| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23367959G>A | CA119965 | SCNN1B | c.880G>A (p.Gly294Ser) c.1015G>A (p.Gly339Ser) c.777-3340G>A (n.777-3340G>A) c.177G>A c.799G>A (p.Gly267Ser) c.913G>A (p.Gly305Ser) c.898G>A (p.Gly300Ser) c.937G>A (p.Gly313Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23367959G>T | CA395108937 | SCNN1B | c.880G>T (p.Gly294Cys) c.1015G>T (p.Gly339Cys) c.777-3340G>T (n.777-3340G>T) c.177G>T c.799G>T (p.Gly267Cys) c.913G>T (p.Gly305Cys) c.898G>T (p.Gly300Cys) c.937G>T (p.Gly313Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23367959G= | CA2213305717 | SCNN1B | c.880G= (p.Gly294=) c.1015G= (p.Gly339=) c.777-3340G= (n.777-3340G=) c.177G= c.799G= (p.Gly267=) c.913G= (p.Gly305=) c.898G= (p.Gly300=) c.937G= (p.Gly313=) | dbSNP |