| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570733C>T | CA007637 | KCNQ1 | c.322C>T (p.Arg108Trp) c.478-12702C>T (n.478-12702C>T) c.583C>T (p.Arg195Trp) c.202C>T (p.Arg68Trp) c.124-12702C>T (n.124-12702C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570733C>G | CA379130026 | KCNQ1 | c.322C>G (p.Arg108Gly) c.478-12702C>G (n.478-12702C>G) c.583C>G (p.Arg195Gly) c.202C>G (p.Arg68Gly) c.124-12702C>G (n.124-12702C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570733C= | CA1948240005 | KCNQ1 | c.322C= (p.Arg108=) c.478-12702C= (n.478-12702C=) c.583C= (p.Arg195=) c.202C= (p.Arg68=) c.124-12702C= (n.124-12702C=) | dbSNP |