| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435822G>T | CA16041549 | DHCR7 | c.981C>A (p.Tyr327Ter) c.807C>A (p.Tyr269Ter) c.1032C>A (p.Tyr344Ter) c.1017C>A (p.Tyr339Ter) c.989C>A (p.Thr330Asn) n.1021C>A c.396C>A (p.Tyr132Ter) c.885C>A (p.Tyr295Ter) c.482C>A (p.Thr161Asn) c.231C>A (p.Tyr77Ter) c.319+1990C>A c.1115C>A (p.Thr372Asn) | ClinVar dbSNP |
| 11 | g.71435822G= | CA1981487045 | DHCR7 | c.981C= (p.Tyr327=) c.807C= (p.Tyr269=) c.1032C= (p.Tyr344=) c.1017C= (p.Tyr339=) c.989C= (p.Thr330=) n.1021C= c.396C= (p.Tyr132=) c.885C= (p.Tyr295=) c.482C= (p.Thr161=) c.231C= (p.Tyr77=) c.319+1990C= c.1115C= (p.Thr372=) | dbSNP |