| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572846G>T | CA379131241 | KCNQ1 | c.520G>T (p.Glu174Ter) c.478-10589G>T (n.478-10589G>T) c.781G>T (p.Glu261Ter) c.400G>T (p.Glu134Ter) c.124-10589G>T (n.124-10589G>T) | ClinVar dbSNP |
| 11 | g.2572846G>C | CA008221 | KCNQ1 | c.520G>C (p.Glu174Gln) c.478-10589G>C (n.478-10589G>C) c.781G>C (p.Glu261Gln) c.400G>C (p.Glu134Gln) c.124-10589G>C (n.124-10589G>C) | ClinVar dbSNP |
| 11 | g.2572846G>A | CA008215 | KCNQ1 | c.520G>A (p.Glu174Lys) c.478-10589G>A (n.478-10589G>A) c.781G>A (p.Glu261Lys) c.400G>A (p.Glu134Lys) c.124-10589G>A (n.124-10589G>A) | ClinVar dbSNP |