| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570671G>C | CA007337 | KCNQ1 | c.260G>C (p.Arg87Pro) c.478-12764G>C (n.478-12764G>C) c.521G>C (p.Arg174Pro) c.140G>C (p.Arg47Pro) c.124-12764G>C (n.124-12764G>C) | ClinVar dbSNP |
| 11 | g.2570671G>A | CA007329 | KCNQ1 | c.260G>A (p.Arg87His) c.478-12764G>A (n.478-12764G>A) c.521G>A (p.Arg174His) c.140G>A (p.Arg47His) c.124-12764G>A (n.124-12764G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570671G>T | CA007345 | KCNQ1 | c.260G>T (p.Arg87Leu) c.478-12764G>T (n.478-12764G>T) c.521G>T (p.Arg174Leu) c.140G>T (p.Arg47Leu) c.124-12764G>T (n.124-12764G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570671G= | CA1948239628 | KCNQ1 | c.260G= (p.Arg87=) c.478-12764G= (n.478-12764G=) c.521G= (p.Arg174=) c.140G= (p.Arg47=) c.124-12764G= (n.124-12764G=) | dbSNP |