| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71441347G>A | CA341824 | DHCR7 | c.506C>T (p.Ser169Leu) c.332C>T (p.Ser111Leu) c.542C>T (p.Ser181Leu) n.783C>T c.-80C>T (n.-80C>T) c.410C>T (p.Ser137Leu) n.1C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71441347G>C | CA6162547 | DHCR7 | c.506C>G (p.Ser169Trp) c.332C>G (p.Ser111Trp) c.542C>G (p.Ser181Trp) n.783C>G c.-80C>G (n.-80C>G) c.410C>G (p.Ser137Trp) n.1C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |