Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2847827T>A | CA006511 | KCNQ1,KCNQ1-AS1 | c.1498T>A (p.Leu500Met) c.1855T>A (p.Leu619Met) c.1474T>A (p.Leu492Met) c.259T>A (p.Leu87Met) n.362T>A n.778-7385A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2847827T= | CA1948349615 | KCNQ1,KCNQ1-AS1 | c.1498T= (p.Leu500=) c.1855T= (p.Leu619=) c.1474T= (p.Leu492=) c.259T= (p.Leu87=) n.362T= n.778-7385A= | dbSNP |