| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2778005A>G | CA379139706 | KCNQ1 | c.1405A>G (p.Ile469Val) c.1222A>G (p.Ile408Val) c.1762A>G (p.Ile588Val) c.1381A>G (p.Ile461Val) c.166A>G (p.Ile56Val) c.868A>G (p.Ile290Val) n.269A>G | ClinVar dbSNP |
| 11 | g.2778005A>T | CA006336 | KCNQ1 | c.1405A>T (p.Ile469Phe) c.1222A>T (p.Ile408Phe) c.1762A>T (p.Ile588Phe) c.1381A>T (p.Ile461Phe) c.166A>T (p.Ile56Phe) c.868A>T (p.Ile290Phe) n.269A>T | ClinVar dbSNP |
| 11 | g.2778005A= | CA1948315105 | KCNQ1 | c.1405A= (p.Ile469=) c.1222A= (p.Ile408=) c.1762A= (p.Ile588=) c.1381A= (p.Ile461=) c.166A= (p.Ile56=) c.868A= (p.Ile290=) n.269A= | dbSNP |