P0DI83 · NARR_HUMAN
- ProteinRas-related protein Rab-34, isoform NARR
- GeneRAB34
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids198 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs919048132 | 3 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717701C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717701C>G Locations: - p.Gly3Ala (Ensembl:ENST00000636154) - c.8G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs972890288 | 5 | P>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000017.11:g.28717696G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717696G>A Locations: - p.Pro5Ser (Ensembl:ENST00000636154) - c.13C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs2033772954 | 6 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.28717693G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717693G>A Locations: - p.Gln6Ter (Ensembl:ENST00000636154) - c.16C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs182078019 | 6 | Q>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.28717691C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717691C>A Locations: - p.Gln6His (Ensembl:ENST00000636154) - c.18G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033772954 | 6 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000017.11:g.28717693G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717693G>T Locations: - p.Gln6Lys (Ensembl:ENST00000636154) - c.16C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1047132681 | 7 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000017.11:g.28717690G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717690G>A Locations: - p.Pro7Ser (Ensembl:ENST00000636154) - c.19C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394794 | 8 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717687G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717687G>A Locations: - p.Arg8Ter (cosmic curated:ENST00000636154) - c.22C>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs930995345 | 10 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.28717681C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717681C>G Locations: - p.Asp10His (Ensembl:ENST00000636154) - c.28G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs930995345 | 10 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.28717681C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717681C>T Locations: - p.Asp10Asn (Ensembl:ENST00000636154) - c.28G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs919624394 | 14 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.28717669G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717669G>A Locations: - p.Pro14Ser (Ensembl:ENST00000636154) - c.40C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1347342591 | 15 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000017.11:g.28717665C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717665C>T Locations: - p.Arg15Gln (Ensembl:ENST00000636154) - c.44G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033769020 | 17 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.28717660G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717660G>C Locations: - p.Arg17Gly (Ensembl:ENST00000636154) - c.49C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1388235661 | 17 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.28717659C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717659C>T Locations: - p.Arg17Gln (Ensembl:ENST00000636154) - c.50G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1476948616 | 18 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.28717657C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717657C>A Locations: - p.Val18Phe (Ensembl:ENST00000636154) - c.52G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1597784394 | 18 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.28717656A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717656A>C Locations: - p.Val18Gly (Ensembl:ENST00000636154) - c.53T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1476948616 | 18 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.28717657C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717657C>T Locations: - p.Val18Ile (Ensembl:ENST00000636154) - c.52G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1421872229 | 19 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.28717652A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717652A>C Locations: - p.Ile19Met (Ensembl:ENST00000636154) - c.57T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs910094935 | 19 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717653A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717653A>C Locations: - p.Ile19Ser (Ensembl:ENST00000636154) - c.56T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs910094935 | 19 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717653A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717653A>G Locations: - p.Ile19Thr (Ensembl:ENST00000636154) - c.56T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs959372314 | 21 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717648C>G Codon: GGA/CGA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717648C>G Locations: - p.Gly21Arg (Ensembl:ENST00000636154) - c.61G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56392624 rs1196779483 | 24 | R>W | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000017.11:g.28717639G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717639G>A Locations: - p.Arg24Trp (Ensembl:ENST00000636154) - c.70C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394157 | 25 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717636G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717636G>T Locations: - p.Pro25Thr (cosmic curated:ENST00000636154) - c.73C>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs541927369 | 26 | R>C | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.28717633G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717633G>A Locations: - p.Arg26Cys (Ensembl:ENST00000636154) - c.76C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs541927369 | 26 | R>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000017.11:g.28717633G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717633G>C Locations: - p.Arg26Gly (Ensembl:ENST00000636154) - c.76C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs541927369 | 26 | R>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.28717633G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717633G>T Locations: - p.Arg26Ser (Ensembl:ENST00000636154) - c.76C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1258228148 | 27 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.28717629A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717629A>G Locations: - p.Val27Ala (Ensembl:ENST00000636154) - c.80T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033758319 | 28 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717626A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717626A>C Locations: - p.Ile28Ser (Ensembl:ENST00000636154) - c.83T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1185625895 | 29 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717623A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717623A>G Locations: - p.Val29Ala (Ensembl:ENST00000636154) - c.86T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394972 rs527745575 | 29 | V>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000017.11:g.28717624C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717624C>T Locations: - p.Val29Ile (Ensembl:ENST00000636154) - c.85G>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1375032522 | 30 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717620C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717620C>G Locations: - p.Gly30Ala (Ensembl:ENST00000636154) - c.89G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1469463414 | 31 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000017.11:g.28717617G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717617G>T Locations: - p.Thr31Asn (Ensembl:ENST00000636154) - c.92C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1021027545 | 33 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717612G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717612G>A Locations: - p.Arg33Trp (Ensembl:ENST00000636154) - c.97C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033751863 | 34 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717608G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717608G>A Locations: - p.Pro34Leu (Ensembl:ENST00000636154) - c.101C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs754541468 | 34 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000017.11:g.28717609G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717609G>A Locations: - p.Pro34Ser (Ensembl:ENST00000636154) - c.100C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs574314550 | 35 | R>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000017.11:g.28717606G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717606G>A Locations: - p.Arg35Cys (Ensembl:ENST00000636154) - c.103C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs574314550 | 35 | R>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717606G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717606G>C Locations: - p.Arg35Gly (Ensembl:ENST00000636154) - c.103C>G (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1418359988 | 36 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.28717603C>G Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717603C>G Locations: - p.Val36Leu (Ensembl:ENST00000636154) - c.106G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs556204424 | 37 | I>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.28717599A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717599A>G Locations: - p.Ile37Thr (Ensembl:ENST00000636154) - c.110T>C (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1228592751 | 38 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.28717597C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717597C>A Locations: - p.Val38Leu (Ensembl:ENST00000636154) - c.112G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1297409362 | 39 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717593C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717593C>T Locations: - p.Gly39Glu (Ensembl:ENST00000636154) - c.116G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1359579403 | 42 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.28717584C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717584C>T Locations: - p.Arg42Gln (Ensembl:ENST00000636154) - c.125G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs753229544 | 42 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717585G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717585G>A Locations: - p.Arg42Trp (Ensembl:ENST00000636154) - c.124C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1313862894 | 43 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717581G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717581G>T Locations: - p.Ala43Asp (Ensembl:ENST00000636154) - c.128C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1313862894 | 43 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.28717581G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717581G>A Locations: - p.Ala43Val (Ensembl:ENST00000636154) - c.128C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs923884271 | 44 | R>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717579G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717579G>C Locations: - p.Arg44Gly (Ensembl:ENST00000636154) - c.130C>G (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs2033739577 | 44 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000017.11:g.28717578C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717578C>T Locations: - p.Arg44Gln (Ensembl:ENST00000636154) - c.131G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs923884271 | 44 | R>W | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717579G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717579G>A Locations: - p.Arg44Trp (Ensembl:ENST00000636154) - c.130C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
COSV56395055 rs2033739135 | 45 | P>S | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000017.11:g.28717576G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717576G>A Locations: - p.Pro45Ser (Ensembl:ENST00000636154) - c.133C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1364447351 | 46 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.28717572G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717572G>A Locations: - p.Pro46Leu (Ensembl:ENST00000636154) - c.137C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1364447351 | 46 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000017.11:g.28717572G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717572G>C Locations: - p.Pro46Arg (Ensembl:ENST00000636154) - c.137C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs770468723 | 47 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000017.11:g.28717569G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717569G>C Locations: - p.Pro47Arg (Ensembl:ENST00000636154) - c.140C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1395368780 | 48 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000017.11:g.28717566T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717566T>C Locations: - p.Asp48Gly (Ensembl:ENST00000636154) - c.143A>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033735165 | 49 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717564C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717564C>T Locations: - p.Gly49Arg (Ensembl:ENST00000636154) - c.145G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033733643 | 51 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.28717557G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717557G>T Locations: - p.Pro51His (Ensembl:ENST00000636154) - c.152C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033733643 | 51 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000017.11:g.28717557G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717557G>A Locations: - p.Pro51Leu (Ensembl:ENST00000636154) - c.152C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1359183708 | 52 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717555G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717555G>A Locations: - p.Arg52Cys (Ensembl:ENST00000636154) - c.154C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1359183708 | 52 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.28717555G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717555G>T Locations: - p.Arg52Ser (Ensembl:ENST00000636154) - c.154C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033731950 | 53 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.28717551G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717551G>A Locations: - p.Pro53Leu (Ensembl:ENST00000636154) - c.158C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033730750 | 54 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.28717549G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717549G>C Locations: - p.Gln54Glu (Ensembl:ENST00000636154) - c.160C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs571207921 | 54 | Q>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000017.11:g.28717547T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717547T>A Locations: - p.Gln54His (Ensembl:ENST00000636154) - c.162A>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1363405524 | 56 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000017.11:g.28717542G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717542G>T Locations: - p.Ala56Glu (Ensembl:ENST00000636154) - c.167C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56392796 | 57 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717540C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717540C>T Locations: - p.Ala57Thr (cosmic curated:ENST00000636154) - c.169G>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1302548970 | 58 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000017.11:g.28717536T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717536T>A Locations: - p.Glu58Val (Ensembl:ENST00000636154) - c.173A>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs12952623 | 59 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.28717534C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717534C>A Locations: - p.Glu59Ter (Ensembl:ENST00000636154) - c.175G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1162896840 | 60 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.28717531A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717531A>C Locations: - p.Ser60Ala (Ensembl:ENST00000636154) - c.178T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1162896840 | 60 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.28717531A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717531A>G Locations: - p.Ser60Pro (Ensembl:ENST00000636154) - c.178T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1162896840 | 60 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000017.11:g.28717531A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717531A>T Locations: - p.Ser60Thr (Ensembl:ENST00000636154) - c.178T>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1171312208 | 61 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.28717528G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717528G>A Locations: - p.Pro61Ser (Ensembl:ENST00000636154) - c.181C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs11545701 | 62 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.28717525G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717525G>A Locations: - p.Arg62Cys (Ensembl:ENST00000636154) - c.184C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1246449951 | 62 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.28717524C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717524C>A Locations: - p.Arg62Leu (Ensembl:ENST00000636154) - c.185G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs11545701 | 62 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717525G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717525G>T Locations: - p.Arg62Ser (Ensembl:ENST00000636154) - c.184C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033722143 | 63 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717521G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717521G>A Locations: - p.Pro63Leu (Ensembl:ENST00000636154) - c.188C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1421310689 | 64 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.28717519T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717519T>A Locations: - p.Arg64Ter (Ensembl:ENST00000636154) - c.190A>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs12952613 | 64 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.28717518C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717518C>T Locations: - p.Arg64Lys (Ensembl:ENST00000636154) - c.191G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs12952613 | 64 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717518C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717518C>G Locations: - p.Arg64Thr (Ensembl:ENST00000636154) - c.191G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1008406728 | 65 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000017.11:g.28717515A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717515A>G Locations: - p.Val65Ala (Ensembl:ENST00000636154) - c.194T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1008406728 | 65 | V>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.28717515A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717515A>T Locations: - p.Val65Asp (Ensembl:ENST00000636154) - c.194T>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV108109767 | 67 | F>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717509A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717509A>G Locations: - p.Phe67Ser (cosmic curated:ENST00000636154) - c.200T>C (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033717984 | 68 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717507C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717507C>G Locations: - p.Gly68Arg (Ensembl:ENST00000636154) - c.202G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV107369951 rs926915440 | 69 | T>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.28717503G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717503G>A Locations: - p.Thr69Met (Ensembl:ENST00000636154) - c.206C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs2033716674 | 70 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000017.11:g.28717501G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717501G>A Locations: - p.Pro70Ser (Ensembl:ENST00000636154) - c.208C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1597782882 | 71 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000017.11:g.28717497C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717497C>T Locations: - p.Arg71Lys (Ensembl:ENST00000636154) - c.212G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033715846 | 72 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717495C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717495C>T Locations: - p.Ala72Thr (Ensembl:ENST00000636154) - c.214G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1224664678 | 72 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000017.11:g.28717494G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717494G>A Locations: - p.Ala72Val (Ensembl:ENST00000636154) - c.215C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs559186001 | 73 | R>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.28717492G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717492G>C Locations: - p.Arg73Gly (Ensembl:ENST00000636154) - c.217C>G (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs2033713827 | 73 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.28717491C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717491C>T Locations: - p.Arg73Gln (Ensembl:ENST00000636154) - c.218G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs559186001 | 73 | R>W | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717492G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717492G>A Locations: - p.Arg73Trp (Ensembl:ENST00000636154) - c.217C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1264359665 | 74 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717489C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717489C>T Locations: - p.Val74Met (Ensembl:ENST00000636154) - c.220G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1218856413 | 75 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.28717485A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717485A>G Locations: - p.Ile75Thr (Ensembl:ENST00000636154) - c.224T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033712538 | 75 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000017.11:g.28717486T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717486T>C Locations: - p.Ile75Val (Ensembl:ENST00000636154) - c.223A>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033711650 | 76 | L>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.51) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717482A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717482A>C Locations: - p.Leu76Trp (Ensembl:ENST00000636154) - c.227T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1047307053 | 77 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717479C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717479C>G Locations: - p.Gly77Ala (Ensembl:ENST00000636154) - c.230G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1047307053 | 77 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717479C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717479C>T Locations: - p.Gly77Asp (Ensembl:ENST00000636154) - c.230G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1295932412 | 78 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717476G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717476G>A Locations: - p.Ser78Leu (Ensembl:ENST00000636154) - c.233C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs996193217 | 79 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000017.11:g.28717473G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717473G>A Locations: - p.Pro79Leu (Ensembl:ENST00000636154) - c.236C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033710219 | 79 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000017.11:g.28717474G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717474G>A Locations: - p.Pro79Ser (Ensembl:ENST00000636154) - c.235C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1020972213 | 81 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717467G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717467G>A Locations: - p.Pro81Leu (Ensembl:ENST00000636154) - c.242C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV108109756 | 81 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717468G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717468G>A Locations: - p.Pro81Ser (cosmic curated:ENST00000636154) - c.241C>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs970708809 | 81 | P>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717468G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717468G>T Locations: - p.Pro81Thr (Ensembl:ENST00000636154) - c.241C>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
COSV107369936 rs11545700 | 82 | R>L | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000017.11:g.28717464C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717464C>A Locations: - p.Arg82Leu (Ensembl:ENST00000636154) - c.245G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs11545700 | 82 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000017.11:g.28717464C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717464C>T Locations: - p.Arg82Gln (Ensembl:ENST00000636154) - c.245G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1406124751 | 82 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717465G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717465G>A Locations: - p.Arg82Trp (Ensembl:ENST00000636154) - c.244C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1463641523 | 83 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000017.11:g.28717462C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717462C>A Locations: - p.Val83Leu (Ensembl:ENST00000636154) - c.247G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033705041 | 84 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000017.11:g.28717457A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717457A>C Locations: - p.Ile84Met (Ensembl:ENST00000636154) - c.252T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033705493 | 84 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717458A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717458A>C Locations: - p.Ile84Ser (Ensembl:ENST00000636154) - c.251T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs776083308 | 85 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717456C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717456C>A Locations: - p.Val85Phe (Ensembl:ENST00000636154) - c.253G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393489 | 88 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717446G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717446G>A Locations: - p.Pro88Leu (cosmic curated:ENST00000636154) - c.263C>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033703187 | 89 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000017.11:g.28717442C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717442C>A Locations: - p.Trp89Cys (Ensembl:ENST00000636154) - c.267G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs917674155 | 89 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated (0.89) Somatic: No Accession: NC_000017.11:g.28717444A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717444A>T Locations: - p.Trp89Arg (Ensembl:ENST00000636154) - c.265T>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1464885662 | 90 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.28717441G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717441G>A Locations: - p.Pro90Ser (Ensembl:ENST00000636154) - c.268C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1276209759 | 91 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000017.11:g.28717438C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717438C>A Locations: - p.Ala91Ser (Ensembl:ENST00000636154) - c.271G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1421254351 | 91 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.28717437G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717437G>A Locations: - p.Ala91Val (Ensembl:ENST00000636154) - c.272C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1266442669 | 92 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000017.11:g.28717435C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717435C>T Locations: - p.Val92Met (Ensembl:ENST00000636154) - c.274G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1480733046 | 93 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000017.11:g.28717432C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717432C>T Locations: - p.Val93Ile (Ensembl:ENST00000636154) - c.277G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1223507247 | 94 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000017.11:g.28717429C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717429C>T Locations: - p.Val94Ile (Ensembl:ENST00000636154) - c.280G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1223507247 | 94 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.28717429C>G, NC_000017.11:g.28717429C>A Codon: GTA/CTA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717429C>G, NC_000017.11:g.28717429C>A Locations: - p.Val94Leu (Ensembl:ENST00000636154) - c.280G>C (Ensembl:ENST00000636154) - c.280G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1188948362 | 95 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.28717425G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717425G>T Locations: - p.Ala95Glu (Ensembl:ENST00000636154) - c.284C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1481352646 | 96 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717422G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717422G>A Locations: - p.Ser96Phe (Ensembl:ENST00000636154) - c.287C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393576 | 97 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717419G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717419G>A Locations: - p.Pro97Leu (cosmic curated:ENST00000636154) - c.290C>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394304 | 97 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717419G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717419G>T Locations: - p.Pro97Gln (cosmic curated:ENST00000636154) - c.290C>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1265882418 | 97 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000017.11:g.28717420G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717420G>A Locations: - p.Pro97Ser (Ensembl:ENST00000636154) - c.289C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033695948 | 98 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.28717416C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717416C>T Locations: - p.Arg98Lys (Ensembl:ENST00000636154) - c.293G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1488029955 | 98 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717415T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717415T>G Locations: - p.Arg98Ser (Ensembl:ENST00000636154) - c.294A>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393417 | 100 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717410C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717410C>T Locations: - p.Arg100Gln (cosmic curated:ENST00000636154) - c.299G>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1056187739 | 102 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000017.11:g.28717404G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717404G>A Locations: - p.Pro102Leu (Ensembl:ENST00000636154) - c.305C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1032574818 | 103 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000017.11:g.28717402C>A, NC_000017.11:g.28717402C>G Codon: GTA/TTA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717402C>A, NC_000017.11:g.28717402C>G Locations: - p.Val103Leu (Ensembl:ENST00000636154) - c.307G>T (Ensembl:ENST00000636154) - c.307G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV104615708 | 104 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717399C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717399C>T Locations: - p.Gly104Arg (cosmic curated:ENST00000636154) - c.310G>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1308363898 | 105 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000017.11:g.28717396A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717396A>T Locations: - p.Ser105Thr (Ensembl:ENST00000636154) - c.313T>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1007432769 | 106 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000017.11:g.28717392G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717392G>A Locations: - p.Pro106Leu (Ensembl:ENST00000636154) - c.317C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1007432769 | 106 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000017.11:g.28717392G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717392G>T Locations: - p.Pro106Gln (Ensembl:ENST00000636154) - c.317C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs935176924 | 106 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000017.11:g.28717393G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717393G>A Locations: - p.Pro106Ser (Ensembl:ENST00000636154) - c.316C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1444657276 | 107 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.28717389C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717389C>T Locations: - p.Trp107Ter (Ensembl:ENST00000636154) - c.320G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1224597347 | 107 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000017.11:g.28717390A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717390A>G Locations: - p.Trp107Arg (Ensembl:ENST00000636154) - c.319T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033690069 | 108 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717386G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717386G>C Locations: - p.Pro108Arg (Ensembl:ENST00000636154) - c.323C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV105895120 | 108 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717387G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717387G>A Locations: - p.Pro108Ser (cosmic curated:ENST00000636154) - c.322C>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs923806063 | 109 | R>* | TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.28717384G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717384G>A Locations: - p.Arg109Ter (Ensembl:ENST00000636154) - c.325C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033687944 | 110 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.28717380A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717380A>G Locations: - p.Val110Ala (Ensembl:ENST00000636154) - c.329T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs776567471 | 111 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717377A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717377A>G Locations: - p.Val111Ala (Ensembl:ENST00000636154) - c.332T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs771241469 | 112 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717374A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717374A>G Locations: - p.Val112Ala (Ensembl:ENST00000636154) - c.335T>C (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs2033687195 | 112 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000017.11:g.28717375C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717375C>G Locations: - p.Val112Leu (Ensembl:ENST00000636154) - c.334G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1297785832 | 113 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717372C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717372C>T Locations: - p.Gly113Arg (Ensembl:ENST00000636154) - c.337G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1297785832 | 113 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717372C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717372C>A Locations: - p.Gly113Trp (Ensembl:ENST00000636154) - c.337G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033684181 | 114 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717368G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717368G>C Locations: - p.Thr114Arg (Ensembl:ENST00000636154) - c.341C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033683790 | 115 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000017.11:g.28717366G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717366G>A Locations: - p.Pro115Ser (Ensembl:ENST00000636154) - c.343C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1360469241 | 116 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000017.11:g.28717362C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717362C>T Locations: - p.Arg116Gln (Ensembl:ENST00000636154) - c.347G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99974208 rs777749917 | 117 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000017.11:g.28717359G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717359G>A Locations: - p.Pro117Leu (Ensembl:ENST00000636154) - c.350C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs777749917 | 117 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717359G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717359G>T Locations: - p.Pro117Gln (Ensembl:ENST00000636154) - c.350C>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs747212672 | 117 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000017.11:g.28717360G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717360G>A Locations: - p.Pro117Ser (Ensembl:ENST00000636154) - c.349C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs941761560 | 119 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000017.11:g.28717354C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717354C>A Locations: - p.Val119Leu (Ensembl:ENST00000636154) - c.355G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs941761560 | 119 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717354C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717354C>T Locations: - p.Val119Met (Ensembl:ENST00000636154) - c.355G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1376968030 | 121 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000017.11:g.28717348C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717348C>T Locations: - p.Val121Ile (Ensembl:ENST00000636154) - c.361G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs938214098 | 123 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717341G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717341G>A Locations: - p.Ser123Phe (Ensembl:ENST00000636154) - c.368C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs113657810 | 123 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717342A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717342A>G Locations: - p.Ser123Pro (Ensembl:ENST00000636154) - c.367T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs754806475 | 124 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000017.11:g.28717339G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717339G>A Locations: - p.Pro124Ser (Ensembl:ENST00000636154) - c.370C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1456180951 | 125 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717336G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717336G>A Locations: - p.Arg125Cys (Ensembl:ENST00000636154) - c.373C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs753458633 | 125 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000017.11:g.28717335C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717335C>T Locations: - p.Arg125His (Ensembl:ENST00000636154) - c.374G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1456180951 | 125 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717336G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717336G>T Locations: - p.Arg125Ser (Ensembl:ENST00000636154) - c.373C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs765796000 | 126 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000017.11:g.28717332G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717332G>C Locations: - p.Ala126Gly (Ensembl:ENST00000636154) - c.377C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2151711351 | 126 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000017.11:g.28717333C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717333C>A Locations: - p.Ala126Ser (Ensembl:ENST00000636154) - c.376G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs765796000 | 126 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000017.11:g.28717332G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717332G>A Locations: - p.Ala126Val (Ensembl:ENST00000636154) - c.377C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1254745084 | 127 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000017.11:g.28717329C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717329C>A Locations: - p.Arg127Leu (Ensembl:ENST00000636154) - c.380G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99973834 rs1254745084 | 127 | R>Q | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.59) Somatic: Yes Accession: NC_000017.11:g.28717329C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717329C>T Locations: - p.Arg127Gln (Ensembl:ENST00000636154) - c.380G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56392468 rs1344795621 | 127 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000017.11:g.28717330G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717330G>A Locations: - p.Arg127Trp (Ensembl:ENST00000636154) - c.379C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1241831923 | 128 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000017.11:g.28717327C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717327C>G Locations: - p.Val128Leu (Ensembl:ENST00000636154) - c.382G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs750050761 | 130 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000017.11:g.28717319G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717319G>C Locations: - p.Asp130Glu (Ensembl:ENST00000636154) - c.390C>G (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1444732947 | 131 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000017.11:g.28717318C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717318C>G Locations: - p.Ala131Pro (Ensembl:ENST00000636154) - c.391G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56392539 | 131 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717318C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717318C>T Locations: - p.Ala131Thr (cosmic curated:ENST00000636154) - c.391G>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV104396311 rs1385263915 | 131 | A>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000017.11:g.28717317G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717317G>A Locations: - p.Ala131Val (Ensembl:ENST00000636154) - c.392C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1396371970 | 133 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000017.11:g.28717311G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717311G>A Locations: - p.Pro133Leu (Ensembl:ENST00000636154) - c.398C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1396371970 | 133 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000017.11:g.28717311G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717311G>C Locations: - p.Pro133Arg (Ensembl:ENST00000636154) - c.398C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394963 | 134 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717308G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717308G>A Locations: - p.Ala134Val (cosmic curated:ENST00000636154) - c.401C>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99974133 rs775648432 | 135 | S>W | cosmic curated ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000017.11:g.28717305G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717305G>C Locations: - p.Ser135Trp (Ensembl:ENST00000636154) - c.404C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs759945894 | 136 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000017.11:g.28717302G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717302G>T Locations: - p.Ala136Glu (Ensembl:ENST00000636154) - c.407C>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs759945894 | 136 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000017.11:g.28717302G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717302G>C Locations: - p.Ala136Gly (Ensembl:ENST00000636154) - c.407C>G (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs759945894 | 136 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.28717302G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717302G>A Locations: - p.Ala136Val (Ensembl:ENST00000636154) - c.407C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1157514627 | 137 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000017.11:g.28717300G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717300G>T Locations: - p.Pro137Thr (Ensembl:ENST00000636154) - c.409C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1437347433 | 138 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000017.11:g.28717296G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717296G>C Locations: - p.Ser138Cys (Ensembl:ENST00000636154) - c.413C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1437347433 | 138 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000017.11:g.28717296G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717296G>T Locations: - p.Ser138Tyr (Ensembl:ENST00000636154) - c.413C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393972 rs1567738679 | 139 | Q>* | cosmic curated Ensembl | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717294G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717294G>A Locations: - p.Gln139Ter (Ensembl:ENST00000636154) - c.415C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs747045105 | 139 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000017.11:g.28717293T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717293T>C Locations: - p.Gln139Arg (Ensembl:ENST00000636154) - c.416A>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs867057421 | 140 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000017.11:g.28717290C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717290C>A Locations: - p.Gly140Val (Ensembl:ENST00000636154) - c.419G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs773592032 | 141 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000017.11:g.28717288C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717288C>A Locations: - p.Ala141Ser (Ensembl:ENST00000636154) - c.421G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1442152706 | 141 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28717287G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717287G>A Locations: - p.Ala141Val (Ensembl:ENST00000636154) - c.422C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99973974 | 142 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717284A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717284A>G Locations: - p.Leu142Pro (cosmic curated:ENST00000636154) - c.425T>C (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1207354026 | 143 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000017.11:g.28717282G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717282G>C Locations: - p.Gln143Glu (Ensembl:ENST00000636154) - c.427C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs951570085 | 144 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.28717278C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717278C>G Locations: - p.Gly144Ala (Ensembl:ENST00000636154) - c.431G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs370982081 | 144 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000017.11:g.28717279C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717279C>T Locations: - p.Gly144Ser (Ensembl:ENST00000636154) - c.430G>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1286017198 | 146 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000017.11:g.28717272C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717272C>T Locations: - p.Arg146Lys (Ensembl:ENST00000636154) - c.437G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1597780506 | 147 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28717269T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717269T>G Locations: - p.Gln147Pro (Ensembl:ENST00000636154) - c.440A>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV105895121 | 148 | D>VF | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717266T> Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717266T> Locations: - p.Asp148ValPheSerTer? (cosmic curated:ENST00000636154) - c.443del (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033655158 | 149 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000017.11:g.28717264C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717264C>T Locations: - p.Glu149Lys (Ensembl:ENST00000636154) - c.445G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs988185296 | 150 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000017.11:g.28717260T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717260T>C Locations: - p.His150Arg (Ensembl:ENST00000636154) - c.449A>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs958360393 | 153 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000017.11:g.28717251G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717251G>A Locations: - p.Thr153Ile (Ensembl:ENST00000636154) - c.458C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1315939915 | 154 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000017.11:g.28717249G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717249G>A Locations: - p.Arg154Cys (Ensembl:ENST00000636154) - c.460C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1315939915 | 154 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000017.11:g.28717249G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717249G>C Locations: - p.Arg154Gly (Ensembl:ENST00000636154) - c.460C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1567738176 | 154 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000017.11:g.28717248C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717248C>T Locations: - p.Arg154His (Ensembl:ENST00000636154) - c.461G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033650048 | 155 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28717246C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717246C>T Locations: - p.Ala155Thr (Ensembl:ENST00000636154) - c.463G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99974079 | 156 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717241C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717241C>A Locations: - p.Glu156Asp (cosmic curated:ENST00000636154) - c.468G>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs778569401 | 156 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000017.11:g.28717242T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717242T>C Locations: - p.Glu156Gly (Ensembl:ENST00000636154) - c.467A>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033647243 | 157 | G>* | TOPMed | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.28717240C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717240C>A Locations: - p.Gly157Ter (Ensembl:ENST00000636154) - c.469G>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs755004460 | 157 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28717239C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717239C>T Locations: - p.Gly157Glu (Ensembl:ENST00000636154) - c.470G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs749161318 | 158 | S>* | ExAC gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000017.11:g.28717236G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717236G>T Locations: - p.Ser158Ter (Ensembl:ENST00000636154) - c.473C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56392416 | 158 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717237A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717237A>T Locations: - p.Ser158Thr (cosmic curated:ENST00000636154) - c.472T>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs779659664 | 159 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28717233C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717233C>T Locations: - p.Arg159His (Ensembl:ENST00000636154) - c.476G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1377191938 | 159 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.28717234G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717234G>T Locations: - p.Arg159Ser (Ensembl:ENST00000636154) - c.475C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs755656549 | 160 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.28717231G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717231G>C Locations: - p.Pro160Ala (Ensembl:ENST00000636154) - c.478C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs749874925 | 162 | G>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.28717225C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717225C>A Locations: - p.Gly162Ter (Ensembl:ENST00000636154) - c.484G>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs780822468 | 162 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000017.11:g.28717224C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717224C>T Locations: - p.Gly162Glu (Ensembl:ENST00000636154) - c.485G>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
COSV56394211 rs749874925 | 162 | G>R | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.27) Somatic: Yes Accession: NC_000017.11:g.28717225C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717225C>T Locations: - p.Gly162Arg (Ensembl:ENST00000636154) - c.484G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1472270174 | 163 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000017.11:g.28717222C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717222C>T Locations: - p.Ala163Thr (Ensembl:ENST00000636154) - c.487G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs143463372 | 164 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.28717219C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717219C>T Locations: - p.Ala164Thr (Ensembl:ENST00000636154) - c.490G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394515 | 165 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717215G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717215G>A Locations: - p.Pro165Leu (cosmic curated:ENST00000636154) - c.494C>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99973864 | 165 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717215G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717215G>T Locations: - p.Pro165Gln (cosmic curated:ENST00000636154) - c.494C>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394002 | 165 | P>QF | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28717218G> Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28717218G> Locations: - p.Pro165GlnPheSerTer? (cosmic curated:ENST00000636154) - c.494del (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033640198 | 165 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000017.11:g.28717216G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28717216G>A Locations: - p.Pro165Ser (Ensembl:ENST00000636154) - c.493C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393055 | 168 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716989C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716989C>A Locations: - p.Glu168Ter (cosmic curated:ENST00000636154) - c.502G>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs146560008 | 168 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000017.11:g.28716989C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716989C>T Locations: - p.Glu168Lys (Ensembl:ENST00000636154) - c.502G>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
COSV56392932 | 168 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716989C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716989C>G Locations: - p.Glu168Gln (cosmic curated:ENST00000636154) - c.502G>C (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs11545699 | 169 | E>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000017.11:g.28716986C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716986C>T Locations: - p.Glu169Lys (Ensembl:ENST00000636154) - c.505G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs762657234 | 170 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28716982C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716982C>T Locations: - p.Gly170Glu (Ensembl:ENST00000636154) - c.509G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99973896 rs762657234 | 170 | G>V | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000017.11:g.28716982C>A Codon: GAG/TAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716982C>A Locations: - p.G170V (NCI-TCGA:ENST00000636154) - p.Gly170Val (Ensembl:ENST00000636154) - c.509G>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
COSV106432471 rs1477051432 | 172 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000017.11:g.28716977G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716977G>A Locations: - p.Arg172Cys (Ensembl:ENST00000636154) - c.514C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1477051432 | 172 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000017.11:g.28716977G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716977G>C Locations: - p.Arg172Gly (Ensembl:ENST00000636154) - c.514C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs775256706 | 173 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.28716974A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716974A>G Locations: - p.Phe173Leu (Ensembl:ENST00000636154) - c.517T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs769779077 | 173 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000017.11:g.28716973A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716973A>G Locations: - p.Phe173Ser (Ensembl:ENST00000636154) - c.518T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV99974093 | 175 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716967C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716967C>A Locations: - p.Arg175Leu (cosmic curated:ENST00000636154) - c.524G>T (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1236653446 | 175 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000017.11:g.28716967C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716967C>G Locations: - p.Arg175Pro (Ensembl:ENST00000636154) - c.524G>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1236653446 | 175 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000017.11:g.28716967C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716967C>T Locations: - p.Arg175Gln (Ensembl:ENST00000636154) - c.524G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1457476368 | 175 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28716968G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716968G>A Locations: - p.Arg175Trp (Ensembl:ENST00000636154) - c.523C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393403 | 176 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716965C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716965C>T Locations: - p.Ala176Thr (cosmic curated:ENST00000636154) - c.526G>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393895 rs745779703 | 176 | A>V | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000017.11:g.28716964G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716964G>A Locations: - p.Ala176Val (Ensembl:ENST00000636154) - c.527C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
COSV107369946 rs140500150 | 177 | Q>* | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716962G>A Codon: CAA/TAA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716962G>A Locations: - p.Gln177Ter (Ensembl:ENST00000636154) - c.529C>T (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs151293243 | 177 | Q>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.28716961T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716961T>C Locations: - p.Gln177Arg (Ensembl:ENST00000636154) - c.530A>G (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs914201967 | 181 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000017.11:g.28716950G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716950G>A Locations: - p.Pro181Ser (Ensembl:ENST00000636154) - c.541C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56394996 | 181 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716950G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716950G>T Locations: - p.Pro181Thr (cosmic curated:ENST00000636154) - c.541C>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs746477626 | 182 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.66) Somatic: No Accession: NC_000017.11:g.28716946G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716946G>A Locations: - p.Pro182Leu (Ensembl:ENST00000636154) - c.545C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393305 | 182 | P>RF | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716950G> Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716950G> Locations: - p.Pro182ArgPheSerTer? (cosmic curated:ENST00000636154) - c.545del (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs988539920 | 183 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000017.11:g.28716944G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716944G>A Locations: - p.Arg183Cys (Ensembl:ENST00000636154) - c.547C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56395038 | 183 | R>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716943C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716943C>T Locations: - p.Arg183His (cosmic curated:ENST00000636154) - c.548G>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs936693635 | 185 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.28716937A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716937A>G Locations: - p.Leu185Pro (Ensembl:ENST00000636154) - c.554T>C (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033555988 | 187 | L>R | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.28716931A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716931A>C Locations: - p.Leu187Arg (Ensembl:ENST00000636154) - c.560T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1240310759 | 187 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000017.11:g.28716932G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716932G>C Locations: - p.Leu187Val (Ensembl:ENST00000636154) - c.559C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1375687733 | 188 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28716928G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716928G>A Locations: - p.Pro188Leu (Ensembl:ENST00000636154) - c.563C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1375687733 | 188 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.28716928G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716928G>T Locations: - p.Pro188Gln (Ensembl:ENST00000636154) - c.563C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2151709033 | 188 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000017.11:g.28716929G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716929G>A Locations: - p.Pro188Ser (Ensembl:ENST00000636154) - c.562C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1328921718 | 189 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.28716925C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716925C>T Locations: - p.Gly189Glu (Ensembl:ENST00000636154) - c.566G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs2033553588 | 190 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000017.11:g.28716923C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716923C>T Locations: - p.Ala190Thr (Ensembl:ENST00000636154) - c.568G>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs902276395 | 191 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.28716919G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716919G>T Locations: - p.Pro191Gln (Ensembl:ENST00000636154) - c.572C>A (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1454896185 | 191 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000017.11:g.28716920G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716920G>A Locations: - p.Pro191Ser (Ensembl:ENST00000636154) - c.571C>T (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs1360129104 | 192 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000017.11:g.28716915G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716915G>C Locations: - p.Asp192Glu (Ensembl:ENST00000636154) - c.576C>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
COSV56393359 rs1334034774 | 193 | R>G | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000017.11:g.28716914T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716914T>C Locations: - p.Arg193Gly (Ensembl:ENST00000636154) - c.577A>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs758002535 | 195 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.28716908G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716908G>C Locations: - p.Arg195Gly (Ensembl:ENST00000636154) - c.583C>G (Ensembl:ENST00000636154) Source type: large scale study | |||||||
COSV107370062 | 195 | R>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000017.11:g.28716907C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000017.11:g.28716907C>T Locations: - p.Arg195His (cosmic curated:ENST00000636154) - c.584G>A (cosmic curated:ENST00000636154) Source type: large scale study Cross-references: | |||||||
rs758002535 | 195 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.28716908G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716908G>T Locations: - p.Arg195Ser (Ensembl:ENST00000636154) - c.583C>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs749739135 | 196 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.28716905C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716905C>T Locations: - p.Gly196Arg (Ensembl:ENST00000636154) - c.586G>A (Ensembl:ENST00000636154) Source type: large scale study | |||||||
rs1181062242 | 199 | *>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000017.11:g.28716055A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 17q11.2 Genomic location: NC_000017.11:g.28716055A>C Locations: - p.*199Eext*19 (NCI-TCGA:ENST00000636154) - p.Ter199GluextTer19 (Ensembl:ENST00000636154) - c.595T>G (Ensembl:ENST00000636154) Source type: large scale study Cross-references: |