| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23348844C>G | CA119969 | SCNN1B | c.245C>G (p.Ser82Cys) c.380C>G (p.Ser127Cys) n.50C>G n.431C>G c.278C>G (p.Ser93Cys) c.263C>G (p.Ser88Cys) c.302C>G (p.Ser101Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23348844C= | CA2213298464 | SCNN1B | c.245C= (p.Ser82=) c.380C= (p.Ser127=) n.50C= n.431C= c.278C= (p.Ser93=) c.263C= (p.Ser88=) c.302C= (p.Ser101=) | dbSNP |