Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80117075A>G | CA8815679 | GAA | c.2297A>G (p.Tyr766Cys) c.*435A>G (n.*435A>G) c.716A>G n.250A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80117075A>C | CA8815680 | GAA | c.2297A>C (p.Tyr766Ser) c.*435A>C (n.*435A>C) c.716A>C n.250A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |