E9PKT7 · E9PKT7_HUMAN
- ProteinSchlafen family member 13
- GeneSLFN13
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids130 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1597807368 | 2 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35444683A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444683A>C Locations: - p.Val2Gly (Ensembl:ENST00000532210) - c.5T>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs199966694 | 2 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.35444684C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444684C>T Locations: - p.Val2Met (Ensembl:ENST00000532210) - c.4G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs775741991 | 4 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.35444678C>A Codon: GAG/TAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444678C>A Locations: - p.Glu4Ter (Ensembl:ENST00000532210) - c.10G>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs775741991 | 4 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.35444678C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444678C>T Locations: - p.Glu4Lys (Ensembl:ENST00000532210) - c.10G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs980149869 | 4 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35444677T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444677T>A Locations: - p.Glu4Val (Ensembl:ENST00000532210) - c.11A>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs769934628 | 5 | K>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000017.11:g.35444674T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444674T>C Locations: - p.Lys5Arg (Ensembl:ENST00000532210) - c.14A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs769934628 | 5 | K>T | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.35444674T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444674T>G Locations: - p.Lys5Thr (Ensembl:ENST00000532210) - c.14A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53192435 rs138677586 | 8 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000017.11:g.35444666G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444666G>A Locations: - p.R8C (NCI-TCGA:ENST00000532210) - p.Arg8Cys (Ensembl:ENST00000532210) - c.22C>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
COSV53193505 rs148604980 | 8 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.281) - SIFT: tolerated (0.39) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000017.11:g.35444665C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444665C>T Locations: - p.R8H (NCI-TCGA:ENST00000532210) - p.Arg8His (Ensembl:ENST00000532210) - c.23G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs116655050 | 9 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.35444662G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444662G>A Locations: - p.Pro9Leu (Ensembl:ENST00000532210) - c.26C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs369414270 | 10 | L>V | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35444660A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444660A>C Locations: - p.Leu10Val (Ensembl:ENST00000532210) - c.28T>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1913095536 | 11 | T>I | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35444656G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444656G>A Locations: - p.Thr11Ile (Ensembl:ENST00000532210) - c.32C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1322518026 | 11 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.35444657T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444657T>A Locations: - p.Thr11Ser (Ensembl:ENST00000532210) - c.31A>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1913095122 | 12 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000017.11:g.35444654T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444654T>C Locations: - p.Thr12Ala (Ensembl:ENST00000532210) - c.34A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1324001913 | 12 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35444653G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444653G>T Locations: - p.Thr12Asn (Ensembl:ENST00000532210) - c.35C>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs758718051 | 13 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.35444649C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444649C>A Locations: - p.Glu13Asp (Ensembl:ENST00000532210) - c.39G>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1913094473 | 13 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35444651C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444651C>T Locations: - p.Glu13Lys (Ensembl:ENST00000532210) - c.37G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs753022696 | 14 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.16) Somatic: No Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000017.11:g.35444648C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444648C>T Locations: - p.E14K (NCI-TCGA:ENST00000532210) - p.Glu14Lys (Ensembl:ENST00000532210) - c.40G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1913093521 | 15 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.35444644C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444644C>T Locations: - p.Trp15Ter (Ensembl:ENST00000532210) - c.44G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1408069791 | 15 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35444645A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444645A>G Locations: - p.Trp15Arg (Ensembl:ENST00000532210) - c.43T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1019799078 | 19 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.35444631C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444631C>T Locations: - p.Met19Ile (Ensembl:ENST00000532210) - c.57G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs754589690 | 19 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.35444633T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444633T>A Locations: - p.Met19Leu (Ensembl:ENST00000532210) - c.55A>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs766046749 | 21 | D>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.35444626T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444626T>C Locations: - p.Asp21Gly (Ensembl:ENST00000532210) - c.62A>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs753383138 | 21 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.35444627C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444627C>T Locations: - p.Asp21Asn (Ensembl:ENST00000532210) - c.61G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs541429130 | 22 | A>P | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.35444624C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444624C>G Locations: - p.Ala22Pro (Ensembl:ENST00000532210) - c.64G>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs541429130 | 22 | A>S | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.35444624C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444624C>A Locations: - p.Ala22Ser (Ensembl:ENST00000532210) - c.64G>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53196334 rs541429130 | 22 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000017.11:g.35444624C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444624C>T Locations: - p.A22T (NCI-TCGA:ENST00000532210) - p.Ala22Thr (Ensembl:ENST00000532210) - c.64G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs576290515 | 24 | P>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.35444617G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35444617G>A Locations: - p.Pro24Leu (Ensembl:ENST00000532210) - c.71C>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs751367816 | 26 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35443918A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443918A>G Locations: - p.Phe26Leu (Ensembl:ENST00000532210) - c.76T>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs763856127 | 27 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000017.11:g.35443914G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443914G>C Locations: - p.Pro27Arg (Ensembl:ENST00000532210) - c.80C>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53192216 rs1165895053 | 27 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000017.11:g.35443915G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443915G>A Locations: - p.P27S (NCI-TCGA:ENST00000532210) - p.Pro27Ser (Ensembl:ENST00000532210) - c.79C>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs560433940 | 28 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.35443911G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443911G>A Locations: - p.Pro28Leu (Ensembl:ENST00000532210) - c.83C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs540829149 | 31 | A>P | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000017.11:g.35443903C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443903C>G Locations: - p.Ala31Pro (Ensembl:ENST00000532210) - c.91G>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs540829149 | 31 | A>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000017.11:g.35443903C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443903C>A Locations: - p.Ala31Ser (Ensembl:ENST00000532210) - c.91G>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs540829149 | 31 | A>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.35443903C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443903C>T Locations: - p.Ala31Thr (Ensembl:ENST00000532210) - c.91G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1913054553 | 31 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000017.11:g.35443902G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443902G>A Locations: - p.Ala31Val (Ensembl:ENST00000532210) - c.92C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs779315105 | 33 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000017.11:g.35443896G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443896G>C Locations: - p.Ala33Gly (Ensembl:ENST00000532210) - c.98C>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs772561897 | 33 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.35443897C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443897C>G Locations: - p.Ala33Pro (Ensembl:ENST00000532210) - c.97G>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs772561897 | 33 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000017.11:g.35443897C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443897C>T Locations: - p.Ala33Thr (Ensembl:ENST00000532210) - c.97G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs779315105 | 33 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000017.11:g.35443896G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443896G>A Locations: - p.Ala33Val (Ensembl:ENST00000532210) - c.98C>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1913053919 | 34 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.35443894A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443894A>G Locations: - p.Phe34Leu (Ensembl:ENST00000532210) - c.100T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs139096252 | 35 | E>D | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.35443889C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443889C>G Locations: - p.Glu35Asp (Ensembl:ENST00000532210) - c.105G>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1180502774 | 36 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.35443888A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443888A>G Locations: - p.Ser36Pro (Ensembl:ENST00000532210) - c.106T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1913053301 | 37 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.35443884T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443884T>C Locations: - p.Gln37Arg (Ensembl:ENST00000532210) - c.110A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs749695121 | 39 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.35443878C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443878C>T Locations: - p.Ser39Asn (Ensembl:ENST00000532210) - c.116G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs749695121 | 39 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.35443878C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443878C>G Locations: - p.Ser39Thr (Ensembl:ENST00000532210) - c.116G>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs779804536 | 40 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35443875A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443875A>G Locations: - p.Leu40Pro (Ensembl:ENST00000532210) - c.119T>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs954088973 | 43 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.35443867T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443867T>A Locations: - p.Ser43Cys (Ensembl:ENST00000532210) - c.127A>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53193393 rs370603090 | 43 | S>N | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000017.11:g.35443866C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443866C>T Locations: - p.Ser43Asn (Ensembl:ENST00000532210) - c.128G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs370603090 | 43 | S>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000017.11:g.35443866C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443866C>G Locations: - p.Ser43Thr (Ensembl:ENST00000532210) - c.128G>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1248877681 | 47 | C>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.35443853G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443853G>T Locations: - p.Cys47Ter (Ensembl:ENST00000532210) - c.141C>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1913051215 | 47 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.35443854C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443854C>T Locations: - p.Cys47Tyr (Ensembl:ENST00000532210) - c.140G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs780918901 | 49 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.35443848G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443848G>A Locations: - p.Pro49Leu (Ensembl:ENST00000532210) - c.146C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs757208937 | 50 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35443845A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443845A>C Locations: - p.Val50Gly (Ensembl:ENST00000532210) - c.149T>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53194761 rs2142086340 | 51 | Y>H | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.35443843A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443843A>G Locations: - p.Tyr51His (Ensembl:ENST00000532210) - c.151T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1233837832 | 52 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.676) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.35443839G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443839G>C Locations: - p.Ser52Cys (Ensembl:ENST00000532210) - c.155C>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1233837832 | 52 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.608) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35443839G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443839G>T Locations: - p.Ser52Tyr (Ensembl:ENST00000532210) - c.155C>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs751488805 | 53 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.35443836T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443836T>G Locations: - p.Lys53Thr (Ensembl:ENST00000532210) - c.158A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1227385579 | 56 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35443827A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443827A>G Locations: - p.Leu56Pro (Ensembl:ENST00000532210) - c.167T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV106388040 rs1913049322 | 57 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000017.11:g.35443825C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443825C>T Locations: - p.Glu57Lys (Ensembl:ENST00000532210) - c.169G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53194339 rs184067869 | 58 | H>L | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.64) Somatic: Yes Accession: NC_000017.11:g.35443821T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443821T>A Locations: - p.His58Leu (Ensembl:ENST00000532210) - c.173A>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
COSV53195166 rs1365473984 | 58 | H>N | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.47) Somatic: Yes Accession: NC_000017.11:g.35443822G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443822G>T Locations: - p.His58Asn (Ensembl:ENST00000532210) - c.172C>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs184067869 | 58 | H>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.35443821T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443821T>G Locations: - p.His58Pro (Ensembl:ENST00000532210) - c.173A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs762602166 | 58 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.35443820G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443820G>C Locations: - p.His58Gln (Ensembl:ENST00000532210) - c.174C>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1400823311 | 59 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000017.11:g.35443819T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443819T>C Locations: - p.Lys59Glu (Ensembl:ENST00000532210) - c.175A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53192687 rs752498648 | 60 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.22) Somatic: Yes Population frequencies: - MAF: 0.00000796 (gnomAD) Accession: NC_000017.11:g.35443816C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443816C>T Locations: - p.A60T (NCI-TCGA:ENST00000532210) - p.Ala60Thr (Ensembl:ENST00000532210) - c.178G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1913047890 | 61 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000017.11:g.35443811A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443811A>T Locations: - p.Asp61Glu (Ensembl:ENST00000532210) - c.183T>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1467047985 | 61 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.35443813C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443813C>G Locations: - p.Asp61His (Ensembl:ENST00000532210) - c.181G>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs370268189 | 64 | Q>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000017.11:g.35443804G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443804G>C Locations: - p.Gln64Glu (Ensembl:ENST00000532210) - c.190C>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs772091517 | 65 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.35443800T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443800T>G Locations: - p.His65Pro (Ensembl:ENST00000532210) - c.194A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs772091517 | 65 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000017.11:g.35443800T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443800T>C Locations: - p.His65Arg (Ensembl:ENST00000532210) - c.194A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs773265954 | 65 | H>Y | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35443801G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443801G>A Locations: - p.His65Tyr (Ensembl:ENST00000532210) - c.193C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1422170895 | 66 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35443797A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443797A>G Locations: - p.Leu66Ser (Ensembl:ENST00000532210) - c.197T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs555146779 | 67 | F>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.35443795A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443795A>G Locations: - p.Phe67Leu (Ensembl:ENST00000532210) - c.199T>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1913046346 | 68 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35443791G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35443791G>A Locations: - p.Pro68Leu (Ensembl:ENST00000532210) - c.203C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs902182556 | 69 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.35442286A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442286A>G Locations: - p.Val69Ala (Ensembl:ENST00000532210) - c.206T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV106388027 rs1234609781 | 70 | P>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.76) Somatic: Yes Accession: NC_000017.11:g.35442283G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442283G>A Locations: - p.Pro70Leu (Ensembl:ENST00000532210) - c.209C>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1234609781 | 70 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000017.11:g.35442283G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442283G>C Locations: - p.Pro70Arg (Ensembl:ENST00000532210) - c.209C>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1265596725 | 70 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.35442284G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442284G>T Locations: - p.Pro70Thr (Ensembl:ENST00000532210) - c.208C>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs765074422 | 71 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.35442280G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442280G>A Locations: - p.Pro71Leu (Ensembl:ENST00000532210) - c.212C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1255525134 | 72 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.35442278C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442278C>T Locations: - p.Gly72Arg (Ensembl:ENST00000532210) - c.214G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs373550794 | 73 | H>R | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000017.11:g.35442274T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442274T>C Locations: - p.His73Arg (Ensembl:ENST00000532210) - c.218A>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1336851193 | 75 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000017.11:g.35442268T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442268T>G Locations: - p.Glu75Ala (Ensembl:ENST00000532210) - c.224A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1385384209 | 76 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.35442266A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442266A>G Locations: - p.Cys76Arg (Ensembl:ENST00000532210) - c.226T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1390301691 | 76 | C>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.35442264A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442264A>C Locations: - p.Cys76Trp (Ensembl:ENST00000532210) - c.228T>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53192471 rs767814242 rs767814242,COSV53192471 | 79 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000008318 (gnomAD) Accession: NC_000017.11:g.35442257C>A Codon: GAG/TAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442257C>A Locations: - p.E79* (NCI-TCGA:ENST00000532210) - p.Glu79Ter (Ensembl:ENST00000532210) - c.235G>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs767814242 | 79 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.35442257C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442257C>G Locations: - p.Glu79Gln (Ensembl:ENST00000532210) - c.235G>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV99540601 rs375986024 | 81 | L>F | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.35442251G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442251G>A Locations: - p.Leu81Phe (Ensembl:ENST00000532210) - c.241C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1257588447 | 82 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.35442246C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442246C>G Locations: - p.Trp82Cys (Ensembl:ENST00000532210) - c.246G>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1433424430 | 82 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.35442248A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442248A>G Locations: - p.Trp82Arg (Ensembl:ENST00000532210) - c.244T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1482152616 | 83 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.35442245T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442245T>C Locations: - p.Lys83Glu (Ensembl:ENST00000532210) - c.247A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53192152 rs1912955008 | 84 | E>* | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.35442242C>A Codon: GAG/TAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442242C>A Locations: - p.Glu84Ter (Ensembl:ENST00000532210) - c.250G>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs879206716 | 86 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35442235G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442235G>A Locations: - p.Ser86Phe (Ensembl:ENST00000532210) - c.257C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1912954382 | 88 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.35442229T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442229T>C Locations: - p.Gln88Arg (Ensembl:ENST00000532210) - c.263A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1912953987 | 89 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442225A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442225A>T Locations: - p.His89Gln (Ensembl:ENST00000532210) - c.267T>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1196490808 | 90 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.35442223T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442223T>G Locations: - p.Glu90Ala (Ensembl:ENST00000532210) - c.269A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1196490808 | 90 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.35442223T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442223T>C Locations: - p.Glu90Gly (Ensembl:ENST00000532210) - c.269A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs558489561 | 91 | G>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.35442220C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442220C>T Locations: - p.Gly91Glu (Ensembl:ENST00000532210) - c.272G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs115323809 | 91 | G>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.35442221C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442221C>T Locations: - p.Gly91Arg (Ensembl:ENST00000532210) - c.271G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53195593 rs1215138700 | 92 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000017.11:g.35442218G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442218G>C Locations: - p.L92V (NCI-TCGA:ENST00000532210) - p.Leu92Val (Ensembl:ENST00000532210) - c.274C>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1326609681 | 93 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35442215T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442215T>C Locations: - p.Lys93Glu (Ensembl:ENST00000532210) - c.277A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1266996118 | 93 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.35442213C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442213C>A Locations: - p.Lys93Asn (Ensembl:ENST00000532210) - c.279G>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs746262608 | 96 | I>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442205A>T Codon: ATA/AAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442205A>T Locations: - p.Ile96Lys (Ensembl:ENST00000532210) - c.287T>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1281721562 | 97 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35442203G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442203G>T Locations: - p.His97Asn (Ensembl:ENST00000532210) - c.289C>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs776096125 | 97 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.35442202T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442202T>C Locations: - p.His97Arg (Ensembl:ENST00000532210) - c.290A>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1281721562 | 97 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.35442203G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442203G>A Locations: - p.His97Tyr (Ensembl:ENST00000532210) - c.289C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1597804391 | 99 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442196T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442196T>G Locations: - p.Gln99Pro (Ensembl:ENST00000532210) - c.296A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs77814846 | 100 | M>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.35442192C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442192C>T Locations: - p.Met100Ile (Ensembl:ENST00000532210) - c.300G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV99539675 rs146021127 | 101 | R>* | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.35442191G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442191G>A Locations: - p.Arg101Ter (Ensembl:ENST00000532210) - c.301C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1320053156 | 101 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.35442190C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442190C>T Locations: - p.Arg101Gln (Ensembl:ENST00000532210) - c.302G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs16970912 | 102 | P>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.35442187G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442187G>T Locations: - p.Pro102His (Ensembl:ENST00000532210) - c.305C>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs16970912 | 102 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.35442187G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442187G>C Locations: - p.Pro102Arg (Ensembl:ENST00000532210) - c.305C>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs748131442 | 103 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.35442183G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442183G>T Locations: - p.Phe103Leu (Ensembl:ENST00000532210) - c.309C>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1912948944 | 103 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.35442184A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442184A>G Locations: - p.Phe103Ser (Ensembl:ENST00000532210) - c.308T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1477594603 | 104 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.35442182A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442182A>C Locations: - p.Ser104Ala (Ensembl:ENST00000532210) - c.310T>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs778646600 | 104 | S>F | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.35442181G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442181G>A Locations: - p.Ser104Phe (Ensembl:ENST00000532210) - c.311C>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1477594603 | 104 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.35442182A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442182A>T Locations: - p.Ser104Thr (Ensembl:ENST00000532210) - c.310T>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1912947700 | 105 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.377) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.35442177C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442177C>A Locations: - p.Gln105His (Ensembl:ENST00000532210) - c.315G>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs754730006 | 105 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000017.11:g.35442178T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442178T>C Locations: - p.Gln105Arg (Ensembl:ENST00000532210) - c.314A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs376556118 | 107 | I>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.35442172A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442172A>G Locations: - p.Ile107Thr (Ensembl:ENST00000532210) - c.320T>C (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs757507429 | 108 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35442170C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442170C>A Locations: - p.Val108Leu (Ensembl:ENST00000532210) - c.322G>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs757507429 | 108 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442170C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442170C>T Locations: - p.Val108Met (Ensembl:ENST00000532210) - c.322G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1448169092 | 109 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442167T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442167T>A Locations: - p.Ile109Phe (Ensembl:ENST00000532210) - c.325A>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs148288145 | 109 | I>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442166A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442166A>T Locations: - p.Ile109Asn (Ensembl:ENST00000532210) - c.326T>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1448169092 | 109 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.35442167T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442167T>C Locations: - p.Ile109Val (Ensembl:ENST00000532210) - c.325A>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs552965029 | 110 | L>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.35442164G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442164G>A Locations: - p.Leu110Phe (Ensembl:ENST00000532210) - c.328C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs552965029 | 110 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.35442164G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442164G>C Locations: - p.Leu110Val (Ensembl:ENST00000532210) - c.328C>G (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs191162945 | 111 | S>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442160G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442160G>C Locations: - p.Ser111Cys (Ensembl:ENST00000532210) - c.332C>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs191162945 | 111 | S>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442160G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442160G>A Locations: - p.Ser111Phe (Ensembl:ENST00000532210) - c.332C>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs3098957 | 113 | S>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442153G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442153G>T Locations: - p.Ser113Arg (Ensembl:ENST00000532210) - c.339C>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs765858176 | 114 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.35442151C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442151C>T Locations: - p.Trp114Ter (Ensembl:ENST00000532210) - c.341G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs2142081345 | 116 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442145A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442145A>T Locations: - p.Val116Glu (Ensembl:ENST00000532210) - c.347T>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV53192445 rs759918653 | 117 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000007954 (gnomAD) Accession: NC_000017.11:g.35442143C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442143C>A Locations: - p.D117Y (NCI-TCGA:ENST00000532210) - p.Asp117Tyr (Ensembl:ENST00000532210) - c.349G>T (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs777055400 | 118 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442139A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442139A>G Locations: - p.Leu118Pro (Ensembl:ENST00000532210) - c.353T>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs770482674 | 119 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.35442135G>T, NC_000017.11:g.35442135G>C Codon: AAC/AAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442135G>T, NC_000017.11:g.35442135G>C Locations: - p.Asn119Lys (Ensembl:ENST00000532210) - c.357C>A (Ensembl:ENST00000532210) - c.357C>G (Ensembl:ENST00000532210) Source type: large scale study | |||||||
rs1567862123 | 119 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.35442136T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442136T>G Locations: - p.Asn119Thr (Ensembl:ENST00000532210) - c.356A>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1912943317 | 120 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442132C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442132C>A Locations: - p.Leu120Phe (Ensembl:ENST00000532210) - c.360G>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1413891568 | 124 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442121G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442121G>A Locations: - p.Pro124Leu (Ensembl:ENST00000532210) - c.371C>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
COSV99540300 rs12939048 | 125 | G>E | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000017.11:g.35442118C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442118C>T Locations: - p.Gly125Glu (Ensembl:ENST00000532210) - c.374G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs772572726 | 125 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.35442119C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442119C>T Locations: - p.Gly125Arg (Ensembl:ENST00000532210) - c.373G>A (Ensembl:ENST00000532210) Source type: large scale study | |||||||
COSV53194508 rs1912941363 | 128 | C>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.35442109C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442109C>G Locations: - p.Cys128Ser (Ensembl:ENST00000532210) - c.383G>C (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1293093851 | 129 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442107C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442107C>T Locations: - p.Asp129Asn (Ensembl:ENST00000532210) - c.385G>A (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
rs1293093851 | 129 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.35442107C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442107C>A Locations: - p.Asp129Tyr (Ensembl:ENST00000532210) - c.385G>T (Ensembl:ENST00000532210) Source type: large scale study Cross-references: | |||||||
VAR_053878 rs16970912 | 433 | P>L | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.35442187G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q12 Genomic location: NC_000017.11:g.35442187G>A Locations: - p.Pro433Leu (UniProt:Q68D06) - p.Pro102Leu (Ensembl:ENST00000532210) - c.305C>T (Ensembl:ENST00000532210) Source type: mixed Cross-references: |