| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444129T>A | CA6162669 | DHCR7 | c.185A>T (p.Asp62Val) c.11A>T (p.Asp4Val) n.462A>T c.-333-68A>T (n.-333-68A>T) c.99-10A>T (n.99-10A>T) c.125A>T (p.Asp42Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444129T= | CA1981491076 | DHCR7 | c.185A= (p.Asp62=) c.11A= (p.Asp4=) n.462A= c.-333-68A= (n.-333-68A=) c.99-10A= (n.99-10A=) c.125A= (p.Asp42=) | dbSNP |