| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444111A>G | CA224280858 | DHCR7 | c.203T>C (p.Leu68Pro) c.29T>C (p.Leu10Pro) n.480T>C c.-333-50T>C (n.-333-50T>C) c.107T>C (p.Leu36Pro) c.143T>C (p.Leu48Pro) | dbSNP gnomAD v4 |
| 11 | g.71444111A= | CA1981491068 | DHCR7 | c.203T= (p.Leu68=) c.29T= (p.Leu10=) n.480T= c.-333-50T= (n.-333-50T=) c.107T= (p.Leu36=) c.143T= (p.Leu48=) | dbSNP |