O08852 · PKD1_MOUSE
- ProteinPolycystin-1
- GenePkd1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids4293 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3723472 | 3 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000083.7:g.24769244T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24769244T>C Locations: - p.Leu3Pro (Ensembl:ENSMUST00000035565) - c.8T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs107641960 | 20 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000083.7:g.24769295G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24769295G>A Locations: - p.Gly20Glu (Ensembl:ENSMUST00000035565) - c.59G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs246149213 | 95 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24783192A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24783192A>G Locations: - p.Glu95Gly (Ensembl:ENSMUST00000035565) - c.284A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433571 | 101 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24783324A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24783324A>T Locations: - p.Asn101Ile (Ensembl:ENSMUST00000035565) - c.302A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3406589151 | 102 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000083.7:g.24783327G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24783327G>A Locations: - p.Arg102Lys (Ensembl:ENSMUST00000035565) - c.305G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389438207 | 111 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.24783354T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24783354T>A Locations: - p.Phe111Tyr (Ensembl:ENSMUST00000035565) - c.332T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399250 | 128 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24783575G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24783575G>T Locations: - p.Glu128Ter (Ensembl:ENSMUST00000035565) - c.382G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353665 | 184 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.24784005C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784005C>G Locations: - p.Leu184Val (Ensembl:ENSMUST00000035565) - c.550C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs240140382 | 190 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.24784023G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784023G>A Locations: - p.Gly190Ser (Ensembl:ENSMUST00000035565) - c.568G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353656 | 225 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24784129C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784129C>A Locations: - p.Ser225Ter (Ensembl:ENSMUST00000035565) - c.674C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409228 | 233 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24784152G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784152G>A Locations: - p.Gly233Arg (Ensembl:ENSMUST00000035565) - c.697G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439333 | 240 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24784174C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784174C>T Locations: - p.Ser240Phe (Ensembl:ENSMUST00000035565) - c.719C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389451051 | 248 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24784198G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784198G>A Locations: - p.Cys248Tyr (Ensembl:ENSMUST00000035565) - c.743G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3405714469 | 286 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.24784312C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784312C>G Locations: - p.Ser286Cys (Ensembl:ENSMUST00000035565) - c.857C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407348880 | 286 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000083.7:g.24784311T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784311T>A Locations: - p.Ser286Thr (Ensembl:ENSMUST00000035565) - c.856T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs227557533 | 303 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000083.7:g.24784362A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784362A>G Locations: - p.Thr303Ala (Ensembl:ENSMUST00000035565) - c.907A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs264415704 | 341 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000083.7:g.24784477C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784477C>T Locations: - p.Ala341Val (Ensembl:ENSMUST00000035565) - c.1022C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442014 | 367 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24784555T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784555T>A Locations: - p.Val367Glu (Ensembl:ENSMUST00000035565) - c.1100T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs228090772 | 369 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24784561G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784561G>T Locations: - p.Ser369Ile (Ensembl:ENSMUST00000035565) - c.1106G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs49772838 | 435 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24784862C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784862C>G Locations: - p.Gln435Glu (Ensembl:ENSMUST00000035565) - c.1303C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446753 | 439 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000083.7:g.24784875G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24784875G>T Locations: - p.Trp439Leu (Ensembl:ENSMUST00000035565) - c.1316G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443137 | 469 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24786120G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24786120G>T Locations: - p.Gly469Cys (Ensembl:ENSMUST00000035565) - c.1405G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407511549 | 493 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24786193A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24786193A>T Locations: - p.Asn493Ile (Ensembl:ENSMUST00000035565) - c.1478A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407580214 | 493 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24786192A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24786192A>T Locations: - p.Asn493Tyr (Ensembl:ENSMUST00000035565) - c.1477A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399271 | 507 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24786235G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24786235G>A Locations: - p.Cys507Tyr (Ensembl:ENSMUST00000035565) - c.1520G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407162817 | 519 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24786271A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24786271A>G Locations: - p.Asp519Gly (Ensembl:ENSMUST00000035565) - c.1556A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3552687284 | 532 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000083.7:g.24786310G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24786310G>A Locations: - p.Arg532Gln (Ensembl:ENSMUST00000035565) - c.1595G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389128 | 551 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000083.7:g.24786619G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24786619G>C Locations: - p.Gly551Ala (Ensembl:ENSMUST00000035565) - c.1652G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353691 | 603 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000083.7:g.24787276G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787276G>T Locations: - p.Gln603His (Ensembl:ENSMUST00000035565) - c.1809G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439329 | 624 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000083.7:g.24787624A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787624A>T Locations: - p.Glu624Val (Ensembl:ENSMUST00000035565) - c.1871A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3553069235 | 634 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000083.7:g.24787654A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787654A>C Locations: - p.Lys634Thr (Ensembl:ENSMUST00000035565) - c.1901A>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs48951432 | 644 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000083.7:g.24787684G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787684G>A Locations: - p.Gly644Glu (Ensembl:ENSMUST00000035565) - c.1931G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442009 | 658 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000083.7:g.24787726A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787726A>T Locations: - p.His658Leu (Ensembl:ENSMUST00000035565) - c.1973A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389438289 | 666 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24787750C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787750C>A Locations: - p.Ser666Ter (Ensembl:ENSMUST00000035565) - c.1997C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389438196 | 673 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000083.7:g.24787771C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787771C>T Locations: - p.Ala673Val (Ensembl:ENSMUST00000035565) - c.2018C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456170 | 682 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24787797T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787797T>C Locations: - p.Phe682Leu (Ensembl:ENSMUST00000035565) - c.2044T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389441998 | 694 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.24787833T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24787833T>A Locations: - p.Leu694Met (Ensembl:ENSMUST00000035565) - c.2080T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407665511 | 703 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000083.7:g.24788351C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788351C>A Locations: - p.Pro703His (Ensembl:ENSMUST00000035565) - c.2108C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407665502 | 704 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24788354T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788354T>G Locations: - p.Met704Arg (Ensembl:ENSMUST00000035565) - c.2111T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353630 | 709 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24788369T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788369T>C Locations: - p.Leu709Pro (Ensembl:ENSMUST00000035565) - c.2126T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353663 | 725 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000083.7:g.24788417C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788417C>T Locations: - p.Pro725Leu (Ensembl:ENSMUST00000035565) - c.2174C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439267 | 731 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.24788435C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788435C>T Locations: - p.Pro731Leu (Ensembl:ENSMUST00000035565) - c.2192C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs108516640 | 735 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000083.7:g.24788447T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788447T>C Locations: - p.Leu735Pro (Ensembl:ENSMUST00000035565) - c.2204T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33254469 | 771 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24788555G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788555G>A Locations: - p.Arg771Gln (Ensembl:ENSMUST00000035565) - c.2312G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446739 | 785 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000083.7:g.24788597A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788597A>T Locations: - p.Gln785Leu (Ensembl:ENSMUST00000035565) - c.2354A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409256 | 789 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000083.7:g.24788608C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788608C>G Locations: - p.His789Asp (Ensembl:ENSMUST00000035565) - c.2365C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389438223 | 808 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.24788666G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788666G>A Locations: - p.Ser808Asn (Ensembl:ENSMUST00000035565) - c.2423G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs250218931 | 815 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24788686A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788686A>G Locations: - p.Ile815Val (Ensembl:ENSMUST00000035565) - c.2443A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432260 | 825 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24788717C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788717C>T Locations: - p.Pro825Leu (Ensembl:ENSMUST00000035565) - c.2474C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs212154969 | 830 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24788731A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788731A>G Locations: - p.Ile830Val (Ensembl:ENSMUST00000035565) - c.2488A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433258 | 854 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.24788804A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788804A>T Locations: - p.Gln854Leu (Ensembl:ENSMUST00000035565) - c.2561A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3552726611 | 869 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24788849C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788849C>T Locations: - p.Pro869Leu (Ensembl:ENSMUST00000035565) - c.2606C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33551780 | 871 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000083.7:g.24788856G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788856G>C Locations: - p.Glu871Asp (Ensembl:ENSMUST00000035565) - c.2613G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407511554 | 873 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24788860G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788860G>C Locations: - p.Asp873His (Ensembl:ENSMUST00000035565) - c.2617G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389438262 | 886 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.24788900C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788900C>T Locations: - p.Thr886Ile (Ensembl:ENSMUST00000035565) - c.2657C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353699 | 890 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.24788912T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24788912T>A Locations: - p.Val890Glu (Ensembl:ENSMUST00000035565) - c.2669T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389157 | 934 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.24789044G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24789044G>A Locations: - p.Ser934Asn (Ensembl:ENSMUST00000035565) - c.2801G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33624118 | 985 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24790271A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24790271A>G Locations: - p.Ile985Val (Ensembl:ENSMUST00000035565) - c.2953A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433261 | 993 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24790505C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24790505C>T Locations: - p.Ser993Phe (Ensembl:ENSMUST00000035565) - c.2978C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433500 | 1005 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24790540G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24790540G>T Locations: - p.Val1005Phe (Ensembl:ENSMUST00000035565) - c.3013G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442016 | 1032 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000083.7:g.24790621G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24790621G>A Locations: - p.Ala1032Thr (Ensembl:ENSMUST00000035565) - c.3094G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389441997 | 1042 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24790652C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24790652C>T Locations: - p.Ala1042Val (Ensembl:ENSMUST00000035565) - c.3125C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353635 | 1055 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000083.7:g.24790970A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24790970A>G Locations: - p.Glu1055Gly (Ensembl:ENSMUST00000035565) - c.3164A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389450987 | 1075 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24791029A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791029A>T Locations: - p.Thr1075Ser (Ensembl:ENSMUST00000035565) - c.3223A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs47376736 | 1080 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.24791044C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791044C>A Locations: - p.Leu1080Met (Ensembl:ENSMUST00000035565) - c.3238C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420135 | 1117 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000083.7:g.24791664G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791664G>A Locations: - p.Arg1117His (Ensembl:ENSMUST00000035565) - c.3350G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433244 | 1140 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24791732T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791732T>A Locations: - p.Phe1140Ile (Ensembl:ENSMUST00000035565) - c.3418T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442027 | 1159 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24791789G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791789G>A Locations: - p.Asp1159Asn (Ensembl:ENSMUST00000035565) - c.3475G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433214 | 1168 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000083.7:g.24791817A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791817A>T Locations: - p.Gln1168Leu (Ensembl:ENSMUST00000035565) - c.3503A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33501677 | 1180 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000083.7:g.24791852G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791852G>A Locations: - p.Ala1180Thr (Ensembl:ENSMUST00000035565) - c.3538G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389153 | 1203 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000083.7:g.24791923C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24791923C>G Locations: - p.Phe1203Leu (Ensembl:ENSMUST00000035565) - c.3609C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389441965 | 1231 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24792006C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792006C>T Locations: - p.Ser1231Leu (Ensembl:ENSMUST00000035565) - c.3692C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439313 | 1266 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24792110G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792110G>T Locations: - p.Val1266Leu (Ensembl:ENSMUST00000035565) - c.3796G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33423434 | 1292 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.74) Somatic: No Accession: NC_000083.7:g.24792189A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792189A>G Locations: - p.His1292Arg (Ensembl:ENSMUST00000035565) - c.3875A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456160 | 1302 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.24792218C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792218C>G Locations: - p.Gln1302Glu (Ensembl:ENSMUST00000035565) - c.3904C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456174 | 1315 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24792258C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792258C>A Locations: - p.Pro1315His (Ensembl:ENSMUST00000035565) - c.3944C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420206 | 1331 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000083.7:g.24792306T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792306T>A Locations: - p.Val1331Glu (Ensembl:ENSMUST00000035565) - c.3992T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446704 | 1358 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.24792387A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792387A>T Locations: - p.His1358Leu (Ensembl:ENSMUST00000035565) - c.4073A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353704 | 1365 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24792409T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792409T>G Locations: - p.Phe1365Leu (Ensembl:ENSMUST00000035565) - c.4095T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439320 | 1400 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24792512C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792512C>G Locations: - p.Pro1400Ala (Ensembl:ENSMUST00000035565) - c.4198C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399326 | 1429 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24792601C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792601C>A Locations: - p.Tyr1429Ter (Ensembl:ENSMUST00000035565) - c.4287C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389353634 | 1477 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.24792743C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792743C>G Locations: - p.Gln1477Glu (Ensembl:ENSMUST00000035565) - c.4429C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443161 | 1489 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000083.7:g.24792779C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792779C>T Locations: - p.Pro1489Ser (Ensembl:ENSMUST00000035565) - c.4465C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433251 | 1496 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24792800C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792800C>A Locations: - p.Leu1496Met (Ensembl:ENSMUST00000035565) - c.4486C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409259 | 1506 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: NC_000083.7:g.24792830G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792830G>A Locations: - p.Glu1506Lys (Ensembl:ENSMUST00000035565) - c.4516G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434089 | 1528 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24792896A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792896A>G Locations: - p.Ser1528Gly (Ensembl:ENSMUST00000035565) - c.4582A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389164 | 1561 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24792997C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24792997C>A Locations: - p.Ser1561Arg (Ensembl:ENSMUST00000035565) - c.4683C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434125 | 1565 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.24793007T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793007T>A Locations: - p.Leu1565Met (Ensembl:ENSMUST00000035565) - c.4693T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434086 | 1577 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24793043G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793043G>C Locations: - p.Val1577Leu (Ensembl:ENSMUST00000035565) - c.4729G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434122 | 1586 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24793070C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793070C>T Locations: - p.Pro1586Ser (Ensembl:ENSMUST00000035565) - c.4756C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442005 | 1588 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000083.7:g.24793076G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793076G>A Locations: - p.Gly1588Arg (Ensembl:ENSMUST00000035565) - c.4762G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407848155 | 1609 | N>IQ | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24793139_24793140insTACAGCTGTAACCACAGCTGT Codon: AAT/ATACAGCTGTAACCACAGCTGTAT Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793139_24793140insTACAGCTGTAACCACAGCTGT Locations: - p.Asn1609delinsIleGlnLeuTer (Ensembl:ENSMUST00000035565) - c.4825_4826insTACAGCTGTAACCACAGCTGT (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389161 | 1629 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24793200T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793200T>C Locations: - p.Leu1629Pro (Ensembl:ENSMUST00000035565) - c.4886T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs29516184 | 1632 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24793209C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793209C>T Locations: - p.Ala1632Val (Ensembl:ENSMUST00000035565) - c.4895C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433553 | 1658 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24793287T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793287T>C Locations: - p.Ile1658Thr (Ensembl:ENSMUST00000035565) - c.4973T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33598741 | 1684 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000083.7:g.24793364T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793364T>G Locations: - p.Ser1684Ala (Ensembl:ENSMUST00000035565) - c.5050T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389450991 | 1701 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24793415G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793415G>A Locations: - p.Gly1701Ser (Ensembl:ENSMUST00000035565) - c.5101G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433486 | 1723 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24793482C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793482C>T Locations: - p.Ser1723Phe (Ensembl:ENSMUST00000035565) - c.5168C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443125 | 1743 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24793542G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793542G>A Locations: - p.Ser1743Asn (Ensembl:ENSMUST00000035565) - c.5228G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389071 | 1761 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000083.7:g.24793595A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793595A>G Locations: - p.Met1761Val (Ensembl:ENSMUST00000035565) - c.5281A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443134 | 1768 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24793617T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793617T>G Locations: - p.Phe1768Cys (Ensembl:ENSMUST00000035565) - c.5303T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs48866526 | 1770 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000083.7:g.24793622G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793622G>A Locations: - p.Ala1770Thr (Ensembl:ENSMUST00000035565) - c.5308G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs47072433 | 1805 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.91) Somatic: No Accession: NC_000083.7:g.24793728G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793728G>A Locations: - p.Arg1805Lys (Ensembl:ENSMUST00000035565) - c.5414G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443149 | 1839 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24793829C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793829C>T Locations: - p.Pro1839Ser (Ensembl:ENSMUST00000035565) - c.5515C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420217 | 1845 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24793848G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793848G>A Locations: - p.Ser1845Asn (Ensembl:ENSMUST00000035565) - c.5534G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs217242917 | 1857 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000083.7:g.24793884G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793884G>A Locations: - p.Ser1857Asn (Ensembl:ENSMUST00000035565) - c.5570G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389451006 | 1881 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24793955G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24793955G>T Locations: - p.Glu1881Ter (Ensembl:ENSMUST00000035565) - c.5641G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439325 | 1954 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000083.7:g.24794176T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794176T>A Locations: - p.His1954Gln (Ensembl:ENSMUST00000035565) - c.5862T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420172 | 1977 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24794243G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794243G>C Locations: - p.Glu1977Gln (Ensembl:ENSMUST00000035565) - c.5929G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432244 | 1993 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24794291C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794291C>T Locations: - p.Gln1993Ter (Ensembl:ENSMUST00000035565) - c.5977C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389438215 | 2003 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.24794322A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794322A>G Locations: - p.Tyr2003Cys (Ensembl:ENSMUST00000035565) - c.6008A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443148 | 2009 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24794339G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794339G>T Locations: - p.Val2009Phe (Ensembl:ENSMUST00000035565) - c.6025G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389152 | 2020 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24794373G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794373G>T Locations: - p.Arg2020Leu (Ensembl:ENSMUST00000035565) - c.6059G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433507 | 2037 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000083.7:g.24794423C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794423C>T Locations: - p.Arg2037Cys (Ensembl:ENSMUST00000035565) - c.6109C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407162822 | 2040 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24794433A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794433A>T Locations: - p.Asn2040Ile (Ensembl:ENSMUST00000035565) - c.6119A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3406589133 | 2041 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000083.7:g.24794435G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794435G>A Locations: - p.Glu2041Lys (Ensembl:ENSMUST00000035565) - c.6121G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407848136 | 2049 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.24794460T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794460T>A Locations: - p.Leu2049His (Ensembl:ENSMUST00000035565) - c.6146T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3412986841 | 2062 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24794499T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794499T>A Locations: - p.Leu2062His (Ensembl:ENSMUST00000035565) - c.6185T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33197616 | 2085 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24794567C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794567C>T Locations: - p.Arg2085Cys (Ensembl:ENSMUST00000035565) - c.6253C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432306 | 2099 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000083.7:g.24794610A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794610A>T Locations: - p.Gln2099Leu (Ensembl:ENSMUST00000035565) - c.6296A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420212 | 2108 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24794638C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794638C>A Locations: - p.His2108Gln (Ensembl:ENSMUST00000035565) - c.6324C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389094 | 2110 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24794642T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794642T>C Locations: - p.Tyr2110His (Ensembl:ENSMUST00000035565) - c.6328T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs864279537 | 2122 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24794678G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794678G>C Locations: - p.Ala2122Pro (Ensembl:ENSMUST00000035565) - c.6364G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456162 | 2224 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24794984T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24794984T>A Locations: - p.Tyr2224Asn (Ensembl:ENSMUST00000035565) - c.6670T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409296 | 2232 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24795008T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795008T>G Locations: - p.Phe2232Val (Ensembl:ENSMUST00000035565) - c.6694T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389354204 | 2235 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.24795018C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795018C>T Locations: - p.Thr2235Ile (Ensembl:ENSMUST00000035565) - c.6704C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432254 | 2238 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.24795026G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795026G>A Locations: - p.Ala2238Thr (Ensembl:ENSMUST00000035565) - c.6712G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3406589139 | 2239 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24795029C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795029C>T Locations: - p.Arg2239Trp (Ensembl:ENSMUST00000035565) - c.6715C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3405714451 | 2242 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000083.7:g.24795040G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795040G>T Locations: - p.Gln2242His (Ensembl:ENSMUST00000035565) - c.6726G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407430253 | 2242 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000083.7:g.24795039A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795039A>G Locations: - p.Gln2242Arg (Ensembl:ENSMUST00000035565) - c.6725A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420227 | 2250 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000083.7:g.24795063A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795063A>C Locations: - p.Glu2250Ala (Ensembl:ENSMUST00000035565) - c.6749A>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389354283 | 2286 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24795171A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795171A>T Locations: - p.Asp2286Val (Ensembl:ENSMUST00000035565) - c.6857A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389103 | 2312 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24795443G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795443G>A Locations: - p.Gly2312Glu (Ensembl:ENSMUST00000035565) - c.6935G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443113 | 2317 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24795459T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795459T>G Locations: - p.Ser2317Arg (Ensembl:ENSMUST00000035565) - c.6951T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456143 | 2334 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.24795509T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24795509T>G Locations: - p.Phe2334Cys (Ensembl:ENSMUST00000035565) - c.7001T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389158 | 2358 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000083.7:g.24796512G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796512G>A Locations: - p.Arg2358Gln (Ensembl:ENSMUST00000035565) - c.7073G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420159 | 2362 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24796523G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796523G>A Locations: - p.Val2362Met (Ensembl:ENSMUST00000035565) - c.7084G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433537 | 2367 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24796539T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796539T>A Locations: - p.Val2367Glu (Ensembl:ENSMUST00000035565) - c.7100T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399335 | 2367 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24796538G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796538G>A Locations: - p.Val2367Met (Ensembl:ENSMUST00000035565) - c.7099G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33142571 | 2394 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000083.7:g.24796621A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796621A>T Locations: - p.Arg2394Ser (Ensembl:ENSMUST00000035565) - c.7182A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456173 | 2438 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24796838G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796838G>A Locations: - p.Glu2438Lys (Ensembl:ENSMUST00000035565) - c.7312G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389451030 | 2451 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24796877G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796877G>T Locations: - p.Gly2451Trp (Ensembl:ENSMUST00000035565) - c.7351G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446708 | 2489 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24796992T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24796992T>A Locations: - p.Phe2489Tyr (Ensembl:ENSMUST00000035565) - c.7466T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33228783 | 2507 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000083.7:g.24797112C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797112C>T Locations: - p.Ala2507Val (Ensembl:ENSMUST00000035565) - c.7520C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443131 | 2526 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24797169G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797169G>A Locations: - p.Gly2526Asp (Ensembl:ENSMUST00000035565) - c.7577G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407162864 | 2531 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24797185T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797185T>A Locations: - p.Tyr2531Ter (Ensembl:ENSMUST00000035565) - c.7593T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407554756 | 2536 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24797199C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797199C>A Locations: - p.Pro2536His (Ensembl:ENSMUST00000035565) - c.7607C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434115 | 2546 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000083.7:g.24797230C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797230C>A Locations: - p.Ser2546Arg (Ensembl:ENSMUST00000035565) - c.7638C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420198 | 2547 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24797232T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797232T>G Locations: - p.Leu2547Arg (Ensembl:ENSMUST00000035565) - c.7640T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439324 | 2577 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000083.7:g.24797391C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797391C>A Locations: - p.Pro2577His (Ensembl:ENSMUST00000035565) - c.7730C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs33323633 | 2586 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24797419C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797419C>G Locations: - p.Ser2586Arg (Ensembl:ENSMUST00000035565) - c.7758C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432242 | 2602 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24797466A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797466A>G Locations: - p.Gln2602Arg (Ensembl:ENSMUST00000035565) - c.7805A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs248489710 | 2629 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.73) Somatic: No Accession: NC_000083.7:g.24797818G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797818G>C Locations: - p.Val2629Leu (Ensembl:ENSMUST00000035565) - c.7885G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389140 | 2636 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24797839C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24797839C>T Locations: - p.Gln2636Ter (Ensembl:ENSMUST00000035565) - c.7906C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433576 | 2673 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24798711T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24798711T>A Locations: - p.Leu2673His (Ensembl:ENSMUST00000035565) - c.8018T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456181 | 2680 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000083.7:g.24798732A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24798732A>T Locations: - p.Lys2680Met (Ensembl:ENSMUST00000035565) - c.8039A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389093 | 2689 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24798760G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24798760G>A Locations: - p.Met2689Ile (Ensembl:ENSMUST00000035565) - c.8067G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434076 | 2689 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24798758A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24798758A>T Locations: - p.Met2689Leu (Ensembl:ENSMUST00000035565) - c.8065A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433570 | 2710 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24798822G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24798822G>A Locations: - p.Ser2710Asn (Ensembl:ENSMUST00000035565) - c.8129G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456210 | 2719 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24798937A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24798937A>T Locations: - p.Ile2719Phe (Ensembl:ENSMUST00000035565) - c.8155A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs216395342 | 2732 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.24798978G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24798978G>T Locations: - p.Leu2732Phe (Ensembl:ENSMUST00000035565) - c.8196G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432304 | 2744 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24799012G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799012G>C Locations: - p.Ala2744Pro (Ensembl:ENSMUST00000035565) - c.8230G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs252101022 | 2756 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000083.7:g.24799048C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799048C>T Locations: - p.Arg2756Cys (Ensembl:ENSMUST00000035565) - c.8266C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389089 | 2764 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24799072C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799072C>T Locations: - p.Leu2764Phe (Ensembl:ENSMUST00000035565) - c.8290C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439263 | 2773 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24799099G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799099G>A Locations: - p.Gly2773Ser (Ensembl:ENSMUST00000035565) - c.8317G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409270 | 2796 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24799169G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799169G>A Locations: - p.Gly2796Glu (Ensembl:ENSMUST00000035565) - c.8387G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409295 | 2822 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.24799246T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799246T>A Locations: - p.Phe2822Ile (Ensembl:ENSMUST00000035565) - c.8464T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420218 | 2824 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24799253T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799253T>C Locations: - p.Val2824Ala (Ensembl:ENSMUST00000035565) - c.8471T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389441983 | 2848 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24799324T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799324T>C Locations: - p.Phe2848Leu (Ensembl:ENSMUST00000035565) - c.8542T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439675 | 2854 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000083.7:g.24799343C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799343C>G Locations: - p.Thr2854Ser (Ensembl:ENSMUST00000035565) - c.8561C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456199 | 2859 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.24799357G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799357G>A Locations: - p.Glu2859Lys (Ensembl:ENSMUST00000035565) - c.8575G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs214844177 | 2886 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.24799438G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799438G>C Locations: - p.Val2886Leu (Ensembl:ENSMUST00000035565) - c.8656G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs237311958 | 2895 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24799465A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799465A>G Locations: - p.Thr2895Ala (Ensembl:ENSMUST00000035565) - c.8683A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389451029 | 2902 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000083.7:g.24799486A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799486A>G Locations: - p.Thr2902Ala (Ensembl:ENSMUST00000035565) - c.8704A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439261 | 2929 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.24799868G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799868G>C Locations: - p.Glu2929Asp (Ensembl:ENSMUST00000035565) - c.8787G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433481 | 2945 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.24799915A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799915A>G Locations: - p.Asn2945Ser (Ensembl:ENSMUST00000035565) - c.8834A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446714 | 2953 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24799939G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799939G>T Locations: - p.Arg2953Met (Ensembl:ENSMUST00000035565) - c.8858G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389134 | 2959 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000083.7:g.24799956G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24799956G>A Locations: - p.Val2959Met (Ensembl:ENSMUST00000035565) - c.8875G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434094 | 2979 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24800175T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24800175T>A Locations: - p.Leu2979Met (Ensembl:ENSMUST00000035565) - c.8935T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389116 | 2981 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.24800182G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24800182G>T Locations: - p.Arg2981Met (Ensembl:ENSMUST00000035565) - c.8942G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407665512 | 3045 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24800374C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24800374C>G Locations: - p.Ala3045Gly (Ensembl:ENSMUST00000035565) - c.9134C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443135 | 3060 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.24800538A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24800538A>T Locations: - p.Glu3060Val (Ensembl:ENSMUST00000035565) - c.9179A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432310 | 3088 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24800621C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24800621C>T Locations: - p.Arg3088Cys (Ensembl:ENSMUST00000035565) - c.9262C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443179 | 3095 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24800642G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24800642G>A Locations: - p.Val3095Ile (Ensembl:ENSMUST00000035565) - c.9283G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399307 | 3106 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24800675A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24800675A>G Locations: - p.Lys3106Glu (Ensembl:ENSMUST00000035565) - c.9316A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389163 | 3142 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24804701G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24804701G>T Locations: - p.Gly3142Cys (Ensembl:ENSMUST00000035565) - c.9424G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456192 | 3159 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24804752A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24804752A>C Locations: - p.Ile3159Leu (Ensembl:ENSMUST00000035565) - c.9475A>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409285 | 3177 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24804807G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24804807G>A Locations: - p.Trp3177Ter (Ensembl:ENSMUST00000035565) - c.9530G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442020 | 3202 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.24804957G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24804957G>A Locations: - p.Ser3202Asn (Ensembl:ENSMUST00000035565) - c.9605G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3413011159 | 3222 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24805017T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805017T>C Locations: - p.Val3222Ala (Ensembl:ENSMUST00000035565) - c.9665T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3552815495 | 3233 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000083.7:g.24805147C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805147C>T Locations: - p.Ala3233Val (Ensembl:ENSMUST00000035565) - c.9698C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456128 | 3286 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24805305G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805305G>A Locations: - p.Ala3286Thr (Ensembl:ENSMUST00000035565) - c.9856G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399258 | 3304 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24805446G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805446G>C Locations: - p.Val3304Leu (Ensembl:ENSMUST00000035565) - c.9910G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389441969 | 3310 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24805465C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805465C>A Locations: - p.Pro3310His (Ensembl:ENSMUST00000035565) - c.9929C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389450974 | 3324 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000083.7:g.24805506G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805506G>A Locations: - p.Val3324Ile (Ensembl:ENSMUST00000035565) - c.9970G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439700 | 3333 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24805533C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805533C>A Locations: - p.Leu3333Met (Ensembl:ENSMUST00000035565) - c.9997C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389129 | 3338 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24805548A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805548A>G Locations: - p.Met3338Val (Ensembl:ENSMUST00000035565) - c.10012A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456155 | 3341 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24805558G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24805558G>C Locations: - p.Ser3341Thr (Ensembl:ENSMUST00000035565) - c.10022G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409234 | 3359 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24806202T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806202T>C Locations: - p.Val3359Ala (Ensembl:ENSMUST00000035565) - c.10076T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399268 | 3361 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24806208G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806208G>T Locations: - p.Ser3361Ile (Ensembl:ENSMUST00000035565) - c.10082G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389441977 | 3380 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24806265A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806265A>T Locations: - p.Glu3380Val (Ensembl:ENSMUST00000035565) - c.10139A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432301 | 3393 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24806410G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806410G>T Locations: - p.Glu3393Ter (Ensembl:ENSMUST00000035565) - c.10177G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407418924 | 3404 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000083.7:g.24806644G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806644G>C Locations: - p.Ser3404Thr (Ensembl:ENSMUST00000035565) - c.10211G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3406515894 | 3405 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24806646G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806646G>A Locations: - p.Glu3405Lys (Ensembl:ENSMUST00000035565) - c.10213G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407848143 | 3406 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000083.7:g.24806649G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806649G>A Locations: - p.Gly3406Ser (Ensembl:ENSMUST00000035565) - c.10216G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407348903 | 3409 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24806658A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806658A>G Locations: - p.Ser3409Gly (Ensembl:ENSMUST00000035565) - c.10225A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407418946 | 3409 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24806660T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806660T>A Locations: - p.Ser3409Arg (Ensembl:ENSMUST00000035565) - c.10227T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389450976 | 3411 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24806664C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806664C>T Locations: - p.Pro3411Ser (Ensembl:ENSMUST00000035565) - c.10231C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433487 | 3415 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.24806677G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806677G>A Locations: - p.Ser3415Asn (Ensembl:ENSMUST00000035565) - c.10244G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409288 | 3422 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24806698G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806698G>A Locations: - p.Ser3422Asn (Ensembl:ENSMUST00000035565) - c.10265G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs219840556 | 3453 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000083.7:g.24806791A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24806791A>G Locations: - p.Lys3453Arg (Ensembl:ENSMUST00000035565) - c.10358A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439708 | 3491 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24809795C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24809795C>A Locations: - p.Ser3491Tyr (Ensembl:ENSMUST00000035565) - c.10472C>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs50641431 | 3492 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24809798G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24809798G>C Locations: - p.Ser3492Thr (Ensembl:ENSMUST00000035565) - c.10475G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs107828289 | 3506 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000083.7:g.24809839G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24809839G>A Locations: - p.Val3506Met (Ensembl:ENSMUST00000035565) - c.10516G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs107840595 | 3509 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24809848G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24809848G>A Locations: - p.Glu3509Lys (Ensembl:ENSMUST00000035565) - c.10525G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389439297 | 3512 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.24809858C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24809858C>G Locations: - p.Ala3512Gly (Ensembl:ENSMUST00000035565) - c.10535C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs220122745 | 3517 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: NC_000083.7:g.24809873G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24809873G>C Locations: - p.Ser3517Thr (Ensembl:ENSMUST00000035565) - c.10550G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420138 | 3565 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24810095G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810095G>A Locations: - p.Trp3565Ter (Ensembl:ENSMUST00000035565) - c.10695G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs864298690 | 3565 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24810093T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810093T>C Locations: - p.Trp3565Arg (Ensembl:ENSMUST00000035565) - c.10693T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs864266799 | 3566 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: NC_000083.7:g.24810096A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810096A>G Locations: - p.Ile3566Val (Ensembl:ENSMUST00000035565) - c.10696A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389354218 | 3593 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24810179G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810179G>C Locations: - p.Trp3593Cys (Ensembl:ENSMUST00000035565) - c.10779G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3406589148 | 3594 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24810180G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810180G>T Locations: - p.Glu3594Ter (Ensembl:ENSMUST00000035565) - c.10780G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434140 | 3605 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24810282T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810282T>C Locations: - p.Phe3605Leu (Ensembl:ENSMUST00000035565) - c.10813T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389354264 | 3640 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24810387C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810387C>G Locations: - p.His3640Asp (Ensembl:ENSMUST00000035565) - c.10918C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399298 | 3656 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24810437G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810437G>C Locations: - p.Arg3656Ser (Ensembl:ENSMUST00000035565) - c.10968G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446742 | 3668 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24810829G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810829G>A Locations: - p.Met3668Ile (Ensembl:ENSMUST00000035565) - c.11004G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389443204 | 3670 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24810834T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810834T>C Locations: - p.Phe3670Ser (Ensembl:ENSMUST00000035565) - c.11009T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3553195478 | 3674 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24810846C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810846C>T Locations: - p.Thr3674Met (Ensembl:ENSMUST00000035565) - c.11021C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389399318 | 3692 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000083.7:g.24810901G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24810901G>T Locations: - p.Gln3692His (Ensembl:ENSMUST00000035565) - c.11076G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409245 | 3710 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24811587C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24811587C>G Locations: - p.Ser3710Cys (Ensembl:ENSMUST00000035565) - c.11129C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389451014 | 3722 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24811622T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24811622T>G Locations: - p.Leu3722Val (Ensembl:ENSMUST00000035565) - c.11164T>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456197 | 3725 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.24811631G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24811631G>A Locations: - p.Val3725Ile (Ensembl:ENSMUST00000035565) - c.11173G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456209 | 3728 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24811640A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24811640A>T Locations: - p.Asn3728Tyr (Ensembl:ENSMUST00000035565) - c.11182A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389409215 | 3761 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000083.7:g.24812221C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812221C>T Locations: - p.Ala3761Val (Ensembl:ENSMUST00000035565) - c.11282C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs250306528 | 3795 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.24812451G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812451G>A Locations: - p.Ala3795Thr (Ensembl:ENSMUST00000035565) - c.11383G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446757 | 3812 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.24812502G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812502G>A Locations: - p.Glu3812Lys (Ensembl:ENSMUST00000035565) - c.11434G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442041 | 3832 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24812564G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812564G>A Locations: - p.Trp3832Ter (Ensembl:ENSMUST00000035565) - c.11496G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389451027 | 3833 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.24812565C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812565C>G Locations: - p.Leu3833Val (Ensembl:ENSMUST00000035565) - c.11497C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432247 | 3841 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24812786T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812786T>A Locations: - p.Phe3841Ile (Ensembl:ENSMUST00000035565) - c.11521T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446767 | 3848 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.24812808G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812808G>A Locations: - p.Ser3848Asn (Ensembl:ENSMUST00000035565) - c.11543G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446750 | 3862 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24812849G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812849G>T Locations: - p.Glu3862Ter (Ensembl:ENSMUST00000035565) - c.11584G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389354198 | 3867 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24812865G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812865G>T Locations: - p.Gly3867Val (Ensembl:ENSMUST00000035565) - c.11600G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs224824041 | 3871 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000083.7:g.24812876G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812876G>A Locations: - p.Ala3871Thr (Ensembl:ENSMUST00000035565) - c.11611G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433514 | 3874 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.24812886G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812886G>A Locations: - p.Ser3874Asn (Ensembl:ENSMUST00000035565) - c.11621G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456187 | 3884 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24812916G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24812916G>A Locations: - p.Ser3884Asn (Ensembl:ENSMUST00000035565) - c.11651G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389432312 | 3904 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.24813089T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813089T>C Locations: - p.Phe3904Leu (Ensembl:ENSMUST00000035565) - c.11710T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs236409400 | 3921 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: NC_000083.7:g.24813140G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813140G>A Locations: - p.Ala3921Thr (Ensembl:ENSMUST00000035565) - c.11761G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433578 | 3940 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24813198T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813198T>C Locations: - p.Leu3940Pro (Ensembl:ENSMUST00000035565) - c.11819T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446768 | 3945 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24813212C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813212C>T Locations: - p.Gln3945Ter (Ensembl:ENSMUST00000035565) - c.11833C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389446768 | 3945 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24813212C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813212C>G Locations: - p.Gln3945Glu (Ensembl:ENSMUST00000035565) - c.11833C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389420223 | 3949 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24813224G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813224G>C Locations: - p.Ala3949Pro (Ensembl:ENSMUST00000035565) - c.11845G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs50941934 | 3962 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.24813264G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813264G>A Locations: - p.Arg3962His (Ensembl:ENSMUST00000035565) - c.11885G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433561 | 3977 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.24813309C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813309C>G Locations: - p.Ala3977Gly (Ensembl:ENSMUST00000035565) - c.11930C>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389440369 | 3982 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24813323G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813323G>T Locations: - p.Ala3982Ser (Ensembl:ENSMUST00000035565) - c.11944G>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433573 | 4000 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24813460G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813460G>A Locations: - p.Arg4000His (Ensembl:ENSMUST00000035565) - c.11999G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389433532 | 4008 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24813484C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813484C>T Locations: - p.Thr4008Ile (Ensembl:ENSMUST00000035565) - c.12023C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456158 | 4027 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000083.7:g.24813540G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813540G>C Locations: - p.Gly4027Arg (Ensembl:ENSMUST00000035565) - c.12079G>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389456211 | 4033 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000083.7:g.24813559T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813559T>C Locations: - p.Met4033Thr (Ensembl:ENSMUST00000035565) - c.12098T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389440378 | 4041 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000083.7:g.24813659G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813659G>A Locations: - p.Gly4041Asp (Ensembl:ENSMUST00000035565) - c.12122G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389401985 | 4064 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.24813728T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813728T>A Locations: - p.Leu4064Gln (Ensembl:ENSMUST00000035565) - c.12191T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3407164284 | 4112 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.24813872_24813873insA Codon: TGG/TGAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813872_24813873insA Locations: - p.Trp4112Ter (Ensembl:ENSMUST00000035565) - c.12335_12336insA (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389354253 | 4136 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24813944T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813944T>A Locations: - p.Val4136Asp (Ensembl:ENSMUST00000035565) - c.12407T>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442004 | 4138 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.24813949G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24813949G>A Locations: - p.Glu4138Lys (Ensembl:ENSMUST00000035565) - c.12412G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389440317 | 4177 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000083.7:g.24814161C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24814161C>T Locations: - p.Pro4177Leu (Ensembl:ENSMUST00000035565) - c.12530C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389389112 | 4192 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.24814205A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24814205A>T Locations: - p.Ser4192Cys (Ensembl:ENSMUST00000035565) - c.12574A>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs13468401 | 4237 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000083.7:g.24814341A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24814341A>G Locations: - p.Gln4237Arg (Ensembl:ENSMUST00000035565) - c.12710A>G (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442019 | 4250 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.24814380C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24814380C>T Locations: - p.Pro4250Leu (Ensembl:ENSMUST00000035565) - c.12749C>T (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389434124 | 4263 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000083.7:g.24814419G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24814419G>A Locations: - p.Arg4263His (Ensembl:ENSMUST00000035565) - c.12788G>A (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: | |||||||
rs3389442011 | 4283 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000083.7:g.24814478T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.24814478T>C Locations: - p.Trp4283Arg (Ensembl:ENSMUST00000035565) - c.12847T>C (Ensembl:ENSMUST00000035565) Source type: large scale study Cross-references: |