| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124503172C>A | CA210018 | NR5A1 | c.151G>T (p.Glu51Ter) c.-18+122G>T (n.-18+122G>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.124503172C>T | CA5235552 | NR5A1 | c.151G>A (p.Glu51Lys) c.-18+122G>A (n.-18+122G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124503172C= | CA1878472946 | NR5A1 | c.151G= (p.Glu51=) c.-18+122G= (n.-18+122G=) | dbSNP |