| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947007dup | CA16042588 | KCNH2 | n.4033dup c.3200dup (p.Gln1068ThrfsTer?) c.2180dup (p.Gln728ThrfsTer?) c.2900dup (p.Gln968ThrfsTer?) c.3050dup (p.Gln1018ThrfsTer?) c.3023dup (p.Gln1009ThrfsTer?) | ClinVar dbSNP |
| 7 | g.150947007A= | CA3146465355 | KCNH2 | n.4033T= c.3200T= (p.Leu1067=) c.2180T= (p.Leu727=) c.2900T= (p.Leu967=) c.3050T= (p.Leu1017=) c.3023T= (p.Leu1008=) | dbSNP |