| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2775966C>T | CA005979 | KCNQ1 | c.1240C>T (p.Arg414Trp) c.1057C>T (p.Arg353Trp) c.1597C>T (p.Arg533Trp) c.1216C>T (p.Arg406Trp) c.703C>T (p.Arg235Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2775966C>G | CA379139069 | KCNQ1 | c.1240C>G (p.Arg414Gly) c.1057C>G (p.Arg353Gly) c.1597C>G (p.Arg533Gly) c.1216C>G (p.Arg406Gly) c.703C>G (p.Arg235Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2775966C= | CA1948314028 | KCNQ1 | c.1240C= (p.Arg414=) c.1057C= (p.Arg353=) c.1597C= (p.Arg533=) c.1216C= (p.Arg406=) c.703C= (p.Arg235=) | dbSNP |