| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2585237T>C | CA005117 | KCNQ1 | c.771+1692T>C (n.771+1692T>C) c.588+1692T>C (n.588+1692T>C) c.1058T>C (p.Leu353Pro) c.677T>C (p.Leu226Pro) c.234+1692T>C (n.234+1692T>C) | ClinVar dbSNP |
| 11 | g.2585237T= | CA1948228887 | KCNQ1 | c.771+1692T= (n.771+1692T=) c.588+1692T= (n.588+1692T=) c.1058T= (p.Leu353=) c.677T= (p.Leu226=) c.234+1692T= (n.234+1692T=) | dbSNP |