| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572979G>A | CA008615 | KCNQ1 | c.653G>A (p.Trp218Ter) c.478-10456G>A (n.478-10456G>A) c.914G>A (p.Trp305Ter) c.533G>A (p.Trp178Ter) c.124-10456G>A (n.124-10456G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572979G>C | CA008623 | KCNQ1 | c.653G>C (p.Trp218Ser) c.478-10456G>C (n.478-10456G>C) c.914G>C (p.Trp305Ser) c.533G>C (p.Trp178Ser) c.124-10456G>C (n.124-10456G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572979G>T | CA008627 | KCNQ1 | c.653G>T (p.Trp218Leu) c.478-10456G>T (n.478-10456G>T) c.914G>T (p.Trp305Leu) c.533G>T (p.Trp178Leu) c.124-10456G>T (n.124-10456G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |