| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124482934A>C | CA279017 | NR5A1 | c.1210T>G (p.Tyr404Asp) c.562T>G (p.Tyr188Asp) c.1090T>G (p.Tyr364Asp) c.949T>G (p.Tyr317Asp) c.*66T>G (n.*66T>G) | ClinVar dbSNP |
| 9 | g.124482934A= | CA1878455201 | NR5A1 | c.1210T= (p.Tyr404=) c.562T= (p.Tyr188=) c.1090T= (p.Tyr364=) c.949T= (p.Tyr317=) c.*66T= (n.*66T=) | dbSNP |