| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570685G>A | CA007379 | KCNQ1 | c.274G>A (p.Gly92Ser) c.478-12750G>A (n.478-12750G>A) c.535G>A (p.Gly179Ser) c.154G>A (p.Gly52Ser) c.124-12750G>A (n.124-12750G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570685G= | CA1948239705 | KCNQ1 | c.274G= (p.Gly92=) c.478-12750G= (n.478-12750G=) c.535G= (p.Gly179=) c.154G= (p.Gly52=) c.124-12750G= (n.124-12750G=) | dbSNP |
| 11 | g.2570685G>C | CA379129898 | KCNQ1 | c.274G>C (p.Gly92Arg) c.478-12750G>C (n.478-12750G>C) c.535G>C (p.Gly179Arg) c.154G>C (p.Gly52Arg) c.124-12750G>C (n.124-12750G>C) | ClinVar dbSNP |