| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124500568G>A | CA128717 | NR5A1 | c.392C>T (p.Pro131Leu) c.40-296C>T (n.40-296C>T) c.131C>T (p.Pro44Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500568G= | CA1878469361 | NR5A1 | c.392C= (p.Pro131=) c.40-296C= (n.40-296C=) c.131C= (p.Pro44=) | dbSNP |