| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124500196C>T | CA199728689 | NR5A1 | c.764G>A (p.Arg255His) c.116G>A (p.Arg39His) c.503G>A (p.Arg168His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500196C>A | CA122710 | NR5A1 | c.764G>T (p.Arg255Leu) c.116G>T (p.Arg39Leu) c.503G>T (p.Arg168Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.124500196C= | CA1878468222 | NR5A1 | c.764G= (p.Arg255=) c.116G= (p.Arg39=) c.503G= (p.Arg168=) | dbSNP |