G3X6E2 · CMI2A_BOVIN
- ProteinCiliary microtubule inner protein 2A
- GeneCIMIP2A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids320 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs432964404 | 2 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_037338.1:g.106260848T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260848T>C Locations: - p.Thr2Ala (Ensembl:ENSBTAT00000005347) - c.4A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs451594473 | 2 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106260847G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260847G>C Locations: - p.Thr2Arg (Ensembl:ENSBTAT00000005347) - c.5C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs443534966 | 5 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037338.1:g.106260838T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260838T>G Locations: - p.Gln5Pro (Ensembl:ENSBTAT00000005347) - c.14A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs461749556 | 6 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_037338.1:g.106260836T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260836T>C Locations: - p.Lys6Glu (Ensembl:ENSBTAT00000005347) - c.16A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs473848476 | 6 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037338.1:g.106260834C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260834C>G Locations: - p.Lys6Asn (Ensembl:ENSBTAT00000005347) - c.18G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs440840278 | 7 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_037338.1:g.106260833G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260833G>T Locations: - p.His7Asn (Ensembl:ENSBTAT00000005347) - c.19C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs459289481 | 9 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106260826A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260826A>G Locations: - p.Leu9Pro (Ensembl:ENSBTAT00000005347) - c.26T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs446224764 | 11 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_037338.1:g.106260821A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260821A>G Locations: - p.Ser11Pro (Ensembl:ENSBTAT00000005347) - c.31T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs450339887 | 14 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106260812G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260812G>T Locations: - p.Pro14Thr (Ensembl:ENSBTAT00000005347) - c.40C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs435591353 | 15 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037338.1:g.106260809G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260809G>C Locations: - p.His15Asp (Ensembl:ENSBTAT00000005347) - c.43C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs447749168 | 16 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037338.1:g.106260806A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260806A>G Locations: - p.Tyr16His (Ensembl:ENSBTAT00000005347) - c.46T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs466291815 | 18 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106260800G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260800G>T Locations: - p.Pro18Thr (Ensembl:ENSBTAT00000005347) - c.52C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs451506522 | 19 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106260796C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106260796C>A Locations: - p.Gly19Val (Ensembl:ENSBTAT00000005347) - c.56G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs436716089 | 22 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259196C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259196C>G Locations: - p.Gly22Arg (Ensembl:ENSBTAT00000005347) - c.64G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs473255305 | 24 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037338.1:g.106259188G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037338.1:g.106259188G>T Locations: - p.Tyr24Ter (Ensembl:ENSBTAT00000005347) - c.72C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs440419909 | 25 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259187G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259187G>A Locations: - p.Pro25Ser (Ensembl:ENSBTAT00000005347) - c.73C>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs452501531 | 26 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037338.1:g.106259184G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037338.1:g.106259184G>A Locations: - p.Gln26Ter (Ensembl:ENSBTAT00000005347) - c.76C>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs470739958 | 26 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259182C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259182C>A Locations: - p.Gln26His (Ensembl:ENSBTAT00000005347) - c.78G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs462750525 | 27 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259180A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259180A>G Locations: - p.Leu27Pro (Ensembl:ENSBTAT00000005347) - c.80T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs462750525 | 27 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259180A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259180A>C Locations: - p.Leu27Arg (Ensembl:ENSBTAT00000005347) - c.80T>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs444238843 | 27 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037338.1:g.106259181G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259181G>C Locations: - p.Leu27Val (Ensembl:ENSBTAT00000005347) - c.79C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs481345940 | 28 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037338.1:g.106259178G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259178G>C Locations: - p.Arg28Gly (Ensembl:ENSBTAT00000005347) - c.82C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs478606405 | 29 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259174T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259174T>C Locations: - p.Tyr29Cys (Ensembl:ENSBTAT00000005347) - c.86A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs460130704 | 29 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259175A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259175A>G Locations: - p.Tyr29His (Ensembl:ENSBTAT00000005347) - c.85T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs478606405 | 29 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259174T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259174T>G Locations: - p.Tyr29Ser (Ensembl:ENSBTAT00000005347) - c.86A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs457846578 | 30 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259171C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259171C>A Locations: - p.Arg30Leu (Ensembl:ENSBTAT00000005347) - c.89G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs457846578 | 30 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259171C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259171C>G Locations: - p.Arg30Pro (Ensembl:ENSBTAT00000005347) - c.89G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs451060638 | 31 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037338.1:g.106259168A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259168A>G Locations: - p.Val31Ala (Ensembl:ENSBTAT00000005347) - c.92T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs451060638 | 31 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259168A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259168A>C Locations: - p.Val31Gly (Ensembl:ENSBTAT00000005347) - c.92T>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs469599723 | 33 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037338.1:g.106259162T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259162T>C Locations: - p.Asp33Gly (Ensembl:ENSBTAT00000005347) - c.98A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs436686377 | 34 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037338.1:g.106259160T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259160T>G Locations: - p.Thr34Pro (Ensembl:ENSBTAT00000005347) - c.100A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs433971553 | 35 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_037338.1:g.106259156T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259156T>A Locations: - p.Tyr35Phe (Ensembl:ENSBTAT00000005347) - c.104A>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs466765243 | 35 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259157A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259157A>G Locations: - p.Tyr35His (Ensembl:ENSBTAT00000005347) - c.103T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs452459516 | 36 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259154C>T, NC_037338.1:g.106259154C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259154C>T, NC_037338.1:g.106259154C>G Locations: - p.Gly36Arg (Ensembl:ENSBTAT00000005347) - c.106G>A (Ensembl:ENSBTAT00000005347) - c.106G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs438118616 | 37 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259150C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259150C>G Locations: - p.Arg37Pro (Ensembl:ENSBTAT00000005347) - c.110G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs471082533 | 37 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259151G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259151G>T Locations: - p.Arg37Ser (Ensembl:ENSBTAT00000005347) - c.109C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs474855694 | 39 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259145T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259145T>C Locations: - p.Thr39Ala (Ensembl:ENSBTAT00000005347) - c.115A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs441893087 | 39 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259144G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259144G>T Locations: - p.Thr39Lys (Ensembl:ENSBTAT00000005347) - c.116C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs474855694 | 39 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259145T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259145T>G Locations: - p.Thr39Pro (Ensembl:ENSBTAT00000005347) - c.115A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs472152172 | 41 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037338.1:g.106259139G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259139G>T Locations: - p.Gln41Lys (Ensembl:ENSBTAT00000005347) - c.121C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs439204530 | 41 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106259138T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259138T>G Locations: - p.Gln41Pro (Ensembl:ENSBTAT00000005347) - c.122A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs482762194 | 43 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259133G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259133G>T Locations: - p.Leu43Ile (Ensembl:ENSBTAT00000005347) - c.127C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs481684773 | 45 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259126T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259126T>G Locations: - p.Asp45Ala (Ensembl:ENSBTAT00000005347) - c.134A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs448664839 | 45 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259125G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259125G>T Locations: - p.Asp45Glu (Ensembl:ENSBTAT00000005347) - c.135C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs481684773 | 45 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259126T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259126T>C Locations: - p.Asp45Gly (Ensembl:ENSBTAT00000005347) - c.134A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs467125173 | 46 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259123G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259123G>T Locations: - p.Pro46His (Ensembl:ENSBTAT00000005347) - c.137C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs434274636 | 47 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_037338.1:g.106259121T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259121T>C Locations: - p.Ser47Gly (Ensembl:ENSBTAT00000005347) - c.139A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs445987374 | 47 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_037338.1:g.106259120C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259120C>T Locations: - p.Ser47Asn (Ensembl:ENSBTAT00000005347) - c.140G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs464562934 | 47 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037338.1:g.106259119G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259119G>C Locations: - p.Ser47Arg (Ensembl:ENSBTAT00000005347) - c.141C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs456577971 | 48 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037338.1:g.106259117A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259117A>C Locations: - p.Val48Gly (Ensembl:ENSBTAT00000005347) - c.143T>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs438084567 | 48 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259118C>G, NC_037338.1:g.106259118C>A Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259118C>G, NC_037338.1:g.106259118C>A Locations: - p.Val48Leu (Ensembl:ENSBTAT00000005347) - c.142G>C (Ensembl:ENSBTAT00000005347) - c.142G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs435395345 | 50 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259112T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259112T>G Locations: - p.Lys50Gln (Ensembl:ENSBTAT00000005347) - c.148A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs453995626 | 51 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259108C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259108C>G Locations: - p.Ser51Thr (Ensembl:ENSBTAT00000005347) - c.152G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs472472821 | 52 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259105G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259105G>T Locations: - p.Pro52His (Ensembl:ENSBTAT00000005347) - c.155C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs439573222 | 53 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_037338.1:g.106259103A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259103A>G Locations: - p.Cys53Arg (Ensembl:ENSBTAT00000005347) - c.157T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs457739366 | 54 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037338.1:g.106259100A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259100A>G Locations: - p.Ser54Pro (Ensembl:ENSBTAT00000005347) - c.160T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs516662865 | 57 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106259090G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259090G>C Locations: - p.Ala57Gly (Ensembl:ENSBTAT00000005347) - c.170C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs476209584 | 59 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259084A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259084A>T Locations: - p.Val59Glu (Ensembl:ENSBTAT00000005347) - c.176T>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs476209584 | 59 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259084A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259084A>C Locations: - p.Val59Gly (Ensembl:ENSBTAT00000005347) - c.176T>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs518899029 | 59 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_037338.1:g.106259085C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259085C>T Locations: - p.Val59Met (Ensembl:ENSBTAT00000005347) - c.175G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs461836410 | 61 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106259077T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259077T>A Locations: - p.Lys61Asn (Ensembl:ENSBTAT00000005347) - c.183A>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs481396953 | 67 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037338.1:g.106259060T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259060T>G Locations: - p.Asp67Ala (Ensembl:ENSBTAT00000005347) - c.200A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs442150404 | 68 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_037338.1:g.106259057A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259057A>T Locations: - p.Phe68Tyr (Ensembl:ENSBTAT00000005347) - c.203T>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs460612190 | 69 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037338.1:g.106259054C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259054C>G Locations: - p.Ser69Thr (Ensembl:ENSBTAT00000005347) - c.206G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs479101810 | 70 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_037338.1:g.106259052T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259052T>G Locations: - p.Lys70Gln (Ensembl:ENSBTAT00000005347) - c.208A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs446351321 | 71 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037338.1:g.106259048G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259048G>A Locations: - p.Pro71Leu (Ensembl:ENSBTAT00000005347) - c.212C>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs468672023 | 78 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_037338.1:g.106259027C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259027C>T Locations: - p.Cys78Tyr (Ensembl:ENSBTAT00000005347) - c.233G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs435713222 | 81 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_037338.1:g.106259018A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106259018A>T Locations: - p.Leu81Gln (Ensembl:ENSBTAT00000005347) - c.242T>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs466013201 | 83 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037338.1:g.106259013C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037338.1:g.106259013C>A Locations: - p.Glu83Ter (Ensembl:ENSBTAT00000005347) - c.247G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs451511366 | 89 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106258994T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258994T>G Locations: - p.Tyr89Ser (Ensembl:ENSBTAT00000005347) - c.266A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs476216082 | 90 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037338.1:g.106258992T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258992T>G Locations: - p.Thr90Pro (Ensembl:ENSBTAT00000005347) - c.268A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs451556089 | 95 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037338.1:g.106258887A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258887A>G Locations: - p.Tyr95His (Ensembl:ENSBTAT00000005347) - c.283T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs470049798 | 95 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037338.1:g.106258886T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258886T>G Locations: - p.Tyr95Ser (Ensembl:ENSBTAT00000005347) - c.284A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs455234250 | 96 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037338.1:g.106258882C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258882C>G Locations: - p.Lys96Asn (Ensembl:ENSBTAT00000005347) - c.288G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs437125510 | 96 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_037338.1:g.106258883T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258883T>C Locations: - p.Lys96Arg (Ensembl:ENSBTAT00000005347) - c.287A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs440819075 | 97 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_037338.1:g.106258879G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258879G>T Locations: - p.Asn97Lys (Ensembl:ENSBTAT00000005347) - c.291C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs473647853 | 97 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037338.1:g.106258880T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258880T>G Locations: - p.Asn97Thr (Ensembl:ENSBTAT00000005347) - c.290A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs452897196 | 99 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037338.1:g.106258874T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258874T>A Locations: - p.Glu99Val (Ensembl:ENSBTAT00000005347) - c.296A>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs472570149 | 100 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_037338.1:g.106258872T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258872T>C Locations: - p.Met100Val (Ensembl:ENSBTAT00000005347) - c.298A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs458375497 | 102 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106258866C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258866C>A Locations: - p.Gly102Cys (Ensembl:ENSBTAT00000005347) - c.304G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs476931903 | 103 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037338.1:g.106258862C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258862C>G Locations: - p.Arg103Pro (Ensembl:ENSBTAT00000005347) - c.308G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs480624601 | 104 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_037338.1:g.106258858G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258858G>C Locations: - p.Phe104Leu (Ensembl:ENSBTAT00000005347) - c.312C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs462094235 | 104 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_037338.1:g.106258860A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258860A>G Locations: - p.Phe104Leu (Ensembl:ENSBTAT00000005347) - c.310T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs447749581 | 105 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106258856G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258856G>T Locations: - p.Pro105Gln (Ensembl:ENSBTAT00000005347) - c.314C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs447749581 | 105 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106258856G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258856G>C Locations: - p.Pro105Arg (Ensembl:ENSBTAT00000005347) - c.314C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs478381425 | 106 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037338.1:g.106258854G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258854G>A Locations: - p.Pro106Ser (Ensembl:ENSBTAT00000005347) - c.316C>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs437073085 | 111 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_037338.1:g.106258839C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258839C>A Locations: - p.Ala111Ser (Ensembl:ENSBTAT00000005347) - c.331G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs449097937 | 113 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106258833C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258833C>A Locations: - p.Gly113Trp (Ensembl:ENSBTAT00000005347) - c.337G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs467159451 | 116 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_037338.1:g.106258823C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258823C>G Locations: - p.Gly116Ala (Ensembl:ENSBTAT00000005347) - c.347G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs467159451 | 116 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_037338.1:g.106258823C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258823C>A Locations: - p.Gly116Val (Ensembl:ENSBTAT00000005347) - c.347G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs434362584 | 117 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037338.1:g.106258821C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258821C>A Locations: - p.Gly117Cys (Ensembl:ENSBTAT00000005347) - c.349G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs452861761 | 117 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_037338.1:g.106258820C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258820C>T Locations: - p.Gly117Asp (Ensembl:ENSBTAT00000005347) - c.350G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs471287120 | 120 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_037338.1:g.106258812C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258812C>A Locations: - p.Val120Leu (Ensembl:ENSBTAT00000005347) - c.358G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs432091747 | 122 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037338.1:g.106258805C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258805C>A Locations: - p.Arg122Met (Ensembl:ENSBTAT00000005347) - c.365G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs451805257 | 124 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_037338.1:g.106258800C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258800C>A Locations: - p.Val124Phe (Ensembl:ENSBTAT00000005347) - c.370G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs443853588 | 127 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037338.1:g.106258791G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258791G>T Locations: - p.Pro127Thr (Ensembl:ENSBTAT00000005347) - c.379C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs462463846 | 128 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037338.1:g.106258788C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258788C>G Locations: - p.Ala128Pro (Ensembl:ENSBTAT00000005347) - c.382G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs474167027 | 129 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037338.1:g.106258785C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258785C>G Locations: - p.Gly129Arg (Ensembl:ENSBTAT00000005347) - c.385G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs474167027 | 129 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037338.1:g.106258785C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258785C>T Locations: - p.Gly129Ser (Ensembl:ENSBTAT00000005347) - c.385G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs441222454 | 130 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_037338.1:g.106258782A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258782A>G Locations: - p.Phe130Leu (Ensembl:ENSBTAT00000005347) - c.388T>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs459776686 | 134 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037338.1:g.106258769G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258769G>T Locations: - p.Pro134His (Ensembl:ENSBTAT00000005347) - c.401C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs478344081 | 136 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037338.1:g.106258763T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258763T>C Locations: - p.Tyr136Cys (Ensembl:ENSBTAT00000005347) - c.407A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs478344081 | 136 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_037338.1:g.106258763T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258763T>G Locations: - p.Tyr136Ser (Ensembl:ENSBTAT00000005347) - c.407A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs445370843 | 137 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_037338.1:g.106258760G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258760G>A Locations: - p.Ala137Val (Ensembl:ENSBTAT00000005347) - c.410C>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs463471281 | 139 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106258754C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258754C>G Locations: - p.Cys139Ser (Ensembl:ENSBTAT00000005347) - c.416G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs482076586 | 140 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037338.1:g.106258751G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258751G>C Locations: - p.Pro140Arg (Ensembl:ENSBTAT00000005347) - c.419C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs467523702 | 143 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037338.1:g.106258743T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258743T>A Locations: - p.Arg143Trp (Ensembl:ENSBTAT00000005347) - c.427A>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs465014057 | 146 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037338.1:g.106258733T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258733T>G Locations: - p.Asp146Ala (Ensembl:ENSBTAT00000005347) - c.437A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs432016391 | 146 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_037338.1:g.106258732G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258732G>C Locations: - p.Asp146Glu (Ensembl:ENSBTAT00000005347) - c.438C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs465014057 | 146 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037338.1:g.106258733T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258733T>C Locations: - p.Asp146Gly (Ensembl:ENSBTAT00000005347) - c.437A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs446386294 | 146 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037338.1:g.106258734C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258734C>A Locations: - p.Asp146Tyr (Ensembl:ENSBTAT00000005347) - c.436G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs457033984 | 147 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037338.1:g.106258731A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258731A>T Locations: - p.Ser147Thr (Ensembl:ENSBTAT00000005347) - c.439T>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs455959027 | 149 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_037338.1:g.106258723G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258723G>C Locations: - p.Asp149Glu (Ensembl:ENSBTAT00000005347) - c.447C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs437416757 | 149 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_037338.1:g.106258724T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258724T>C Locations: - p.Asp149Gly (Ensembl:ENSBTAT00000005347) - c.446A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs474483855 | 150 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_037338.1:g.106258722G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258722G>A Locations: - p.Leu150Phe (Ensembl:ENSBTAT00000005347) - c.448C>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs441583317 | 151 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037338.1:g.106258719C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037338.1:g.106258719C>A Locations: - p.Gly151Ter (Ensembl:ENSBTAT00000005347) - c.451G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs453319847 | 152 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106258716G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258716G>T Locations: - p.His152Asn (Ensembl:ENSBTAT00000005347) - c.454C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs438840222 | 156 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037338.1:g.106258703C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258703C>G Locations: - p.Arg156Pro (Ensembl:ENSBTAT00000005347) - c.467G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs463878603 | 157 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037338.1:g.106258701G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258701G>C Locations: - p.Leu157Val (Ensembl:ENSBTAT00000005347) - c.469C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs482046641 | 159 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037338.1:g.106258694A>T Codon: TTA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037338.1:g.106258694A>T Locations: - p.Leu159Ter (Ensembl:ENSBTAT00000005347) - c.476T>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs442555301 | 162 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037338.1:g.106258685T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258685T>C Locations: - p.Glu162Gly (Ensembl:ENSBTAT00000005347) - c.485A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs461015222 | 163 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037338.1:g.106258683C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258683C>G Locations: - p.Ala163Pro (Ensembl:ENSBTAT00000005347) - c.487G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs446702532 | 166 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037338.1:g.106258674T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258674T>G Locations: - p.Ser166Arg (Ensembl:ENSBTAT00000005347) - c.496A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs464885584 | 166 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037338.1:g.106258672G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258672G>T Locations: - p.Ser166Arg (Ensembl:ENSBTAT00000005347) - c.498C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs477056137 | 167 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_037338.1:g.106258671T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258671T>G Locations: - p.Thr167Pro (Ensembl:ENSBTAT00000005347) - c.499A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs469083843 | 168 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: NC_037338.1:g.106258667G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258667G>T Locations: - p.Ala168Asp (Ensembl:ENSBTAT00000005347) - c.503C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs450472968 | 168 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: NC_037338.1:g.106258668C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258668C>T Locations: - p.Ala168Thr (Ensembl:ENSBTAT00000005347) - c.502G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs436113618 | 171 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037338.1:g.106258658C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258658C>T Locations: - p.Cys171Tyr (Ensembl:ENSBTAT00000005347) - c.512G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs455922143 | 175 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_037338.1:g.106258646C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258646C>G Locations: - p.Gly175Ala (Ensembl:ENSBTAT00000005347) - c.524G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs448190611 | 181 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037338.1:g.106258534T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258534T>A Locations: - p.His181Leu (Ensembl:ENSBTAT00000005347) - c.542A>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs467928442 | 182 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037338.1:g.106258530G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037338.1:g.106258530G>T Locations: - p.Cys182Ter (Ensembl:ENSBTAT00000005347) - c.546C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs467928442 | 182 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037338.1:g.106258530G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258530G>C Locations: - p.Cys182Trp (Ensembl:ENSBTAT00000005347) - c.546C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs453508504 | 185 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_037338.1:g.106258522T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258522T>C Locations: - p.Asp185Gly (Ensembl:ENSBTAT00000005347) - c.554A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs434988738 | 185 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_037338.1:g.106258523C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258523C>T Locations: - p.Asp185Asn (Ensembl:ENSBTAT00000005347) - c.553G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs432711466 | 191 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037338.1:g.106258504G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258504G>C Locations: - p.Ala191Gly (Ensembl:ENSBTAT00000005347) - c.572C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs457324544 | 193 | W>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: NC_037338.1:g.106258498C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258498C>G Locations: - p.Trp193Ser (Ensembl:ENSBTAT00000005347) - c.578G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs454288035 | 195 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037338.1:g.106258491C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258491C>A Locations: - p.Glu195Asp (Ensembl:ENSBTAT00000005347) - c.585G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs475656095 | 195 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106258492T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258492T>C Locations: - p.Glu195Gly (Ensembl:ENSBTAT00000005347) - c.584A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs436412712 | 196 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037338.1:g.106258490T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258490T>C Locations: - p.Thr196Ala (Ensembl:ENSBTAT00000005347) - c.586A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs472979607 | 198 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037338.1:g.106258484C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258484C>G Locations: - p.Asp198His (Ensembl:ENSBTAT00000005347) - c.592G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs440165106 | 199 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106258480A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258480A>C Locations: - p.Val199Gly (Ensembl:ENSBTAT00000005347) - c.596T>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs458713680 | 205 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037338.1:g.106258463G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258463G>T Locations: - p.Leu205Met (Ensembl:ENSBTAT00000005347) - c.613C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs444335650 | 212 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037338.1:g.106258442T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258442T>G Locations: - p.Lys212Gln (Ensembl:ENSBTAT00000005347) - c.634A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs462500280 | 217 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106258427T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258427T>G Locations: - p.Lys217Gln (Ensembl:ENSBTAT00000005347) - c.649A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs481026586 | 218 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106258423G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106258423G>T Locations: - p.Ala218Asp (Ensembl:ENSBTAT00000005347) - c.653C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs457787729 | 256 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106257832C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257832C>A Locations: - p.Arg256Ile (Ensembl:ENSBTAT00000005347) - c.767G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs482796893 | 257 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037338.1:g.106257830T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257830T>G Locations: - p.Asn257His (Ensembl:ENSBTAT00000005347) - c.769A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs444581837 | 260 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_037338.1:g.106257820C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257820C>A Locations: - p.Cys260Phe (Ensembl:ENSBTAT00000005347) - c.779G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs463024893 | 268 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037338.1:g.106257796C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257796C>G Locations: - p.Ser268Thr (Ensembl:ENSBTAT00000005347) - c.803G>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs448697537 | 269 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106257793G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257793G>C Locations: - p.Thr269Arg (Ensembl:ENSBTAT00000005347) - c.806C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs466761997 | 270 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106257790T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257790T>G Locations: - p.His270Pro (Ensembl:ENSBTAT00000005347) - c.809A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs479068025 | 272 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106257785G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257785G>C Locations: - p.Pro272Ala (Ensembl:ENSBTAT00000005347) - c.814C>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs446100731 | 275 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037338.1:g.106257776T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257776T>G Locations: - p.Thr275Pro (Ensembl:ENSBTAT00000005347) - c.823A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs464603861 | 279 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037338.1:g.106257762G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257762G>T Locations: - p.Ser279Arg (Ensembl:ENSBTAT00000005347) - c.837C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs468418851 | 287 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037338.1:g.106257738C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257738C>T Locations: - p.Met287Ile (Ensembl:ENSBTAT00000005347) - c.861G>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs454032823 | 290 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106257729T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257729T>C Locations: - p.Ile290Met (Ensembl:ENSBTAT00000005347) - c.870A>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs435432404 | 290 | I>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106257730A>C Codon: ATA/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257730A>C Locations: - p.Ile290Arg (Ensembl:ENSBTAT00000005347) - c.869T>G (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs472202208 | 291 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106257727G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257727G>T Locations: - p.Pro291His (Ensembl:ENSBTAT00000005347) - c.872C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs480710465 | 307 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037338.1:g.106257292C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257292C>A Locations: - p.Lys307Asn (Ensembl:ENSBTAT00000005347) - c.921G>T (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs459436934 | 317 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_037338.1:g.106257262G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037338.1:g.106257262G>T Locations: - p.Ser317Arg (Ensembl:ENSBTAT00000005347) - c.951C>A (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: | |||||||
rs478059005 | 321 | *>C | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_037338.1:g.106257250T>G Codon: TGA/TGC Consequence type: stop lost Cytogenetic band: Genomic location: NC_037338.1:g.106257250T>G Locations: - p.Ter321CysextTer32 (Ensembl:ENSBTAT00000005347) - c.963A>C (Ensembl:ENSBTAT00000005347) Source type: large scale study Cross-references: |