| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71441401C>G | CA224279872 | DHCR7 | c.452G>C (p.Trp151Ser) c.278G>C (p.Trp93Ser) c.488G>C (p.Trp163Ser) n.729G>C c.-134G>C (n.-134G>C) c.356G>C (p.Trp119Ser) | dbSNP |
| 11 | g.71441401C>T | CA221671 | DHCR7 | c.452G>A (p.Trp151Ter) c.278G>A (p.Trp93Ter) c.488G>A (p.Trp163Ter) n.729G>A c.-134G>A (n.-134G>A) c.356G>A (p.Trp119Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71441401C>A | CA381694647 | DHCR7 | c.452G>T (p.Trp151Leu) c.278G>T (p.Trp93Leu) c.488G>T (p.Trp163Leu) n.729G>T c.-134G>T (n.-134G>T) c.356G>T (p.Trp119Leu) | dbSNP gnomAD v4 |
| 11 | g.71441401C= | CA1981489762 | DHCR7 | c.452G= (p.Trp151=) c.278G= (p.Trp93=) c.488G= (p.Trp163=) n.729G= c.-134G= (n.-134G=) c.356G= (p.Trp119=) | dbSNP |