| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572942C>T | CA008527 | KCNQ1 | c.616C>T (p.Arg206Cys) c.478-10493C>T (n.478-10493C>T) c.877C>T (p.Arg293Cys) c.496C>T (p.Arg166Cys) c.124-10493C>T (n.124-10493C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572942C= | CA1948212196 | KCNQ1 | c.616C= (p.Arg206=) c.478-10493C= (n.478-10493C=) c.877C= (p.Arg293=) c.496C= (p.Arg166=) c.124-10493C= (n.124-10493C=) | dbSNP |
| 11 | g.2572942C>A | CA379131607 | KCNQ1 | c.616C>A (p.Arg206Ser) c.478-10493C>A (n.478-10493C>A) c.877C>A (p.Arg293Ser) c.496C>A (p.Arg166Ser) c.124-10493C>A (n.124-10493C>A) | dbSNP gnomAD v4 |