| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2776000A>C | CA379139140 | KCNQ1 | c.1274A>C (p.Gln425Pro) c.1091A>C (p.Gln364Pro) c.1631A>C (p.Gln544Pro) c.1250A>C (p.Gln417Pro) c.737A>C (p.Gln246Pro) | dbSNP |
| 11 | g.2776000A>T | CA006022 | KCNQ1 | c.1274A>T (p.Gln425Leu) c.1091A>T (p.Gln364Leu) c.1631A>T (p.Gln544Leu) c.1250A>T (p.Gln417Leu) c.737A>T (p.Gln246Leu) | ClinVar dbSNP |