| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23380574C>G | CA7960613 | SCNN1B | c.1696C>G (p.Arg566Gly) c.1831C>G (p.Arg611Gly) c.*701C>G (n.*701C>G) c.1588C>G (p.Arg530Gly) c.1615C>G (p.Arg539Gly) c.1729C>G (p.Arg577Gly) c.1714C>G (p.Arg572Gly) c.1753C>G (p.Arg585Gly) c.1645C>G (p.Arg549Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.23380574C>T | CA119956 | SCNN1B | c.1696C>T (p.Arg566Ter) c.1831C>T (p.Arg611Ter) c.*701C>T (n.*701C>T) c.1588C>T (p.Arg530Ter) c.1615C>T (p.Arg539Ter) c.1729C>T (p.Arg577Ter) c.1714C>T (p.Arg572Ter) c.1753C>T (p.Arg585Ter) c.1645C>T (p.Arg549Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23380574C>A | CA494460100 | SCNN1B | c.1696C>A (p.Arg566=) c.1831C>A (p.Arg611=) c.*701C>A (n.*701C>A) c.1588C>A (p.Arg530=) c.1615C>A (p.Arg539=) c.1729C>A (p.Arg577=) c.1714C>A (p.Arg572=) c.1753C>A (p.Arg585=) c.1645C>A (p.Arg549=) | dbSNP gnomAD v4 |
| 16 | g.23380574C= | CA2213314615 | SCNN1B | c.1696C= (p.Arg566=) c.1831C= (p.Arg611=) c.*701C= (n.*701C=) c.1588C= (p.Arg530=) c.1615C= (p.Arg539=) c.1729C= (p.Arg577=) c.1714C= (p.Arg572=) c.1753C= (p.Arg585=) c.1645C= (p.Arg549=) | dbSNP |