| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71441383A>G | CA6162556 | DHCR7 | c.470T>C (p.Leu157Pro) c.296T>C (p.Leu99Pro) c.506T>C (p.Leu169Pro) n.747T>C c.-116T>C (n.-116T>C) c.374T>C (p.Leu125Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71441383A= | CA1981489751 | DHCR7 | c.470T= (p.Leu157=) c.296T= (p.Leu99=) c.506T= (p.Leu169=) n.747T= c.-116T= (n.-116T=) c.374T= (p.Leu125=) | dbSNP |