| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435749G>A | CA340612 | DHCR7 | c.1054C>T (p.Arg352Trp) c.880C>T (p.Arg294Trp) c.1105C>T (p.Arg369Trp) c.1090C>T (p.Arg364Trp) c.1062C>T (p.Ser354=) n.1094C>T c.469C>T (p.Arg157Trp) c.958C>T (p.Arg320Trp) c.555C>T (p.Ser185=) c.304C>T (p.Arg102Trp) c.319+2063C>T c.1188C>T (p.Ser396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435749G= | CA1981487004 | DHCR7 | c.1054C= (p.Arg352=) c.880C= (p.Arg294=) c.1105C= (p.Arg369=) c.1090C= (p.Arg364=) c.1062C= (p.Ser354=) n.1094C= c.469C= (p.Arg157=) c.958C= (p.Arg320=) c.555C= (p.Ser185=) c.304C= (p.Arg102=) c.319+2063C= c.1188C= (p.Ser396=) | dbSNP |