Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.16175934C>T | CA394886969 | ABCC6 | c.2643G>A (p.Arg881=) c.2468G>A (p.Gly823Glu) n.130G>A c.2610G>A (p.Arg870=) c.2301G>A (p.Arg767=) c.2650G>A (p.Glu884Lys) n.2878G>A n.2879G>A n.2505G>A c.2475G>A (p.Arg825=) c.2679G>A (p.Arg893=) n.2824G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.16175934C>A | CA7925845 | ABCC6 | c.2643G>T (p.Arg881Ser) c.2468G>T (p.Gly823Val) n.130G>T c.2610G>T (p.Arg870Ser) c.2301G>T (p.Arg767Ser) c.2650G>T (p.Glu884Ter) n.2878G>T n.2879G>T n.2505G>T c.2475G>T (p.Arg825Ser) c.2679G>T (p.Arg893Ser) n.2824G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |