A0AAA9TVF8 · A0AAA9TVF8_BOVIN
- ProteinDisintegrin and metalloproteinase domain-containing protein 10
- GeneADAM10
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids687 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs477518846 | 3 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51589330T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51589330T>G Locations: - p.Ser3Ala (Ensembl:ENSBTAT00000119009) - c.7T>G (Ensembl:ENSBTAT00000119009) Source type: large scale study Cross-references: | |||||||
rs450217227 | 6 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_037337.1:g.51584380G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51584380G>A Locations: - p.Arg6Gln (Ensembl:ENSBTAT00000119447) - c.17G>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs459692759 | 42 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037337.1:g.51599563C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037337.1:g.51599563C>G Locations: - p.Tyr42Ter (Ensembl:ENSBTAT00000119009) - c.126C>G (Ensembl:ENSBTAT00000119009) - p.Tyr42Ter (Ensembl:ENSBTAT00000119447) - c.126C>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs473401747 | 43 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_037337.1:g.51599565C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51599565C>T Locations: - p.Thr43Ile (Ensembl:ENSBTAT00000119009) - c.128C>T (Ensembl:ENSBTAT00000119009) - p.Thr43Ile (Ensembl:ENSBTAT00000119447) - c.128C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs459092585 | 45 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_037337.1:g.51599570C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51599570C>A Locations: - p.His45Asn (Ensembl:ENSBTAT00000119009) - c.133C>A (Ensembl:ENSBTAT00000119009) - p.His45Asn (Ensembl:ENSBTAT00000119447) - c.133C>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs444863690 | 49 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037337.1:g.51601969G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037337.1:g.51601969G>T Locations: - p.Glu49Ter (Ensembl:ENSBTAT00000119009) - c.145G>T (Ensembl:ENSBTAT00000119009) - p.Glu49Ter (Ensembl:ENSBTAT00000119447) - c.145G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs464941113 | 55 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51601988A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51601988A>G Locations: - p.His55Arg (Ensembl:ENSBTAT00000119009) - c.164A>G (Ensembl:ENSBTAT00000119009) - p.His55Arg (Ensembl:ENSBTAT00000119447) - c.164A>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs43625167 | 61 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51602006G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51602006G>C Locations: - p.Gly61Ala (Ensembl:ENSBTAT00000119009) - c.182G>C (Ensembl:ENSBTAT00000119009) - p.Gly61Ala (Ensembl:ENSBTAT00000119447) - c.182G>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs454141970 | 89 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_037337.1:g.51602090C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51602090C>A Locations: - p.Pro89Gln (Ensembl:ENSBTAT00000119009) - c.266C>A (Ensembl:ENSBTAT00000119009) - p.Pro89Gln (Ensembl:ENSBTAT00000119447) - c.266C>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs444269821 | 110 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51623654G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51623654G>T Locations: - p.Gly110Val (Ensembl:ENSBTAT00000119009) - c.329G>T (Ensembl:ENSBTAT00000119009) - p.Gly110Val (Ensembl:ENSBTAT00000119447) - c.329G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs465707007 | 111 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51623657G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51623657G>A Locations: - p.Gly111Asp (Ensembl:ENSBTAT00000119009) - c.332G>A (Ensembl:ENSBTAT00000119009) - p.Gly111Asp (Ensembl:ENSBTAT00000119447) - c.332G>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs458732557 | 141 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_037337.1:g.51634114G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51634114G>C Locations: - p.Ala141Pro (Ensembl:ENSBTAT00000119009) - c.421G>C (Ensembl:ENSBTAT00000119009) - p.Ala141Pro (Ensembl:ENSBTAT00000119447) - c.421G>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs721807265 | 143 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.86) Somatic: No Accession: NC_037337.1:g.51634120A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51634120A>G Locations: - p.Asn143Asp (Ensembl:ENSBTAT00000119009) - c.427A>G (Ensembl:ENSBTAT00000119009) - p.Asn143Asp (Ensembl:ENSBTAT00000119447) - c.427A>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs434089157 | 143 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_037337.1:g.51634122T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51634122T>G Locations: - p.Asn143Lys (Ensembl:ENSBTAT00000119009) - c.429T>G (Ensembl:ENSBTAT00000119009) - p.Asn143Lys (Ensembl:ENSBTAT00000119447) - c.429T>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs454220230 | 144 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_037337.1:g.51634123G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51634123G>A Locations: - p.Gly144Ser (Ensembl:ENSBTAT00000119009) - c.430G>A (Ensembl:ENSBTAT00000119009) - p.Gly144Ser (Ensembl:ENSBTAT00000119447) - c.430G>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs464772791 | 144 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_037337.1:g.51634124G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51634124G>T Locations: - p.Gly144Val (Ensembl:ENSBTAT00000119009) - c.431G>T (Ensembl:ENSBTAT00000119009) - p.Gly144Val (Ensembl:ENSBTAT00000119447) - c.431G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs456871827 | 145 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_037337.1:g.51634126C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51634126C>T Locations: - p.Pro145Ser (Ensembl:ENSBTAT00000119009) - c.433C>T (Ensembl:ENSBTAT00000119009) - p.Pro145Ser (Ensembl:ENSBTAT00000119447) - c.433C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs444077893 | 175 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51634217A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51634217A>C Locations: - p.Tyr175Ser (Ensembl:ENSBTAT00000119009) - c.524A>C (Ensembl:ENSBTAT00000119009) - p.Tyr175Ser (Ensembl:ENSBTAT00000119447) - c.524A>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs480104380 | 185 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51638067A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51638067A>T Locations: - p.Ile185Leu (Ensembl:ENSBTAT00000119009) - c.553A>T (Ensembl:ENSBTAT00000119009) - p.Ile185Leu (Ensembl:ENSBTAT00000119447) - c.553A>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs463983468 | 198 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_037337.1:g.51638107C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51638107C>T Locations: - p.Thr198Ile (Ensembl:ENSBTAT00000119009) - c.593C>T (Ensembl:ENSBTAT00000119009) - p.Thr198Ile (Ensembl:ENSBTAT00000119447) - c.593C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs434269657 | 279 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51648718T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51648718T>C Locations: - p.Ser279Pro (Ensembl:ENSBTAT00000119009) - c.835T>C (Ensembl:ENSBTAT00000119009) - p.Ser279Pro (Ensembl:ENSBTAT00000119447) - c.835T>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs456305629 | 332 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652380T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652380T>A Locations: - p.His332Gln (Ensembl:ENSBTAT00000119009) - c.996T>A (Ensembl:ENSBTAT00000119009) - p.His332Gln (Ensembl:ENSBTAT00000119447) - c.996T>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs441975726 | 333 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652382A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652382A>C Locations: - p.Asp333Ala (Ensembl:ENSBTAT00000119009) - c.998A>C (Ensembl:ENSBTAT00000119009) - p.Asp333Ala (Ensembl:ENSBTAT00000119447) - c.998A>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs476609852 | 333 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652381G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652381G>T Locations: - p.Asp333Tyr (Ensembl:ENSBTAT00000119009) - c.997G>T (Ensembl:ENSBTAT00000119009) - p.Asp333Tyr (Ensembl:ENSBTAT00000119447) - c.997G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs479112661 | 336 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_037337.1:g.51652391C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652391C>T Locations: - p.Thr336Ile (Ensembl:ENSBTAT00000119009) - c.1007C>T (Ensembl:ENSBTAT00000119009) - p.Thr336Ile (Ensembl:ENSBTAT00000119447) - c.1007C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs458325775 | 337 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037337.1:g.51652393G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037337.1:g.51652393G>T Locations: - p.Glu337Ter (Ensembl:ENSBTAT00000119009) - c.1009G>T (Ensembl:ENSBTAT00000119009) - p.Glu337Ter (Ensembl:ENSBTAT00000119447) - c.1009G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs478428854 | 340 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652402C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652402C>G Locations: - p.Pro340Ala (Ensembl:ENSBTAT00000119009) - c.1018C>G (Ensembl:ENSBTAT00000119009) - p.Pro340Ala (Ensembl:ENSBTAT00000119447) - c.1018C>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs448016803 | 343 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652412C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652412C>T Locations: - p.Ser343Phe (Ensembl:ENSBTAT00000119009) - c.1028C>T (Ensembl:ENSBTAT00000119009) - p.Ser343Phe (Ensembl:ENSBTAT00000119447) - c.1028C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs481004502 | 343 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652411T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652411T>A Locations: - p.Ser343Thr (Ensembl:ENSBTAT00000119009) - c.1027T>A (Ensembl:ENSBTAT00000119009) - p.Ser343Thr (Ensembl:ENSBTAT00000119447) - c.1027T>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs433659553 | 350 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652433A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652433A>G Locations: - p.Glu350Gly (Ensembl:ENSBTAT00000119009) - c.1049A>G (Ensembl:ENSBTAT00000119009) - p.Glu350Gly (Ensembl:ENSBTAT00000119447) - c.1049A>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs453728350 | 351 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_037337.1:g.51652437T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652437T>A Locations: - p.Asn351Lys (Ensembl:ENSBTAT00000119009) - c.1053T>A (Ensembl:ENSBTAT00000119009) - p.Asn351Lys (Ensembl:ENSBTAT00000119447) - c.1053T>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs464171532 | 352 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652438G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652438G>T Locations: - p.Gly352Cys (Ensembl:ENSBTAT00000119009) - c.1054G>T (Ensembl:ENSBTAT00000119009) - p.Gly352Cys (Ensembl:ENSBTAT00000119447) - c.1054G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs432983537 | 354 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_037337.1:g.51652445A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652445A>T Locations: - p.Tyr354Phe (Ensembl:ENSBTAT00000119009) - c.1061A>T (Ensembl:ENSBTAT00000119009) - p.Tyr354Phe (Ensembl:ENSBTAT00000119447) - c.1061A>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs456194945 | 355 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_037337.1:g.51652447A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652447A>C Locations: - p.Ile355Leu (Ensembl:ENSBTAT00000119009) - c.1063A>C (Ensembl:ENSBTAT00000119009) - p.Ile355Leu (Ensembl:ENSBTAT00000119447) - c.1063A>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs476518803 | 356 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652450A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652450A>C Locations: - p.Met356Leu (Ensembl:ENSBTAT00000119009) - c.1066A>C (Ensembl:ENSBTAT00000119009) - p.Met356Leu (Ensembl:ENSBTAT00000119447) - c.1066A>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs441900898 | 357 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652453T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652453T>G Locations: - p.Tyr357Asp (Ensembl:ENSBTAT00000119009) - c.1069T>G (Ensembl:ENSBTAT00000119009) - p.Tyr357Asp (Ensembl:ENSBTAT00000119447) - c.1069T>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs455708370 | 357 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_037337.1:g.51652454A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652454A>T Locations: - p.Tyr357Phe (Ensembl:ENSBTAT00000119009) - c.1070A>T (Ensembl:ENSBTAT00000119009) - p.Tyr357Phe (Ensembl:ENSBTAT00000119447) - c.1070A>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs441317937 | 380 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51652522A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51652522A>C Locations: - p.Ser380Arg (Ensembl:ENSBTAT00000119009) - c.1138A>C (Ensembl:ENSBTAT00000119009) - p.Ser380Arg (Ensembl:ENSBTAT00000119447) - c.1138A>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs464037901 | 403 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51659876A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51659876A>G Locations: - p.Met403Val (Ensembl:ENSBTAT00000119009) - c.1207A>G (Ensembl:ENSBTAT00000119009) - p.Met403Val (Ensembl:ENSBTAT00000119447) - c.1207A>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs436511855 | 404 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51659880T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51659880T>G Locations: - p.Val404Gly (Ensembl:ENSBTAT00000119009) - c.1211T>G (Ensembl:ENSBTAT00000119009) - p.Val404Gly (Ensembl:ENSBTAT00000119447) - c.1211T>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs453345846 | 405 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037337.1:g.51659882G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037337.1:g.51659882G>T Locations: - p.Glu405Ter (Ensembl:ENSBTAT00000119009) - c.1213G>T (Ensembl:ENSBTAT00000119009) - p.Glu405Ter (Ensembl:ENSBTAT00000119447) - c.1213G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs473435274 | 405 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51659883A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51659883A>C Locations: - p.Glu405Ala (Ensembl:ENSBTAT00000119009) - c.1214A>C (Ensembl:ENSBTAT00000119009) - p.Glu405Ala (Ensembl:ENSBTAT00000119447) - c.1214A>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs439062151 | 405 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_037337.1:g.51659884A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51659884A>T Locations: - p.Glu405Asp (Ensembl:ENSBTAT00000119009) - c.1215A>T (Ensembl:ENSBTAT00000119009) - p.Glu405Asp (Ensembl:ENSBTAT00000119447) - c.1215A>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs522118584 | 429 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_037337.1:g.51659954C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51659954C>T Locations: - p.Pro429Ser (Ensembl:ENSBTAT00000119009) - c.1285C>T (Ensembl:ENSBTAT00000119009) - p.Pro429Ser (Ensembl:ENSBTAT00000119447) - c.1285C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs444800895 | 437 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51659980A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51659980A>T Locations: - p.Lys437Asn (Ensembl:ENSBTAT00000119009) - c.1311A>T (Ensembl:ENSBTAT00000119009) - p.Lys437Asn (Ensembl:ENSBTAT00000119447) - c.1311A>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs432474038 | 445 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51662041G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51662041G>T Locations: - p.Ser445Ile (Ensembl:ENSBTAT00000119009) - c.1334G>T (Ensembl:ENSBTAT00000119009) - p.Ser445Ile (Ensembl:ENSBTAT00000119447) - c.1334G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs469637847 | 446 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037337.1:g.51662043C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037337.1:g.51662043C>T Locations: - p.Gln446Ter (Ensembl:ENSBTAT00000119009) - c.1336C>T (Ensembl:ENSBTAT00000119009) - p.Gln446Ter (Ensembl:ENSBTAT00000119447) - c.1336C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs438263732 | 452 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_037337.1:g.51662061G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51662061G>T Locations: - p.Ala452Ser (Ensembl:ENSBTAT00000119009) - c.1354G>T (Ensembl:ENSBTAT00000119009) - p.Ala452Ser (Ensembl:ENSBTAT00000119447) - c.1354G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs455272639 | 482 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51662151T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51662151T>C Locations: - p.Cys482Arg (Ensembl:ENSBTAT00000119009) - c.1444T>C (Ensembl:ENSBTAT00000119009) - p.Cys482Arg (Ensembl:ENSBTAT00000119447) - c.1444T>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs473793323 | 483 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51662154C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51662154C>A Locations: - p.Pro483Thr (Ensembl:ENSBTAT00000119009) - c.1447C>A (Ensembl:ENSBTAT00000119009) - p.Pro483Thr (Ensembl:ENSBTAT00000119447) - c.1447C>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs435934061 | 502 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_037337.1:g.51662213T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51662213T>G Locations: - p.Ile502Met (Ensembl:ENSBTAT00000119009) - c.1506T>G (Ensembl:ENSBTAT00000119009) - p.Ile502Met (Ensembl:ENSBTAT00000119447) - c.1506T>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs480639304 | 635 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51675094A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51675094A>T Locations: - p.Ile635Phe (Ensembl:ENSBTAT00000119009) - c.1903A>T (Ensembl:ENSBTAT00000119009) - p.Ile635Phe (Ensembl:ENSBTAT00000119447) - c.1903A>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs475714793 | 642 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51675116C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51675116C>G Locations: - p.Thr642Ser (Ensembl:ENSBTAT00000119009) - c.1925C>G (Ensembl:ENSBTAT00000119009) - p.Thr642Ser (Ensembl:ENSBTAT00000119447) - c.1925C>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs210030647 | 650 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_037337.1:g.51675139C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51675139C>G Locations: - p.Pro650Ala (Ensembl:ENSBTAT00000119009) - c.1948C>G (Ensembl:ENSBTAT00000119009) - p.Pro650Ala (Ensembl:ENSBTAT00000119447) - c.1948C>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs478806504 | 662 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_037337.1:g.51677025A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677025A>G Locations: - p.Arg662Gly (Ensembl:ENSBTAT00000119009) - c.1984A>G (Ensembl:ENSBTAT00000119009) - p.Arg662Gly (Ensembl:ENSBTAT00000119447) - c.1984A>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs447449833 | 668 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_037337.1:g.51677043A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677043A>G Locations: - p.Ile668Val (Ensembl:ENSBTAT00000119009) - c.2002A>G (Ensembl:ENSBTAT00000119009) - p.Ile668Val (Ensembl:ENSBTAT00000119447) - c.2002A>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs464393075 | 669 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_037337.1:g.51677046C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677046C>A Locations: - p.Gln669Lys (Ensembl:ENSBTAT00000119009) - c.2005C>A (Ensembl:ENSBTAT00000119009) - p.Gln669Lys (Ensembl:ENSBTAT00000119447) - c.2005C>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs433084224 | 670 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_037337.1:g.51677049C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677049C>A Locations: - p.Gln670Lys (Ensembl:ENSBTAT00000119009) - c.2008C>A (Ensembl:ENSBTAT00000119009) - p.Gln670Lys (Ensembl:ENSBTAT00000119447) - c.2008C>A (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs456450378 | 672 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_037337.1:g.51677057G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677057G>T Locations: - p.Gln672His (Ensembl:ENSBTAT00000119009) - c.2016G>T (Ensembl:ENSBTAT00000119009) - p.Gln672His (Ensembl:ENSBTAT00000119447) - c.2016G>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs435670443 | 676 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_037337.1:g.51677067C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677067C>T Locations: - p.Pro676Ser (Ensembl:ENSBTAT00000119009) - c.2026C>T (Ensembl:ENSBTAT00000119009) - p.Pro676Ser (Ensembl:ENSBTAT00000119447) - c.2026C>T (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs472692387 | 677 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51677070C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677070C>G Locations: - p.Arg677Gly (Ensembl:ENSBTAT00000119009) - c.2029C>G (Ensembl:ENSBTAT00000119009) - p.Arg677Gly (Ensembl:ENSBTAT00000119447) - c.2029C>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs441366868 | 679 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037337.1:g.51677076A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677076A>G Locations: - p.Ser679Gly (Ensembl:ENSBTAT00000119009) - c.2035A>G (Ensembl:ENSBTAT00000119009) - p.Ser679Gly (Ensembl:ENSBTAT00000119447) - c.2035A>G (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: | |||||||
rs451895776 | 684 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_037337.1:g.51677092A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037337.1:g.51677092A>C Locations: - p.His684Pro (Ensembl:ENSBTAT00000119009) - c.2051A>C (Ensembl:ENSBTAT00000119009) - p.His684Pro (Ensembl:ENSBTAT00000119447) - c.2051A>C (Ensembl:ENSBTAT00000119447) Source type: large scale study Cross-references: |