| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150946955del | CA16618396 | KCNH2 | n.4088del c.3255del (p.Pro1086LeufsTer?) c.2235del (p.Pro746LeufsTer?) c.2955del (p.Pro986LeufsTer?) c.3105del (p.Pro1036LeufsTer?) c.3078del (p.Pro1027LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150946955dup | CA2499218780 | KCNH2 | n.4088dup c.3255dup (p.Pro1086AlafsTer?) c.2235dup (p.Pro746AlafsTer?) c.2955dup (p.Pro986AlafsTer?) c.3105dup (p.Pro1036AlafsTer?) c.3078dup (p.Pro1027AlafsTer?) | ClinVar dbSNP |