| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435827C>A | CA340609 | DHCR7 | c.976G>T (p.Val326Leu) c.802G>T (p.Val268Leu) c.1027G>T (p.Val343Leu) c.1012G>T (p.Val338Leu) c.984G>T (p.Trp328Cys) n.1016G>T c.391G>T (p.Val131Leu) c.880G>T (p.Val294Leu) c.477G>T (p.Trp159Cys) c.226G>T (p.Val76Leu) c.319+1985G>T c.1110G>T (p.Trp370Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435827C= | CA1981487047 | DHCR7 | c.976G= (p.Val326=) c.802G= (p.Val268=) c.1027G= (p.Val343=) c.1012G= (p.Val338=) c.984G= (p.Trp328=) n.1016G= c.391G= (p.Val131=) c.880G= (p.Val294=) c.477G= (p.Trp159=) c.226G= (p.Val76=) c.319+1985G= c.1110G= (p.Trp370=) | dbSNP |