| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570730G>A | CA379130015 | KCNQ1 | c.319G>A (p.Ala107Thr) c.478-12705G>A (n.478-12705G>A) c.580G>A (p.Ala194Thr) c.199G>A (p.Ala67Thr) c.124-12705G>A (n.124-12705G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570730G>C | CA007628 | KCNQ1 | c.319G>C (p.Ala107Pro) c.478-12705G>C (n.478-12705G>C) c.580G>C (p.Ala194Pro) c.199G>C (p.Ala67Pro) c.124-12705G>C (n.124-12705G>C) | ClinVar dbSNP |
| 11 | g.2570730G= | CA1948239994 | KCNQ1 | c.319G= (p.Ala107=) c.478-12705G= (n.478-12705G=) c.580G= (p.Ala194=) c.199G= (p.Ala67=) c.124-12705G= (n.124-12705G=) | dbSNP |