| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23380736T>C | CA119960 | SCNN1B | c.1858T>C (p.Tyr620His) c.1993T>C (p.Tyr665His) c.*863T>C (n.*863T>C) c.1750T>C (p.Tyr584His) c.1777T>C (p.Tyr593His) c.1891T>C (p.Tyr631His) c.1876T>C (p.Tyr626His) c.1915T>C (p.Tyr639His) c.1807T>C (p.Tyr603His) | ClinVar dbSNP |
| 16 | g.23380736T= | CA2213314938 | SCNN1B | c.1858T= (p.Tyr620=) c.1993T= (p.Tyr665=) c.*863T= (n.*863T=) c.1750T= (p.Tyr584=) c.1777T= (p.Tyr593=) c.1891T= (p.Tyr631=) c.1876T= (p.Tyr626=) c.1915T= (p.Tyr639=) c.1807T= (p.Tyr603=) | dbSNP |