| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.210804143C>T | CA215108 | KCNH1 | c.1486G>A (p.Gly496Arg) c.1405G>A (p.Gly469Arg) c.819G>A c.334G>A (p.Gly112Arg) c.975G>A (p.Ser325=) c.1056G>A (p.Ser352=) c.311-28599G>A (n.311-28599G>A) c.310G>A (p.Gly104Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.210804143C= | CA1148225808 | KCNH1 | c.1486G= (p.Gly496=) c.1405G= (p.Gly469=) c.819G= c.334G= (p.Gly112=) c.975G= (p.Ser325=) c.1056G= (p.Ser352=) c.311-28599G= (n.311-28599G=) c.310G= (p.Gly104=) | dbSNP |
| 1 | g.210804143C>A | CA344874560 | KCNH1 | c.1486G>T (p.Gly496Trp) c.1405G>T (p.Gly469Trp) c.819G>T c.334G>T (p.Gly112Trp) c.975G>T (p.Ser325=) c.1056G>T (p.Ser352=) c.311-28599G>T (n.311-28599G>T) c.310G>T (p.Gly104Trp) | dbSNP |