| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435593G>A | CA340615 | DHCR7 | c.1210C>T (p.Arg404Cys) c.1036C>T (p.Arg346Cys) c.1261C>T (p.Arg421Cys) c.1246C>T (p.Arg416Cys) c.1218C>T (p.Pro406=) n.1250C>T c.625C>T (p.Arg209Cys) c.1114C>T (p.Arg372Cys) c.711C>T (p.Pro237=) c.460C>T (p.Arg154Cys) c.319+2219C>T c.1344C>T (p.Pro448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435593G>C | CA381701468 | DHCR7 | c.1210C>G (p.Arg404Gly) c.1036C>G (p.Arg346Gly) c.1261C>G (p.Arg421Gly) c.1246C>G (p.Arg416Gly) c.1218C>G (p.Pro406=) n.1250C>G c.625C>G (p.Arg209Gly) c.1114C>G (p.Arg372Gly) c.711C>G (p.Pro237=) c.460C>G (p.Arg154Gly) c.319+2219C>G c.1344C>G (p.Pro448=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71435593G>T | CA381701470 | DHCR7 | c.1210C>A (p.Arg404Ser) c.1036C>A (p.Arg346Ser) c.1261C>A (p.Arg421Ser) c.1246C>A (p.Arg416Ser) c.1218C>A (p.Pro406=) n.1250C>A c.625C>A (p.Arg209Ser) c.1114C>A (p.Arg372Ser) c.711C>A (p.Pro237=) c.460C>A (p.Arg154Ser) c.319+2219C>A c.1344C>A (p.Pro448=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |