| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947382del | CA16042677 | KCNH2 | n.3932del c.3099del (p.Arg1035GlyfsTer22) c.2079del (p.Arg695GlyfsTer22) c.2799del (p.Arg935GlyfsTer22) c.2949del (p.Arg985GlyfsTer22) c.2922del (p.Arg976GlyfsTer22) | ClinVar dbSNP |
| 7 | g.150947382dup | CA1139771242 | KCNH2 | n.3932dup c.3099dup (p.Pro1034AlafsTer?) c.2079dup (p.Pro694AlafsTer?) c.2799dup (p.Pro934AlafsTer?) c.2949dup (p.Pro984AlafsTer?) c.2922dup (p.Pro975AlafsTer?) | ClinVar dbSNP |