| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124482834A>T | CA122718 | NR5A1 | c.1310T>A (p.Leu437Gln) c.662T>A (p.Leu221Gln) c.1190T>A (p.Leu397Gln) c.1049T>A (p.Leu350Gln) | ClinVar dbSNP |
| 9 | g.124482834A= | CA1878455062 | NR5A1 | c.1310T= (p.Leu437=) c.662T= (p.Leu221=) c.1190T= (p.Leu397=) c.1049T= (p.Leu350=) | dbSNP |