| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570663C>A | CA10588516 | KCNQ1 | c.252C>A (p.Tyr84Ter) c.478-12772C>A (n.478-12772C>A) c.513C>A (p.Tyr171Ter) c.132C>A (p.Tyr44Ter) c.124-12772C>A (n.124-12772C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570663C>T | CA007303 | KCNQ1 | c.252C>T (p.Tyr84=) c.478-12772C>T (n.478-12772C>T) c.513C>T (p.Tyr171=) c.132C>T (p.Tyr44=) c.124-12772C>T (n.124-12772C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570663C>G | CA007295 | KCNQ1 | c.252C>G (p.Tyr84Ter) c.478-12772C>G (n.478-12772C>G) c.513C>G (p.Tyr171Ter) c.132C>G (p.Tyr44Ter) c.124-12772C>G (n.124-12772C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |