| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23380493G>A | CA119966 | SCNN1B | c.1615G>A (p.Glu539Lys) c.1750G>A (p.Glu584Lys) c.*620G>A (n.*620G>A) c.1507G>A (p.Glu503Lys) c.1534G>A (p.Glu512Lys) c.1648G>A (p.Glu550Lys) c.1633G>A (p.Glu545Lys) c.1672G>A (p.Glu558Lys) c.1564G>A (p.Glu522Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23380493G= | CA2213314456 | SCNN1B | c.1615G= (p.Glu539=) c.1750G= (p.Glu584=) c.*620G= (n.*620G=) c.1507G= (p.Glu503=) c.1534G= (p.Glu512=) c.1648G= (p.Glu550=) c.1633G= (p.Glu545=) c.1672G= (p.Glu558=) c.1564G= (p.Glu522=) | dbSNP |