| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2775984C>T | CA005994 | KCNQ1 | c.1258C>T (p.Arg420Trp) c.1075C>T (p.Arg359Trp) c.1615C>T (p.Arg539Trp) c.1234C>T (p.Arg412Trp) c.721C>T (p.Arg241Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2775984C= | CA1948314035 | KCNQ1 | c.1258C= (p.Arg420=) c.1075C= (p.Arg359=) c.1615C= (p.Arg539=) c.1234C= (p.Arg412=) c.721C= (p.Arg241=) | dbSNP |