A0A087WNU5 · A0A087WNU5_MOUSE
- ProteinAnkyrin 3, epithelial
- GeneAnk3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids2871 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3411747115 | 147 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69816183G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69816183G>C Locations: - p.Ala147Pro (Ensembl:ENSMUST00000186247) - c.439G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071826 | 189 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69818003A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69818003A>T Locations: - p.Ser189Cys (Ensembl:ENSMUST00000186247) - c.565A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs1134664152 | 198 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69821923A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69821923A>T Locations: - p.Glu198Asp (Ensembl:ENSMUST00000186247) - c.594A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109722 | 205 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69821944A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69821944A>T Locations: - p.Arg205Ser (Ensembl:ENSMUST00000186247) - c.615A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389113918 | 279 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822164A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822164A>G Locations: - p.Lys279Glu (Ensembl:ENSMUST00000186247) - c.835A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109733 | 284 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822179G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822179G>A Locations: - p.Val284Met (Ensembl:ENSMUST00000186247) - c.850G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3413063857 | 285 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822182G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822182G>A Locations: - p.Ala285Thr (Ensembl:ENSMUST00000186247) - c.853G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104597 | 297 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822218C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822218C>A Locations: - p.Pro297Thr (Ensembl:ENSMUST00000186247) - c.889C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048137 | 322 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.69822293A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822293A>G Locations: - p.Ile322Val (Ensembl:ENSMUST00000186247) - c.964A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389101809 | 329 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822315A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822315A>G Locations: - p.Lys329Arg (Ensembl:ENSMUST00000186247) - c.986A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071836 | 342 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822353T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822353T>C Locations: - p.Ser342Pro (Ensembl:ENSMUST00000186247) - c.1024T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3412932104 | 351 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822382G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822382G>T Locations: - p.Leu351Phe (Ensembl:ENSMUST00000186247) - c.1053G>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104617 | 366 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.69822426C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822426C>A Locations: - p.Ser366Ter (Ensembl:ENSMUST00000186247) - c.1097C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3400145875 | 414 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822569G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822569G>C Locations: - p.Ala414Pro (Ensembl:ENSMUST00000186247) - c.1240G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092610 | 454 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.69822689G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822689G>A Locations: - p.Ala454Thr (Ensembl:ENSMUST00000186247) - c.1360G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105990 | 458 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822702T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822702T>C Locations: - p.Leu458Ser (Ensembl:ENSMUST00000186247) - c.1373T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079679 | 460 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000076.7:g.69822708A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822708A>G Locations: - p.Asp460Gly (Ensembl:ENSMUST00000186247) - c.1379A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104754 | 467 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822729A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822729A>T Locations: - p.Asn467Ile (Ensembl:ENSMUST00000186247) - c.1400A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs234149683 | 487 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69822789C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822789C>T Locations: - p.Thr487Met (Ensembl:ENSMUST00000186247) - c.1460C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092554 | 525 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000076.7:g.69822902A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822902A>G Locations: - p.Ile525Val (Ensembl:ENSMUST00000186247) - c.1573A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389107655 | 527 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000076.7:g.69822909C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69822909C>T Locations: - p.Ala527Val (Ensembl:ENSMUST00000186247) - c.1580C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105953 | 571 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823041C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823041C>T Locations: - p.Ser571Leu (Ensembl:ENSMUST00000186247) - c.1712C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048189 | 603 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823137C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823137C>T Locations: - p.Ala603Val (Ensembl:ENSMUST00000186247) - c.1808C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389107731 | 646 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823265T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823265T>C Locations: - p.Phe646Leu (Ensembl:ENSMUST00000186247) - c.1936T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079669 | 730 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823517G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823517G>A Locations: - p.Glu730Lys (Ensembl:ENSMUST00000186247) - c.2188G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs50901462 | 750 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69823578G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823578G>C Locations: - p.Gly750Ala (Ensembl:ENSMUST00000186247) - c.2249G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079674 | 775 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823653T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823653T>C Locations: - p.Ile775Thr (Ensembl:ENSMUST00000186247) - c.2324T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092535 | 776 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823657A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823657A>T Locations: - p.Leu776Phe (Ensembl:ENSMUST00000186247) - c.2328A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389083082 | 795 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823713G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823713G>T Locations: - p.Arg795Met (Ensembl:ENSMUST00000186247) - c.2384G>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389113872 | 811 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823760T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823760T>C Locations: - p.Phe811Leu (Ensembl:ENSMUST00000186247) - c.2431T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071814 | 829 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823815A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823815A>C Locations: - p.Asp829Ala (Ensembl:ENSMUST00000186247) - c.2486A>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105948 | 835 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823832G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823832G>A Locations: - p.Asp835Asn (Ensembl:ENSMUST00000186247) - c.2503G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389101808 | 839 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823846A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823846A>T Locations: - p.Glu839Asp (Ensembl:ENSMUST00000186247) - c.2517A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389101812 | 853 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823888G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823888G>T Locations: - p.Glu853Asp (Ensembl:ENSMUST00000186247) - c.2559G>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389098292 | 887 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69823988T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69823988T>G Locations: - p.Ser887Ala (Ensembl:ENSMUST00000186247) - c.2659T>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105969 | 895 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69824013A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69824013A>G Locations: - p.Gln895Arg (Ensembl:ENSMUST00000186247) - c.2684A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092580 | 901 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69824031C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69824031C>T Locations: - p.Ser901Phe (Ensembl:ENSMUST00000186247) - c.2702C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389116257 | 920 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69824088T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69824088T>A Locations: - p.Ile920Asn (Ensembl:ENSMUST00000186247) - c.2759T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3401189528 | 965 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69824223C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69824223C>A Locations: - p.Pro965His (Ensembl:ENSMUST00000186247) - c.2894C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104647 | 1008 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69824351A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69824351A>T Locations: - p.Met1008Leu (Ensembl:ENSMUST00000186247) - c.3022A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104590 | 1045 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69824462G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69824462G>A Locations: - p.Gly1045Ser (Ensembl:ENSMUST00000186247) - c.3133G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3401387414 | 1094 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.69824609C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69824609C>T Locations: - p.Pro1094Ser (Ensembl:ENSMUST00000186247) - c.3280C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389113882 | 1239 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825044T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825044T>A Locations: - p.Ser1239Thr (Ensembl:ENSMUST00000186247) - c.3715T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104623 | 1244 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825060T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825060T>G Locations: - p.Phe1244Cys (Ensembl:ENSMUST00000186247) - c.3731T>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105907 | 1261 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825110C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825110C>A Locations: - p.His1261Asn (Ensembl:ENSMUST00000186247) - c.3781C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389116247 | 1320 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825288A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825288A>G Locations: - p.Lys1320Arg (Ensembl:ENSMUST00000186247) - c.3959A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs247273821 | 1323 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825297C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825297C>A Locations: - p.Pro1323His (Ensembl:ENSMUST00000186247) - c.3968C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104557 | 1343 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825357T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825357T>C Locations: - p.Leu1343Ser (Ensembl:ENSMUST00000186247) - c.4028T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048191 | 1352 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000076.7:g.69825383G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825383G>A Locations: - p.Glu1352Lys (Ensembl:ENSMUST00000186247) - c.4054G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs49330849 | 1383 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.69825478C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825478C>G Locations: - p.Asn1383Lys (Ensembl:ENSMUST00000186247) - c.4149C>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs240705038 | 1390 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69825498G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825498G>A Locations: - p.Ser1390Asn (Ensembl:ENSMUST00000186247) - c.4169G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs1134603222 | 1390 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69825499C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825499C>A Locations: - p.Ser1390Arg (Ensembl:ENSMUST00000186247) - c.4170C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs256893376 | 1393 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000076.7:g.69825507A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825507A>G Locations: - p.Asp1393Gly (Ensembl:ENSMUST00000186247) - c.4178A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105047 | 1415 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825573C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825573C>A Locations: - p.Ser1415Tyr (Ensembl:ENSMUST00000186247) - c.4244C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079702 | 1420 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825588A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825588A>T Locations: - p.Lys1420Ile (Ensembl:ENSMUST00000186247) - c.4259A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389101826 | 1428 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825611A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825611A>G Locations: - p.Arg1428Gly (Ensembl:ENSMUST00000186247) - c.4282A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389098284 | 1435 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000076.7:g.69825633C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825633C>T Locations: - p.Ala1435Val (Ensembl:ENSMUST00000186247) - c.4304C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079699 | 1439 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000076.7:g.69825645G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825645G>A Locations: - p.Ser1439Asn (Ensembl:ENSMUST00000186247) - c.4316G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs229629480 | 1452 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825683C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825683C>T Locations: - p.Pro1452Ser (Ensembl:ENSMUST00000186247) - c.4354C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389116296 | 1472 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69825744C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825744C>T Locations: - p.Ala1472Val (Ensembl:ENSMUST00000186247) - c.4415C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs49462114 | 1487 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000076.7:g.69825788G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825788G>A Locations: - p.Val1487Met (Ensembl:ENSMUST00000186247) - c.4459G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104594 | 1489 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000076.7:g.69825795T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825795T>A Locations: - p.Val1489Glu (Ensembl:ENSMUST00000186247) - c.4466T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071831 | 1495 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000076.7:g.69825813T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825813T>C Locations: - p.Val1495Ala (Ensembl:ENSMUST00000186247) - c.4484T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs224499861 | 1514 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000076.7:g.69825869G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825869G>A Locations: - p.Gly1514Ser (Ensembl:ENSMUST00000186247) - c.4540G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109718 | 1516 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69825876G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825876G>A Locations: - p.Gly1516Asp (Ensembl:ENSMUST00000186247) - c.4547G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3400691058 | 1526 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69825905A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825905A>G Locations: - p.Lys1526Glu (Ensembl:ENSMUST00000186247) - c.4576A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389107672 | 1538 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69825941G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69825941G>C Locations: - p.Glu1538Gln (Ensembl:ENSMUST00000186247) - c.4612G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104836 | 1564 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826021T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826021T>A Locations: - p.Ser1564Arg (Ensembl:ENSMUST00000186247) - c.4692T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079723 | 1580 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69826067G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826067G>A Locations: - p.Val1580Met (Ensembl:ENSMUST00000186247) - c.4738G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048195 | 1582 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826073G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826073G>C Locations: - p.Val1582Leu (Ensembl:ENSMUST00000186247) - c.4744G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109721 | 1611 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000076.7:g.69826162A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826162A>T Locations: - p.Arg1611Ser (Ensembl:ENSMUST00000186247) - c.4833A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092532 | 1613 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826166C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826166C>G Locations: - p.His1613Asp (Ensembl:ENSMUST00000186247) - c.4837C>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092561 | 1630 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826219A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826219A>T Locations: - p.Lys1630Asn (Ensembl:ENSMUST00000186247) - c.4890A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104603 | 1699 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000076.7:g.69826424T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826424T>C Locations: - p.Ser1699Pro (Ensembl:ENSMUST00000186247) - c.5095T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389101796 | 1704 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826439C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826439C>T Locations: - p.Arg1704Trp (Ensembl:ENSMUST00000186247) - c.5110C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109713 | 1736 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826535C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826535C>T Locations: - p.His1736Tyr (Ensembl:ENSMUST00000186247) - c.5206C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389101788 | 1767 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.69826630T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826630T>A Locations: - p.Ser1767Arg (Ensembl:ENSMUST00000186247) - c.5301T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3401189487 | 1782 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826674A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826674A>G Locations: - p.Glu1782Gly (Ensembl:ENSMUST00000186247) - c.5345A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389113829 | 1798 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826722A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826722A>T Locations: - p.Gln1798Leu (Ensembl:ENSMUST00000186247) - c.5393A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092618 | 1825 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826804A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826804A>T Locations: - p.Glu1825Asp (Ensembl:ENSMUST00000186247) - c.5475A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048135 | 1837 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826839A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826839A>T Locations: - p.Lys1837Met (Ensembl:ENSMUST00000186247) - c.5510A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048135 | 1837 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826839A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826839A>G Locations: - p.Lys1837Arg (Ensembl:ENSMUST00000186247) - c.5510A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389083069 | 1842 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826853C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826853C>T Locations: - p.Pro1842Ser (Ensembl:ENSMUST00000186247) - c.5524C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104559 | 1845 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826864T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826864T>A Locations: - p.Ser1845Arg (Ensembl:ENSMUST00000186247) - c.5535T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389083091 | 1852 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826884A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826884A>T Locations: - p.Glu1852Val (Ensembl:ENSMUST00000186247) - c.5555A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079704 | 1879 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826965T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826965T>A Locations: - p.Phe1879Tyr (Ensembl:ENSMUST00000186247) - c.5636T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071851 | 1883 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69826976A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69826976A>G Locations: - p.Thr1883Ala (Ensembl:ENSMUST00000186247) - c.5647A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104640 | 1930 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827117A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827117A>G Locations: - p.Lys1930Glu (Ensembl:ENSMUST00000186247) - c.5788A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105935 | 1941 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827150G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827150G>T Locations: - p.Val1941Phe (Ensembl:ENSMUST00000186247) - c.5821G>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104792 | 1948 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827172C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827172C>G Locations: - p.Pro1948Arg (Ensembl:ENSMUST00000186247) - c.5843C>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079721 | 2009 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827355C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827355C>A Locations: - p.Ser2009Tyr (Ensembl:ENSMUST00000186247) - c.6026C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3401355019 | 2024 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827400A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827400A>G Locations: - p.Tyr2024Cys (Ensembl:ENSMUST00000186247) - c.6071A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3401355002 | 2025 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827402A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827402A>C Locations: - p.Thr2025Pro (Ensembl:ENSMUST00000186247) - c.6073A>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3401294871 | 2027 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827410G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827410G>C Locations: - p.Lys2027Asn (Ensembl:ENSMUST00000186247) - c.6081G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079715 | 2030 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000076.7:g.69827419A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827419A>T Locations: - p.Glu2030Asp (Ensembl:ENSMUST00000186247) - c.6090A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389083061 | 2030 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827417G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827417G>A Locations: - p.Glu2030Lys (Ensembl:ENSMUST00000186247) - c.6088G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104758 | 2037 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827439A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827439A>T Locations: - p.Asp2037Val (Ensembl:ENSMUST00000186247) - c.6110A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs220143578 | 2045 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000076.7:g.69827462G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827462G>A Locations: - p.Ala2045Thr (Ensembl:ENSMUST00000186247) - c.6133G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109755 | 2074 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827551A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827551A>T Locations: - p.Gln2074His (Ensembl:ENSMUST00000186247) - c.6222A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092539 | 2097 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827619C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827619C>A Locations: - p.Thr2097Lys (Ensembl:ENSMUST00000186247) - c.6290C>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109766 | 2103 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827638C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827638C>G Locations: - p.Asp2103Glu (Ensembl:ENSMUST00000186247) - c.6309C>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104813 | 2110 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827658T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827658T>C Locations: - p.Leu2110Pro (Ensembl:ENSMUST00000186247) - c.6329T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104813 | 2110 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827658T>A Codon: CTA/CAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827658T>A Locations: - p.Leu2110Gln (Ensembl:ENSMUST00000186247) - c.6329T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs46875074 | 2173 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.69827847C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827847C>T Locations: - p.Ser2173Phe (Ensembl:ENSMUST00000186247) - c.6518C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048174 | 2174 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69827851A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827851A>C Locations: - p.Lys2174Asn (Ensembl:ENSMUST00000186247) - c.6522A>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389107654 | 2213 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.69827968C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.69827968C>G Locations: - p.Tyr2213Ter (Ensembl:ENSMUST00000186247) - c.6639C>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092599 | 2280 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828167A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828167A>G Locations: - p.Thr2280Ala (Ensembl:ENSMUST00000186247) - c.6838A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092590 | 2287 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828189G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828189G>A Locations: - p.Ser2287Asn (Ensembl:ENSMUST00000186247) - c.6860G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389109678 | 2327 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.69828308G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828308G>T Locations: - p.Glu2327Ter (Ensembl:ENSMUST00000186247) - c.6979G>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048127 | 2379 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828465G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828465G>A Locations: - p.Gly2379Glu (Ensembl:ENSMUST00000186247) - c.7136G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092530 | 2385 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828483C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828483C>T Locations: - p.Thr2385Ile (Ensembl:ENSMUST00000186247) - c.7154C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs239954922 | 2397 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000076.7:g.69828518G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828518G>A Locations: - p.Ala2397Thr (Ensembl:ENSMUST00000186247) - c.7189G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389107646 | 2402 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.69828533A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828533A>T Locations: - p.Lys2402Ter (Ensembl:ENSMUST00000186247) - c.7204A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048179 | 2412 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828564A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828564A>T Locations: - p.Lys2412Ile (Ensembl:ENSMUST00000186247) - c.7235A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104766 | 2429 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.69828614G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828614G>T Locations: - p.Glu2429Ter (Ensembl:ENSMUST00000186247) - c.7285G>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048186 | 2429 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828615A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828615A>G Locations: - p.Glu2429Gly (Ensembl:ENSMUST00000186247) - c.7286A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs262727074 | 2456 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000076.7:g.69828695C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828695C>T Locations: - p.Pro2456Ser (Ensembl:ENSMUST00000186247) - c.7366C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389105078 | 2460 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000076.7:g.69828707G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828707G>A Locations: - p.Val2460Met (Ensembl:ENSMUST00000186247) - c.7378G>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071889 | 2471 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000076.7:g.69828741A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828741A>G Locations: - p.Gln2471Arg (Ensembl:ENSMUST00000186247) - c.7412A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104808 | 2490 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000076.7:g.69828798A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828798A>G Locations: - p.Asn2490Ser (Ensembl:ENSMUST00000186247) - c.7469A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs216127516 | 2492 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000076.7:g.69828804C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828804C>T Locations: - p.Thr2492Ile (Ensembl:ENSMUST00000186247) - c.7475C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104616 | 2506 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.74) Somatic: No Accession: NC_000076.7:g.69828846C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828846C>G Locations: - p.Thr2506Ser (Ensembl:ENSMUST00000186247) - c.7517C>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389079681 | 2521 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000076.7:g.69828891G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828891G>C Locations: - p.Gly2521Ala (Ensembl:ENSMUST00000186247) - c.7562G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389104816 | 2530 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000076.7:g.69828917T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828917T>A Locations: - p.Ser2530Thr (Ensembl:ENSMUST00000186247) - c.7588T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389048214 | 2531 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828920C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828920C>T Locations: - p.Arg2531Trp (Ensembl:ENSMUST00000186247) - c.7591C>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389083034 | 2546 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69828966A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828966A>G Locations: - p.Lys2546Arg (Ensembl:ENSMUST00000186247) - c.7637A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs220314249 | 2554 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.69828990T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69828990T>A Locations: - p.Phe2554Tyr (Ensembl:ENSMUST00000186247) - c.7661T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389113871 | 2570 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000076.7:g.69829038T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69829038T>A Locations: - p.Val2570Asp (Ensembl:ENSMUST00000186247) - c.7709T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071845 | 2620 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000076.7:g.69829188A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69829188A>G Locations: - p.Lys2620Arg (Ensembl:ENSMUST00000186247) - c.7859A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs585961240 | 2645 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000076.7:g.69829262T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69829262T>G Locations: - p.Ser2645Ala (Ensembl:ENSMUST00000186247) - c.7933T>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs585961240 | 2645 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.69829262T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69829262T>A Locations: - p.Ser2645Thr (Ensembl:ENSMUST00000186247) - c.7933T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389106390 | 2689 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.69829395T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69829395T>C Locations: - p.Val2689Ala (Ensembl:ENSMUST00000186247) - c.8066T>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389092621 | 2693 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.69829406A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69829406A>T Locations: - p.Thr2693Ser (Ensembl:ENSMUST00000186247) - c.8077A>T (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389098237 | 2761 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69830220A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69830220A>G Locations: - p.Glu2761Gly (Ensembl:ENSMUST00000186247) - c.8282A>G (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389113908 | 2797 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69833976T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69833976T>A Locations: - p.Val2797Glu (Ensembl:ENSMUST00000186247) - c.8390T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389101836 | 2849 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69835261T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69835261T>A Locations: - p.Asp2849Glu (Ensembl:ENSMUST00000186247) - c.8547T>A (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: | |||||||
rs3389071854 | 2861 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69835295G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69835295G>C Locations: - p.Asp2861His (Ensembl:ENSMUST00000186247) - c.8581G>C (Ensembl:ENSMUST00000186247) Source type: large scale study Cross-references: |