Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47284512T>G | CA291224645 | ITGB3 | c.431T>G (p.Met144Arg) c.396T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284512T= | CA2262605302 | ITGB3 | c.431T= (p.Met144=) c.396T= | dbSNP |
17 | g.47284512T>A | CA400021927 | ITGB3 | c.431T>A (p.Met144Lys) c.396T>A | dbSNP gnomAD v4 |