| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570683delinsGG | CA252606 | KCNQ1 | c.272delinsGG (p.Ala91GlyfsTer?) c.478-12752delinsGG (n.478-12752delinsGG) c.533delinsGG (p.Ala178GlyfsTer?) c.152delinsGG (p.Ala51GlyfsTer?) c.124-12752delinsGG (n.124-12752delinsGG) | ClinVar dbSNP |
| 11 | g.2570683C= | CA3182733380 | KCNQ1 | c.272C= (p.Ala91=) c.478-12752C= (n.478-12752C=) c.533C= (p.Ala178=) c.152C= (p.Ala51=) c.124-12752C= (n.124-12752C=) | dbSNP |