| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2588804del | CA005637 | KCNQ1 | c.986del (p.Pro329GlnfsTer18) c.803del (p.Pro268GlnfsTer18) c.1343del (p.Pro448GlnfsTer18) c.962del (p.Pro321GlnfsTer18) c.449del (p.Pro150GlnfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2588804dup | CA005612 | KCNQ1 | c.986dup (p.Glu330ArgfsTer14) c.803dup (p.Glu269ArgfsTer14) c.1343dup (p.Glu449ArgfsTer14) c.962dup (p.Glu322ArgfsTer14) c.449dup (p.Glu151ArgfsTer14) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |