| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63414174C>G | CA288924 | KCNQ2 | c.1491G>C (p.Glu497Asp) c.1545G>C (p.Glu515Asp) c.942G>C (p.Glu314Asp) c.1452G>C (p.Glu484Asp) c.1113G>C (p.Glu371Asp) c.1461G>C (p.Glu487Asp) c.1425G>C (p.Glu475Asp) c.602G>C c.153G>C (p.Glu51Asp) c.1542G>C (p.Glu514Asp) c.1515G>C (p.Glu505Asp) c.1419G>C (p.Glu473Asp) c.1026G>C (p.Glu342Asp) c.1488G>C (p.Glu496Asp) c.1422G>C (p.Glu474Asp) c.453G>C (p.Glu151Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414174C>A | CA9958409 | KCNQ2 | c.1491G>T (p.Glu497Asp) c.1545G>T (p.Glu515Asp) c.942G>T (p.Glu314Asp) c.1452G>T (p.Glu484Asp) c.1113G>T (p.Glu371Asp) c.1461G>T (p.Glu487Asp) c.1425G>T (p.Glu475Asp) c.602G>T c.153G>T (p.Glu51Asp) c.1542G>T (p.Glu514Asp) c.1515G>T (p.Glu505Asp) c.1419G>T (p.Glu473Asp) c.1026G>T (p.Glu342Asp) c.1488G>T (p.Glu496Asp) c.1422G>T (p.Glu474Asp) c.453G>T (p.Glu151Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |