| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124500592C>G | CA034488 | NR5A1 | c.368G>C (p.Gly123Ala) c.40-320G>C (n.40-320G>C) c.107G>C (p.Gly36Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500592C>T | CA374888355 | NR5A1 | c.368G>A (p.Gly123Glu) c.40-320G>A (n.40-320G>A) c.107G>A (p.Gly36Glu) | dbSNP gnomAD v2 gnomAD v4 |