| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63407248del | CA342488 | KCNQ2 | c.2069del (p.Ser690ThrfsTer?) c.2015del (p.Ser672ThrfsTer?) c.1412del (p.Ser471ThrfsTer?) c.1922del (p.Ser641ThrfsTer?) c.1583del (p.Ser528ThrfsTer?) c.1931del (p.Ser644ThrfsTer?) c.2039del (p.Ser680ThrfsTer?) c.2003del (p.Ser668ThrfsTer?) c.1961del (p.Ser654ThrfsTer?) c.1679+6202del (n.1679+6202del) c.2057del (p.Ser686ThrfsTer?) c.2123del (p.Ser708ThrfsTer?) c.2120del (p.Ser707ThrfsTer?) c.2093del (p.Ser698ThrfsTer?) c.2012del (p.Ser671ThrfsTer?) c.1997del (p.Ser666ThrfsTer?) c.1604del (p.Ser535ThrfsTer?) c.2066del (p.Ser689ThrfsTer?) c.2000del (p.Ser667ThrfsTer?) c.1958del (p.Ser653ThrfsTer?) c.1031del (p.Ser344ThrfsTer?) | ClinVar dbSNP |
| 20 | g.63407248C= | CA2374774509 | KCNQ2 | c.2069G= (p.Ser690=) c.2015G= (p.Ser672=) c.1412G= (p.Ser471=) c.1922G= (p.Ser641=) c.1583G= (p.Ser528=) c.1931G= (p.Ser644=) c.2039G= (p.Ser680=) c.2003G= (p.Ser668=) c.1961G= (p.Ser654=) c.1679+6202G= (n.1679+6202G=) c.2057G= (p.Ser686=) c.2123G= (p.Ser708=) c.2120G= (p.Ser707=) c.2093G= (p.Ser698=) c.2012G= (p.Ser671=) c.1997G= (p.Ser666=) c.1604G= (p.Ser535=) c.2066G= (p.Ser689=) c.2000G= (p.Ser667=) c.1958G= (p.Ser653=) c.1031G= (p.Ser344=) | dbSNP dbSNP |