| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587590dup | CA005409 | KCNQ1 | c.792dup (p.Ala265CysfsTer?) c.609dup (p.Ala204CysfsTer?) c.1149dup (p.Ala384CysfsTer?) c.768dup (p.Ala257CysfsTer?) c.255dup (p.Ala86CysfsTer?) | ClinVar dbSNP |
| 11 | g.2587590T= | CA3182733359 | KCNQ1 | c.792T= (p.Ala264=) c.609T= (p.Ala203=) c.1149T= (p.Ala383=) c.768T= (p.Ala256=) c.255T= (p.Ala85=) | dbSNP |