| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6348198G>A | CA120272 | SCNN1A | c.1685C>T (p.Ser562Leu) c.*756C>T (n.*756C>T) c.1862C>T (p.Ser621Leu) c.*91C>T (n.*91C>T) n.286C>T c.785C>T (p.Ser262Leu) c.1754C>T (p.Ser585Leu) n.18G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6348198G= | CA2014032843 | SCNN1A | c.1685C= (p.Ser562=) c.*756C= (n.*756C=) c.1862C= (p.Ser621=) c.*91C= (n.*91C=) n.286C= c.785C= (p.Ser262=) c.1754C= (p.Ser585=) n.18G= | dbSNP |