locations: - p.Lys332Glu (Ensembl:ENST00000253247) - c.994A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1334334530 | 333 | C>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735966T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735966T>G Locations: - p.Cys333Gly (Ensembl:ENST00000253247) - c.997T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1381013346 | 333 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735967G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735967G>A Locations: - p.Cys333Tyr (Ensembl:ENST00000253247) - c.998G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs376874619 | 334 | E>D | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67735971A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735971A>C Locations: - p.Glu334Asp (Ensembl:ENST00000253247) - c.1002A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1452402608 | 334 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.67735969G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735969G>A Locations: - p.Glu334Lys (Ensembl:ENST00000253247) - c.1000G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1465662513 | 340 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735988G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735988G>A Locations: - p.Gly340Asp (Ensembl:ENST00000253247) - c.1019G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 340 | G>V | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.67735987del Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735987del Locations: - c.1019del (NCI-TCGA:ENST00000253247) - p.G340Vfs*21 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1312890662 | 341 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67735991C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67735991C>G Locations: - p.Ala341Gly (Ensembl:ENST00000253247) - c.1022C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs974950969 | 344 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67736000A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736000A>G Locations: - p.Lys344Arg (Ensembl:ENST00000253247) - c.1031A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs974950969 | 344 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67736000A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736000A>C Locations: - p.Lys344Thr (Ensembl:ENST00000253247) - c.1031A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055198710 | 345 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67736002C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736002C>G Locations: - p.Leu345Val (Ensembl:ENST00000253247) - c.1033C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143128574 | 346 | K>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67736006A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736006A>T Locations: - p.Lys346Met (Ensembl:ENST00000253247) - c.1037A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1220962418 | 349 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67736015A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736015A>T Locations: - p.Gln349Leu (Ensembl:ENST00000253247) - c.1046A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1220962418 | 349 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67736015A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736015A>C Locations: - p.Gln349Pro (Ensembl:ENST00000253247) - c.1046A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs768143420 | 351 | P>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67736021C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736021C>G Locations: - p.Pro351Arg (Ensembl:ENST00000253247) - c.1052C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055204877 | 353 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67736669C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736669C>T Locations: - p.Thr353Ile (Ensembl:ENST00000253247) - c.1058C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1208364921 | 354 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.67736673T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736673T>G Locations: - p.His354Gln (Ensembl:ENST00000253247) - c.1062T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1257227369 | 354 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000017.11:g.67736672A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736672A>G Locations: - p.His354Arg (Ensembl:ENST00000253247) - c.1061A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1323103969 | 354 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.67736671C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736671C>T Locations: - p.His354Tyr (Ensembl:ENST00000253247) - c.1060C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs770722856 | 355 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.67736674G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736674G>A Locations: - p.Val355Ile (Ensembl:ENST00000253247) - c.1063G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs770722856 | 355 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.67736674G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736674G>C Locations: - p.Val355Leu (Ensembl:ENST00000253247) - c.1063G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs142890724 | 356 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.67736677G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736677G>A Locations: - p.Val356Met (Ensembl:ENST00000253247) - c.1066G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs774830500 | 358 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.67736685T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736685T>G Locations: - p.His358Gln (Ensembl:ENST00000253247) - c.1074T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1325233526 | 358 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.67736684A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736684A>G Locations: - p.His358Arg (Ensembl:ENST00000253247) - c.1073A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1231006617 | 358 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.465) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67736683C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736683C>T Locations: - p.His358Tyr (Ensembl:ENST00000253247) - c.1072C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs182958630 | 359 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67736688T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736688T>A Locations: - p.Phe359Leu (Ensembl:ENST00000253247) - c.1077T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1490686647 | 360 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67736690T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736690T>G Locations: - p.Val360Gly (Ensembl:ENST00000253247) - c.1079T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1472706556 | 365 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000017.11:g.67736705C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736705C>T Locations: - p.Pro365Leu (Ensembl:ENST00000253247) - c.1094C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1428095109 | 365 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.67736704C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736704C>T Locations: - p.Pro365Ser (Ensembl:ENST00000253247) - c.1093C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761273776 | 368 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000017.11:g.67736713T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736713T>C Locations: - p.Cys368Arg (Ensembl:ENST00000253247) - c.1102T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1399343267 | 368 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67736714G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736714G>A Locations: - p.Cys368Tyr (Ensembl:ENST00000253247) - c.1103G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055205459 | 369 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000017.11:g.67736716G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736716G>A Locations: - p.Gly369Arg (Ensembl:ENST00000253247) - c.1105G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 370 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000017.11:g.67736719C>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736719C>T Locations: - c.1108C>T (NCI-TCGA:ENST00000253247) - p.L370F (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1567804351 | 370 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67736720T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736720T>C Locations: - p.Leu370Pro (Ensembl:ENST00000253247) - c.1109T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1221801802 | 371 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000017.11:g.67736723G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736723G>C Locations: - p.Gly371Ala (Ensembl:ENST00000253247) - c.1112G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1221801802 | 371 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67736723G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736723G>A Locations: - p.Gly371Glu (Ensembl:ENST00000253247) - c.1112G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs199611919 | 374 | N>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67736732A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736732A>G Locations: - p.Asn374Ser (Ensembl:ENST00000253247) - c.1121A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs192561539 | 375 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67736735C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736735C>T Locations: - p.Ser375Leu (Ensembl:ENST00000253247) - c.1124C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs146115629 | 375 | S>P | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67736734T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736734T>C Locations: - p.Ser375Pro (Ensembl:ENST00000253247) - c.1123T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055205725 | 379 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67736746A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736746A>G Locations: - p.Arg379Gly (Ensembl:ENST00000253247) - c.1135A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs866658867 | 379 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000017.11:g.67736747G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736747G>A Locations: - p.Arg379Lys (Ensembl:ENST00000253247) - c.1136G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs138983162 | 380 | R>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67736750G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736750G>T Locations: - p.Arg380Ile (Ensembl:ENST00000253247) - c.1139G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs138983162 | 380 | R>K | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.67736750G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736750G>A Locations: - p.Arg380Lys (Ensembl:ENST00000253247) - c.1139G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1424119473 | 381 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67736754T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67736754T>G Locations: - p.Ile381Met (Ensembl:ENST00000253247) - c.1143T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055208610 | 382 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737073A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737073A>C Locations: - p.Leu382Phe (Ensembl:ENST00000253247) - c.1146A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 382 | L>Y | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.67737072_67737075TAAG>ACT Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737072_67737075TAAG>ACT Locations: - c.1145_1148delinsACT (NCI-TCGA:ENST00000253247) - p.L382Yfs*2 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs368061961 | 384 | R>G | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.67737077A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737077A>G Locations: - p.Arg384Gly (Ensembl:ENST00000253247) - c.1150A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs765643177 | 384 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000017.11:g.67737078G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737078G>A Locations: - p.Arg384Lys (Ensembl:ENST00000253247) - c.1151G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs750759556 | 385 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737080C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737080C>T Locations: - p.Arg385Ter (Ensembl:ENST00000253247) - c.1153C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
TCGA novel | 385 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737081G>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737081G>T Locations: - c.1154G>T (NCI-TCGA:ENST00000253247) - p.R385L (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1197038288 | 385 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.03) - PolyPhen: benign (0.041) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000003987 (gnomAD) Accession: NC_000017.11:g.67737081G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737081G>A Locations: - p.R385Q (NCI-TCGA:ENST00000253247) - p.Arg385Gln (Ensembl:ENST00000253247) - c.1154G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs758654424 | 386 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67737083A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737083A>G Locations: - p.Lys386Glu (Ensembl:ENST00000253247) - c.1156A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1428971469 | 387 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.67737086A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737086A>C Locations: - p.Ile387Leu (Ensembl:ENST00000253247) - c.1159A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs751675054 | 389 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000017.11:g.67737093T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737093T>C Locations: - p.Val389Ala (Ensembl:ENST00000253247) - c.1166T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs766541940 | 389 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67737092G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737092G>A Locations: - p.Val389Met (Ensembl:ENST00000253247) - c.1165G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs370528879 | 390 | S>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67737095A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737095A>G Locations: - p.Ser390Gly (Ensembl:ENST00000253247) - c.1168A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs370528879 | 390 | S>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67737095A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737095A>C Locations: - p.Ser390Arg (Ensembl:ENST00000253247) - c.1168A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1567804542 | 391 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737099T>A Codon: TTA/TAA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737099T>A Locations: - p.Leu391Ter (Ensembl:ENST00000253247) - c.1172T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1446876712 | 392 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737101C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737101C>T Locations: - p.Gln392Ter (Ensembl:ENST00000253247) - c.1174C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475106 | 392 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000017.11:g.67737103G>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737103G>T Locations: - c.1176G>T (NCI-TCGA:ENST00000253247) - p.Q392H (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1372987270 | 395 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67737110G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737110G>T Locations: - p.Val395Phe (Ensembl:ENST00000253247) - c.1183G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055209350 | 396 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000017.11:g.67737114C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737114C>A Locations: - p.Pro396Gln (Ensembl:ENST00000253247) - c.1187C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055209318 | 396 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000017.11:g.67737113C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737113C>T Locations: - p.Pro396Ser (Ensembl:ENST00000253247) - c.1186C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1462504932 | 397 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67737117C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737117C>G Locations: - p.Pro397Arg (Ensembl:ENST00000253247) - c.1190C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99474910 | 399 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000017.11:g.67737122A>T Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737122A>T Locations: - c.1195A>T (NCI-TCGA:ENST00000253247) - p.K399* (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs757229180 | 399 | K>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67737123A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737123A>T Locations: - p.Lys399Ile (Ensembl:ENST00000253247) - c.1196A>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs757229180 | 399 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.67737123A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737123A>G Locations: - p.Lys399Arg (Ensembl:ENST00000253247) - c.1196A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs985064413 | 401 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000017.11:g.67737128C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737128C>G Locations: - p.Leu401Val (Ensembl:ENST00000253247) - c.1201C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1394497331 | 402 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737132T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737132T>C Locations: - p.Leu402Ser (Ensembl:ENST00000253247) - c.1205T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1409603438 | 404 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000017.11:g.67737137A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737137A>G Locations: - p.Thr404Ala (Ensembl:ENST00000253247) - c.1210A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1319745888 | 405 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737142A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737142A>G Locations: - p.Ile405Met (Ensembl:ENST00000253247) - c.1215A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1337686577 | 405 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67737140A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737140A>G Locations: - p.Ile405Val (Ensembl:ENST00000253247) - c.1213A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs199959325 | 406 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737145G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737145G>A Locations: - p.Met406Ile (Ensembl:ENST00000253247) - c.1218G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs752785068 | 407 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67737509A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737509A>C Locations: - p.Lys407Thr (Ensembl:ENST00000253247) - c.1220A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055213081 | 408 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737511G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737511G>T Locations: - p.Asp408Tyr (Ensembl:ENST00000253247) - c.1222G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055213117 | 409 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67737514T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737514T>G Locations: - p.Ser409Ala (Ensembl:ENST00000253247) - c.1225T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1202117035 | 410 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000017.11:g.67737517G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737517G>A Locations: - p.Glu410Lys (Ensembl:ENST00000253247) - c.1228G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1054062004 | 411 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737520A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737520A>T Locations: - p.Lys411Ter (Ensembl:ENST00000253247) - c.1231A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055213245 | 411 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.67737521A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737521A>C Locations: - p.Lys411Thr (Ensembl:ENST00000253247) - c.1232A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1320992113 | 412 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67737524A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737524A>C Locations: - p.His412Pro (Ensembl:ENST00000253247) - c.1235A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs375089506 | 413 | I>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737527T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737527T>A Locations: - p.Ile413Asn (Ensembl:ENST00000253247) - c.1238T>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs375089506 | 413 | I>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67737527T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737527T>C Locations: - p.Ile413Thr (Ensembl:ENST00000253247) - c.1238T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs914018372 | 413 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67737526A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737526A>G Locations: - p.Ile413Val (Ensembl:ENST00000253247) - c.1237A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1235036857 | 414 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67737531A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737531A>T Locations: - p.Glu414Asp (Ensembl:ENST00000253247) - c.1242A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs778934448 | 414 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737530A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737530A>G Locations: - p.Glu414Gly (Ensembl:ENST00000253247) - c.1241A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs750244318 | 415 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67737532G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737532G>A Locations: - p.Val415Ile (Ensembl:ENST00000253247) - c.1243G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs779882381 | 418 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000017.11:g.67737542G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737542G>A Locations: - p.Arg418Gln (Ensembl:ENST00000253247) - c.1253G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs758332756 | 418 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67737541C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737541C>T Locations: - p.Arg418Trp (Ensembl:ENST00000253247) - c.1252C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs142174717 | 419 | K>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.15) - SIFT: tolerated (0.37) Somatic: No Population frequencies: - MAF: 0.00196232 (1000Genomes) Accession: NC_000017.11:g.67737545A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737545A>G Locations: - p.Lys419Arg (Ensembl:ENST00000253247) - c.1256A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs768327714 | 420 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737548T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737548T>G Locations: - p.Phe420Cys (Ensembl:ENST00000253247) - c.1259T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 421 | L>F | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.67737546_67737547insT Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737546_67737547insT Locations: - c.1262dup (NCI-TCGA:ENST00000253247) - p.L421Ffs*8 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1047024799 | 425 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737562C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737562C>T Locations: - p.Gln425Ter (Ensembl:ENST00000253247) - c.1273C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1047024799 | 425 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000017.11:g.67737562C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737562C>A Locations: - p.Gln425Lys (Ensembl:ENST00000253247) - c.1273C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53521666 | 426 | T>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000017.11:g.67737566del Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737566del Locations: - c.1277del (NCI-TCGA:ENST00000253247) - p.T426Nfs*12 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1207492803 | 427 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67737568C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737568C>G Locations: - p.Pro427Ala (Ensembl:ENST00000253247) - c.1279C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1176027309 | 427 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737569C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737569C>G Locations: - p.Pro427Arg (Ensembl:ENST00000253247) - c.1280C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523193 | 428 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000017.11:g.67737573C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737573C>G Locations: - c.1284C>G (NCI-TCGA:ENST00000253247) - p.D428E (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs11546851 | 428 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67737572A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737572A>G Locations: - p.Asp428Gly (Ensembl:ENST00000253247) - c.1283A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055213964 | 428 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737571G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737571G>C Locations: - p.Asp428His (Ensembl:ENST00000253247) - c.1282G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1599046894 | 430 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737578A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737578A>C Locations: - p.His430Pro (Ensembl:ENST00000253247) - c.1289A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs770302313 | 430 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67737579T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737579T>G Locations: - p.His430Gln (Ensembl:ENST00000253247) - c.1290T>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1599046894 | 430 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67737578A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737578A>G Locations: - p.His430Arg (Ensembl:ENST00000253247) - c.1289A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1287011200 | 431 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000017.11:g.67737581C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737581C>T Locations: - p.Thr431Ile (Ensembl:ENST00000253247) - c.1292C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs763448323 | 433 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67737588T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737588T>G Locations: - p.Ile433Met (Ensembl:ENST00000253247) - c.1299T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53524679 rs547196290 | 433 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.12) - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000017.11:g.67737587T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737587T>C Locations: - p.I433T (NCI-TCGA:ENST00000253247) - p.Ile433Thr (Ensembl:ENST00000253247) - c.1298T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV99036774 | 433 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.53) Somatic: Yes Accession: NC_000017.11:g.67737586A>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737586A>G Locations: - c.1297A>G (NCI-TCGA:ENST00000253247) - p.I433V (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs868227935 | 434 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.67737590G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737590G>C Locations: - p.Gly434Ala (Ensembl:ENST00000253247) - c.1301G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs868227935 | 434 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67737590G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737590G>A Locations: - p.Gly434Glu (Ensembl:ENST00000253247) - c.1301G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs771257686 | 435 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000017.11:g.67737592G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737592G>C Locations: - p.Asp435His (Ensembl:ENST00000253247) - c.1303G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143133286 | 436 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737595A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737595A>G Locations: - p.Thr436Ala (Ensembl:ENST00000253247) - c.1306A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1403920192 | 436 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67737596C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737596C>T Locations: - p.Thr436Ile (Ensembl:ENST00000253247) - c.1307C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1054036370 | 437 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.378) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737599T>A Codon: GTA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737599T>A Locations: - p.Val437Glu (Ensembl:ENST00000253247) - c.1310T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1054036370 | 437 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737599T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737599T>G Locations: - p.Val437Gly (Ensembl:ENST00000253247) - c.1310T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99474868 | 439 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000017.11:g.67737604G>T Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737604G>T Locations: - c.1315G>T (NCI-TCGA:ENST00000253247) - p.G439* (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523806 | 439 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000017.11:g.67737605G>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737605G>T Locations: - c.1316G>T (NCI-TCGA:ENST00000253247) - p.G439V (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1011253058 | 440 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737607C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737607C>T Locations: - p.Leu440Phe (Ensembl:ENST00000253247) - c.1318C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs759706997 | 442 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000017.11:g.67737614A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737614A>G Locations: - p.Glu442Gly (Ensembl:ENST00000253247) - c.1325A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1239147562 | 442 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.67737613G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737613G>A Locations: - p.Glu442Lys (Ensembl:ENST00000253247) - c.1324G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs767730280 | 443 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737616A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737616A>G Locations: - p.Arg443Gly (Ensembl:ENST00000253247) - c.1327A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs767730280 | 443 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737616A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737616A>T Locations: - p.Arg443Trp (Ensembl:ENST00000253247) - c.1327A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1019935434 | 444 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67737620G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737620G>A Locations: - p.Cys444Tyr (Ensembl:ENST00000253247) - c.1331G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs752836245 | 445 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.67737622A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737622A>G Locations: - p.Lys445Glu (Ensembl:ENST00000253247) - c.1333A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV53524956 | 445 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000017.11:g.67737624A>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737624A>C Locations: - c.1335A>C (NCI-TCGA:ENST00000253247) - p.K445N (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1215556826 | 445 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67737623A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737623A>C Locations: - p.Lys445Thr (Ensembl:ENST00000253247) - c.1334A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99474823 | 446 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000017.11:g.67737626C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737626C>G Locations: - c.1337C>G (NCI-TCGA:ENST00000253247) - p.A446G (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs760769113 | 446 | A>S | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67737625G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737625G>T Locations: - p.Ala446Ser (Ensembl:ENST00000253247) - c.1336G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1473119112 | 446 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67737626C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737626C>T Locations: - p.Ala446Val (Ensembl:ENST00000253247) - c.1337C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475333 | 448 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000017.11:g.67737631C>T Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737631C>T Locations: - c.1342C>T (NCI-TCGA:ENST00000253247) - p.P448S (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055214866 | 449 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67737635C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737635C>T Locations: - p.Ser449Leu (Ensembl:ENST00000253247) - c.1346C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055214830 | 449 | S>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.67737634T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737634T>A Locations: - p.Ser449Thr (Ensembl:ENST00000253247) - c.1345T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs758329724 | 453 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.69) - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000017.11:g.67737647G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737647G>A Locations: - p.R453Q (NCI-TCGA:ENST00000253247) - p.Arg453Gln (Ensembl:ENST00000253247) - c.1358G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs150891541 | 453 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737646C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737646C>T Locations: - p.Arg453Trp (Ensembl:ENST00000253247) - c.1357C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV53524138 | 455 | C>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000017.11:g.67737654T>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737654T>G Locations: - c.1365T>G (NCI-TCGA:ENST00000253247) - p.C455W (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1318388580 | 456 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737655C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737655C>G Locations: - p.Leu456Val (Ensembl:ENST00000253247) - c.1366C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs779758236 | 457 | M>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737659T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737659T>G Locations: - p.Met457Arg (Ensembl:ENST00000253247) - c.1370T>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs779758236 | 457 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000017.11:g.67737659T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737659T>C Locations: - p.Met457Thr (Ensembl:ENST00000253247) - c.1370T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1425219366 | 458 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737661C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737661C>T Locations: - p.Gln458Ter (Ensembl:ENST00000253247) - c.1372C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055215105 | 458 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67737663G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737663G>C Locations: - p.Gln458His (Ensembl:ENST00000253247) - c.1374G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs773716694 | 459 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67737664C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737664C>A Locations: - p.Leu459Ile (Ensembl:ENST00000253247) - c.1375C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1222831859 | 460 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737668T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737668T>G Locations: - p.Ile460Ser (Ensembl:ENST00000253247) - c.1379T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055215220 | 460 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67737667A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737667A>G Locations: - p.Ile460Val (Ensembl:ENST00000253247) - c.1378A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs754612118 | 461 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000017.11:g.67737672A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737672A>C Locations: - p.Gln461His (Ensembl:ENST00000253247) - c.1383A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs780769053 | 462 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67737674C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737674C>T Locations: - p.Thr462Met (Ensembl:ENST00000253247) - c.1385C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs139420664 | 463 | H>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.81) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000017.11:g.67737677A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737677A>G Locations: - p.His463Arg (Ensembl:ENST00000253247) - c.1388A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055215547 | 468 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737691A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737691A>G Locations: - p.Ser468Gly (Ensembl:ENST00000253247) - c.1402A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055217118 | 469 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737850G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737850G>T Locations: - p.Leu469Phe (Ensembl:ENST00000253247) - c.1407G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1228313926 | 470 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737851T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737851T>C Locations: - p.Cys470Arg (Ensembl:ENST00000253247) - c.1408T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1309377565 | 471 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737854C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737854C>A Locations: - p.Pro471Thr (Ensembl:ENST00000253247) - c.1411C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53525630 rs1041219889 | 472 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.17) - PolyPhen: benign (0.113) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00002815 (gnomAD) Accession: NC_000017.11:g.67737857G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737857G>A Locations: - p.D472N (NCI-TCGA:ENST00000253247) - p.Asp472Asn (Ensembl:ENST00000253247) - c.1414G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1461571955 | 475 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67737867A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737867A>G Locations: - p.Glu475Gly (Ensembl:ENST00000253247) - c.1424A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522827 COSV53522990 | 475 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000017.11:g.67737866G>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737866G>A Locations: - c.1423G>A (NCI-TCGA:ENST00000253247) - p.E475K (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs766606404 | 476 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67737869A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737869A>G Locations: - p.Ile476Val (Ensembl:ENST00000253247) - c.1426A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1567804951 | 482 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737888A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737888A>G Locations: - p.Asp482Gly (Ensembl:ENST00000253247) - c.1445A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055217555 | 482 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737887G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737887G>A Locations: - p.Asp482Asn (Ensembl:ENST00000253247) - c.1444G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 485 | L>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737897T>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737897T>C Locations: - c.1454T>C (NCI-TCGA:ENST00000253247) - p.L485S (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1187077461 | 486 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67737899T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737899T>G Locations: - p.Leu486Val (Ensembl:ENST00000253247) - c.1456T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1426237262 | 488 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737905C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737905C>T Locations: - p.Leu488Phe (Ensembl:ENST00000253247) - c.1462C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1339094001 | 491 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737914C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737914C>T Locations: - p.Gln491Ter (Ensembl:ENST00000253247) - c.1471C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs772541329 | 492 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67737917C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737917C>T Locations: - p.Gln492Ter (Ensembl:ENST00000253247) - c.1474C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775972108 | 493 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737920T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737920T>C Locations: - p.Phe493Leu (Ensembl:ENST00000253247) - c.1477T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1208248288 | 493 | F>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737921T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737921T>A Locations: - p.Phe493Tyr (Ensembl:ENST00000253247) - c.1478T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1567805024 | 494 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737924C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737924C>T Locations: - p.Pro494Leu (Ensembl:ENST00000253247) - c.1481C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs376282778 | 496 | I>V | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67737929A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737929A>G Locations: - p.Ile496Val (Ensembl:ENST00000253247) - c.1486A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs747270268 | 498 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67737937A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737937A>C Locations: - p.Glu498Asp (Ensembl:ENST00000253247) - c.1494A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs764690858 | 499 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67737938T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737938T>A Locations: - p.Ser499Thr (Ensembl:ENST00000253247) - c.1495T>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs776877033 | 501 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67737945C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737945C>T Locations: - p.Thr501Ile (Ensembl:ENST00000253247) - c.1502C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1280553808 | 503 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67737951C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737951C>G Locations: - p.Ala503Gly (Ensembl:ENST00000253247) - c.1508C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs189075538 | 507 | I>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.69) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67737962A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737962A>C Locations: - p.Ile507Leu (Ensembl:ENST00000253247) - c.1519A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1441680795 | 507 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.67737964T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737964T>G Locations: - p.Ile507Met (Ensembl:ENST00000253247) - c.1521T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs189075538 | 507 | I>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.96) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67737962A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737962A>G Locations: - p.Ile507Val (Ensembl:ENST00000253247) - c.1519A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523032 | 508 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.67737967C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737967C>G Locations: - c.1524C>G (NCI-TCGA:ENST00000253247) - p.F508L (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV104387459 | 508 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.67737965T>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737965T>G Locations: - c.1522T>G (NCI-TCGA:ENST00000253247) - p.F508V (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs766235239 COSV53521941 COSV53523966 | 509 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed gnomAD NCI-TCGA Cosmic dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.536) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004142 (gnomAD) Accession: NC_000017.11:g.67737970G>C, NC_000017.11:g.67737970G>T Codon: TTG/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737970G>C, NC_000017.11:g.67737970G>T Locations: - p.Leu509Phe (Ensembl:ENST00000253247) - c.1527G>C (Ensembl:ENST00000253247) - p.L509F (NCI-TCGA:ENST00000253247) - c.1527G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
TCGA novel | 510 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67737971A>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67737971A>C Locations: - c.1528A>C (NCI-TCGA:ENST00000253247) - p.S510R (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV53524786 rs2055219863 | 511 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.37) - PolyPhen: benign (0.029) - SIFT: tolerated (0.31) Somatic: Yes Accession: NC_000017.11:g.67738123A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738123A>G Locations: - p.I511V (NCI-TCGA:ENST00000253247) - p.Ile511Val (Ensembl:ENST00000253247) - c.1531A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055219907 | 512 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67738127G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738127G>T Locations: - p.Gly512Val (Ensembl:ENST00000253247) - c.1535G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1477867309 | 515 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.67738135A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738135A>G Locations: - p.Ser515Gly (Ensembl:ENST00000253247) - c.1543A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1001915136 | 515 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67738136G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738136G>A Locations: - p.Ser515Asn (Ensembl:ENST00000253247) - c.1544G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs149869108 | 516 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67738138C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738138C>T Locations: - p.Leu516Phe (Ensembl:ENST00000253247) - c.1546C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1336523883 | 519 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000017.11:g.67738147A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738147A>G Locations: - p.Thr519Ala (Ensembl:ENST00000253247) - c.1555A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1418373764 | 521 | V>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738154T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738154T>A Locations: - p.Val521Asp (Ensembl:ENST00000253247) - c.1562T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055220202 | 522 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.508) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67738156A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738156A>C Locations: - p.Asn522His (Ensembl:ENST00000253247) - c.1564A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1158625200 | 522 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000017.11:g.67738157A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738157A>G Locations: - p.Asn522Ser (Ensembl:ENST00000253247) - c.1565A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs748317987 | 523 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.67738161G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738161G>A Locations: - p.Met523Ile (Ensembl:ENST00000253247) - c.1569G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs150279090 | 524 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67738162G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738162G>C Locations: - p.Glu524Gln (Ensembl:ENST00000253247) - c.1570G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1392958056 | 525 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738166C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738166C>T Locations: - p.Ser525Leu (Ensembl:ENST00000253247) - c.1574C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1301450723 | 528 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000017.11:g.67738175A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738175A>G Locations: - p.Asp528Gly (Ensembl:ENST00000253247) - c.1583A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 528 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000017.11:g.67738174G>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738174G>A Locations: - c.1582G>A (NCI-TCGA:ENST00000253247) - p.D528N (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs540705052 | 529 | Y>C | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67738178A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738178A>G Locations: - p.Tyr529Cys (Ensembl:ENST00000253247) - c.1586A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1330656873 | 529 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.67738177T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738177T>C Locations: - p.Tyr529His (Ensembl:ENST00000253247) - c.1585T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143135202 | 530 | S>N | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.67738181G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738181G>A Locations: - p.Ser530Asn (Ensembl:ENST00000253247) - c.1589G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055220516 | 530 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.67738180A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738180A>C Locations: - p.Ser530Arg (Ensembl:ENST00000253247) - c.1588A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs771958121 | 531 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.67738185A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738185A>G Locations: - p.Ile531Met (Ensembl:ENST00000253247) - c.1593A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1370962758 | 533 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67738190C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738190C>A Locations: - p.Ser533Tyr (Ensembl:ENST00000253247) - c.1598C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143135244 | 534 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000017.11:g.67738193T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738193T>C Locations: - p.Val534Ala (Ensembl:ENST00000253247) - c.1601T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1162101661 | 534 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000017.11:g.67738192G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738192G>A Locations: - p.Val534Ile (Ensembl:ENST00000253247) - c.1600G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1292443793 | 535 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67738196A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738196A>T Locations: - p.His535Leu (Ensembl:ENST00000253247) - c.1604A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1292443793 | 535 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.67738196A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738196A>G Locations: - p.His535Arg (Ensembl:ENST00000253247) - c.1604A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1239314830 | 535 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67738195C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738195C>T Locations: - p.His535Tyr (Ensembl:ENST00000253247) - c.1603C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775277312 | 536 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67738198G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738198G>C Locations: - p.Asp536His (Ensembl:ENST00000253247) - c.1606G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775277312 | 536 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000017.11:g.67738198G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738198G>A Locations: - p.Asp536Asn (Ensembl:ENST00000253247) - c.1606G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055220819 | 537 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.67738202A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738202A>C Locations: - p.Glu537Ala (Ensembl:ENST00000253247) - c.1610A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs760396053 | 537 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000017.11:g.67738201G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738201G>A Locations: - p.Glu537Lys (Ensembl:ENST00000253247) - c.1609G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs143893275 | 538 | K>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.67738206A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738206A>C Locations: - p.Lys538Asn (Ensembl:ENST00000253247) - c.1614A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs753584336 | 539 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.67738209G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738209G>T Locations: - p.Met539Ile (Ensembl:ENST00000253247) - c.1617G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055220946 | 540 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.67738212A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738212A>T Locations: - p.Glu540Asp (Ensembl:ENST00000253247) - c.1620A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1183498795 | 540 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67738210G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738210G>A Locations: - p.Glu540Lys (Ensembl:ENST00000253247) - c.1618G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761347492 | 541 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000017.11:g.67738214A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738214A>C Locations: - p.Glu541Ala (Ensembl:ENST00000253247) - c.1622A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs761347492 | 541 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67738214A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738214A>G Locations: - p.Glu541Gly (Ensembl:ENST00000253247) - c.1622A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs764840042 | 542 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.67738217A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738217A>G Locations: - p.Gln542Arg (Ensembl:ENST00000253247) - c.1625A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475268 | 544 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000017.11:g.67738222G>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738222G>C Locations: - c.1630G>C (NCI-TCGA:ENST00000253247) - p.E544Q (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055221093 | 545 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.457) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67738226T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738226T>G Locations: - p.Ile545Ser (Ensembl:ENST00000253247) - c.1634T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475104 rs2055221131 | 547 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: stop gained Somatic: Yes Accession: NC_000017.11:g.67738231C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738231C>T Locations: - p.Q547* (NCI-TCGA:ENST00000253247) - p.Gln547Ter (Ensembl:ENST00000253247) - c.1639C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs780653385 | 548 | N>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738234A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738234A>T Locations: - p.Asn548Tyr (Ensembl:ENST00000253247) - c.1642A>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055221509 | 549 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738238G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738238G>A Locations: - p.Gly549Asp (Ensembl:ENST00000253247) - c.1646G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475301 COSV99475308 rs2055221509 | 549 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738238G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738238G>T Locations: - p.G549V (NCI-TCGA:ENST00000253247) - p.Gly549Val (Ensembl:ENST00000253247) - c.1646G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs144354389 | 551 | N>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67738244A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738244A>G Locations: - p.Asn551Ser (Ensembl:ENST00000253247) - c.1652A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055221718 | 552 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.67738246C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738246C>T Locations: - p.Pro552Ser (Ensembl:ENST00000253247) - c.1654C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs377520875 | 553 | E>K | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.67738249G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738249G>A Locations: - p.Glu553Lys (Ensembl:ENST00000253247) - c.1657G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs781398729 | 554 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000017.11:g.67738252G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738252G>A Locations: - p.Glu554Lys (Ensembl:ENST00000253247) - c.1660G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs769878659 | 555 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000017.11:g.67738257T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738257T>A Locations: - p.Asp555Glu (Ensembl:ENST00000253247) - c.1665T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs748452029 | 555 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000017.11:g.67738255G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738255G>A Locations: - p.Asp555Asn (Ensembl:ENST00000253247) - c.1663G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1445814939 | 556 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67738258A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738258A>G Locations: - p.Lys556Glu (Ensembl:ENST00000253247) - c.1666A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs922747550 | 558 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000017.11:g.67738265A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738265A>G Locations: - p.Asn558Ser (Ensembl:ENST00000253247) - c.1673A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs749307765 | 561 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.67738274A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738274A>G Locations: - p.Asp561Gly (Ensembl:ENST00000253247) - c.1682A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs147822090 | 562 | Q>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67738276C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738276C>G Locations: - p.Gln562Glu (Ensembl:ENST00000253247) - c.1684C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1351447743 | 562 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67738277A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738277A>C Locations: - p.Gln562Pro (Ensembl:ENST00000253247) - c.1685A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1351447743 | 562 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000017.11:g.67738277A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738277A>G Locations: - p.Gln562Arg (Ensembl:ENST00000253247) - c.1685A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1281516689 | 563 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.67738280A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738280A>G Locations: - p.Glu563Gly (Ensembl:ENST00000253247) - c.1688A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53525309 rs2055222242 | 563 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: Yes Accession: NC_000017.11:g.67738279G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738279G>A Locations: - p.E563K (NCI-TCGA:ENST00000253247) - p.Glu563Lys (Ensembl:ENST00000253247) - c.1687G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055222350 | 565 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000017.11:g.67738285A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738285A>G Locations: - p.Asn565Asp (Ensembl:ENST00000253247) - c.1693A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs760592317 | 566 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67738289A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738289A>G Locations: - p.Lys566Arg (Ensembl:ENST00000253247) - c.1697A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs141291873 | 568 | P>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.33) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000017.11:g.67738294C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738294C>T Locations: - p.Pro568Ser (Ensembl:ENST00000253247) - c.1702C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475299 | 570 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: Yes Accession: NC_000017.11:g.67738300G>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738300G>A Locations: - c.1708G>A (NCI-TCGA:ENST00000253247) - p.D570N (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs764745161 | 571 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67738303G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738303G>A Locations: - p.Glu571Lys (Ensembl:ENST00000253247) - c.1711G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055222670 | 572 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.67738307C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738307C>T Locations: - p.Thr572Ile (Ensembl:ENST00000253247) - c.1715C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs200082532 | 573 | K>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.88) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000017.11:g.67738309A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738309A>G Locations: - p.Lys573Glu (Ensembl:ENST00000253247) - c.1717A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53523689 | 574 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.48) Somatic: Yes Accession: NC_000017.11:g.67738312G>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738312G>A Locations: - c.1720G>A (NCI-TCGA:ENST00000253247) - p.E574K (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143135918 | 575 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.67738315A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738315A>T Locations: - p.Ser575Cys (Ensembl:ENST00000253247) - c.1723A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs201494014 | 575 | S>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67738316G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738316G>T Locations: - p.Ser575Ile (Ensembl:ENST00000253247) - c.1724G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs201494014 | 575 | S>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000017.11:g.67738316G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738316G>A Locations: - p.Ser575Asn (Ensembl:ENST00000253247) - c.1724G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1475797990 | 575 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000017.11:g.67738317C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738317C>G Locations: - p.Ser575Arg (Ensembl:ENST00000253247) - c.1725C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs752173975 | 576 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.67738319C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738319C>T Locations: - p.Thr576Ile (Ensembl:ENST00000253247) - c.1727C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs752173975 | 576 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000017.11:g.67738319C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738319C>G Locations: - p.Thr576Ser (Ensembl:ENST00000253247) - c.1727C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1464857843 | 577 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000017.11:g.67738321T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738321T>G Locations: - p.Ser577Ala (Ensembl:ENST00000253247) - c.1729T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1037066075 | 577 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.67738322C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738322C>T Locations: - p.Ser577Leu (Ensembl:ENST00000253247) - c.1730C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs755520246 | 578 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738324T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738324T>C Locations: - p.Cys578Arg (Ensembl:ENST00000253247) - c.1732T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055223208 | 579 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738328C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738328C>T Locations: - p.Pro579Leu (Ensembl:ENST00000253247) - c.1736C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs867204903 | 579 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738327C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738327C>T Locations: - p.Pro579Ser (Ensembl:ENST00000253247) - c.1735C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1380141948 | 581 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.67738333G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738333G>A Locations: - p.Val581Ile (Ensembl:ENST00000253247) - c.1741G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs781650595 | 582 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000017.11:g.67738336C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738336C>G Locations: - p.Gln582Glu (Ensembl:ENST00000253247) - c.1744C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs781650595 | 582 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67738336C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738336C>A Locations: - p.Gln582Lys (Ensembl:ENST00000253247) - c.1744C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055223354 | 582 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000017.11:g.67738337A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738337A>C Locations: - p.Gln582Pro (Ensembl:ENST00000253247) - c.1745A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 584 | R>E | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000017.11:g.67738337del Consequence type: frameshift Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738337del Locations: - c.1750del (NCI-TCGA:ENST00000253247) - p.R584Efs*22 (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1456459887 | 584 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738342A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738342A>G Locations: - p.Arg584Gly (Ensembl:ENST00000253247) - c.1750A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs758410982 | 584 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67738343G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738343G>A Locations: - p.Arg584Lys (Ensembl:ENST00000253247) - c.1751G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs752965842 | 585 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738346C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738346C>G Locations: - p.Ala585Gly (Ensembl:ENST00000253247) - c.1754C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1194637995 | 586 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67738348G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738348G>T Locations: - p.Ala586Ser (Ensembl:ENST00000253247) - c.1756G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs377086049 | 587 | L>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738351C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738351C>G Locations: - p.Leu587Val (Ensembl:ENST00000253247) - c.1759C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1316904344 | 588 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738355T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738355T>C Locations: - p.Leu588Pro (Ensembl:ENST00000253247) - c.1763T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs111806972 | 590 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.178) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67738937C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738937C>T Locations: - p.Ala590Val (Ensembl:ENST00000253247) - c.1769C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs978297932 | 592 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738942C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738942C>T Locations: - p.Leu592Phe (Ensembl:ENST00000253247) - c.1774C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1231542526 | 593 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.67738946A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738946A>T Locations: - p.His593Leu (Ensembl:ENST00000253247) - c.1778A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522770 rs760153881 | 593 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: tolerated (0.47) - PolyPhen: possibly damaging (0.632) - SIFT: tolerated (0.24) Somatic: No Population frequencies: - MAF: 0.0001159 (gnomAD) Accession: NC_000017.11:g.67738945C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738945C>T Locations: - p.H593Y (NCI-TCGA:ENST00000253247) - p.His593Tyr (Ensembl:ENST00000253247) - c.1777C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055229292 | 595 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67738951G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738951G>C Locations: - p.Ala595Pro (Ensembl:ENST00000253247) - c.1783G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1352014468 | 596 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738955A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738955A>G Locations: - p.Tyr596Cys (Ensembl:ENST00000253247) - c.1787A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1283943146 | 598 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.538) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738960G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738960G>A Locations: - p.Glu598Lys (Ensembl:ENST00000253247) - c.1792G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1283943146 | 598 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738960G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738960G>C Locations: - p.Glu598Gln (Ensembl:ENST00000253247) - c.1792G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055229476 | 599 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67738964C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738964C>T Locations: - p.Thr599Ile (Ensembl:ENST00000253247) - c.1796C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522510 COSV99474831 rs1488015779 | 601 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003988 (gnomAD) Accession: NC_000017.11:g.67738969C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738969C>T Locations: - p.L601F (NCI-TCGA:ENST00000253247) - p.Leu601Phe (Ensembl:ENST00000253247) - c.1801C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV53522510 COSV99474831 | 601 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.446) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738969C>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738969C>A Locations: - c.1801C>A (NCI-TCGA:ENST00000253247) - p.L601I (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055229611 | 602 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738973T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738973T>C Locations: - p.Leu602Pro (Ensembl:ENST00000253247) - c.1805T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055229681 | 603 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738975C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738975C>T Locations: - p.Pro603Ser (Ensembl:ENST00000253247) - c.1807C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1385534356 | 604 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738980T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738980T>G Locations: - p.His604Gln (Ensembl:ENST00000253247) - c.1812T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs756500735 | 605 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.832) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738983G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738983G>C Locations: - p.Leu605Phe (Ensembl:ENST00000253247) - c.1815G>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055229827 | 606 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738984A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738984A>G Locations: - p.Lys606Glu (Ensembl:ENST00000253247) - c.1816A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1197884659 | 606 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67738985A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738985A>G Locations: - p.Lys606Arg (Ensembl:ENST00000253247) - c.1817A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475270 | 607 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.67738987G>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738987G>C Locations: - c.1819G>C (NCI-TCGA:ENST00000253247) - p.D607H (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1364232028 | 608 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738990A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738990A>G Locations: - p.Ile608Val (Ensembl:ENST00000253247) - c.1822A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs369079761 | 610 | A>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67738997C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738997C>G Locations: - p.Ala610Gly (Ensembl:ENST00000253247) - c.1829C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs369079761 | 610 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67738997C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738997C>T Locations: - p.Ala610Val (Ensembl:ENST00000253247) - c.1829C>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055229968 | 611 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.67738999C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67738999C>G Locations: - p.Gln611Glu (Ensembl:ENST00000253247) - c.1831C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs78812107 | 614 | T>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.67739009C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739009C>T Locations: - p.Thr614Met (Ensembl:ENST00000253247) - c.1841C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs765383045 | 616 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67739520T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739520T>A Locations: - p.Phe616Tyr (Ensembl:ENST00000253247) - c.1847T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1376046704 | 617 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67739522C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739522C>G Locations: - p.Leu617Val (Ensembl:ENST00000253247) - c.1849C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53522937 | 618 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.67739527G>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739527G>C Locations: - c.1854G>C (NCI-TCGA:ENST00000253247) - p.K618N (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055235295 | 619 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67739529A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739529A>G Locations: - p.Tyr619Cys (Ensembl:ENST00000253247) - c.1856A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs750502902 | 620 | L>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67739532T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739532T>C Locations: - p.Leu620Ser (Ensembl:ENST00000253247) - c.1859T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1043773549 | 627 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.67739553G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739553G>T Locations: - p.Cys627Phe (Ensembl:ENST00000253247) - c.1880G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1196542804 | 627 | C>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67739552T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739552T>G Locations: - p.Cys627Gly (Ensembl:ENST00000253247) - c.1879T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1043773549 | 627 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67739553G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739553G>C Locations: - p.Cys627Ser (Ensembl:ENST00000253247) - c.1880G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1237408400 | 628 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67739555A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739555A>G Locations: - p.Ser628Gly (Ensembl:ENST00000253247) - c.1882A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1410968138 | 629 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67739560A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739560A>T Locations: - p.Glu629Asp (Ensembl:ENST00000253247) - c.1887A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs575494083 | 629 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.16) - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67739558G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739558G>A Locations: - p.E629K (NCI-TCGA:ENST00000253247) - p.Glu629Lys (Ensembl:ENST00000253247) - c.1885G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs756048119 | 632 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000017.11:g.67739567A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739567A>G Locations: - p.Thr632Ala (Ensembl:ENST00000253247) - c.1894A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs756048119 | 632 | T>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.7) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000017.11:g.67739567A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739567A>C Locations: - p.Thr632Pro (Ensembl:ENST00000253247) - c.1894A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs777235078 | 632 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000017.11:g.67739568C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739568C>G Locations: - p.Thr632Ser (Ensembl:ENST00000253247) - c.1895C>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055235939 | 633 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67739571T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739571T>C Locations: - p.Met633Thr (Ensembl:ENST00000253247) - c.1898T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1219799073 | 633 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000017.11:g.67739570A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739570A>G Locations: - p.Met633Val (Ensembl:ENST00000253247) - c.1897A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1567805782 | 634 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.67739573A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739573A>T Locations: - p.Thr634Ser (Ensembl:ENST00000253247) - c.1900A>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1400076437 | 635 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.67739576C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739576C>T Locations: - p.Leu635Phe (Ensembl:ENST00000253247) - c.1903C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475232 | 636 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000017.11:g.67739580C>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739580C>G Locations: - c.1907C>G (NCI-TCGA:ENST00000253247) - p.P636R (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs770722803 | 637 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67739582G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739582G>A Locations: - p.Gly637Arg (Ensembl:ENST00000253247) - c.1909G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV53525696 | 638 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000017.11:g.67739587A>G Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739587A>G Locations: - c.1914A>G (NCI-TCGA:ENST00000253247) - p.I638M (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs907387439 | 639 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.67739588C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739588C>T Locations: - p.His639Tyr (Ensembl:ENST00000253247) - c.1915C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1231929388 | 640 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.67739591C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739591C>A Locations: - p.Pro640Thr (Ensembl:ENST00000253247) - c.1918C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1340541150 | 643 | L>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67739601T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739601T>C Locations: - p.Leu643Ser (Ensembl:ENST00000253247) - c.1928T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs745518843 | 644 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67739605C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739605C>G Locations: - p.Asn644Lys (Ensembl:ENST00000253247) - c.1932C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055236406 | 645 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67739607A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67739607A>G Locations: - p.Gln645Arg (Ensembl:ENST00000253247) - c.1934A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV99475294 rs1220749760 | 646 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004321 (gnomAD) Accession: NC_000017.11:g.67743480T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743480T>G Locations: - p.I646S (NCI-TCGA:ENST00000253247) - p.Ile646Ser (Ensembl:ENST00000253247) - c.1937T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs753691480 | 649 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67743489G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743489G>A Locations: - p.Trp649Ter (Ensembl:ENST00000253247) - c.1946G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs369956349 | 650 | I>M | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000017.11:g.67743493A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743493A>G Locations: - p.Ile650Met (Ensembl:ENST00000253247) - c.1950A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs896670396 | 651 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67743495G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743495G>A Locations: - p.Cys651Tyr (Ensembl:ENST00000253247) - c.1952G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs745547054 | 652 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743498T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743498T>C Locations: - p.Leu652Pro (Ensembl:ENST00000253247) - c.1955T>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1432137072 | 653 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.67743500C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743500C>G Locations: - p.Leu653Val (Ensembl:ENST00000253247) - c.1957C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1188030497 | 655 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743508T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743508T>G Locations: - p.Asp655Glu (Ensembl:ENST00000253247) - c.1965T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs779449337 | 655 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743506G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743506G>A Locations: - p.Asp655Asn (Ensembl:ENST00000253247) - c.1963G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs138167117 | 656 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000981162 (1000Genomes) Accession: NC_000017.11:g.67743510C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743510C>T Locations: - p.Ala656Val (Ensembl:ENST00000253247) - c.1967C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1567807228 | 659 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743519C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743519C>A Locations: - p.Thr659Asn (Ensembl:ENST00000253247) - c.1976C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs145032192 | 659 | T>P | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743518A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743518A>C Locations: - p.Thr659Pro (Ensembl:ENST00000253247) - c.1975A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055274024 | 660 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743522T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743522T>C Locations: - p.Val660Ala (Ensembl:ENST00000253247) - c.1979T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs374296971 | 660 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743521G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743521G>A Locations: - p.Val660Ile (Ensembl:ENST00000253247) - c.1978G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055274090 | 661 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743525T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743525T>C Locations: - p.Val661Ala (Ensembl:ENST00000253247) - c.1982T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055274117 | 662 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743527G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743527G>A Locations: - p.Val662Ile (Ensembl:ENST00000253247) - c.1984G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055274117 | 662 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.67743527G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743527G>C Locations: - p.Val662Leu (Ensembl:ENST00000253247) - c.1984G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055274175 | 664 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000017.11:g.67743534T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743534T>C Locations: - p.Met664Thr (Ensembl:ENST00000253247) - c.1991T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055274213 | 665 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.24) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67743536C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743536C>T Locations: - p.Pro665Ser (Ensembl:ENST00000253247) - c.1993C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1362489311 | 667 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743542G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743542G>C Locations: - p.Ala667Pro (Ensembl:ENST00000253247) - c.1999G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2143151989 | 668 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743545A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743545A>G Locations: - p.Lys668Glu (Ensembl:ENST00000253247) - c.2002A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs770196074 | 669 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.67743550G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743550G>C Locations: - p.Arg669Ser (Ensembl:ENST00000253247) - c.2007G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs377685856 | 673 | N>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.67743560A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743560A>C Locations: - p.Asn673His (Ensembl:ENST00000253247) - c.2017A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055274413 | 675 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67743567dup Codon: TAC/TAAC Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743567dup Locations: - p.Tyr675Ter (Ensembl:ENST00000253247) - c.2024dup (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1366408005 | 675 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67743566T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743566T>C Locations: - p.Tyr675His (Ensembl:ENST00000253247) - c.2023T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1366408005 | 675 | Y>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.746) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67743566T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743566T>A Locations: - p.Tyr675Asn (Ensembl:ENST00000253247) - c.2023T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1344250446 | 676 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743569A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743569A>C Locations: - p.Lys676Gln (Ensembl:ENST00000253247) - c.2026A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1272310086 | 680 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743582C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743582C>T Locations: - p.Ser680Phe (Ensembl:ENST00000253247) - c.2039C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs192947561 | 682 | I>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67743743A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743743A>G Locations: - p.Ile682Val (Ensembl:ENST00000253247) - c.2044A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs565913198 | 683 | S>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000017.11:g.67743746T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743746T>C Locations: - p.Ser683Pro (Ensembl:ENST00000253247) - c.2047T>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
TCGA novel | 683 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67743747C>A Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743747C>A Locations: - c.2048C>A (NCI-TCGA:ENST00000253247) - p.S683Y (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1241937824 | 686 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743756C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743756C>G Locations: - p.Ser686Cys (Ensembl:ENST00000253247) - c.2057C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1266668794 | 686 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743755T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743755T>A Locations: - p.Ser686Thr (Ensembl:ENST00000253247) - c.2056T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs201377381 | 687 | E>G | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743759A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743759A>G Locations: - p.Glu687Gly (Ensembl:ENST00000253247) - c.2060A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055276305 | 687 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.67743758G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743758G>C Locations: - p.Glu687Gln (Ensembl:ENST00000253247) - c.2059G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1315099697 | 688 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743761C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743761C>G Locations: - p.Leu688Val (Ensembl:ENST00000253247) - c.2062C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs754543968 | 689 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67743766C>G, NC_000017.11:g.67743766C>A Codon: AAC/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743766C>G, NC_000017.11:g.67743766C>A Locations: - p.Asn689Lys (Ensembl:ENST00000253247) - c.2067C>G (Ensembl:ENST00000253247) - c.2067C>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055276490 | 690 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743767A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743767A>G Locations: - p.Lys690Glu (Ensembl:ENST00000253247) - c.2068A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1288744246 | 691 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67743772T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743772T>G Locations: - p.Ile691Met (Ensembl:ENST00000253247) - c.2073T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1040324909 | 692 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743774A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743774A>G Locations: - p.Glu692Gly (Ensembl:ENST00000253247) - c.2075A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1567807354 | 693 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67743777T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743777T>G Locations: - p.Val693Gly (Ensembl:ENST00000253247) - c.2078T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs780661064 | 693 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.67743776G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743776G>A Locations: - p.Val693Ile (Ensembl:ENST00000253247) - c.2077G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055276652 | 695 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743782T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743782T>G Locations: - p.Phe695Val (Ensembl:ENST00000253247) - c.2083T>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs770251051 | 696 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.67743786G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743786G>A Locations: - p.Arg696Gln (Ensembl:ENST00000253247) - c.2087G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
COSV99475199 rs748697836 | 696 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.732) - SIFT: deleterious (0.03) - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000004948 (gnomAD) Accession: NC_000017.11:g.67743785C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743785C>T Locations: - p.R696W (NCI-TCGA:ENST00000253247) - p.Arg696Trp (Ensembl:ENST00000253247) - c.2086C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs370393293 | 697 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.454) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00000489 (gnomAD) Accession: NC_000017.11:g.67743788G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743788G>A Locations: - p.E697K (NCI-TCGA:ENST00000253247) - p.Glu697Lys (Ensembl:ENST00000253247) - c.2089G>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs138866532 | 699 | Q>* | ESP gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.67743794C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743794C>T Locations: - p.Gln699Ter (Ensembl:ENST00000253247) - c.2095C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs138866532 | 699 | Q>E | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.379) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.67743794C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743794C>G Locations: - p.Gln699Glu (Ensembl:ENST00000253247) - c.2095C>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs775892220 | 699 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.67743795A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743795A>G Locations: - p.Gln699Arg (Ensembl:ENST00000253247) - c.2096A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs774703203 | 700 | K>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.67743797A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743797A>C Locations: - p.Lys700Gln (Ensembl:ENST00000253247) - c.2098A>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1261406863 | 702 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743803A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743803A>G Locations: - p.Asn702Asp (Ensembl:ENST00000253247) - c.2104A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs767744271 | 702 | N>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743804A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743804A>T Locations: - p.Asn702Ile (Ensembl:ENST00000253247) - c.2105A>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs2055277056 | 702 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000017.11:g.67743805T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743805T>A Locations: - p.Asn702Lys (Ensembl:ENST00000253247) - c.2106T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs767744271 | 702 | N>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67743804A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743804A>C Locations: - p.Asn702Thr (Ensembl:ENST00000253247) - c.2105A>C (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs201123173 | 704 | E>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.66) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000017.11:g.67743809G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743809G>C Locations: - p.Glu704Gln (Ensembl:ENST00000253247) - c.2110G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs375576112 | 705 | K>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.67743812A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743812A>G Locations: - p.Lys705Glu (Ensembl:ENST00000253247) - c.2113A>G (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs750624263 | 705 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743814G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743814G>T Locations: - p.Lys705Asn (Ensembl:ENST00000253247) - c.2115G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs1257455439 | 706 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.67743816A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743816A>G Locations: - p.Asn706Ser (Ensembl:ENST00000253247) - c.2117A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs765159351 | 707 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000017.11:g.67743819A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743819A>G Locations: - p.Asn707Ser (Ensembl:ENST00000253247) - c.2120A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
COSV53525146 | 708 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.81) Somatic: Yes Accession: NC_000017.11:g.67743822G>C Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743822G>C Locations: - c.2123G>C (NCI-TCGA:ENST00000253247) - p.R708T (NCI-TCGA:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs750185926 | 709 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743825G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743825G>T Locations: - p.Gly709Val (Ensembl:ENST00000253247) - c.2126G>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs758276703 | 712 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743834C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743834C>T Locations: - p.Ser712Leu (Ensembl:ENST00000253247) - c.2135C>T (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs142111850 | 713 | I>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000017.11:g.67743836A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743836A>G Locations: - p.Ile713Val (Ensembl:ENST00000253247) - c.2137A>G (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs368470408 | 714 | E>K | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743839G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743839G>A Locations: - p.Glu714Lys (Ensembl:ENST00000253247) - c.2140G>A (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs1198526484 | 716 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.67743845C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743845C>A Locations: - p.Leu716Met (Ensembl:ENST00000253247) - c.2146C>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs2055277560 | 716 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743846T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743846T>A Locations: - p.Leu716Gln (Ensembl:ENST00000253247) - c.2147T>A (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs747612462 | 717 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.67743850G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743850G>T Locations: - p.Glu717Asp (Ensembl:ENST00000253247) - c.2151G>T (Ensembl:ENST00000253247) Source type: large scale study | |||||||
rs780715925 | 717 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.67743848G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743848G>C Locations: - p.Glu717Gln (Ensembl:ENST00000253247) - c.2149G>C (Ensembl:ENST00000253247) Source type: large scale study Cross-references: | |||||||
rs778277611 | 720 | *>C | ExAC TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000017.11:g.67743859A>C Codon: TGA/TGC Consequence type: stop lost Cytogenetic band: 17q24.2 Genomic location: NC_000017.11:g.67743859A>C Locations: - p.Ter720CysextTer11 (Ensembl:ENST00000253247) - c.2160A>C (Ensembl:ENST00000253247) Source type: large scale study |