| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435613G>A | CA6162291 | DHCR7 | c.1190C>T (p.Ser397Leu) c.1016C>T (p.Ser339Leu) c.1241C>T (p.Ser414Leu) c.1226C>T (p.Ser409Leu) c.1198C>T (p.Arg400Trp) n.1230C>T c.605C>T (p.Ser202Leu) c.1094C>T (p.Ser365Leu) c.691C>T (p.Arg231Trp) c.440C>T (p.Ser147Leu) c.319+2199C>T c.1324C>T (p.Arg442Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435613G= | CA1981486915 | DHCR7 | c.1190C= (p.Ser397=) c.1016C= (p.Ser339=) c.1241C= (p.Ser414=) c.1226C= (p.Ser409=) c.1198C= (p.Arg400=) n.1230C= c.605C= (p.Ser202=) c.1094C= (p.Ser365=) c.691C= (p.Arg231=) c.440C= (p.Ser147=) c.319+2199C= c.1324C= (p.Arg442=) | dbSNP |