| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.152869040A>G | CA341814 | NSDHL | c.1046A>G (p.Tyr349Cys) c.1094A>G (p.Tyr365Cys) | ClinVar dbSNP |
| X | g.152869040A>C | CA10544898 | NSDHL | c.1046A>C (p.Tyr349Ser) c.1094A>C (p.Tyr365Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152869040A= | CA2466154458 | NSDHL | c.1046A= (p.Tyr349=) c.1094A= (p.Tyr365=) | dbSNP |