| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572030A>G | CA350815 | KCNQ1 | c.440A>G (p.Gln147Arg) c.478-11405A>G (n.478-11405A>G) c.701A>G (p.Gln234Arg) c.320A>G (p.Gln107Arg) c.124-11405A>G (n.124-11405A>G) | ClinVar dbSNP |
| 11 | g.2572030A>T | CA16613562 | KCNQ1 | c.440A>T (p.Gln147Leu) c.478-11405A>T (n.478-11405A>T) c.701A>T (p.Gln234Leu) c.320A>T (p.Gln107Leu) c.124-11405A>T (n.124-11405A>T) | ClinVar dbSNP |
| 11 | g.2572030A>C | CA007932 | KCNQ1 | c.440A>C (p.Gln147Pro) c.478-11405A>C (n.478-11405A>C) c.701A>C (p.Gln234Pro) c.320A>C (p.Gln107Pro) c.124-11405A>C (n.124-11405A>C) | ClinVar dbSNP gnomAD v4 |