| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124493083G>A | CA16042654 | NR5A1 | c.937C>T (p.Arg313Cys) c.289C>T (p.Arg97Cys) c.871-1855C>T (n.871-1855C>T) c.676C>T (p.Arg226Cys) c.870+7007C>T (n.870+7007C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.124493083G= | CA1878461922 | NR5A1 | c.937C= (p.Arg313=) c.289C= (p.Arg97=) c.871-1855C= (n.871-1855C=) c.676C= (p.Arg226=) c.870+7007C= (n.870+7007C=) | dbSNP |