Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947802dup | CA305328 | KCNH2 | n.3608dup c.2775dup (p.Pro926AlafsTer14) c.1755dup (p.Pro586AlafsTer14) c.2475dup (p.Pro826AlafsTer14) c.2693-105dup (n.2693-105dup) c.2625dup (p.Pro876AlafsTer14) c.2598dup (p.Pro867AlafsTer14) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150947802del | CA579075209 | KCNH2 | n.3608del c.2775del (p.Pro926ArgfsTer?) c.1755del (p.Pro586ArgfsTer?) c.2475del (p.Pro826ArgfsTer?) c.2693-105del (n.2693-105del) c.2625del (p.Pro876ArgfsTer?) c.2598del (p.Pro867ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |