| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23348708G>A | CA119959 | SCNN1B | c.109G>A (p.Gly37Ser) c.244G>A (p.Gly82Ser) n.295G>A c.142G>A (p.Gly48Ser) c.127G>A (p.Gly43Ser) c.166G>A (p.Gly56Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23348708G= | CA2213298260 | SCNN1B | c.109G= (p.Gly37=) c.244G= (p.Gly82=) n.295G= c.142G= (p.Gly48=) c.127G= (p.Gly43=) c.166G= (p.Gly56=) | dbSNP |