| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23380727C>T | CA119961 | SCNN1B | c.1849C>T (p.Pro617Ser) c.1984C>T (p.Pro662Ser) c.*854C>T (n.*854C>T) c.1741C>T (p.Pro581Ser) c.1768C>T (p.Pro590Ser) c.1882C>T (p.Pro628Ser) c.1867C>T (p.Pro623Ser) c.1906C>T (p.Pro636Ser) c.1798C>T (p.Pro600Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23380727C= | CA2213314926 | SCNN1B | c.1849C= (p.Pro617=) c.1984C= (p.Pro662=) c.*854C= (n.*854C=) c.1741C= (p.Pro581=) c.1768C= (p.Pro590=) c.1882C= (p.Pro628=) c.1867C= (p.Pro623=) c.1906C= (p.Pro636=) c.1798C= (p.Pro600=) | dbSNP |