D3Z4J3 · D3Z4J3_MOUSE
- ProteinMyosin VA
- GeneMyo5a
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1855 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3400398719 | 5 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000075.7:g.74978929G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.74978929G>C Locations: - p.Glu5Asp (Ensembl:ENSMUST00000155282) - c.15G>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3400590765 | 6 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.74978931T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.74978931T>C Locations: - p.Leu6Pro (Ensembl:ENSMUST00000155282) - c.17T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389056291 | 54 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.75027977C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75027977C>T Locations: - p.Pro54Leu (Ensembl:ENSMUST00000155282) - c.161C>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389052952 | 57 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75027985G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75027985G>T Locations: - p.Gly57Cys (Ensembl:ENSMUST00000155282) - c.169G>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389058128 | 68 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75028018C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75028018C>T Locations: - p.Leu68Phe (Ensembl:ENSMUST00000155282) - c.202C>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389062330 | 79 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75028052A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75028052A>G Locations: - p.Tyr79Cys (Ensembl:ENSMUST00000155282) - c.236A>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389059015 | 124 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75030252A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75030252A>T Locations: - p.Ile124Phe (Ensembl:ENSMUST00000155282) - c.370A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389051285 | 193 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75037375G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75037375G>A Locations: - p.Glu193Lys (Ensembl:ENSMUST00000155282) - c.577G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066326 | 194 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.75037380A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75037380A>T Locations: - p.Glu194Asp (Ensembl:ENSMUST00000155282) - c.582A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066372 | 204 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75037410G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75037410G>T Locations: - p.Glu204Asp (Ensembl:ENSMUST00000155282) - c.612G>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389025279 | 211 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75043643A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75043643A>C Locations: - p.Thr211Pro (Ensembl:ENSMUST00000155282) - c.631A>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389038624 | 215 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75043657T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75043657T>A Locations: - p.Asp215Glu (Ensembl:ENSMUST00000155282) - c.645T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389045626 | 216 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75043660T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75043660T>A Locations: - p.Asn216Lys (Ensembl:ENSMUST00000155282) - c.648T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066954 | 217 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75043662G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75043662G>A Locations: - p.Ser217Asn (Ensembl:ENSMUST00000155282) - c.650G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389058164 | 242 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.75043738C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.75043738C>G Locations: - p.Tyr242Ter (Ensembl:ENSMUST00000155282) - c.726C>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066328 | 266 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75047970G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75047970G>A Locations: - p.Cys266Tyr (Ensembl:ENSMUST00000155282) - c.797G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389003502 | 296 | I>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75048765T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75048765T>A Locations: - p.Ile296Lys (Ensembl:ENSMUST00000155282) - c.887T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389038640 | 326 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75051385T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75051385T>C Locations: - p.Phe326Ser (Ensembl:ENSMUST00000155282) - c.977T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066342 | 349 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000075.7:g.75051453A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75051453A>G Locations: - p.Thr349Ala (Ensembl:ENSMUST00000155282) - c.1045A>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389038569 | 354 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75054154A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054154A>T Locations: - p.His354Leu (Ensembl:ENSMUST00000155282) - c.1061A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066398 | 365 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75054187G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054187G>A Locations: - p.Gly365Asp (Ensembl:ENSMUST00000155282) - c.1094G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389061176 | 367 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.75054193A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054193A>G Locations: - p.Asp367Gly (Ensembl:ENSMUST00000155282) - c.1100A>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389045617 | 387 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000075.7:g.75054253A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054253A>T Locations: - p.Tyr387Phe (Ensembl:ENSMUST00000155282) - c.1160A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389058962 | 387 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75054252T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054252T>A Locations: - p.Tyr387Asn (Ensembl:ENSMUST00000155282) - c.1159T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389034760 | 402 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75054298C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054298C>T Locations: - p.Ala402Val (Ensembl:ENSMUST00000155282) - c.1205C>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3400592085 | 425 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000075.7:g.75054366T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054366T>G Locations: - p.Ser425Ala (Ensembl:ENSMUST00000155282) - c.1273T>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389051236 | 430 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75054383C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75054383C>A Locations: - p.His430Gln (Ensembl:ENSMUST00000155282) - c.1290C>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389045624 | 452 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75055172T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75055172T>A Locations: - p.Phe452Ile (Ensembl:ENSMUST00000155282) - c.1354T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389052951 | 486 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75059230T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75059230T>G Locations: - p.Leu486Arg (Ensembl:ENSMUST00000155282) - c.1457T>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389062310 | 517 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75061044A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75061044A>G Locations: - p.Lys517Glu (Ensembl:ENSMUST00000155282) - c.1549A>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389056496 | 522 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75061060C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75061060C>A Locations: - p.Thr522Lys (Ensembl:ENSMUST00000155282) - c.1565C>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389059026 | 525 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75061069A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75061069A>C Locations: - p.Gln525Pro (Ensembl:ENSMUST00000155282) - c.1574A>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389059008 | 545 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75061128A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75061128A>G Locations: - p.Asn545Asp (Ensembl:ENSMUST00000155282) - c.1633A>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389051313 | 624 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.75067818C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75067818C>A Locations: - p.Pro624His (Ensembl:ENSMUST00000155282) - c.1871C>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389058130 | 635 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75067850G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75067850G>T Locations: - p.Val635Leu (Ensembl:ENSMUST00000155282) - c.1903G>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389038633 | 636 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.75067853G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.75067853G>T Locations: - p.Gly636Ter (Ensembl:ENSMUST00000155282) - c.1906G>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389003466 | 642 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75068724C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75068724C>T Locations: - p.Ser642Phe (Ensembl:ENSMUST00000155282) - c.1925C>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389045612 | 703 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.75071587C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.75071587C>G Locations: - p.Tyr703Ter (Ensembl:ENSMUST00000155282) - c.2109C>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389051254 | 726 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75071655C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75071655C>T Locations: - p.Thr726Met (Ensembl:ENSMUST00000155282) - c.2177C>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066930 | 727 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75071657T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75071657T>A Locations: - p.Cys727Ser (Ensembl:ENSMUST00000155282) - c.2179T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389062296 | 749 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75074337T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75074337T>C Locations: - p.Phe749Leu (Ensembl:ENSMUST00000155282) - c.2245T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389025305 | 761 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75074374T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75074374T>C Locations: - p.Leu761Ser (Ensembl:ENSMUST00000155282) - c.2282T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066368 | 771 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75074404T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75074404T>C Locations: - p.Ile771Thr (Ensembl:ENSMUST00000155282) - c.2312T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389038574 | 794 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000075.7:g.75074473T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75074473T>C Locations: - p.Ile794Thr (Ensembl:ENSMUST00000155282) - c.2381T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs32943601 | 831 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000075.7:g.75076278G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75076278G>A Locations: - p.Arg831His (Ensembl:ENSMUST00000155282) - c.2492G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066940 | 835 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.75076289A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.75076289A>T Locations: - p.Lys835Ter (Ensembl:ENSMUST00000155282) - c.2503A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs32943603 | 837 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000075.7:g.75076296G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75076296G>A Locations: - p.Arg837Lys (Ensembl:ENSMUST00000155282) - c.2510G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066352 | 840 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.75076305C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75076305C>G Locations: - p.Ala840Gly (Ensembl:ENSMUST00000155282) - c.2519C>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389052902 | 849 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.75076331A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.75076331A>T Locations: - p.Arg849Ter (Ensembl:ENSMUST00000155282) - c.2545A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs32945517 | 864 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.75078833T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75078833T>C Locations: - p.Tyr864His (Ensembl:ENSMUST00000155282) - c.2590T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs223730650 | 1050 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000075.7:g.75083882A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75083882A>G Locations: - p.Lys1050Arg (Ensembl:ENSMUST00000155282) - c.3149A>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389062340 | 1115 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75089215C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75089215C>A Locations: - p.Ser1115Tyr (Ensembl:ENSMUST00000155282) - c.3344C>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066949 | 1139 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75089287G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75089287G>T Locations: - p.Arg1139Ile (Ensembl:ENSMUST00000155282) - c.3416G>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs32949227 | 1261 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75093336G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75093336G>A Locations: - p.Val1261Met (Ensembl:ENSMUST00000155282) - c.3781G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389045661 | 1291 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75097194G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75097194G>A Locations: - p.Asp1291Asn (Ensembl:ENSMUST00000155282) - c.3871G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389059040 | 1291 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.75097195A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75097195A>T Locations: - p.Asp1291Val (Ensembl:ENSMUST00000155282) - c.3872A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389061154 | 1322 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.75099670T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75099670T>C Locations: - p.Ser1322Pro (Ensembl:ENSMUST00000155282) - c.3964T>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066928 | 1341 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75099728G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75099728G>T Locations: - p.Gly1341Val (Ensembl:ENSMUST00000155282) - c.4022G>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389038593 | 1345 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.75099739G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75099739G>A Locations: - p.Ala1345Thr (Ensembl:ENSMUST00000155282) - c.4033G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389058100 | 1348 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75101222C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75101222C>T Locations: - p.Leu1348Phe (Ensembl:ENSMUST00000155282) - c.4042C>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3400427643 | 1390 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75101349A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75101349A>T Locations: - p.Gln1390Leu (Ensembl:ENSMUST00000155282) - c.4169A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3400485867 | 1392 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75101355C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75101355C>T Locations: - p.Pro1392Leu (Ensembl:ENSMUST00000155282) - c.4175C>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389045632 | 1429 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75104970C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75104970C>G Locations: - p.Leu1429Val (Ensembl:ENSMUST00000155282) - c.4285C>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3400399455 | 1494 | E>D* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.75110990_75110991insTTG Codon: GAA/GATTGA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.75110990_75110991insTTG Locations: - p.Glu1494delinsAspTer (Ensembl:ENSMUST00000155282) - c.4481_4482insTTG (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389038612 | 1514 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75111050T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75111050T>A Locations: - p.Phe1514Tyr (Ensembl:ENSMUST00000155282) - c.4541T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389066354 | 1589 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75118341C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75118341C>G Locations: - p.Cys1589Trp (Ensembl:ENSMUST00000155282) - c.4767C>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3400266896 | 1599 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000075.7:g.75118370G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75118370G>A Locations: - p.Arg1599Gln (Ensembl:ENSMUST00000155282) - c.4796G>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389059003 | 1601 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75118376T>A Codon: GTA/GAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75118376T>A Locations: - p.Val1601Glu (Ensembl:ENSMUST00000155282) - c.4802T>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389056277 | 1604 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75118384G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75118384G>C Locations: - p.Asp1604His (Ensembl:ENSMUST00000155282) - c.4810G>C (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389056541 | 1610 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75118402T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75118402T>G Locations: - p.Tyr1610Asp (Ensembl:ENSMUST00000155282) - c.4828T>G (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3389025277 | 1693 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.75120276C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75120276C>A Locations: - p.Phe1693Leu (Ensembl:ENSMUST00000155282) - c.5079C>A (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3400485885 | 1816 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.75125152_75125153insTGAG Codon: -/TGAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.75125152_75125153insTGAG Locations: - p.Gln1816Ter (Ensembl:ENSMUST00000155282) - c.5445_5446insTGAG (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: | |||||||
rs3399816555 | 1828 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.75125189A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.75125189A>T Locations: - p.Thr1828Ser (Ensembl:ENSMUST00000155282) - c.5482A>T (Ensembl:ENSMUST00000155282) Source type: large scale study Cross-references: |