| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570652G>C | CA007272 | KCNQ1 | c.241G>C (p.Gly81Arg) c.478-12783G>C (n.478-12783G>C) c.502G>C (p.Gly168Arg) c.121G>C (p.Gly41Arg) c.124-12783G>C (n.124-12783G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570652G>A | CA007263 | KCNQ1 | c.241G>A (p.Gly81Arg) c.478-12783G>A (n.478-12783G>A) c.502G>A (p.Gly168Arg) c.121G>A (p.Gly41Arg) c.124-12783G>A (n.124-12783G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570652G>T | CA379129840 | KCNQ1 | c.241G>T (p.Gly81Trp) c.478-12783G>T (n.478-12783G>T) c.502G>T (p.Gly168Trp) c.121G>T (p.Gly41Trp) c.124-12783G>T (n.124-12783G>T) | dbSNP gnomAD v4 |
| 11 | g.2570652G= | CA1948239488 | KCNQ1 | c.241G= (p.Gly81=) c.478-12783G= (n.478-12783G=) c.502G= (p.Gly168=) c.121G= (p.Gly41=) c.124-12783G= (n.124-12783G=) | dbSNP |