| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124500326C>T | CA128718 | NR5A1 | c.634G>A (p.Gly212Ser) c.40-54G>A (n.40-54G>A) c.373G>A (p.Gly125Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500326C>A | CA374886490 | NR5A1 | c.634G>T (p.Gly212Cys) c.40-54G>T (n.40-54G>T) c.373G>T (p.Gly125Cys) | dbSNP gnomAD v4 |
| 9 | g.124500326C= | CA1878468654 | NR5A1 | c.634G= (p.Gly212=) c.40-54G= (n.40-54G=) c.373G= (p.Gly125=) | dbSNP |