| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6347896T>G | CA383552555 | SCNN1A | c.1987A>C (p.Thr663Pro) c.*1058A>C (n.*1058A>C) c.2164A>C (p.Thr722Pro) c.*393A>C (n.*393A>C) c.1087A>C (p.Thr363Pro) c.2056A>C (p.Thr686Pro) | dbSNP gnomAD v4 |
| 12 | g.6347896T>C | CA177870 | SCNN1A | c.1987A>G (p.Thr663Ala) c.*1058A>G (n.*1058A>G) c.2164A>G (p.Thr722Ala) c.*393A>G (n.*393A>G) c.1087A>G (p.Thr363Ala) c.2056A>G (p.Thr686Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6347896T>A | CA6405674 | SCNN1A | c.1987A>T (p.Thr663Ser) c.*1058A>T (n.*1058A>T) c.2164A>T (p.Thr722Ser) c.*393A>T (n.*393A>T) c.1087A>T (p.Thr363Ser) c.2056A>T (p.Thr686Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |