| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71442349A>G | CA224280150 | DHCR7 | c.326T>C (p.Leu109Pro) c.152T>C (p.Leu51Pro) c.362T>C (p.Leu121Pro) n.603T>C c.-260T>C (n.-260T>C) c.230T>C (p.Leu77Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71442349A= | CA1981490250 | DHCR7 | c.326T= (p.Leu109=) c.152T= (p.Leu51=) c.362T= (p.Leu121=) n.603T= c.-260T= (n.-260T=) c.230T= (p.Leu77=) | dbSNP |