Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.186620776G>A | CA2745077 | AHSG | c.950G>A (p.Arg317His) c.953G>A (p.Arg318His) c.947G>A (p.Arg316His) c.866G>A (p.Arg289His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.186620776G>T | CA355715887 | AHSG | c.950G>T (p.Arg317Leu) c.953G>T (p.Arg318Leu) c.947G>T (p.Arg316Leu) c.866G>T (p.Arg289Leu) | dbSNP gnomAD v2 gnomAD v4 |