| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71441400C>T | CA253945 | DHCR7 | c.453G>A (p.Trp151Ter) c.279G>A (p.Trp93Ter) c.489G>A (p.Trp163Ter) n.730G>A c.-133G>A (n.-133G>A) c.357G>A (p.Trp119Ter) | ClinVar dbSNP |
| 11 | g.71441400C= | CA1981489761 | DHCR7 | c.453G= (p.Trp151=) c.279G= (p.Trp93=) c.489G= (p.Trp163=) n.730G= c.-133G= (n.-133G=) c.357G= (p.Trp119=) | dbSNP |
| 11 | g.71441400C>G | CA381694646 | DHCR7 | c.453G>C (p.Trp151Cys) c.279G>C (p.Trp93Cys) c.489G>C (p.Trp163Cys) n.730G>C c.-133G>C (n.-133G>C) c.357G>C (p.Trp119Cys) | dbSNP gnomAD v4 |