| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2776032C>T | CA006141 | KCNQ1 | c.1306C>T (p.Arg436Cys) c.1123C>T (p.Arg375Cys) c.1663C>T (p.Arg555Cys) c.1282C>T (p.Arg428Cys) c.769C>T (p.Arg257Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2776032C>A | CA006138 | KCNQ1 | c.1306C>A (p.Arg436Ser) c.1123C>A (p.Arg375Ser) c.1663C>A (p.Arg555Ser) c.1282C>A (p.Arg428Ser) c.769C>A (p.Arg257Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2776032C= | CA1948314062 | KCNQ1 | c.1306C= (p.Arg436=) c.1123C= (p.Arg375=) c.1663C= (p.Arg555=) c.1282C= (p.Arg428=) c.769C= (p.Arg257=) | dbSNP |