A5H631 · A5H631_BOVIN
- ProteinToll-like receptor 9
- GeneTLR9
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1029 (go to sequence)
- Protein existenceInferred from homology
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs444182242 | 3 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037349.1:g.48677809C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677809C>G Locations: - p.Pro3Arg (Ensembl:ENSBTAT00000024223) - c.8C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481239327 | 14 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037349.1:g.48677841G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677841G>T Locations: - p.Val14Leu (Ensembl:ENSBTAT00000024223) - c.40G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs446685328 | 15 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_037349.1:g.48677846G>T, NC_037349.1:g.48677846G>C Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677846G>T, NC_037349.1:g.48677846G>C Locations: - p.Gln15His (Ensembl:ENSBTAT00000024223) - c.45G>T (Ensembl:ENSBTAT00000024223) - c.45G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs134422670 | 21 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_037349.1:g.48677863C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677863C>G Locations: - p.Ala21Gly (Ensembl:ENSBTAT00000024223) - c.62C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477349338 | 22 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.48677866C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677866C>G Locations: - p.Ala22Gly (Ensembl:ENSBTAT00000024223) - c.65C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445144854 | 23 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48677869T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677869T>C Locations: - p.Leu23Pro (Ensembl:ENSBTAT00000024223) - c.68T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437265227 | 24 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48677872C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677872C>A Locations: - p.Ala24Asp (Ensembl:ENSBTAT00000024223) - c.71C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437265227 | 24 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_037349.1:g.48677872C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677872C>G Locations: - p.Ala24Gly (Ensembl:ENSBTAT00000024223) - c.71C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467728035 | 27 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_037349.1:g.48677881C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677881C>A Locations: - p.Thr27Asn (Ensembl:ENSBTAT00000024223) - c.80C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs436522268 | 28 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48677884T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677884T>C Locations: - p.Leu28Pro (Ensembl:ENSBTAT00000024223) - c.83T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs473654476 | 29 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48677886C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677886C>A Locations: - p.Pro29Thr (Ensembl:ENSBTAT00000024223) - c.85C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs136180691 | 31 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48677892T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677892T>C Locations: - p.Phe31Leu (Ensembl:ENSBTAT00000024223) - c.91T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444120680 | 35 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48677905A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677905A>T Locations: - p.Glu35Val (Ensembl:ENSBTAT00000024223) - c.104A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461014040 | 37 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037349.1:g.48677911A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677911A>C Locations: - p.Gln37Pro (Ensembl:ENSBTAT00000024223) - c.110A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474715161 | 38 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_037349.1:g.48677913C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677913C>G Locations: - p.Pro38Ala (Ensembl:ENSBTAT00000024223) - c.112C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440191995 | 42 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48677926T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677926T>G Locations: - p.Val42Gly (Ensembl:ENSBTAT00000024223) - c.125T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477336879 | 50 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037349.1:g.48677951G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677951G>T Locations: - p.Lys50Asn (Ensembl:ENSBTAT00000024223) - c.150G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460357545 | 50 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48677950A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677950A>G Locations: - p.Lys50Arg (Ensembl:ENSBTAT00000024223) - c.149A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445961804 | 52 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48677956T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677956T>G Locations: - p.Val52Gly (Ensembl:ENSBTAT00000024223) - c.155T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458861116 | 54 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_037349.1:g.48677962A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677962A>C Locations: - p.His54Pro (Ensembl:ENSBTAT00000024223) - c.161A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467666447 | 59 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_037349.1:g.48677976G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677976G>C Locations: - p.Ala59Pro (Ensembl:ENSBTAT00000024223) - c.175G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs436459855 | 61 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48677982C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677982C>G Locations: - p.Arg61Gly (Ensembl:ENSBTAT00000024223) - c.181C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs133437073 | 65 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48677994A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48677994A>C Locations: - p.Thr65Pro (Ensembl:ENSBTAT00000024223) - c.193A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs452799069 | 72 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678016A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678016A>C Locations: - p.Asn72Thr (Ensembl:ENSBTAT00000024223) - c.215A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs476126060 | 73 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037349.1:g.48678019G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678019G>T Locations: - p.Arg73Leu (Ensembl:ENSBTAT00000024223) - c.218G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs476126060 | 73 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678019G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678019G>C Locations: - p.Arg73Pro (Ensembl:ENSBTAT00000024223) - c.218G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437556228 | 74 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678022T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678022T>C Locations: - p.Ile74Thr (Ensembl:ENSBTAT00000024223) - c.221T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454531063 | 75 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678025A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678025A>C Locations: - p.His75Pro (Ensembl:ENSBTAT00000024223) - c.224A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474651900 | 76 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678028A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678028A>C Locations: - p.His76Pro (Ensembl:ENSBTAT00000024223) - c.227A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474651900 | 76 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037349.1:g.48678028A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678028A>G Locations: - p.His76Arg (Ensembl:ENSBTAT00000024223) - c.227A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440178076 | 77 | L>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678031T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678031T>G Locations: - p.Leu77Trp (Ensembl:ENSBTAT00000024223) - c.230T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460286792 | 82 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678046T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678046T>G Locations: - p.Phe82Cys (Ensembl:ENSBTAT00000024223) - c.245T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs457321682 | 82 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678045T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678045T>A Locations: - p.Phe82Ile (Ensembl:ENSBTAT00000024223) - c.244T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460286792 | 82 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678046T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678046T>C Locations: - p.Phe82Ser (Ensembl:ENSBTAT00000024223) - c.245T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470837161 | 87 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678061A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678061A>C Locations: - p.Asn87Thr (Ensembl:ENSBTAT00000024223) - c.260A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs439410131 | 89 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678067G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678067G>C Locations: - p.Arg89Pro (Ensembl:ENSBTAT00000024223) - c.266G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs482736403 | 90 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_037349.1:g.48678070T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678070T>C Locations: - p.Val90Ala (Ensembl:ENSBTAT00000024223) - c.269T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs482736403 | 90 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037349.1:g.48678070T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678070T>A Locations: - p.Val90Asp (Ensembl:ENSBTAT00000024223) - c.269T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs462823058 | 90 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_037349.1:g.48678069G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678069G>T Locations: - p.Val90Phe (Ensembl:ENSBTAT00000024223) - c.268G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450754589 | 95 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48678085G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48678085G>A Locations: - p.Trp95Ter (Ensembl:ENSBTAT00000024223) - c.284G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs55617136 | 100 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_037349.1:g.48678100C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678100C>T Locations: - p.Ala100Val (Ensembl:ENSBTAT00000024223) - c.299C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481314548 | 105 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_037349.1:g.48678115T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678115T>G Locations: - p.Met105Arg (Ensembl:ENSBTAT00000024223) - c.314T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs446971301 | 106 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_037349.1:g.48678117C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678117C>A Locations: - p.His106Asn (Ensembl:ENSBTAT00000024223) - c.316C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467113640 | 106 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678118A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678118A>C Locations: - p.His106Pro (Ensembl:ENSBTAT00000024223) - c.317A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs432528837 | 112 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678135A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678135A>C Locations: - p.Thr112Pro (Ensembl:ENSBTAT00000024223) - c.334A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs446217063 | 114 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.48678142A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678142A>C Locations: - p.Glu114Ala (Ensembl:ENSBTAT00000024223) - c.341A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469658427 | 115 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037349.1:g.48678144C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678144C>A Locations: - p.Pro115Thr (Ensembl:ENSBTAT00000024223) - c.343C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438317947 | 117 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678150A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678150A>C Locations: - p.Thr117Pro (Ensembl:ENSBTAT00000024223) - c.349A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs468204238 | 131 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_037349.1:g.48678193A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678193A>C Locations: - p.Tyr131Ser (Ensembl:ENSBTAT00000024223) - c.392A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs453764682 | 136 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_037349.1:g.48678207A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678207A>G Locations: - p.Thr136Ala (Ensembl:ENSBTAT00000024223) - c.406A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs453764682 | 136 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48678207A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678207A>C Locations: - p.Thr136Pro (Ensembl:ENSBTAT00000024223) - c.406A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470688722 | 137 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.48678210G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678210G>T Locations: - p.Val137Leu (Ensembl:ENSBTAT00000024223) - c.409G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456273409 | 139 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_037349.1:g.48678217C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678217C>G Locations: - p.Ala139Gly (Ensembl:ENSBTAT00000024223) - c.416C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs441910806 | 149 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678247T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678247T>G Locations: - p.Leu149Arg (Ensembl:ENSBTAT00000024223) - c.446T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461162752 | 151 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037349.1:g.48678253A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678253A>C Locations: - p.His151Pro (Ensembl:ENSBTAT00000024223) - c.452A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461162752 | 151 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.48678253A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678253A>G Locations: - p.His151Arg (Ensembl:ENSBTAT00000024223) - c.452A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481246763 | 152 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678255A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678255A>C Locations: - p.Thr152Pro (Ensembl:ENSBTAT00000024223) - c.454A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460619188 | 153 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678259G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678259G>T Locations: - p.Ser153Ile (Ensembl:ENSBTAT00000024223) - c.458G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477561625 | 154 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678261A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678261A>T Locations: - p.Ile154Phe (Ensembl:ENSBTAT00000024223) - c.460A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs446178592 | 158 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678274G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678274G>C Locations: - p.Gly158Ala (Ensembl:ENSBTAT00000024223) - c.473G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469622902 | 159 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_037349.1:g.48678277C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678277C>A Locations: - p.Pro159His (Ensembl:ENSBTAT00000024223) - c.476C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs483278603 | 160 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48678279A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678279A>C Locations: - p.Thr160Pro (Ensembl:ENSBTAT00000024223) - c.478A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448829915 | 163 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.48678288A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678288A>G Locations: - p.Thr163Ala (Ensembl:ENSBTAT00000024223) - c.487A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469483457 | 169 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.48678307G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678307G>A Locations: - p.Arg169His (Ensembl:ENSBTAT00000024223) - c.506G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469483457 | 169 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.48678307G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678307G>T Locations: - p.Arg169Leu (Ensembl:ENSBTAT00000024223) - c.506G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433535223 | 172 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48678317C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48678317C>G Locations: - p.Tyr172Ter (Ensembl:ENSBTAT00000024223) - c.516C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs381469572 | 173 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48678318A>C, NC_037349.1:g.48678318A>T Codon: ATG/CTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678318A>C, NC_037349.1:g.48678318A>T Locations: - p.Met173Leu (Ensembl:ENSBTAT00000024223) - c.517A>C (Ensembl:ENSBTAT00000024223) - c.517A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs432927021 | 178 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678334A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678334A>G Locations: - p.Tyr178Cys (Ensembl:ENSBTAT00000024223) - c.533A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456307157 | 181 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678343A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678343A>C Locations: - p.Asn181Thr (Ensembl:ENSBTAT00000024223) - c.542A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs476251603 | 183 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48678350C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48678350C>A Locations: - p.Cys183Ter (Ensembl:ENSBTAT00000024223) - c.549C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs441843010 | 184 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037349.1:g.48678351C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678351C>A Locations: - p.Pro184Thr (Ensembl:ENSBTAT00000024223) - c.550C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440347088 | 186 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48678358C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678358C>G Locations: - p.Ala186Gly (Ensembl:ENSBTAT00000024223) - c.557C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs472316357 | 186 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037349.1:g.48678357G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678357G>A Locations: - p.Ala186Thr (Ensembl:ENSBTAT00000024223) - c.556G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460503473 | 189 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.48678367T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678367T>C Locations: - p.Val189Ala (Ensembl:ENSBTAT00000024223) - c.566T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460503473 | 189 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678367T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678367T>G Locations: - p.Val189Gly (Ensembl:ENSBTAT00000024223) - c.566T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477535276 | 192 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678375G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678375G>T Locations: - p.Gly192Cys (Ensembl:ENSBTAT00000024223) - c.574G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs483189051 | 194 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678382T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678382T>C Locations: - p.Leu194Pro (Ensembl:ENSBTAT00000024223) - c.581T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs483189051 | 194 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678382T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678382T>G Locations: - p.Leu194Arg (Ensembl:ENSBTAT00000024223) - c.581T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs468830194 | 198 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_037349.1:g.48678394G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678394G>C Locations: - p.Gly198Ala (Ensembl:ENSBTAT00000024223) - c.593G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448716607 | 198 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.48678393G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678393G>T Locations: - p.Gly198Cys (Ensembl:ENSBTAT00000024223) - c.592G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479358120 | 201 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.48678402A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678402A>C Locations: - p.Thr201Pro (Ensembl:ENSBTAT00000024223) - c.601A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs464166179 | 207 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678420T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678420T>G Locations: - p.Tyr207Asp (Ensembl:ENSBTAT00000024223) - c.619T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs464166179 | 207 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037349.1:g.48678420T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678420T>C Locations: - p.Tyr207His (Ensembl:ENSBTAT00000024223) - c.619T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs432855928 | 207 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678421A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678421A>C Locations: - p.Tyr207Ser (Ensembl:ENSBTAT00000024223) - c.620A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs449716918 | 208 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678424A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678424A>C Locations: - p.Asn208Thr (Ensembl:ENSBTAT00000024223) - c.623A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469727346 | 213 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678439T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678439T>G Locations: - p.Val213Gly (Ensembl:ENSBTAT00000024223) - c.638T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs435318442 | 215 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678445G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678445G>C Locations: - p.Arg215Pro (Ensembl:ENSBTAT00000024223) - c.644G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs1115677747 | 218 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678453C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678453C>T Locations: - p.Pro218Ser (Ensembl:ENSBTAT00000024223) - c.652C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs472482557 | 220 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678460G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678460G>A Locations: - p.Ser220Asn (Ensembl:ENSBTAT00000024223) - c.659G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs434724570 | 220 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678461C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678461C>A Locations: - p.Ser220Arg (Ensembl:ENSBTAT00000024223) - c.660C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs471007923 | 223 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_037349.1:g.48678468A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678468A>C Locations: - p.Thr223Pro (Ensembl:ENSBTAT00000024223) - c.667A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs439605331 | 227 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.48678480T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678480T>G Locations: - p.Ser227Ala (Ensembl:ENSBTAT00000024223) - c.679T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs463018261 | 228 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037349.1:g.48678484A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678484A>C Locations: - p.Tyr228Ser (Ensembl:ENSBTAT00000024223) - c.683A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442195975 | 231 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678492A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678492A>C Locations: - p.Ile231Leu (Ensembl:ENSBTAT00000024223) - c.691A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479351626 | 232 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_037349.1:g.48678496T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678496T>C Locations: - p.Val232Ala (Ensembl:ENSBTAT00000024223) - c.695T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs457722892 | 233 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_037349.1:g.48678499C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678499C>A Locations: - p.Thr233Asn (Ensembl:ENSBTAT00000024223) - c.698C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs457722892 | 233 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_037349.1:g.48678499C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678499C>G Locations: - p.Thr233Ser (Ensembl:ENSBTAT00000024223) - c.698C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs449610767 | 234 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678502T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678502T>G Locations: - p.Leu234Arg (Ensembl:ENSBTAT00000024223) - c.701T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469668356 | 235 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_037349.1:g.48678504G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678504G>A Locations: - p.Ala235Thr (Ensembl:ENSBTAT00000024223) - c.703G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448993823 | 236 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678507C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678507C>A Locations: - p.Pro236Thr (Ensembl:ENSBTAT00000024223) - c.706C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs434664981 | 238 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678514A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678514A>G Locations: - p.Asp238Gly (Ensembl:ENSBTAT00000024223) - c.713A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465967058 | 238 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48678513G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678513G>A Locations: - p.Asp238Asn (Ensembl:ENSBTAT00000024223) - c.712G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456530548 | 240 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678520C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678520C>A Locations: - p.Ala240Asp (Ensembl:ENSBTAT00000024223) - c.719C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433107723 | 240 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678519G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678519G>C Locations: - p.Ala240Pro (Ensembl:ENSBTAT00000024223) - c.718G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs476697208 | 241 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678523A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678523A>C Locations: - p.Asn241Thr (Ensembl:ENSBTAT00000024223) - c.722A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs462325089 | 242 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678526T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678526T>A Locations: - p.Leu242Gln (Ensembl:ENSBTAT00000024223) - c.725T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442179661 | 242 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037349.1:g.48678525C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678525C>G Locations: - p.Leu242Val (Ensembl:ENSBTAT00000024223) - c.724C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs472802026 | 245 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678534C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678534C>A Locations: - p.Leu245Met (Ensembl:ENSBTAT00000024223) - c.733C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs441426914 | 245 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678535T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678535T>A Locations: - p.Leu245Gln (Ensembl:ENSBTAT00000024223) - c.734T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs478565286 | 246 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678538G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678538G>A Locations: - p.Arg246His (Ensembl:ENSBTAT00000024223) - c.737G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs478565286 | 246 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678538G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678538G>C Locations: - p.Arg246Pro (Ensembl:ENSBTAT00000024223) - c.737G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458343960 | 246 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037349.1:g.48678537C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678537C>A Locations: - p.Arg246Ser (Ensembl:ENSBTAT00000024223) - c.736C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448933581 | 253 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678558A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678558A>G Locations: - p.Asn253Asp (Ensembl:ENSBTAT00000024223) - c.757A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465958275 | 254 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48678563C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48678563C>A Locations: - p.Cys254Ter (Ensembl:ENSBTAT00000024223) - c.762C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479622108 | 255 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678564C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678564C>A Locations: - p.Arg255Ser (Ensembl:ENSBTAT00000024223) - c.763C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465175880 | 257 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678570T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678570T>C Locations: - p.Cys257Arg (Ensembl:ENSBTAT00000024223) - c.769T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437140762 | 258 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678574A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678574A>C Locations: - p.Asp258Ala (Ensembl:ENSBTAT00000024223) - c.773A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437140762 | 258 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678574A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678574A>G Locations: - p.Asp258Gly (Ensembl:ENSBTAT00000024223) - c.773A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456518127 | 262 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48678586A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678586A>C Locations: - p.Asn262Thr (Ensembl:ENSBTAT00000024223) - c.785A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470211160 | 269 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_037349.1:g.48678607A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678607A>G Locations: - p.Lys269Arg (Ensembl:ENSBTAT00000024223) - c.806A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs435653954 | 275 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037349.1:g.48678625A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678625A>C Locations: - p.His275Pro (Ensembl:ENSBTAT00000024223) - c.824A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs455723662 | 276 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48678628C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678628C>A Locations: - p.Pro276His (Ensembl:ENSBTAT00000024223) - c.827C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs472757527 | 298 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678694T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678694T>G Locations: - p.Leu298Arg (Ensembl:ENSBTAT00000024223) - c.893T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs441354442 | 316 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037349.1:g.48678749G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678749G>T Locations: - p.Glu316Asp (Ensembl:ENSBTAT00000024223) - c.948G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs451885454 | 350 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678850T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678850T>C Locations: - p.Phe350Ser (Ensembl:ENSBTAT00000024223) - c.1049T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs471904667 | 352 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037349.1:g.48678855C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678855C>T Locations: - p.His352Tyr (Ensembl:ENSBTAT00000024223) - c.1054C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs463170008 | 360 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: NC_037349.1:g.48678879G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678879G>C Locations: - p.Gly360Arg (Ensembl:ENSBTAT00000024223) - c.1078G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs480046832 | 361 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_037349.1:g.48678882A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678882A>G Locations: - p.Ser361Gly (Ensembl:ENSBTAT00000024223) - c.1081A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442393443 | 366 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48678897G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48678897G>T Locations: - p.Glu366Ter (Ensembl:ENSBTAT00000024223) - c.1096G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479561945 | 369 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_037349.1:g.48678908C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678908C>A Locations: - p.Asp369Glu (Ensembl:ENSBTAT00000024223) - c.1107C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459338570 | 369 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037349.1:g.48678906G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678906G>T Locations: - p.Asp369Tyr (Ensembl:ENSBTAT00000024223) - c.1105G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444988920 | 371 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037349.1:g.48678913A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678913A>C Locations: - p.His371Pro (Ensembl:ENSBTAT00000024223) - c.1112A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs482098812 | 373 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_037349.1:g.48678918A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678918A>T Locations: - p.Ile373Phe (Ensembl:ENSBTAT00000024223) - c.1117A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467688596 | 377 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678930T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678930T>C Locations: - p.Ser377Pro (Ensembl:ENSBTAT00000024223) - c.1129T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467688596 | 377 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_037349.1:g.48678930T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678930T>A Locations: - p.Ser377Thr (Ensembl:ENSBTAT00000024223) - c.1129T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs435549086 | 378 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678934T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678934T>A Locations: - p.Leu378His (Ensembl:ENSBTAT00000024223) - c.1133T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs455732490 | 379 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678936A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678936A>G Locations: - p.Thr379Ala (Ensembl:ENSBTAT00000024223) - c.1135A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs455732490 | 379 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48678936A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678936A>C Locations: - p.Thr379Pro (Ensembl:ENSBTAT00000024223) - c.1135A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs466179979 | 382 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48678945A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678945A>C Locations: - p.Thr382Pro (Ensembl:ENSBTAT00000024223) - c.1144A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs473270955 | 383 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678949T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678949T>C Locations: - p.Leu383Pro (Ensembl:ENSBTAT00000024223) - c.1148T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs210982793 | 385 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48678954C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678954C>T Locations: - p.Pro385Ser (Ensembl:ENSBTAT00000024223) - c.1153C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs719451817 | 388 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_037349.1:g.48678964G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678964G>A Locations: - p.Arg388Gln (Ensembl:ENSBTAT00000024223) - c.1163G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs457447721 | 389 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48678966C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678966C>A Locations: - p.Leu389Met (Ensembl:ENSBTAT00000024223) - c.1165C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474318825 | 389 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48678967T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678967T>C Locations: - p.Leu389Pro (Ensembl:ENSBTAT00000024223) - c.1166T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442344037 | 391 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.48678972A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678972A>G Locations: - p.Lys391Glu (Ensembl:ENSBTAT00000024223) - c.1171A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459394890 | 394 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.85) Somatic: No Accession: NC_037349.1:g.48678983T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678983T>A Locations: - p.Ser394Arg (Ensembl:ENSBTAT00000024223) - c.1182T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs55617258 | 396 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.48678988G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48678988G>A Locations: - p.Arg396His (Ensembl:ENSBTAT00000024223) - c.1187G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481986181 | 403 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679008A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679008A>C Locations: - p.Asn403His (Ensembl:ENSBTAT00000024223) - c.1207A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450732823 | 403 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679009A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679009A>T Locations: - p.Asn403Ile (Ensembl:ENSBTAT00000024223) - c.1208A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450732823 | 403 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48679009A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679009A>C Locations: - p.Asn403Thr (Ensembl:ENSBTAT00000024223) - c.1208A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461207957 | 407 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679021T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679021T>C Locations: - p.Leu407Pro (Ensembl:ENSBTAT00000024223) - c.1220T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481319857 | 410 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679029T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679029T>C Locations: - p.Phe410Leu (Ensembl:ENSBTAT00000024223) - c.1228T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs449187354 | 413 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_037349.1:g.48679038T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679038T>C Locations: - p.Phe413Leu (Ensembl:ENSBTAT00000024223) - c.1237T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs466226297 | 414 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_037349.1:g.48679042C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679042C>G Locations: - p.Pro414Arg (Ensembl:ENSBTAT00000024223) - c.1241C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445356458 | 423 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679069A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679069A>T Locations: - p.Asp423Val (Ensembl:ENSBTAT00000024223) - c.1268A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465321516 | 424 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679071A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679071A>T Locations: - p.Asn424Tyr (Ensembl:ENSBTAT00000024223) - c.1270A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437325309 | 431 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_037349.1:g.48679092A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679092A>C Locations: - p.Thr431Pro (Ensembl:ENSBTAT00000024223) - c.1291A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs436727253 | 433 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_037349.1:g.48679099C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679099C>A Locations: - p.Ala433Glu (Ensembl:ENSBTAT00000024223) - c.1298C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474304612 | 433 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037349.1:g.48679098G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679098G>C Locations: - p.Ala433Pro (Ensembl:ENSBTAT00000024223) - c.1297G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438402581 | 436 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_037349.1:g.48679108T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679108T>C Locations: - p.Leu436Pro (Ensembl:ENSBTAT00000024223) - c.1307T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438402581 | 436 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_037349.1:g.48679108T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679108T>G Locations: - p.Leu436Arg (Ensembl:ENSBTAT00000024223) - c.1307T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs207807011 | 437 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_037349.1:g.48679111G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679111G>A Locations: - p.Gly437Glu (Ensembl:ENSBTAT00000024223) - c.1310G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458592326 | 438 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48679114A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679114A>C Locations: - p.Glu438Ala (Ensembl:ENSBTAT00000024223) - c.1313A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475512279 | 439 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_037349.1:g.48679117T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679117T>A Locations: - p.Val439Glu (Ensembl:ENSBTAT00000024223) - c.1316T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475512279 | 439 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_037349.1:g.48679117T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679117T>G Locations: - p.Val439Gly (Ensembl:ENSBTAT00000024223) - c.1316T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444200604 | 440 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_037349.1:g.48679120A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679120A>C Locations: - p.Asp440Ala (Ensembl:ENSBTAT00000024223) - c.1319A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481367811 | 442 | R>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_037349.1:g.48679126G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679126G>C Locations: - p.Arg442Thr (Ensembl:ENSBTAT00000024223) - c.1325G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461193818 | 442 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48679125A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679125A>T Locations: - p.Arg442Trp (Ensembl:ENSBTAT00000024223) - c.1324A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs446770248 | 443 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_037349.1:g.48679129T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679129T>G Locations: - p.Val443Gly (Ensembl:ENSBTAT00000024223) - c.1328T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459666914 | 446 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_037349.1:g.48679137T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679137T>C Locations: - p.Trp446Arg (Ensembl:ENSBTAT00000024223) - c.1336T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479828056 | 447 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037349.1:g.48679140C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679140C>G Locations: - p.Arg447Gly (Ensembl:ENSBTAT00000024223) - c.1339C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465251894 | 449 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679147C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679147C>A Locations: - p.Pro449His (Ensembl:ENSBTAT00000024223) - c.1346C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450988593 | 452 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_037349.1:g.48679156T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679156T>G Locations: - p.Leu452Arg (Ensembl:ENSBTAT00000024223) - c.1355T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467840248 | 454 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_037349.1:g.48679161C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679161C>G Locations: - p.Pro454Ala (Ensembl:ENSBTAT00000024223) - c.1360C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs436656984 | 455 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679164G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679164G>T Locations: - p.Gly455Cys (Ensembl:ENSBTAT00000024223) - c.1363G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs473713786 | 458 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48679173G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679173G>A Locations: - p.Asp458Asn (Ensembl:ENSBTAT00000024223) - c.1372G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs431911286 | 460 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_037349.1:g.48679180T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679180T>G Locations: - p.Val460Gly (Ensembl:ENSBTAT00000024223) - c.1379T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475499962 | 466 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.48679199G>C, NC_037349.1:g.48679199G>T Codon: ATG/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679199G>C, NC_037349.1:g.48679199G>T Locations: - p.Met466Ile (Ensembl:ENSBTAT00000024223) - c.1398G>C (Ensembl:ENSBTAT00000024223) - c.1398G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444188029 | 469 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037349.1:g.48679206T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679206T>A Locations: - p.Cys469Ser (Ensembl:ENSBTAT00000024223) - c.1405T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461130387 | 470 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037349.1:g.48679210A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679210A>C Locations: - p.Asn470Thr (Ensembl:ENSBTAT00000024223) - c.1409A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474855134 | 471 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48679213T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679213T>C Locations: - p.Leu471Pro (Ensembl:ENSBTAT00000024223) - c.1412T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460419203 | 472 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_037349.1:g.48679216A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679216A>C Locations: - p.Asn472Thr (Ensembl:ENSBTAT00000024223) - c.1415A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477356944 | 473 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037349.1:g.48679219T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679219T>C Locations: - p.Phe473Ser (Ensembl:ENSBTAT00000024223) - c.1418T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438756811 | 474 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679221A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679221A>C Locations: - p.Thr474Pro (Ensembl:ENSBTAT00000024223) - c.1420A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450925340 | 475 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48679225T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48679225T>A Locations: - p.Leu475Ter (Ensembl:ENSBTAT00000024223) - c.1424T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450925340 | 475 | L>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679225T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679225T>G Locations: - p.Leu475Trp (Ensembl:ENSBTAT00000024223) - c.1424T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481628857 | 476 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679228A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679228A>C Locations: - p.Asp476Ala (Ensembl:ENSBTAT00000024223) - c.1427A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467863737 | 476 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679227G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679227G>C Locations: - p.Asp476His (Ensembl:ENSBTAT00000024223) - c.1426G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs447009225 | 477 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679230C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679230C>G Locations: - p.Leu477Val (Ensembl:ENSBTAT00000024223) - c.1429C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs467245992 | 478 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679233T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679233T>C Locations: - p.Ser478Pro (Ensembl:ENSBTAT00000024223) - c.1432T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs452118563 | 479 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.48679236C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679236C>G Locations: - p.Arg479Gly (Ensembl:ENSBTAT00000024223) - c.1435C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454598027 | 481 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679242A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679242A>C Locations: - p.Asn481His (Ensembl:ENSBTAT00000024223) - c.1441A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474726814 | 481 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679243A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679243A>C Locations: - p.Asn481Thr (Ensembl:ENSBTAT00000024223) - c.1442A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440148711 | 482 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679246T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679246T>A Locations: - p.Leu482Gln (Ensembl:ENSBTAT00000024223) - c.1445T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440148711 | 482 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679246T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679246T>G Locations: - p.Leu482Arg (Ensembl:ENSBTAT00000024223) - c.1445T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470898680 | 483 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679249T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679249T>A Locations: - p.Val483Glu (Ensembl:ENSBTAT00000024223) - c.1448T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470898680 | 483 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679249T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679249T>G Locations: - p.Val483Gly (Ensembl:ENSBTAT00000024223) - c.1448T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs453888796 | 483 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679248G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679248G>C Locations: - p.Val483Leu (Ensembl:ENSBTAT00000024223) - c.1447G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458755078 | 484 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_037349.1:g.48679252C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679252C>A Locations: - p.Thr484Lys (Ensembl:ENSBTAT00000024223) - c.1451C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481993996 | 485 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679254A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679254A>C Locations: - p.Ile485Leu (Ensembl:ENSBTAT00000024223) - c.1453A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444412173 | 485 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679255T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679255T>C Locations: - p.Ile485Thr (Ensembl:ENSBTAT00000024223) - c.1454T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481576483 | 486 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48679259G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679259G>C Locations: - p.Gln486His (Ensembl:ENSBTAT00000024223) - c.1458G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461408487 | 486 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_037349.1:g.48679257C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679257C>A Locations: - p.Gln486Lys (Ensembl:ENSBTAT00000024223) - c.1456C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs447038647 | 487 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48679260C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679260C>A Locations: - p.Gln487Lys (Ensembl:ENSBTAT00000024223) - c.1459C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs446389652 | 488 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679264A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679264A>G Locations: - p.Glu488Gly (Ensembl:ENSBTAT00000024223) - c.1463A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477683561 | 488 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679263G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679263G>A Locations: - p.Glu488Lys (Ensembl:ENSBTAT00000024223) - c.1462G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454532877 | 489 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037349.1:g.48679268G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679268G>T Locations: - p.Met489Ile (Ensembl:ENSBTAT00000024223) - c.1467G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469697801 | 489 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48679266A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679266A>T Locations: - p.Met489Leu (Ensembl:ENSBTAT00000024223) - c.1465A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437558394 | 489 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679267T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679267T>G Locations: - p.Met489Arg (Ensembl:ENSBTAT00000024223) - c.1466T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469697801 | 489 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48679266A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679266A>G Locations: - p.Met489Val (Ensembl:ENSBTAT00000024223) - c.1465A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs468247759 | 490 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037349.1:g.48679271T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679271T>A Locations: - p.Phe490Leu (Ensembl:ENSBTAT00000024223) - c.1470T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433711712 | 491 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037349.1:g.48679272A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679272A>C Locations: - p.Thr491Pro (Ensembl:ENSBTAT00000024223) - c.1471A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs432967038 | 493 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679279T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679279T>C Locations: - p.Leu493Pro (Ensembl:ENSBTAT00000024223) - c.1478T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456240014 | 494 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679281T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679281T>C Locations: - p.Ser494Pro (Ensembl:ENSBTAT00000024223) - c.1480T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs476321088 | 495 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_037349.1:g.48679284C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679284C>G Locations: - p.Arg495Gly (Ensembl:ENSBTAT00000024223) - c.1483C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444348832 | 496 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679288T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679288T>C Locations: - p.Leu496Pro (Ensembl:ENSBTAT00000024223) - c.1487T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461356266 | 500 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_037349.1:g.48679299C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679299C>A Locations: - p.Arg500Ser (Ensembl:ENSBTAT00000024223) - c.1498C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475127053 | 506 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679318T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679318T>C Locations: - p.Ile506Thr (Ensembl:ENSBTAT00000024223) - c.1517T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440529667 | 507 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679321C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679321C>T Locations: - p.Ser507Leu (Ensembl:ENSBTAT00000024223) - c.1520C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs798469076 | 509 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679327C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679327C>G Locations: - p.Ala509Gly (Ensembl:ENSBTAT00000024223) - c.1526C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs446278827 | 513 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679339C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679339C>T Locations: - p.Ser513Phe (Ensembl:ENSBTAT00000024223) - c.1538C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs463210312 | 514 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679342A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679342A>C Locations: - p.Gln514Pro (Ensembl:ENSBTAT00000024223) - c.1541A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448053622 | 517 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037349.1:g.48679350C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679350C>G Locations: - p.Pro517Ala (Ensembl:ENSBTAT00000024223) - c.1549C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433645618 | 519 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037349.1:g.48679356A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679356A>C Locations: - p.Thr519Pro (Ensembl:ENSBTAT00000024223) - c.1555A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs447268569 | 523 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679369T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679369T>G Locations: - p.Val523Gly (Ensembl:ENSBTAT00000024223) - c.1568T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs432903965 | 525 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679376C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679376C>A Locations: - p.Asp525Glu (Ensembl:ENSBTAT00000024223) - c.1575C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456176586 | 527 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037349.1:g.48679380T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679380T>G Locations: - p.Ser527Ala (Ensembl:ENSBTAT00000024223) - c.1579T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs435499607 | 528 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679384A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679384A>C Locations: - p.His528Pro (Ensembl:ENSBTAT00000024223) - c.1583A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454906795 | 529 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679387A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679387A>C Locations: - p.Asn529Thr (Ensembl:ENSBTAT00000024223) - c.1586A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475039606 | 532 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_037349.1:g.48679395G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679395G>A Locations: - p.Asp532Asn (Ensembl:ENSBTAT00000024223) - c.1594G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440414291 | 533 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679398C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679398C>G Locations: - p.Leu533Val (Ensembl:ENSBTAT00000024223) - c.1597C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460566930 | 534 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679401T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679401T>A Locations: - p.Tyr534Asn (Ensembl:ENSBTAT00000024223) - c.1600T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs439786291 | 538 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48679414C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48679414C>A Locations: - p.Ser538Ter (Ensembl:ENSBTAT00000024223) - c.1613C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs463199731 | 539 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679417T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679417T>A Locations: - p.Phe539Tyr (Ensembl:ENSBTAT00000024223) - c.1616T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs483273898 | 540 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679419A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679419A>C Locations: - p.Thr540Pro (Ensembl:ENSBTAT00000024223) - c.1618A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs462471530 | 541 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679423A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679423A>C Locations: - p.Glu541Ala (Ensembl:ENSBTAT00000024223) - c.1622A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs478609753 | 541 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679424G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679424G>T Locations: - p.Glu541Asp (Ensembl:ENSBTAT00000024223) - c.1623G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448709626 | 541 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679422G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679422G>C Locations: - p.Glu541Gln (Ensembl:ENSBTAT00000024223) - c.1621G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs464042358 | 544 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_037349.1:g.48679431C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679431C>A Locations: - p.Gln544Lys (Ensembl:ENSBTAT00000024223) - c.1630C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs432891309 | 546 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679439G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679439G>C Locations: - p.Glu546Asp (Ensembl:ENSBTAT00000024223) - c.1638G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469846050 | 549 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679447A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679447A>G Locations: - p.Asp549Gly (Ensembl:ENSBTAT00000024223) - c.1646A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474525860 | 553 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679459A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679459A>C Locations: - p.Asn553Thr (Ensembl:ENSBTAT00000024223) - c.1658A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs435455700 | 556 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_037349.1:g.48679468C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679468C>A Locations: - p.Pro556His (Ensembl:ENSBTAT00000024223) - c.1667C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs455525200 | 557 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679470T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679470T>G Locations: - p.Phe557Val (Ensembl:ENSBTAT00000024223) - c.1669T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs466101345 | 558 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_037349.1:g.48679475C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679475C>A Locations: - p.Ser558Arg (Ensembl:ENSBTAT00000024223) - c.1674C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs717666097 | 569 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679506G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679506G>A Locations: - p.Val569Met (Ensembl:ENSBTAT00000024223) - c.1705G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs1116877590 | 573 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037349.1:g.48679519C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679519C>G Locations: - p.Pro573Arg (Ensembl:ENSBTAT00000024223) - c.1718C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433932592 | 577 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037349.1:g.48679531A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679531A>C Locations: - p.Tyr577Ser (Ensembl:ENSBTAT00000024223) - c.1730A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454127991 | 578 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679534T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679534T>G Locations: - p.Leu578Arg (Ensembl:ENSBTAT00000024223) - c.1733T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs439766000 | 579 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679536A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679536A>T Locations: - p.Ser579Cys (Ensembl:ENSBTAT00000024223) - c.1735A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456706160 | 580 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679540T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679540T>G Locations: - p.Leu580Arg (Ensembl:ENSBTAT00000024223) - c.1739T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442221076 | 581 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679542G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679542G>A Locations: - p.Ala581Thr (Ensembl:ENSBTAT00000024223) - c.1741G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs462380969 | 582 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48679546A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679546A>T Locations: - p.His582Leu (Ensembl:ENSBTAT00000024223) - c.1745A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479359938 | 582 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48679547C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679547C>A Locations: - p.His582Gln (Ensembl:ENSBTAT00000024223) - c.1746C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440789301 | 584 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: NC_037349.1:g.48679552G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679552G>A Locations: - p.Gly584Asp (Ensembl:ENSBTAT00000024223) - c.1751G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477693448 | 586 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48679558A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679558A>C Locations: - p.His586Pro (Ensembl:ENSBTAT00000024223) - c.1757A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs449722671 | 588 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679563C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679563C>T Locations: - p.Arg588Cys (Ensembl:ENSBTAT00000024223) - c.1762C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469731753 | 589 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679567T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679567T>A Locations: - p.Val589Glu (Ensembl:ENSBTAT00000024223) - c.1766T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs480442050 | 591 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: NC_037349.1:g.48679573A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679573A>G Locations: - p.Gln591Arg (Ensembl:ENSBTAT00000024223) - c.1772A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465979180 | 593 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679578C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679578C>T Locations: - p.Leu593Phe (Ensembl:ENSBTAT00000024223) - c.1777C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454115862 | 595 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679586C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679586C>A Locations: - p.Ser595Arg (Ensembl:ENSBTAT00000024223) - c.1785C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433175622 | 597 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679590T>G Codon: TCG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679590T>G Locations: - p.Ser597Ala (Ensembl:ENSBTAT00000024223) - c.1789T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442141749 | 602 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48679606A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679606A>C Locations: - p.Asp602Ala (Ensembl:ENSBTAT00000024223) - c.1805A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442141749 | 602 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_037349.1:g.48679606A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679606A>T Locations: - p.Asp602Val (Ensembl:ENSBTAT00000024223) - c.1805A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs476748252 | 602 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48679605G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679605G>T Locations: - p.Asp602Tyr (Ensembl:ENSBTAT00000024223) - c.1804G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs455961429 | 606 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679618A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679618A>T Locations: - p.Asn606Ile (Ensembl:ENSBTAT00000024223) - c.1817A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs472863555 | 607 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.48679620T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679620T>G Locations: - p.Ser607Ala (Ensembl:ENSBTAT00000024223) - c.1819T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs457557835 | 614 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48679643G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679643G>T Locations: - p.Glu614Asp (Ensembl:ENSBTAT00000024223) - c.1842G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477580982 | 616 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679648A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679648A>T Locations: - p.Asp616Val (Ensembl:ENSBTAT00000024223) - c.1847A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs443202906 | 620 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037349.1:g.48679660G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679660G>T Locations: - p.Cys620Phe (Ensembl:ENSBTAT00000024223) - c.1859G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs463245607 | 624 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679672G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679672G>T Locations: - p.Gly624Val (Ensembl:ENSBTAT00000024223) - c.1871G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs480351736 | 627 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48679682C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679682C>A Locations: - p.Asn627Lys (Ensembl:ENSBTAT00000024223) - c.1881C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448982680 | 633 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679698C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679698C>G Locations: - p.Leu633Val (Ensembl:ENSBTAT00000024223) - c.1897C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479736479 | 634 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679702C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679702C>G Locations: - p.Ser634Cys (Ensembl:ENSBTAT00000024223) - c.1901C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs466021748 | 634 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679701T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679701T>A Locations: - p.Ser634Thr (Ensembl:ENSBTAT00000024223) - c.1900T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465279391 | 636 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679708A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679708A>C Locations: - p.Asn636Thr (Ensembl:ENSBTAT00000024223) - c.1907A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433107807 | 637 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037349.1:g.48679711A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679711A>C Locations: - p.His637Pro (Ensembl:ENSBTAT00000024223) - c.1910A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470265972 | 639 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037349.1:g.48679717A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679717A>C Locations: - p.His639Pro (Ensembl:ENSBTAT00000024223) - c.1916A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs435723068 | 640 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48679719A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679719A>C Locations: - p.Thr640Pro (Ensembl:ENSBTAT00000024223) - c.1918A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs455839952 | 642 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_037349.1:g.48679726T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679726T>G Locations: - p.Leu642Arg (Ensembl:ENSBTAT00000024223) - c.1925T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs472867819 | 644 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037349.1:g.48679732G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679732G>A Locations: - p.Arg644His (Ensembl:ENSBTAT00000024223) - c.1931G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs472867819 | 644 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037349.1:g.48679732G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679732G>T Locations: - p.Arg644Leu (Ensembl:ENSBTAT00000024223) - c.1931G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs434975026 | 645 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037349.1:g.48679734C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679734C>G Locations: - p.His645Asp (Ensembl:ENSBTAT00000024223) - c.1933C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs451861152 | 645 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_037349.1:g.48679735A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679735A>C Locations: - p.His645Pro (Ensembl:ENSBTAT00000024223) - c.1934A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs471917133 | 645 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_037349.1:g.48679736C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679736C>A Locations: - p.His645Gln (Ensembl:ENSBTAT00000024223) - c.1935C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs443137476 | 646 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48679738T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679738T>G Locations: - p.Leu646Arg (Ensembl:ENSBTAT00000024223) - c.1937T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs463412376 | 648 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037349.1:g.48679744A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679744A>C Locations: - p.Asn648Thr (Ensembl:ENSBTAT00000024223) - c.1943A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459945394 | 657 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_037349.1:g.48679770C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679770C>T Locations: - p.Arg657Cys (Ensembl:ENSBTAT00000024223) - c.1969C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459945394 | 657 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_037349.1:g.48679770C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679770C>A Locations: - p.Arg657Ser (Ensembl:ENSBTAT00000024223) - c.1969C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442546937 | 660 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_037349.1:g.48679780A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679780A>G Locations: - p.Asp660Gly (Ensembl:ENSBTAT00000024223) - c.1979A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479623391 | 662 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_037349.1:g.48679787C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679787C>A Locations: - p.Asn662Lys (Ensembl:ENSBTAT00000024223) - c.1986C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459400126 | 662 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_037349.1:g.48679786A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679786A>C Locations: - p.Asn662Thr (Ensembl:ENSBTAT00000024223) - c.1985A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445064332 | 669 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.48679806A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679806A>C Locations: - p.Ser669Arg (Ensembl:ENSBTAT00000024223) - c.2005A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458784216 | 678 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48679833G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679833G>A Locations: - p.Glu678Lys (Ensembl:ENSBTAT00000024223) - c.2032G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470230694 | 694 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48679883C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679883C>G Locations: - p.Ser694Arg (Ensembl:ENSBTAT00000024223) - c.2082C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs449341971 | 700 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_037349.1:g.48679899C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679899C>G Locations: - p.Arg700Gly (Ensembl:ENSBTAT00000024223) - c.2098C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs466243361 | 700 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48679900G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679900G>C Locations: - p.Arg700Pro (Ensembl:ENSBTAT00000024223) - c.2099G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs434913328 | 704 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037349.1:g.48679911C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679911C>A Locations: - p.Leu704Met (Ensembl:ENSBTAT00000024223) - c.2110C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs451795930 | 715 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_037349.1:g.48679944A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679944A>C Locations: - p.Ile715Leu (Ensembl:ENSBTAT00000024223) - c.2143A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437499217 | 720 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037349.1:g.48679960T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48679960T>A Locations: - p.Val720Asp (Ensembl:ENSBTAT00000024223) - c.2159T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456863886 | 734 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037349.1:g.48680002C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680002C>A Locations: - p.Ala734Asp (Ensembl:ENSBTAT00000024223) - c.2201C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442407234 | 750 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680049C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680049C>A Locations: - p.Leu750Met (Ensembl:ENSBTAT00000024223) - c.2248C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459407332 | 751 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_037349.1:g.48680053A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680053A>G Locations: - p.Lys751Arg (Ensembl:ENSBTAT00000024223) - c.2252A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459407332 | 751 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_037349.1:g.48680053A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680053A>C Locations: - p.Lys751Thr (Ensembl:ENSBTAT00000024223) - c.2252A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs473094821 | 768 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680103T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680103T>G Locations: - p.Phe768Val (Ensembl:ENSBTAT00000024223) - c.2302T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438611775 | 769 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680107T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680107T>A Locations: - p.Val769Glu (Ensembl:ENSBTAT00000024223) - c.2306T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458768203 | 770 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680110A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680110A>T Locations: - p.Asp770Val (Ensembl:ENSBTAT00000024223) - c.2309A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450845595 | 772 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680116T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680116T>G Locations: - p.Leu772Arg (Ensembl:ENSBTAT00000024223) - c.2315T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461229451 | 775 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680124A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680124A>G Locations: - p.Arg775Gly (Ensembl:ENSBTAT00000024223) - c.2323A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs480617418 | 775 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_037349.1:g.48680125G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680125G>T Locations: - p.Arg775Ile (Ensembl:ENSBTAT00000024223) - c.2324G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs449201549 | 779 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_037349.1:g.48680136G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680136G>T Locations: - p.Val779Leu (Ensembl:ENSBTAT00000024223) - c.2335G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs479764246 | 780 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48680139C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680139C>G Locations: - p.Pro780Ala (Ensembl:ENSBTAT00000024223) - c.2338C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465434167 | 784 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680152G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680152G>T Locations: - p.Arg784Met (Ensembl:ENSBTAT00000024223) - c.2351G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445392277 | 784 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680151A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680151A>T Locations: - p.Arg784Trp (Ensembl:ENSBTAT00000024223) - c.2350A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437437616 | 787 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037349.1:g.48680160A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680160A>G Locations: - p.Thr787Ala (Ensembl:ENSBTAT00000024223) - c.2359A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs473080969 | 797 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48680190C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680190C>G Locations: - p.Arg797Gly (Ensembl:ENSBTAT00000024223) - c.2389C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438550680 | 798 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680195C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680195C>G Locations: - p.Ser798Arg (Ensembl:ENSBTAT00000024223) - c.2394C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs452300772 | 799 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48680196A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680196A>G Locations: - p.Ile799Val (Ensembl:ENSBTAT00000024223) - c.2395A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475573768 | 800 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48680201C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680201C>A Locations: - p.Phe800Leu (Ensembl:ENSBTAT00000024223) - c.2400C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461212870 | 804 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48680212T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680212T>G Locations: - p.Leu804Arg (Ensembl:ENSBTAT00000024223) - c.2411T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs459622531 | 807 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48680222C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48680222C>A Locations: - p.Cys807Ter (Ensembl:ENSBTAT00000024223) - c.2421C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs442810263 | 807 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680221G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680221G>T Locations: - p.Cys807Phe (Ensembl:ENSBTAT00000024223) - c.2420G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445331089 | 815 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_037349.1:g.48680245A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680245A>T Locations: - p.Asp815Val (Ensembl:ENSBTAT00000024223) - c.2444A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs465313429 | 820 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680259T>G Codon: TCG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680259T>G Locations: - p.Ser820Ala (Ensembl:ENSBTAT00000024223) - c.2458T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs450997241 | 824 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48680272T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680272T>G Locations: - p.Val824Gly (Ensembl:ENSBTAT00000024223) - c.2471T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs468090072 | 825 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.48680275C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680275C>A Locations: - p.Ala825Glu (Ensembl:ENSBTAT00000024223) - c.2474C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs436716538 | 826 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_037349.1:g.48680277C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680277C>G Locations: - p.Leu826Val (Ensembl:ENSBTAT00000024223) - c.2476C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs452856053 | 830 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037349.1:g.48680290T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680290T>G Locations: - p.Val830Gly (Ensembl:ENSBTAT00000024223) - c.2489T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs466594673 | 834 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_037349.1:g.48680303C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680303C>A Locations: - p.His834Gln (Ensembl:ENSBTAT00000024223) - c.2502C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs431970684 | 835 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_037349.1:g.48680305A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680305A>G Locations: - p.His835Arg (Ensembl:ENSBTAT00000024223) - c.2504A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444175277 | 846 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037349.1:g.48680339C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680339C>G Locations: - p.His846Gln (Ensembl:ENSBTAT00000024223) - c.2538C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454693390 | 847 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680341T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680341T>G Locations: - p.Leu847Arg (Ensembl:ENSBTAT00000024223) - c.2540T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474916886 | 848 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037349.1:g.48680344G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680344G>A Locations: - p.Cys848Tyr (Ensembl:ENSBTAT00000024223) - c.2543G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440329618 | 849 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037349.1:g.48680346C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680346C>G Locations: - p.Leu849Val (Ensembl:ENSBTAT00000024223) - c.2545C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438768970 | 861 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037349.1:g.48680383A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680383A>G Locations: - p.Glu861Gly (Ensembl:ENSBTAT00000024223) - c.2582A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458830802 | 864 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48680391C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680391C>A Locations: - p.Leu864Met (Ensembl:ENSBTAT00000024223) - c.2590C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs482425386 | 898 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037349.1:g.48680493C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680493C>T Locations: - p.Arg898Trp (Ensembl:ENSBTAT00000024223) - c.2692C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs451066657 | 906 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680518A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680518A>C Locations: - p.Glu906Ala (Ensembl:ENSBTAT00000024223) - c.2717A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461540192 | 906 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_037349.1:g.48680519G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680519G>C Locations: - p.Glu906Asp (Ensembl:ENSBTAT00000024223) - c.2718G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs447143113 | 911 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48680532C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680532C>G Locations: - p.Pro911Ala (Ensembl:ENSBTAT00000024223) - c.2731C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs431913627 | 913 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48680538A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680538A>G Locations: - p.Lys913Glu (Ensembl:ENSBTAT00000024223) - c.2737A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445669343 | 913 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680539A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680539A>C Locations: - p.Lys913Thr (Ensembl:ENSBTAT00000024223) - c.2738A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs469071259 | 914 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680541A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680541A>C Locations: - p.Thr914Pro (Ensembl:ENSBTAT00000024223) - c.2740A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454697891 | 916 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_037349.1:g.48680547T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680547T>G Locations: - p.Phe916Val (Ensembl:ENSBTAT00000024223) - c.2746T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs474837677 | 918 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680554A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680554A>C Locations: - p.Asn918Thr (Ensembl:ENSBTAT00000024223) - c.2753A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433792371 | 924 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680572A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680572A>C Locations: - p.Tyr924Ser (Ensembl:ENSBTAT00000024223) - c.2771A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs453838854 | 925 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_037349.1:g.48680574A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680574A>G Locations: - p.Ser925Gly (Ensembl:ENSBTAT00000024223) - c.2773A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs438756890 | 937 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_037349.1:g.48680611A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680611A>G Locations: - p.Asp937Gly (Ensembl:ENSBTAT00000024223) - c.2810A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470707405 | 937 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_037349.1:g.48680610G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680610G>A Locations: - p.Asp937Asn (Ensembl:ENSBTAT00000024223) - c.2809G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs458818746 | 939 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037349.1:g.48680616G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680616G>C Locations: - p.Val939Leu (Ensembl:ENSBTAT00000024223) - c.2815G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475931738 | 940 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680621C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680621C>A Locations: - p.Ser940Arg (Ensembl:ENSBTAT00000024223) - c.2820C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs444517766 | 941 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680623G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680623G>T Locations: - p.Gly941Val (Ensembl:ENSBTAT00000024223) - c.2822G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461473731 | 944 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680631C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680631C>T Locations: - p.Arg944Cys (Ensembl:ENSBTAT00000024223) - c.2830C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs481637987 | 946 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_037349.1:g.48680637A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680637A>G Locations: - p.Ser946Gly (Ensembl:ENSBTAT00000024223) - c.2836A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs447077658 | 948 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.48680643C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680643C>G Locations: - p.Leu948Val (Ensembl:ENSBTAT00000024223) - c.2842C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477745249 | 950 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680649G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680649G>C Locations: - p.Ala950Pro (Ensembl:ENSBTAT00000024223) - c.2848G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477745249 | 950 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680649G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680649G>T Locations: - p.Ala950Ser (Ensembl:ENSBTAT00000024223) - c.2848G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs445655435 | 953 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680658C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680658C>A Locations: - p.Arg953Ser (Ensembl:ENSBTAT00000024223) - c.2857C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs468986858 | 956 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_037349.1:g.48680669G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680669G>T Locations: - p.Glu956Asp (Ensembl:ENSBTAT00000024223) - c.2868G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437671710 | 959 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_037349.1:g.48680676A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680676A>C Locations: - p.Lys959Gln (Ensembl:ENSBTAT00000024223) - c.2875A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs448060088 | 960 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680680A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680680A>G Locations: - p.Asp960Gly (Ensembl:ENSBTAT00000024223) - c.2879A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs468312864 | 961 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680683T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680683T>C Locations: - p.Val961Ala (Ensembl:ENSBTAT00000024223) - c.2882T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433723793 | 962 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680686T>A Codon: GTA/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680686T>A Locations: - p.Val962Glu (Ensembl:ENSBTAT00000024223) - c.2885T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470695102 | 963 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.48680688G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680688G>T Locations: - p.Val963Leu (Ensembl:ENSBTAT00000024223) - c.2887G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs452365305 | 964 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680691C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680691C>G Locations: - p.Leu964Val (Ensembl:ENSBTAT00000024223) - c.2890C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475776746 | 965 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680694G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680694G>A Locations: - p.Val965Met (Ensembl:ENSBTAT00000024223) - c.2893G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs460786857 | 968 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037349.1:g.48680704G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680704G>T Locations: - p.Arg968Leu (Ensembl:ENSBTAT00000024223) - c.2903G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440640773 | 968 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_037349.1:g.48680703C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680703C>A Locations: - p.Arg968Ser (Ensembl:ENSBTAT00000024223) - c.2902C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477681634 | 970 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.95) Somatic: No Accession: NC_037349.1:g.48680710C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680710C>A Locations: - p.Ala970Asp (Ensembl:ENSBTAT00000024223) - c.2909C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs439960437 | 971 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_037349.1:g.48680712G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680712G>C Locations: - p.Ala971Pro (Ensembl:ENSBTAT00000024223) - c.2911G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs482652242 | 972 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48680716A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680716A>T Locations: - p.Tyr972Phe (Ensembl:ENSBTAT00000024223) - c.2915A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs478551930 | 974 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680721T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680721T>C Locations: - p.Ser974Pro (Ensembl:ENSBTAT00000024223) - c.2920T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs447383725 | 975 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680725G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680725G>C Locations: - p.Arg975Pro (Ensembl:ENSBTAT00000024223) - c.2924G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs432966899 | 976 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48680729C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48680729C>G Locations: - p.Tyr976Ter (Ensembl:ENSBTAT00000024223) - c.2928C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs464218124 | 976 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680728A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680728A>C Locations: - p.Tyr976Ser (Ensembl:ENSBTAT00000024223) - c.2927A>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470105992 | 977 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680731T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680731T>C Locations: - p.Val977Ala (Ensembl:ENSBTAT00000024223) - c.2930T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470105992 | 977 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680731T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680731T>G Locations: - p.Val977Gly (Ensembl:ENSBTAT00000024223) - c.2930T>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs456332532 | 977 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: NC_037349.1:g.48680730G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680730G>T Locations: - p.Val977Leu (Ensembl:ENSBTAT00000024223) - c.2929G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs437942270 | 981 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680744G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680744G>C Locations: - p.Gln981His (Ensembl:ENSBTAT00000024223) - c.2943G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454968357 | 983 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680749T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680749T>C Locations: - p.Leu983Pro (Ensembl:ENSBTAT00000024223) - c.2948T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs475101347 | 987 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_037349.1:g.48680761G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680761G>C Locations: - p.Ser987Thr (Ensembl:ENSBTAT00000024223) - c.2960G>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs454299930 | 991 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.48680774G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.48680774G>A Locations: - p.Trp991Ter (Ensembl:ENSBTAT00000024223) - c.2973G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs440577656 | 991 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680772T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680772T>C Locations: - p.Trp991Arg (Ensembl:ENSBTAT00000024223) - c.2971T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs439849577 | 993 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_037349.1:g.48680779A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680779A>G Locations: - p.His993Arg (Ensembl:ENSBTAT00000024223) - c.2978A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs463175020 | 995 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680784C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680784C>T Locations: - p.Pro995Ser (Ensembl:ENSBTAT00000024223) - c.2983C>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs483340634 | 997 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.48680790G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680790G>A Locations: - p.Gly997Ser (Ensembl:ENSBTAT00000024223) - c.2989G>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs441581607 | 998 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_037349.1:g.48680793C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680793C>G Locations: - p.Gln998Glu (Ensembl:ENSBTAT00000024223) - c.2992C>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs461790618 | 1000 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_037349.1:g.48680800G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680800G>T Locations: - p.Ser1000Ile (Ensembl:ENSBTAT00000024223) - c.2999G>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs478490477 | 1003 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037349.1:g.48680809C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680809C>A Locations: - p.Ala1003Asp (Ensembl:ENSBTAT00000024223) - c.3008C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs464105767 | 1005 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680815T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680815T>A Locations: - p.Leu1005Gln (Ensembl:ENSBTAT00000024223) - c.3014T>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs477764764 | 1007 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.48680821T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680821T>C Locations: - p.Ile1007Thr (Ensembl:ENSBTAT00000024223) - c.3020T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs470068281 | 1009 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.48680826C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680826C>A Locations: - p.Leu1009Met (Ensembl:ENSBTAT00000024223) - c.3025C>A (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs435519170 | 1015 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_037349.1:g.48680845A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680845A>T Locations: - p.His1015Leu (Ensembl:ENSBTAT00000024223) - c.3044A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs468597281 | 1020 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680860A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680860A>T Locations: - p.Asn1020Ile (Ensembl:ENSBTAT00000024223) - c.3059A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs433985195 | 1021 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.48680863T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680863T>C Locations: - p.Phe1021Ser (Ensembl:ENSBTAT00000024223) - c.3062T>C (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs471099792 | 1029 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037349.1:g.48680887A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680887A>G Locations: - p.Glu1029Gly (Ensembl:ENSBTAT00000024223) - c.3086A>G (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: | |||||||
rs471099792 | 1029 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037349.1:g.48680887A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.48680887A>T Locations: - p.Glu1029Val (Ensembl:ENSBTAT00000024223) - c.3086A>T (Ensembl:ENSBTAT00000024223) Source type: large scale study Cross-references: |