| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.8536777C>T | CA10343585 | ANOS1 | c.1615G>A (p.Glu539Lys) n.160G>A c.1612G>A (p.Glu538Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8536777C>A | CA411987765 | ANOS1 | c.1615G>T (p.Glu539Ter) n.160G>T c.1612G>T (p.Glu538Ter) | ClinVar dbSNP gnomAD v4 |