| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124493143C>T | CA122720 | NR5A1 | c.877G>A (p.Asp293Asn) c.229G>A (p.Asp77Asn) c.871-1915G>A (n.871-1915G>A) c.616G>A (p.Asp206Asn) c.870+6947G>A (n.870+6947G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.124493143C= | CA1878461938 | NR5A1 | c.877G= (p.Asp293=) c.229G= (p.Asp77=) c.871-1915G= (n.871-1915G=) c.616G= (p.Asp206=) c.870+6947G= (n.870+6947G=) | dbSNP |