| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30308257C>G | CA412546472 | NR0B1 | c.1107G>C (p.Trp369Cys) c.222G>C (p.Trp74Cys) | dbSNP gnomAD v4 |
| X | g.30308257C>T | CA255617 | NR0B1 | c.1107G>A (p.Trp369Ter) c.222G>A (p.Trp74Ter) | ClinVar dbSNP |
| X | g.30308257C= | CA2422040384 | NR0B1 | c.1107G= (p.Trp369=) c.222G= (p.Trp74=) | dbSNP |