| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444165G>T | CA224280894 | DHCR7 | c.149C>A (p.Ala50Asp) c.-26C>A (n.-26C>A) n.426C>A c.-333-104C>A (n.-333-104C>A) c.99-46C>A (n.99-46C>A) c.89C>A (p.Ala30Asp) | dbSNP |
| 11 | g.71444165G>A | CA381696657 | DHCR7 | c.149C>T (p.Ala50Val) c.-26C>T (n.-26C>T) n.426C>T c.-333-104C>T (n.-333-104C>T) c.99-46C>T (n.99-46C>T) c.89C>T (p.Ala30Val) | dbSNP gnomAD v2 gnomAD v4 |