| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123325327G>A | CA16604794 | ADCY5 | c.760C>T (p.Arg254Trp) c.1048C>T (p.Arg350Trp) c.2083C>T (p.Arg695Trp) n.342C>T c.1033C>T (p.Arg345Trp) c.982C>T (p.Arg328Trp) c.1084C>T (p.Arg362Trp) c.994C>T (p.Arg332Trp) c.985C>T (p.Arg329Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123325327G= | CA1398346225 | ADCY5 | c.760C= (p.Arg254=) c.1048C= (p.Arg350=) c.2083C= (p.Arg695=) n.342C= c.1033C= (p.Arg345=) c.982C= (p.Arg328=) c.1084C= (p.Arg362=) c.994C= (p.Arg332=) c.985C= (p.Arg329=) | dbSNP |