| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6374543G>A | CA120276 | SCNN1A | c.241C>T (p.Arg81Cys) c.418C>T (p.Arg140Cys) n.322C>T c.304C>T (p.Arg102Cys) n.513C>T n.82+810C>T n.506C>T n.481C>T n.377C>T c.310C>T (p.Arg104Cys) n.245C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.6374543G>C | CA383559718 | SCNN1A | c.241C>G (p.Arg81Gly) c.418C>G (p.Arg140Gly) n.322C>G c.304C>G (p.Arg102Gly) n.513C>G n.82+810C>G n.506C>G n.481C>G n.377C>G c.310C>G (p.Arg104Gly) n.245C>G | dbSNP gnomAD v4 |
| 12 | g.6374543G= | CA2014045551 | SCNN1A | c.241C= (p.Arg81=) c.418C= (p.Arg140=) n.322C= c.304C= (p.Arg102=) n.513C= n.82+810C= n.506C= n.481C= n.377C= c.310C= (p.Arg104=) n.245C= | dbSNP |