| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435476G>A | CA6162263 | DHCR7 | c.1327C>T (p.Arg443Cys) c.1153C>T (p.Arg385Cys) c.1378C>T (p.Arg460Cys) c.1363C>T (p.Arg455Cys) c.*90C>T (n.*90C>T) n.1367C>T c.742C>T (p.Arg248Cys) c.1231C>T (p.Arg411Cys) c.828C>T (n.828C>T) c.577C>T (p.Arg193Cys) c.319+2336C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71435476G>C | CA381700830 | DHCR7 | c.1327C>G (p.Arg443Gly) c.1153C>G (p.Arg385Gly) c.1378C>G (p.Arg460Gly) c.1363C>G (p.Arg455Gly) c.*90C>G (n.*90C>G) n.1367C>G c.742C>G (p.Arg248Gly) c.1231C>G (p.Arg411Gly) c.828C>G (n.828C>G) c.577C>G (p.Arg193Gly) c.319+2336C>G | ClinVar dbSNP |
| 11 | g.71435476G= | CA1981486839 | DHCR7 | c.1327C= (p.Arg443=) c.1153C= (p.Arg385=) c.1378C= (p.Arg460=) c.1363C= (p.Arg455=) c.*90C= (n.*90C=) n.1367C= c.742C= (p.Arg248=) c.1231C= (p.Arg411=) c.828C= (n.828C=) c.577C= (p.Arg193=) c.319+2336C= | dbSNP |