Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63439624C>ACA409652527KCNQ2c.901G>T (p.Gly301Cys)
n.639G>T
c.382G>T (p.Gly128Cys)
c.559G>T (p.Gly187Cys)
n.1027G>T
c.266G>T
c.45G>T
c.404G>T (p.Arg135Leu)
n.726G>T
c.775G>T (p.Gly259Cys)
c.832G>T (p.Gly278Cys)
20g.63439624C=CA2374791939KCNQ2c.901G= (p.Gly301=)
n.639G=
c.382G= (p.Gly128=)
c.559G= (p.Gly187=)
n.1027G=
c.266G=
c.45G=
c.404G= (p.Arg135=)
n.726G=
c.775G= (p.Gly259=)
c.832G= (p.Gly278=)
20g.63439624C>GCA409652528KCNQ2c.901G>C (p.Gly301Arg)
n.639G>C
c.382G>C (p.Gly128Arg)
c.559G>C (p.Gly187Arg)
n.1027G>C
c.266G>C
c.45G>C
c.404G>C (p.Arg135Pro)
n.726G>C
c.775G>C (p.Gly259Arg)
c.832G>C (p.Gly278Arg)
20g.63439624C>TCA10654809KCNQ2c.901G>A (p.Gly301Ser)
n.639G>A
c.382G>A (p.Gly128Ser)
c.559G>A (p.Gly187Ser)
n.1027G>A
c.266G>A
c.45G>A
c.404G>A (p.Arg135Gln)
n.726G>A
c.775G>A (p.Gly259Ser)
c.832G>A (p.Gly278Ser)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439625G>ACA9958703KCNQ2c.900C>T (p.Ile300=)
n.638C>T
c.381C>T (p.Ile127=)
c.558C>T (p.Ile186=)
n.1026C>T
c.265C>T
c.44C>T
c.403C>T (p.Arg135Trp)
n.725C>T
c.774C>T (p.Ile258=)
c.831C>T (p.Ile277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439625G>CCA409652529KCNQ2c.900C>G (p.Ile300Met)
n.638C>G
c.381C>G (p.Ile127Met)
c.558C>G (p.Ile186Met)
n.1026C>G
c.265C>G
c.44C>G
c.403C>G (p.Arg135Gly)
n.725C>G
c.774C>G (p.Ile258Met)
c.831C>G (p.Ile277Met)
 gnomAD v4
20g.63439625G=CA2374791940KCNQ2c.900C= (p.Ile300=)
n.638C=
c.381C= (p.Ile127=)
c.558C= (p.Ile186=)
n.1026C=
c.265C=
c.44C=
c.403C= (p.Arg135=)
n.725C=
c.774C= (p.Ile258=)
c.831C= (p.Ile277=)
20g.63439625G>TCA511208599KCNQ2c.900C>A (p.Ile300=)
n.638C>A
c.381C>A (p.Ile127=)
c.558C>A (p.Ile186=)
n.1026C>A
c.265C>A
c.44C>A
c.403C>A (p.Arg135=)
n.725C>A
c.774C>A (p.Ile258=)
c.831C>A (p.Ile277=)
20g.63439626A>CCA409652530KCNQ2c.899T>G (p.Ile300Ser)
n.637T>G
c.380T>G (p.Ile127Ser)
c.557T>G (p.Ile186Ser)
n.1025T>G
c.264T>G
c.43T>G
c.402T>G (p.His134Gln)
n.724T>G
c.773T>G (p.Ile258Ser)
c.830T>G (p.Ile277Ser)
20g.63439626A>GCA409652532KCNQ2c.899T>C (p.Ile300Thr)
n.637T>C
c.380T>C (p.Ile127Thr)
c.557T>C (p.Ile186Thr)
n.1025T>C
c.264T>C
c.43T>C
c.402T>C (p.His134=)
n.724T>C
c.773T>C (p.Ile258Thr)
c.830T>C (p.Ile277Thr)
20g.63439626A>TCA409652531KCNQ2c.899T>A (p.Ile300Asn)
n.637T>A
c.380T>A (p.Ile127Asn)
c.557T>A (p.Ile186Asn)
n.1025T>A
c.264T>A
c.43T>A
c.402T>A (p.His134Gln)
n.724T>A
c.773T>A (p.Ile258Asn)
c.830T>A (p.Ile277Asn)
20g.63439627T>ACA409652533KCNQ2c.898A>T (p.Ile300Phe)
n.636A>T
c.379A>T (p.Ile127Phe)
c.556A>T (p.Ile186Phe)
n.1024A>T
c.263A>T
c.42A>T
c.401A>T (p.His134Leu)
n.723A>T
c.772A>T (p.Ile258Phe)
c.829A>T (p.Ile277Phe)
20g.63439627T>CCA409652534KCNQ2c.898A>G (p.Ile300Val)
n.636A>G
c.379A>G (p.Ile127Val)
c.556A>G (p.Ile186Val)
n.1024A>G
c.263A>G
c.42A>G
c.401A>G (p.His134Arg)
n.723A>G
c.772A>G (p.Ile258Val)
c.829A>G (p.Ile277Val)
20g.63439627T>GCA409652535KCNQ2c.898A>C (p.Ile300Leu)
n.636A>C
c.379A>C (p.Ile127Leu)
c.556A>C (p.Ile186Leu)
n.1024A>C
c.263A>C
c.42A>C
c.401A>C (p.His134Pro)
n.723A>C
c.772A>C (p.Ile258Leu)
c.829A>C (p.Ile277Leu)
 gnomAD v4
20g.63439628G>ACA409652536KCNQ2c.897C>T (p.Leu299=)
n.635C>T
c.378C>T (p.Leu126=)
c.555C>T (p.Leu185=)
n.1023C>T
c.262C>T
c.41C>T
c.400C>T (p.His134Tyr)
n.722C>T
c.771C>T (p.Leu257=)
c.828C>T (p.Leu276=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63439628G>CCA409652537KCNQ2c.897C>G (p.Leu299=)
n.635C>G
c.378C>G (p.Leu126=)
c.555C>G (p.Leu185=)
n.1023C>G
c.262C>G
c.41C>G
c.400C>G (p.His134Asp)
n.722C>G
c.771C>G (p.Leu257=)
c.828C>G (p.Leu276=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63439628G=CA2374791941KCNQ2c.897C= (p.Leu299=)
n.635C=
c.378C= (p.Leu126=)
c.555C= (p.Leu185=)
n.1023C=
c.262C=
c.41C=
c.400C= (p.His134=)
n.722C=
c.771C= (p.Leu257=)
c.828C= (p.Leu276=)
20g.63439628G>TCA409652538KCNQ2c.897C>A (p.Leu299=)
n.635C>A
c.378C>A (p.Leu126=)
c.555C>A (p.Leu185=)
n.1023C>A
c.262C>A
c.41C>A
c.400C>A (p.His134Asn)
n.722C>A
c.771C>A (p.Leu257=)
c.828C>A (p.Leu276=)
20g.63439629A>CCA409652539KCNQ2c.896T>G (p.Leu299Arg)
n.634T>G
c.377T>G (p.Leu126Arg)
c.554T>G (p.Leu185Arg)
n.1022T>G
c.261T>G
c.40T>G
c.399T>G (p.Pro133=)
n.721T>G
c.770T>G (p.Leu257Arg)
c.827T>G (p.Leu276Arg)
20g.63439629A>GCA409652540KCNQ2c.896T>C (p.Leu299Pro)
n.634T>C
c.377T>C (p.Leu126Pro)
c.554T>C (p.Leu185Pro)
n.1022T>C
c.261T>C
c.40T>C
c.399T>C (p.Pro133=)
n.721T>C
c.770T>C (p.Leu257Pro)
c.827T>C (p.Leu276Pro)
20g.63439629A>TCA409652541KCNQ2c.896T>A (p.Leu299His)
n.634T>A
c.377T>A (p.Leu126His)
c.554T>A (p.Leu185His)
n.1022T>A
c.261T>A
c.40T>A
c.399T>A (p.Pro133=)
n.721T>A
c.770T>A (p.Leu257His)
c.827T>A (p.Leu276His)
20g.63439630G>ACA409652542KCNQ2c.895C>T (p.Leu299Phe)
n.633C>T
c.376C>T (p.Leu126Phe)
c.553C>T (p.Leu185Phe)
n.1021C>T
c.260C>T
c.39C>T
c.398C>T (p.Pro133Leu)
n.720C>T
c.769C>T (p.Leu257Phe)
c.826C>T (p.Leu276Phe)
20g.63439630G>CCA409652543KCNQ2c.895C>G (p.Leu299Val)
n.633C>G
c.376C>G (p.Leu126Val)
c.553C>G (p.Leu185Val)
n.1021C>G
c.260C>G
c.39C>G
c.398C>G (p.Pro133Arg)
n.720C>G
c.769C>G (p.Leu257Val)
c.826C>G (p.Leu276Val)
 ClinVar dbSNP
20g.63439630G>TCA409652544KCNQ2c.895C>A (p.Leu299Ile)
n.633C>A
c.376C>A (p.Leu126Ile)
c.553C>A (p.Leu185Ile)
n.1021C>A
c.260C>A
c.39C>A
c.398C>A (p.Pro133His)
n.720C>A
c.769C>A (p.Leu257Ile)
c.826C>A (p.Leu276Ile)
20g.63439631G>ACA409652545KCNQ2c.894C>T (p.Thr298=)
n.632C>T
c.375C>T (p.Thr125=)
c.552C>T (p.Thr184=)
n.1020C>T
c.259C>T
c.38C>T
c.397C>T (p.Pro133Ser)
n.719C>T
c.768C>T (p.Thr256=)
c.825C>T (p.Thr275=)
 ClinVar dbSNP
20g.63439631G>CCA409652547KCNQ2c.894C>G (p.Thr298=)
n.632C>G
c.375C>G (p.Thr125=)
c.552C>G (p.Thr184=)
n.1020C>G
c.259C>G
c.38C>G
c.397C>G (p.Pro133Ala)
n.719C>G
c.768C>G (p.Thr256=)
c.825C>G (p.Thr275=)
 gnomAD v4
20g.63439631G>TCA409652546KCNQ2c.894C>A (p.Thr298=)
n.632C>A
c.375C>A (p.Thr125=)
c.552C>A (p.Thr184=)
n.1020C>A
c.259C>A
c.38C>A
c.397C>A (p.Pro133Thr)
n.719C>A
c.768C>A (p.Thr256=)
c.825C>A (p.Thr275=)
20g.63439632G>ACA409652548KCNQ2c.893C>T (p.Thr298Ile)
n.631C>T
c.374C>T (p.Thr125Ile)
c.551C>T (p.Thr184Ile)
n.1019C>T
c.258C>T
c.37C>T
c.396C>T (p.His132=)
n.718C>T
c.767C>T (p.Thr256Ile)
c.824C>T (p.Thr275Ile)
20g.63439632G>CCA409652549KCNQ2c.893C>G (p.Thr298Ser)
n.631C>G
c.374C>G (p.Thr125Ser)
c.551C>G (p.Thr184Ser)
n.1019C>G
c.258C>G
c.37C>G
c.396C>G (p.His132Gln)
n.718C>G
c.767C>G (p.Thr256Ser)
c.824C>G (p.Thr275Ser)
20g.63439632G>TCA409652550KCNQ2c.893C>A (p.Thr298Asn)
n.631C>A
c.374C>A (p.Thr125Asn)
c.551C>A (p.Thr184Asn)
n.1019C>A
c.258C>A
c.37C>A
c.396C>A (p.His132Gln)
n.718C>A
c.767C>A (p.Thr256Asn)
c.824C>A (p.Thr275Asn)
20g.63439633T>ACA409652551KCNQ2c.892A>T (p.Thr298Ser)
n.630A>T
c.373A>T (p.Thr125Ser)
c.550A>T (p.Thr184Ser)
n.1018A>T
c.257A>T
c.36A>T
c.395A>T (p.His132Leu)
n.717A>T
c.766A>T (p.Thr256Ser)
c.823A>T (p.Thr275Ser)
20g.63439633T>CCA409652552KCNQ2c.892A>G (p.Thr298Ala)
n.630A>G
c.373A>G (p.Thr125Ala)
c.550A>G (p.Thr184Ala)
n.1018A>G
c.257A>G
c.36A>G
c.395A>G (p.His132Arg)
n.717A>G
c.766A>G (p.Thr256Ala)
c.823A>G (p.Thr275Ala)
20g.63439633T>GCA409652553KCNQ2c.892A>C (p.Thr298Pro)
n.630A>C
c.373A>C (p.Thr125Pro)
c.550A>C (p.Thr184Pro)
n.1018A>C
c.257A>C
c.36A>C
c.395A>C (p.His132Pro)
n.717A>C
c.766A>C (p.Thr256Pro)
c.823A>C (p.Thr275Pro)
20g.63439634G>ACA409652554KCNQ2c.891C>T (p.Phe297=)
n.629C>T
c.372C>T (p.Phe124=)
c.549C>T (p.Phe183=)
n.1017C>T
c.256C>T
c.35C>T
c.394C>T (p.His132Tyr)
n.716C>T
c.765C>T (p.Phe255=)
c.822C>T (p.Phe274=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63439634G>CCA409652555KCNQ2c.891C>G (p.Phe297Leu)
n.629C>G
c.372C>G (p.Phe124Leu)
c.549C>G (p.Phe183Leu)
n.1017C>G
c.256C>G
c.35C>G
c.394C>G (p.His132Asp)
n.716C>G
c.765C>G (p.Phe255Leu)
c.822C>G (p.Phe274Leu)
 ClinVar
20g.63439634G=CA2374791942KCNQ2c.891C= (p.Phe297=)
n.629C=
c.372C= (p.Phe124=)
c.549C= (p.Phe183=)
n.1017C=
c.256C=
c.35C=
c.394C= (p.His132=)
n.716C=
c.765C= (p.Phe255=)
c.822C= (p.Phe274=)
20g.63439634G>TCA409652556KCNQ2c.891C>A (p.Phe297Leu)
n.629C>A
c.372C>A (p.Phe124Leu)
c.549C>A (p.Phe183Leu)
n.1017C>A
c.256C>A
c.35C>A
c.394C>A (p.His132Asn)
n.716C>A
c.765C>A (p.Phe255Leu)
c.822C>A (p.Phe274Leu)
20g.63439635A>CCA409652558KCNQ2c.890T>G (p.Phe297Cys)
n.628T>G
c.371T>G (p.Phe124Cys)
c.548T>G (p.Phe183Cys)
n.1016T>G
c.255T>G
c.34T>G
c.393T>G (p.Leu131=)
n.715T>G
c.764T>G (p.Phe255Cys)
c.821T>G (p.Phe274Cys)
20g.63439635A>GCA409652559KCNQ2c.890T>C (p.Phe297Ser)
n.628T>C
c.371T>C (p.Phe124Ser)
c.548T>C (p.Phe183Ser)
n.1016T>C
c.255T>C
c.34T>C
c.393T>C (p.Leu131=)
n.715T>C
c.764T>C (p.Phe255Ser)
c.821T>C (p.Phe274Ser)
20g.63439635A>TCA409652557KCNQ2c.890T>A (p.Phe297Tyr)
n.628T>A
c.371T>A (p.Phe124Tyr)
c.548T>A (p.Phe183Tyr)
n.1016T>A
c.255T>A
c.34T>A
c.393T>A (p.Leu131=)
n.715T>A
c.764T>A (p.Phe255Tyr)
c.821T>A (p.Phe274Tyr)
20g.63439636A>CCA409652560KCNQ2c.889T>G (p.Phe297Val)
n.627T>G
c.370T>G (p.Phe124Val)
c.547T>G (p.Phe183Val)
n.1015T>G
c.254T>G
c.33T>G
c.392T>G (p.Leu131Arg)
n.714T>G
c.763T>G (p.Phe255Val)
c.820T>G (p.Phe274Val)
20g.63439636A>GCA409652561KCNQ2c.889T>C (p.Phe297Leu)
n.627T>C
c.370T>C (p.Phe124Leu)
c.547T>C (p.Phe183Leu)
n.1015T>C
c.254T>C
c.33T>C
c.392T>C (p.Leu131Pro)
n.714T>C
c.763T>C (p.Phe255Leu)
c.820T>C (p.Phe274Leu)
20g.63439636A>TCA409652562KCNQ2c.889T>A (p.Phe297Ile)
n.627T>A
c.370T>A (p.Phe124Ile)
c.547T>A (p.Phe183Ile)
n.1015T>A
c.254T>A
c.33T>A
c.392T>A (p.Leu131His)
n.714T>A
c.763T>A (p.Phe255Ile)
c.820T>A (p.Phe274Ile)
20g.63439637G>ACA291788KCNQ2c.888C>T (p.Thr296=)
n.626C>T
c.369C>T (p.Thr123=)
c.546C>T (p.Thr182=)
n.1014C>T
c.253C>T
c.32C>T
c.391C>T (p.Leu131Phe)
n.713C>T
c.762C>T (p.Thr254=)
c.819C>T (p.Thr273=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439637G>CCA409652563KCNQ2c.888C>G (p.Thr296=)
n.626C>G
c.369C>G (p.Thr123=)
c.546C>G (p.Thr182=)
n.1014C>G
c.253C>G
c.32C>G
c.391C>G (p.Leu131Val)
n.713C>G
c.762C>G (p.Thr254=)
c.819C>G (p.Thr273=)
20g.63439637G=CA2374791943KCNQ2c.888C= (p.Thr296=)
n.626C=
c.369C= (p.Thr123=)
c.546C= (p.Thr182=)
n.1014C=
c.253C=
c.32C=
c.391C= (p.Leu131=)
n.713C=
c.762C= (p.Thr254=)
c.819C= (p.Thr273=)
20g.63439637G>TCA409652564KCNQ2c.888C>A (p.Thr296=)
n.626C>A
c.369C>A (p.Thr123=)
c.546C>A (p.Thr182=)
n.1014C>A
c.253C>A
c.32C>A
c.391C>A (p.Leu131Ile)
n.713C>A
c.762C>A (p.Thr254=)
c.819C>A (p.Thr273=)
20g.63439638G>ACA409652565KCNQ2c.887C>T (p.Thr296Ile)
n.625C>T
c.368C>T (p.Thr123Ile)
c.545C>T (p.Thr182Ile)
n.1013C>T
c.252C>T
c.31C>T
c.390C>T (p.Asn130=)
n.712C>T
c.761C>T (p.Thr254Ile)
c.818C>T (p.Thr273Ile)
 gnomAD v4
20g.63439638G>CCA409652566KCNQ2c.887C>G (p.Thr296Ser)
n.625C>G
c.368C>G (p.Thr123Ser)
c.545C>G (p.Thr182Ser)
n.1013C>G
c.252C>G
c.31C>G
c.390C>G (p.Asn130Lys)
n.712C>G
c.761C>G (p.Thr254Ser)
c.818C>G (p.Thr273Ser)
20g.63439638G=CA2374791944KCNQ2c.887C= (p.Thr296=)
n.625C=
c.368C= (p.Thr123=)
c.545C= (p.Thr182=)
n.1013C=
c.252C=
c.31C=
c.390C= (p.Asn130=)
n.712C=
c.761C= (p.Thr254=)
c.818C= (p.Thr273=)
20g.63439638G>TCA409652567KCNQ2c.887C>A (p.Thr296Asn)
n.625C>A
c.368C>A (p.Thr123Asn)
c.545C>A (p.Thr182Asn)
n.1013C>A
c.252C>A
c.31C>A
c.390C>A (p.Asn130Lys)
n.712C>A
c.761C>A (p.Thr254Asn)
c.818C>A (p.Thr273Asn)
 ClinVar dbSNP
20g.63439639T>ACA409652568KCNQ2c.886A>T (p.Thr296Ser)
n.624A>T
c.367A>T (p.Thr123Ser)
c.544A>T (p.Thr182Ser)
n.1012A>T
c.251A>T
c.30A>T
c.389A>T (p.Asn130Ile)
n.711A>T
c.760A>T (p.Thr254Ser)
c.817A>T (p.Thr273Ser)
20g.63439639T>CCA9958704KCNQ2c.886A>G (p.Thr296Ala)
n.624A>G
c.367A>G (p.Thr123Ala)
c.544A>G (p.Thr182Ala)
n.1012A>G
c.251A>G
c.30A>G
c.389A>G (p.Asn130Ser)
n.711A>G
c.760A>G (p.Thr254Ala)
c.817A>G (p.Thr273Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439639T>GCA10654810KCNQ2c.886A>C (p.Thr296Pro)
n.624A>C
c.367A>C (p.Thr123Pro)
c.544A>C (p.Thr182Pro)
n.1012A>C
c.251A>C
c.30A>C
c.389A>C (p.Asn130Thr)
n.711A>C
c.760A>C (p.Thr254Pro)
c.817A>C (p.Thr273Pro)
 ClinVar dbSNP
20g.63439639T=CA2374791945KCNQ2c.886A= (p.Thr296=)
n.624A=
c.367A= (p.Thr123=)
c.544A= (p.Thr182=)
n.1012A=
c.251A=
c.30A=
c.389A= (p.Asn130=)
n.711A=
c.760A= (p.Thr254=)
c.817A= (p.Thr273=)
20g.63439640T>ACA409652571KCNQ2c.885A>T (p.Ala295=)
n.623A>T
c.366A>T (p.Ala122=)
c.543A>T (p.Ala181=)
n.1011A>T
c.250A>T
c.29A>T
c.388A>T (p.Asn130Tyr)
n.710A>T
c.759A>T (p.Ala253=)
c.816A>T (p.Ala272=)
 dbSNP
20g.63439640T>CCA409652569KCNQ2c.885A>G (p.Ala295=)
n.623A>G
c.366A>G (p.Ala122=)
c.543A>G (p.Ala181=)
n.1011A>G
c.250A>G
c.29A>G
c.388A>G (p.Asn130Asp)
n.710A>G
c.759A>G (p.Ala253=)
c.816A>G (p.Ala272=)
20g.63439640T>GCA409652570KCNQ2c.885A>C (p.Ala295=)
n.623A>C
c.366A>C (p.Ala122=)
c.543A>C (p.Ala181=)
n.1011A>C
c.250A>C
c.29A>C
c.388A>C (p.Asn130His)
n.710A>C
c.759A>C (p.Ala253=)
c.816A>C (p.Ala272=)
20g.63439641G>ACA409652572KCNQ2c.884C>T (p.Ala295Val)
n.622C>T
c.365C>T (p.Ala122Val)
c.542C>T (p.Ala181Val)
n.1010C>T
c.249C>T
c.28C>T
c.387C>T (p.Gly129=)
n.709C>T
c.758C>T (p.Ala253Val)
c.815C>T (p.Ala272Val)
20g.63439641G>CCA409652573KCNQ2c.884C>G (p.Ala295Gly)
n.622C>G
c.365C>G (p.Ala122Gly)
c.542C>G (p.Ala181Gly)
n.1010C>G
c.249C>G
c.28C>G
c.387C>G (p.Gly129=)
n.709C>G
c.758C>G (p.Ala253Gly)
c.815C>G (p.Ala272Gly)
20g.63439641G>TCA409652574KCNQ2c.884C>A (p.Ala295Glu)
n.622C>A
c.365C>A (p.Ala122Glu)
c.542C>A (p.Ala181Glu)
n.1010C>A
c.249C>A
c.28C>A
c.387C>A (p.Gly129=)
n.709C>A
c.758C>A (p.Ala253Glu)
c.815C>A (p.Ala272Glu)
20g.63439642C>ACA409652575KCNQ2c.883G>T (p.Ala295Ser)
n.621G>T
c.364G>T (p.Ala122Ser)
c.541G>T (p.Ala181Ser)
n.1009G>T
c.248G>T
c.27G>T
c.386G>T (p.Gly129Val)
n.708G>T
c.757G>T (p.Ala253Ser)
c.814G>T (p.Ala272Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.63439642C=CA2374791946KCNQ2c.883G= (p.Ala295=)
n.621G=
c.364G= (p.Ala122=)
c.541G= (p.Ala181=)
n.1009G=
c.248G=
c.27G=
c.386G= (p.Gly129=)
n.708G=
c.757G= (p.Ala253=)
c.814G= (p.Ala272=)
20g.63439642C>GCA409652576KCNQ2c.883G>C (p.Ala295Pro)
n.621G>C
c.364G>C (p.Ala122Pro)
c.541G>C (p.Ala181Pro)
n.1009G>C
c.248G>C
c.27G>C
c.386G>C (p.Gly129Ala)
n.708G>C
c.757G>C (p.Ala253Pro)
c.814G>C (p.Ala272Pro)
20g.63439642C>TCA409652577KCNQ2c.883G>A (p.Ala295Thr)
n.621G>A
c.364G>A (p.Ala122Thr)
c.541G>A (p.Ala181Thr)
n.1009G>A
c.248G>A
c.27G>A
c.386G>A (p.Gly129Asp)
n.708G>A
c.757G>A (p.Ala253Thr)
c.814G>A (p.Ala272Thr)
20g.63439643delCA2573157302KCNQ2c.883del (p.Ala295GlnfsTer24)
n.621del
c.364del (p.Ala122GlnfsTer24)
c.541del (p.Ala181GlnfsTer24)
n.1009del
c.248del
c.27del
c.386del (p.Gly129AlafsTer?)
n.708del
c.757del (p.Ala253GlnfsTer24)
c.814del (p.Ala272GlnfsTer24)
 ClinVar dbSNP
20g.63439643C>ACA409652578KCNQ2c.882G>T (p.Ala294=)
n.620G>T
c.363G>T (p.Ala121=)
c.540G>T (p.Ala180=)
n.1008G>T
c.247G>T
c.26G>T
c.385G>T (p.Gly129Cys)
n.707G>T
c.756G>T (p.Ala252=)
c.813G>T (p.Ala271=)
 gnomAD v4
20g.63439643C=CA2374791947KCNQ2c.882G= (p.Ala294=)
n.620G=
c.363G= (p.Ala121=)
c.540G= (p.Ala180=)
n.1008G=
c.247G=
c.26G=
c.385G= (p.Gly129=)
n.707G=
c.756G= (p.Ala252=)
c.813G= (p.Ala271=)
20g.63439643C>GCA409652579KCNQ2c.882G>C (p.Ala294=)
n.620G>C
c.363G>C (p.Ala121=)
c.540G>C (p.Ala180=)
n.1008G>C
c.247G>C
c.26G>C
c.385G>C (p.Gly129Arg)
n.707G>C
c.756G>C (p.Ala252=)
c.813G>C (p.Ala271=)
20g.63439643C>TCA9958705KCNQ2c.882G>A (p.Ala294=)
n.620G>A
c.363G>A (p.Ala121=)
c.540G>A (p.Ala180=)
n.1008G>A
c.247G>A
c.26G>A
c.385G>A (p.Gly129Ser)
n.707G>A
c.756G>A (p.Ala252=)
c.813G>A (p.Ala271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439644G>ACA278571KCNQ2c.881C>T (p.Ala294Val)
n.619C>T
c.362C>T (p.Ala121Val)
c.539C>T (p.Ala180Val)
n.1007C>T
c.246C>T
c.25C>T
c.384C>T (p.Cys128=)
n.706C>T
c.755C>T (p.Ala252Val)
c.812C>T (p.Ala271Val)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439644G>CCA342537KCNQ2c.881C>G (p.Ala294Gly)
n.619C>G
c.362C>G (p.Ala121Gly)
c.539C>G (p.Ala180Gly)
n.1007C>G
c.246C>G
c.25C>G
c.384C>G (p.Cys128Trp)
n.706C>G
c.755C>G (p.Ala252Gly)
c.812C>G (p.Ala271Gly)
 ClinVar dbSNP
20g.63439644G=CA2374791948KCNQ2c.881C= (p.Ala294=)
n.619C=
c.362C= (p.Ala121=)
c.539C= (p.Ala180=)
n.1007C=
c.246C=
c.25C=
c.384C= (p.Cys128=)
n.706C=
c.755C= (p.Ala252=)
c.812C= (p.Ala271=)
20g.63439644G>TCA409652580KCNQ2c.881C>A (p.Ala294Glu)
n.619C>A
c.362C>A (p.Ala121Glu)
c.539C>A (p.Ala180Glu)
n.1007C>A
c.246C>A
c.25C>A
c.384C>A (p.Cys128Ter)
n.706C>A
c.755C>A (p.Ala252Glu)
c.812C>A (p.Ala271Glu)
 COSMIC COSMIC COSMIC COSMIC
20g.63439645C>ACA409652583KCNQ2c.880G>T (p.Ala294Ser)
n.618G>T
c.361G>T (p.Ala121Ser)
c.538G>T (p.Ala180Ser)
n.1006G>T
c.245G>T
c.24G>T
c.383G>T (p.Cys128Phe)
n.705G>T
c.754G>T (p.Ala252Ser)
c.811G>T (p.Ala271Ser)
 ClinVar dbSNP
20g.63439645C=CA2374791949KCNQ2c.880G= (p.Ala294=)
n.618G=
c.361G= (p.Ala121=)
c.538G= (p.Ala180=)
n.1006G=
c.245G=
c.24G=
c.383G= (p.Cys128=)
n.705G=
c.754G= (p.Ala252=)
c.811G= (p.Ala271=)
20g.63439645C>GCA409652582KCNQ2c.880G>C (p.Ala294Pro)
n.618G>C
c.361G>C (p.Ala121Pro)
c.538G>C (p.Ala180Pro)
n.1006G>C
c.245G>C
c.24G>C
c.383G>C (p.Cys128Ser)
n.705G>C
c.754G>C (p.Ala252Pro)
c.811G>C (p.Ala271Pro)
 COSMIC COSMIC COSMIC COSMIC
20g.63439645C>TCA409652581KCNQ2c.880G>A (p.Ala294Thr)
n.618G>A
c.361G>A (p.Ala121Thr)
c.538G>A (p.Ala180Thr)
n.1006G>A
c.245G>A
c.24G>A
c.383G>A (p.Cys128Tyr)
n.705G>A
c.754G>A (p.Ala252Thr)
c.811G>A (p.Ala271Thr)
20g.63439645dupCA2586963927KCNQ2c.880dup (p.Ala294GlyfsTer?)
n.618dup
c.361dup (p.Ala121GlyfsTer?)
c.538dup (p.Ala180GlyfsTer?)
n.1006dup
c.245dup
c.24dup
c.383dup (p.Cys128TrpfsTer?)
n.705dup
c.754dup (p.Ala252GlyfsTer?)
c.811dup (p.Ala271GlyfsTer?)
 ClinVar
20g.63439646A>CCA409652584KCNQ2c.879T>G (p.Leu293=)
n.617T>G
c.360T>G (p.Leu120=)
c.537T>G (p.Leu179=)
n.1005T>G
c.244T>G
c.23T>G
c.382T>G (p.Cys128Gly)
n.704T>G
c.753T>G (p.Leu251=)
c.810T>G (p.Leu270=)
20g.63439646A>GCA409652586KCNQ2c.879T>C (p.Leu293=)
n.617T>C
c.360T>C (p.Leu120=)
c.537T>C (p.Leu179=)
n.1005T>C
c.244T>C
c.23T>C
c.382T>C (p.Cys128Arg)
n.704T>C
c.753T>C (p.Leu251=)
c.810T>C (p.Leu270=)
 gnomAD v4
20g.63439646A>TCA409652585KCNQ2c.879T>A (p.Leu293=)
n.617T>A
c.360T>A (p.Leu120=)
c.537T>A (p.Leu179=)
n.1005T>A
c.244T>A
c.23T>A
c.382T>A (p.Cys128Ser)
n.704T>A
c.753T>A (p.Leu251=)
c.810T>A (p.Leu270=)
20g.63439647A>CCA409652587KCNQ2c.878T>G (p.Leu293Arg)
n.616T>G
c.359T>G (p.Leu120Arg)
c.536T>G (p.Leu179Arg)
n.1004T>G
c.243T>G
c.22T>G
c.381T>G (p.Pro127=)
n.703T>G
c.752T>G (p.Leu251Arg)
c.809T>G (p.Leu270Arg)
20g.63439647A>GCA409652588KCNQ2c.878T>C (p.Leu293Pro)
n.616T>C
c.359T>C (p.Leu120Pro)
c.536T>C (p.Leu179Pro)
n.1004T>C
c.243T>C
c.22T>C
c.381T>C (p.Pro127=)
n.703T>C
c.752T>C (p.Leu251Pro)
c.809T>C (p.Leu270Pro)
 ClinVar dbSNP
20g.63439647A>TCA409652589KCNQ2c.878T>A (p.Leu293His)
n.616T>A
c.359T>A (p.Leu120His)
c.536T>A (p.Leu179His)
n.1004T>A
c.243T>A
c.22T>A
c.381T>A (p.Pro127=)
n.703T>A
c.752T>A (p.Leu251His)
c.809T>A (p.Leu270His)
20g.63439648G>ACA409652590KCNQ2c.877C>T (p.Leu293Phe)
n.615C>T
c.358C>T (p.Leu120Phe)
c.535C>T (p.Leu179Phe)
n.1003C>T
c.242C>T
c.21C>T
c.380C>T (p.Pro127Leu)
n.702C>T
c.751C>T (p.Leu251Phe)
c.808C>T (p.Leu270Phe)
 ClinVar dbSNP
20g.63439648G>CCA409652591KCNQ2c.877C>G (p.Leu293Val)
n.615C>G
c.358C>G (p.Leu120Val)
c.535C>G (p.Leu179Val)
n.1003C>G
c.242C>G
c.21C>G
c.380C>G (p.Pro127Arg)
n.702C>G
c.751C>G (p.Leu251Val)
c.808C>G (p.Leu270Val)
20g.63439648G=CA2374791951KCNQ2c.877C= (p.Leu293=)
n.615C=
c.358C= (p.Leu120=)
c.535C= (p.Leu179=)
n.1003C=
c.242C=
c.21C=
c.380C= (p.Pro127=)
n.702C=
c.751C= (p.Leu251=)
c.808C= (p.Leu270=)
20g.63439648G>TCA409652592KCNQ2c.877C>A (p.Leu293Ile)
n.615C>A
c.358C>A (p.Leu120Ile)
c.535C>A (p.Leu179Ile)
n.1003C>A
c.242C>A
c.21C>A
c.380C>A (p.Pro127His)
n.702C>A
c.751C>A (p.Leu251Ile)
c.808C>A (p.Leu270Ile)
20g.63439648_63439650delinsAGGCA2695230045KCNQ2c.875_877delinsCCT (p.Leu292_Leu293delinsProPhe)
n.613_615delinsCCT
c.356_358delinsCCT (p.Leu119_Leu120delinsProPhe)
c.533_535delinsCCT (p.Leu178_Leu179delinsProPhe)
n.1001_1003delinsCCT
c.240_242delinsCCT
c.19_21delinsCCT
c.378_380delinsCCT (p.Pro127Leu)
n.700_702delinsCCT
c.749_751delinsCCT (p.Leu250_Leu251delinsProPhe)
c.806_808delinsCCT (p.Leu269_Leu270delinsProPhe)
20g.63439648_63439650delinsGGACA2374791950KCNQ2c.875_877delinsTCC (p.Leu292=)
n.613_615delinsTCC
c.356_358delinsTCC (p.Leu119=)
c.533_535delinsTCC (p.Leu178=)
n.1001_1003delinsTCC
c.240_242delinsTCC
c.19_21delinsTCC
c.378_380delinsTCC (p.Ala126=)
n.700_702delinsTCC
c.749_751delinsTCC (p.Leu250=)
c.806_808delinsTCC (p.Leu269=)
20g.63439649G>ACA409652593KCNQ2c.876C>T (p.Leu292=)
n.614C>T
c.357C>T (p.Leu119=)
c.534C>T (p.Leu178=)
n.1002C>T
c.241C>T
c.20C>T
c.379C>T (p.Pro127Ser)
n.701C>T
c.750C>T (p.Leu250=)
c.807C>T (p.Leu269=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
20g.63439649G>CCA409652594KCNQ2c.876C>G (p.Leu292=)
n.614C>G
c.357C>G (p.Leu119=)
c.534C>G (p.Leu178=)
n.1002C>G
c.241C>G
c.20C>G
c.379C>G (p.Pro127Ala)
n.701C>G
c.750C>G (p.Leu250=)
c.807C>G (p.Leu269=)
 gnomAD v4 COSMIC
20g.63439649G=CA2374791952KCNQ2c.876C= (p.Leu292=)
n.614C=
c.357C= (p.Leu119=)
c.534C= (p.Leu178=)
n.1002C=
c.241C=
c.20C=
c.379C= (p.Pro127=)
n.701C=
c.750C= (p.Leu250=)
c.807C= (p.Leu269=)
20g.63439649G>TCA409652595KCNQ2c.876C>A (p.Leu292=)
n.614C>A
c.357C>A (p.Leu119=)
c.534C>A (p.Leu178=)
n.1002C>A
c.241C>A
c.20C>A
c.379C>A (p.Pro127Thr)
n.701C>A
c.750C>A (p.Leu250=)
c.807C>A (p.Leu269=)
20g.63439649_63439650delinsAGGCA315547KCNQ2c.875_876delinsCCT (p.Leu292ProfsTer?)
n.613_614delinsCCT
c.356_357delinsCCT (p.Leu119ProfsTer?)
c.533_534delinsCCT (p.Leu178ProfsTer?)
n.1001_1002delinsCCT
c.240_241delinsCCT
c.19_20delinsCCT
c.378_379delinsCCT (p.Pro127LeufsTer?)
n.700_701delinsCCT
c.749_750delinsCCT (p.Leu250ProfsTer?)
c.806_807delinsCCT (p.Leu269ProfsTer?)
 ClinVar dbSNP
20g.63439650A=CA2374791953KCNQ2c.875T= (p.Leu292=)
n.613T=
c.356T= (p.Leu119=)
c.533T= (p.Leu178=)
n.1001T=
c.240T=
c.19T=
c.378T= (p.Ala126=)
n.700T=
c.749T= (p.Leu250=)
c.806T= (p.Leu269=)
20g.63439650A>CCA409652596KCNQ2c.875T>G (p.Leu292Arg)
n.613T>G
c.356T>G (p.Leu119Arg)
c.533T>G (p.Leu178Arg)
n.1001T>G
c.240T>G
c.19T>G
c.378T>G (p.Ala126=)
n.700T>G
c.749T>G (p.Leu250Arg)
c.806T>G (p.Leu269Arg)
20g.63439650A>GCA16616483KCNQ2c.875T>C (p.Leu292Pro)
n.613T>C
c.356T>C (p.Leu119Pro)
c.533T>C (p.Leu178Pro)
n.1001T>C
c.240T>C
c.19T>C
c.378T>C (p.Ala126=)
n.700T>C
c.749T>C (p.Leu250Pro)
c.806T>C (p.Leu269Pro)
 ClinVar dbSNP
20g.63439650A>TCA409652597KCNQ2c.875T>A (p.Leu292His)
n.613T>A
c.356T>A (p.Leu119His)
c.533T>A (p.Leu178His)
n.1001T>A
c.240T>A
c.19T>A
c.378T>A (p.Ala126=)
n.700T>A
c.749T>A (p.Leu250His)
c.806T>A (p.Leu269His)
20g.63439651G>ACA409652598KCNQ2c.874C>T (p.Leu292Phe)
n.612C>T
c.355C>T (p.Leu119Phe)
c.532C>T (p.Leu178Phe)
n.1000C>T
c.239C>T
c.18C>T
c.377C>T (p.Ala126Val)
n.699C>T
c.748C>T (p.Leu250Phe)
c.805C>T (p.Leu269Phe)
 ClinVar
20g.63439651G>CCA409652600KCNQ2c.874C>G (p.Leu292Val)
n.612C>G
c.355C>G (p.Leu119Val)
c.532C>G (p.Leu178Val)
n.1000C>G
c.239C>G
c.18C>G
c.377C>G (p.Ala126Gly)
n.699C>G
c.748C>G (p.Leu250Val)
c.805C>G (p.Leu269Val)
20g.63439651G>TCA409652599KCNQ2c.874C>A (p.Leu292Ile)
n.612C>A
c.355C>A (p.Leu119Ile)
c.532C>A (p.Leu178Ile)
n.1000C>A
c.239C>A
c.18C>A
c.377C>A (p.Ala126Asp)
n.699C>A
c.748C>A (p.Leu250Ile)
c.805C>A (p.Leu269Ile)
20g.63439652C>ACA16044333KCNQ2c.873G>T (p.Arg291Ser)
n.611G>T
c.354G>T (p.Arg118Ser)
c.531G>T (p.Arg177Ser)
n.999G>T
c.238G>T
c.17G>T
c.376G>T (p.Ala126Ser)
n.698G>T
c.747G>T (p.Arg249Ser)
c.804G>T (p.Arg268Ser)
 ClinVar dbSNP
20g.63439652C=CA2374791954KCNQ2c.873G= (p.Arg291=)
n.611G=
c.354G= (p.Arg118=)
c.531G= (p.Arg177=)
n.999G=
c.238G=
c.17G=
c.376G= (p.Ala126=)
n.698G=
c.747G= (p.Arg249=)
c.804G= (p.Arg268=)
20g.63439652C>GCA409652601KCNQ2c.873G>C (p.Arg291Ser)
n.611G>C
c.354G>C (p.Arg118Ser)
c.531G>C (p.Arg177Ser)
n.999G>C
c.238G>C
c.17G>C
c.376G>C (p.Ala126Pro)
n.698G>C
c.747G>C (p.Arg249Ser)
c.804G>C (p.Arg268Ser)
 ClinVar dbSNP
20g.63439652C>TCA409652602KCNQ2c.873G>A (p.Arg291=)
n.611G>A
c.354G>A (p.Arg118=)
c.531G>A (p.Arg177=)
n.999G>A
c.238G>A
c.17G>A
c.376G>A (p.Ala126Thr)
n.698G>A
c.747G>A (p.Arg249=)
c.804G>A (p.Arg268=)
 gnomAD v4 COSMIC
20g.63439653C>ACA409652603KCNQ2c.872G>T (p.Arg291Met)
n.610G>T
c.353G>T (p.Arg118Met)
c.530G>T (p.Arg177Met)
n.998G>T
c.237G>T
c.16G>T
c.375G>T (p.Gln125His)
n.697G>T
c.746G>T (p.Arg249Met)
c.803G>T (p.Arg268Met)
20g.63439653C>GCA409652604KCNQ2c.872G>C (p.Arg291Thr)
n.610G>C
c.353G>C (p.Arg118Thr)
c.530G>C (p.Arg177Thr)
n.998G>C
c.237G>C
c.16G>C
c.375G>C (p.Gln125His)
n.697G>C
c.746G>C (p.Arg249Thr)
c.803G>C (p.Arg268Thr)
20g.63439653C>TCA409652605KCNQ2c.872G>A (p.Arg291Lys)
n.610G>A
c.353G>A (p.Arg118Lys)
c.530G>A (p.Arg177Lys)
n.998G>A
c.237G>A
c.16G>A
c.375G>A (p.Gln125=)
n.697G>A
c.746G>A (p.Arg249Lys)
c.803G>A (p.Arg268Lys)
20g.63439654T>ACA409652606KCNQ2c.871A>T (p.Arg291Trp)
n.609A>T
c.352A>T (p.Arg118Trp)
c.529A>T (p.Arg177Trp)
n.997A>T
c.236A>T
c.15A>T
c.374A>T (p.Gln125Leu)
n.696A>T
c.745A>T (p.Arg249Trp)
c.802A>T (p.Arg268Trp)
20g.63439654T>CCA409652607KCNQ2c.871A>G (p.Arg291Gly)
n.609A>G
c.352A>G (p.Arg118Gly)
c.529A>G (p.Arg177Gly)
n.997A>G
c.236A>G
c.15A>G
c.374A>G (p.Gln125Arg)
n.696A>G
c.745A>G (p.Arg249Gly)
c.802A>G (p.Arg268Gly)
 ClinVar
20g.63439654T>GCA409652608KCNQ2c.871A>C (p.Arg291=)
n.609A>C
c.352A>C (p.Arg118=)
c.529A>C (p.Arg177=)
n.997A>C
c.236A>C
c.15A>C
c.374A>C (p.Gln125Pro)
n.696A>C
c.745A>C (p.Arg249=)
c.802A>C (p.Arg268=)
20g.63439655G>ACA409652611KCNQ2c.870C>T (p.Gly290=)
n.608C>T
c.351C>T (p.Gly117=)
c.528C>T (p.Gly176=)
n.996C>T
c.235C>T
c.14C>T
c.373C>T (p.Gln125Ter)
n.695C>T
c.744C>T (p.Gly248=)
c.801C>T (p.Gly267=)
 ClinVar dbSNP gnomAD v4
20g.63439655G>CCA409652610KCNQ2c.870C>G (p.Gly290=)
n.608C>G
c.351C>G (p.Gly117=)
c.528C>G (p.Gly176=)
n.996C>G
c.235C>G
c.14C>G
c.373C>G (p.Gln125Glu)
n.695C>G
c.744C>G (p.Gly248=)
c.801C>G (p.Gly267=)
20g.63439655G>TCA409652609KCNQ2c.870C>A (p.Gly290=)
n.608C>A
c.351C>A (p.Gly117=)
c.528C>A (p.Gly176=)
n.996C>A
c.235C>A
c.14C>A
c.373C>A (p.Gln125Lys)
n.695C>A
c.744C>A (p.Gly248=)
c.801C>A (p.Gly267=)
20g.63439656C>ACA409652612KCNQ2c.869G>T (p.Gly290Val)
n.607G>T
c.350G>T (p.Gly117Val)
c.527G>T (p.Gly176Val)
n.995G>T
c.234G>T
c.13G>T
c.372G>T (p.Arg124=)
n.694G>T
c.743G>T (p.Gly248Val)
c.800G>T (p.Gly267Val)
 ClinVar dbSNP
20g.63439656C=CA2374791955KCNQ2c.869G= (p.Gly290=)
n.607G=
c.350G= (p.Gly117=)
c.527G= (p.Gly176=)
n.995G=
c.234G=
c.13G=
c.372G= (p.Arg124=)
n.694G=
c.743G= (p.Gly248=)
c.800G= (p.Gly267=)
20g.63439656C>GCA409652613KCNQ2c.869G>C (p.Gly290Ala)
n.607G>C
c.350G>C (p.Gly117Ala)
c.527G>C (p.Gly176Ala)
n.995G>C
c.234G>C
c.13G>C
c.372G>C (p.Arg124=)
n.694G>C
c.743G>C (p.Gly248Ala)
c.800G>C (p.Gly267Ala)
20g.63439656C>TCA130534KCNQ2c.869G>A (p.Gly290Asp)
n.607G>A
c.350G>A (p.Gly117Asp)
c.527G>A (p.Gly176Asp)
n.995G>A
c.234G>A
c.13G>A
c.372G>A (p.Arg124=)
n.694G>A
c.743G>A (p.Gly248Asp)
c.800G>A (p.Gly267Asp)
 ClinVar dbSNP
20g.63439657C>ACA409652614KCNQ2c.868G>T (p.Gly290Cys)
n.606G>T
c.349G>T (p.Gly117Cys)
c.526G>T (p.Gly176Cys)
n.994G>T
c.233G>T
c.12G>T
c.371G>T (p.Arg124Leu)
n.693G>T
c.742G>T (p.Gly248Cys)
c.799G>T (p.Gly267Cys)
 ClinVar
20g.63439657C=CA2374791956KCNQ2c.868G= (p.Gly290=)
n.606G=
c.349G= (p.Gly117=)
c.526G= (p.Gly176=)
n.994G=
c.233G=
c.12G=
c.371G= (p.Arg124=)
n.693G=
c.742G= (p.Gly248=)
c.799G= (p.Gly267=)
20g.63439657C>GCA409652615KCNQ2c.868G>C (p.Gly290Arg)
n.606G>C
c.349G>C (p.Gly117Arg)
c.526G>C (p.Gly176Arg)
n.994G>C
c.233G>C
c.12G>C
c.371G>C (p.Arg124Pro)
n.693G>C
c.742G>C (p.Gly248Arg)
c.799G>C (p.Gly267Arg)
20g.63439657C>TCA10654811KCNQ2c.868G>A (p.Gly290Ser)
n.606G>A
c.349G>A (p.Gly117Ser)
c.526G>A (p.Gly176Ser)
n.994G>A
c.233G>A
c.12G>A
c.371G>A (p.Arg124Gln)
n.693G>A
c.742G>A (p.Gly248Ser)
c.799G>A (p.Gly267Ser)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439658G>ACA9958706KCNQ2c.867C>T (p.Asn289=)
n.605C>T
c.348C>T (p.Asn116=)
c.525C>T (p.Asn175=)
n.993C>T
c.232C>T
c.11C>T
c.370C>T (p.Arg124Trp)
n.692C>T
c.741C>T (p.Asn247=)
c.798C>T (p.Asn266=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
20g.63439658G>CCA409652616KCNQ2c.867C>G (p.Asn289Lys)
n.605C>G
c.348C>G (p.Asn116Lys)
c.525C>G (p.Asn175Lys)
n.993C>G
c.232C>G
c.11C>G
c.370C>G (p.Arg124Gly)
n.692C>G
c.741C>G (p.Asn247Lys)
c.798C>G (p.Asn266Lys)
20g.63439658G=CA2374791957KCNQ2c.867C= (p.Asn289=)
n.605C=
c.348C= (p.Asn116=)
c.525C= (p.Asn175=)
n.993C=
c.232C=
c.11C=
c.370C= (p.Arg124=)
n.692C=
c.741C= (p.Asn247=)
c.798C= (p.Asn266=)
20g.63439658G>TCA409652617KCNQ2c.867C>A (p.Asn289Lys)
n.605C>A
c.348C>A (p.Asn116Lys)
c.525C>A (p.Asn175Lys)
n.993C>A
c.232C>A
c.11C>A
c.370C>A (p.Arg124=)
n.692C>A
c.741C>A (p.Asn247Lys)
c.798C>A (p.Asn266Lys)
 gnomAD v4
20g.63439659T>ACA409652618KCNQ2c.866A>T (p.Asn289Ile)
n.604A>T
c.347A>T (p.Asn116Ile)
c.524A>T (p.Asn175Ile)
n.992A>T
c.231A>T
c.10A>T
c.369A>T (p.Glu123Asp)
n.691A>T
c.740A>T (p.Asn247Ile)
c.797A>T (p.Asn266Ile)
20g.63439659T>CCA409652619KCNQ2c.866A>G (p.Asn289Ser)
n.604A>G
c.347A>G (p.Asn116Ser)
c.524A>G (p.Asn175Ser)
n.992A>G
c.231A>G
c.10A>G
c.369A>G (p.Glu123=)
n.691A>G
c.740A>G (p.Asn247Ser)
c.797A>G (p.Asn266Ser)
20g.63439659T>GCA409652620KCNQ2c.866A>C (p.Asn289Thr)
n.604A>C
c.347A>C (p.Asn116Thr)
c.524A>C (p.Asn175Thr)
n.992A>C
c.231A>C
c.10A>C
c.369A>C (p.Glu123Asp)
n.691A>C
c.740A>C (p.Asn247Thr)
c.797A>C (p.Asn266Thr)
20g.63439660T>ACA409652623KCNQ2c.865A>T (p.Asn289Tyr)
n.603A>T
c.346A>T (p.Asn116Tyr)
c.523A>T (p.Asn175Tyr)
n.991A>T
c.230A>T
c.9A>T
c.368A>T (p.Glu123Val)
n.690A>T
c.739A>T (p.Asn247Tyr)
c.796A>T (p.Asn266Tyr)
20g.63439660T>CCA409652622KCNQ2c.865A>G (p.Asn289Asp)
n.603A>G
c.346A>G (p.Asn116Asp)
c.523A>G (p.Asn175Asp)
n.991A>G
c.230A>G
c.9A>G
c.368A>G (p.Glu123Gly)
n.690A>G
c.739A>G (p.Asn247Asp)
c.796A>G (p.Asn266Asp)
20g.63439660T>GCA409652621KCNQ2c.865A>C (p.Asn289His)
n.603A>C
c.346A>C (p.Asn116His)
c.523A>C (p.Asn175His)
n.991A>C
c.230A>C
c.9A>C
c.368A>C (p.Glu123Ala)
n.690A>C
c.739A>C (p.Asn247His)
c.796A>C (p.Asn266His)
20g.63439661C>ACA409652624KCNQ2c.864G>T (p.Trp288Cys)
n.602G>T
c.345G>T (p.Trp115Cys)
c.522G>T (p.Trp174Cys)
n.990G>T
c.229G>T
c.8G>T
c.367G>T (p.Glu123Ter)
n.689G>T
c.738G>T (p.Trp246Cys)
c.795G>T (p.Trp265Cys)
20g.63439661C=CA2374791958KCNQ2c.864G= (p.Trp288=)
n.602G=
c.345G= (p.Trp115=)
c.522G= (p.Trp174=)
n.990G=
c.229G=
c.8G=
c.367G= (p.Glu123=)
n.689G=
c.738G= (p.Trp246=)
c.795G= (p.Trp265=)
20g.63439661C>GCA409652625KCNQ2c.864G>C (p.Trp288Cys)
n.602G>C
c.345G>C (p.Trp115Cys)
c.522G>C (p.Trp174Cys)
n.990G>C
c.229G>C
c.8G>C
c.367G>C (p.Glu123Gln)
n.689G>C
c.738G>C (p.Trp246Cys)
c.795G>C (p.Trp265Cys)
 ClinVar dbSNP
20g.63439661C>TCA409652626KCNQ2c.864G>A (p.Trp288Ter)
n.602G>A
c.345G>A (p.Trp115Ter)
c.522G>A (p.Trp174Ter)
n.990G>A
c.229G>A
c.8G>A
c.367G>A (p.Glu123Lys)
n.689G>A
c.738G>A (p.Trp246Ter)
c.795G>A (p.Trp265Ter)
20g.63439662C>ACA409652627KCNQ2c.863G>T (p.Trp288Leu)
n.601G>T
c.344G>T (p.Trp115Leu)
c.521G>T (p.Trp174Leu)
n.989G>T
c.228G>T
c.7G>T
c.366G>T (p.Leu122=)
n.688G>T
c.737G>T (p.Trp246Leu)
c.794G>T (p.Trp265Leu)
20g.63439662C>GCA409652628KCNQ2c.863G>C (p.Trp288Ser)
n.601G>C
c.344G>C (p.Trp115Ser)
c.521G>C (p.Trp174Ser)
n.989G>C
c.228G>C
c.7G>C
c.366G>C (p.Leu122=)
n.688G>C
c.737G>C (p.Trp246Ser)
c.794G>C (p.Trp265Ser)
20g.63439662C>TCA409652629KCNQ2c.863G>A (p.Trp288Ter)
n.601G>A
c.344G>A (p.Trp115Ter)
c.521G>A (p.Trp174Ter)
n.989G>A
c.228G>A
c.7G>A
c.366G>A (p.Leu122=)
n.688G>A
c.737G>A (p.Trp246Ter)
c.794G>A (p.Trp265Ter)
20g.63439663A>CCA409652630KCNQ2c.862T>G (p.Trp288Gly)
n.600T>G
c.343T>G (p.Trp115Gly)
c.520T>G (p.Trp174Gly)
n.988T>G
c.227T>G
c.6T>G
c.365T>G (p.Leu122Arg)
n.687T>G
c.736T>G (p.Trp246Gly)
c.793T>G (p.Trp265Gly)
20g.63439663A>GCA409652631KCNQ2c.862T>C (p.Trp288Arg)
n.600T>C
c.343T>C (p.Trp115Arg)
c.520T>C (p.Trp174Arg)
n.988T>C
c.227T>C
c.6T>C
c.365T>C (p.Leu122Pro)
n.687T>C
c.736T>C (p.Trp246Arg)
c.793T>C (p.Trp265Arg)
20g.63439663A>TCA409652632KCNQ2c.862T>A (p.Trp288Arg)
n.600T>A
c.343T>A (p.Trp115Arg)
c.520T>A (p.Trp174Arg)
n.988T>A
c.227T>A
c.6T>A
c.365T>A (p.Leu122Gln)
n.687T>A
c.736T>A (p.Trp246Arg)
c.793T>A (p.Trp265Arg)
20g.63439664G>ACA9958708KCNQ2c.861C>T (p.Thr287=)
n.599C>T
c.342C>T (p.Thr114=)
c.519C>T (p.Thr173=)
n.987C>T
c.226C>T
c.5C>T
c.364C>T (p.Leu122=)
n.686C>T
c.735C>T (p.Thr245=)
c.792C>T (p.Thr264=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439664G>CCA9958707KCNQ2c.861C>G (p.Thr287=)
n.599C>G
c.342C>G (p.Thr114=)
c.519C>G (p.Thr173=)
n.987C>G
c.226C>G
c.5C>G
c.364C>G (p.Leu122Val)
n.686C>G
c.735C>G (p.Thr245=)
c.792C>G (p.Thr264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439664G=CA2374791959KCNQ2c.861C= (p.Thr287=)
n.599C=
c.342C= (p.Thr114=)
c.519C= (p.Thr173=)
n.987C=
c.226C=
c.5C=
c.364C= (p.Leu122=)
n.686C=
c.735C= (p.Thr245=)
c.792C= (p.Thr264=)
20g.63439664G>TCA409652633KCNQ2c.861C>A (p.Thr287=)
n.599C>A
c.342C>A (p.Thr114=)
c.519C>A (p.Thr173=)
n.987C>A
c.226C>A
c.5C>A
c.364C>A (p.Leu122Met)
n.686C>A
c.735C>A (p.Thr245=)
c.792C>A (p.Thr264=)
20g.63439665G>ACA234149KCNQ2c.860C>T (p.Thr287Ile)
n.598C>T
c.341C>T (p.Thr114Ile)
c.518C>T (p.Thr173Ile)
n.986C>T
c.225C>T
c.4C>T
c.363C>T (p.Asp121=)
n.685C>T
c.734C>T (p.Thr245Ile)
c.791C>T (p.Thr264Ile)
 ClinVar dbSNP
20g.63439665G>CCA409652634KCNQ2c.860C>G (p.Thr287Ser)
n.598C>G
c.341C>G (p.Thr114Ser)
c.518C>G (p.Thr173Ser)
n.986C>G
c.225C>G
c.4C>G
c.363C>G (p.Asp121Glu)
n.685C>G
c.734C>G (p.Thr245Ser)
c.791C>G (p.Thr264Ser)
20g.63439665G=CA2374791960KCNQ2c.860C= (p.Thr287=)
n.598C=
c.341C= (p.Thr114=)
c.518C= (p.Thr173=)
n.986C=
c.225C=
c.4C=
c.363C= (p.Asp121=)
n.685C=
c.734C= (p.Thr245=)
c.791C= (p.Thr264=)
20g.63439665G>TCA10654812KCNQ2c.860C>A (p.Thr287Asn)
n.598C>A
c.341C>A (p.Thr114Asn)
c.518C>A (p.Thr173Asn)
n.986C>A
c.225C>A
c.4C>A
c.363C>A (p.Asp121Glu)
n.685C>A
c.734C>A (p.Thr245Asn)
c.791C>A (p.Thr264Asn)
 ClinVar dbSNP
20g.63439666T>ACA409652635KCNQ2c.859A>T (p.Thr287Ser)
n.597A>T
c.340A>T (p.Thr114Ser)
c.517A>T (p.Thr173Ser)
n.985A>T
c.224A>T
c.3A>T
c.362A>T (p.Asp121Val)
n.684A>T
c.733A>T (p.Thr245Ser)
c.790A>T (p.Thr264Ser)
20g.63439666T>CCA409652636KCNQ2c.859A>G (p.Thr287Ala)
n.597A>G
c.340A>G (p.Thr114Ala)
c.517A>G (p.Thr173Ala)
n.985A>G
c.224A>G
c.3A>G
c.362A>G (p.Asp121Gly)
n.684A>G
c.733A>G (p.Thr245Ala)
c.790A>G (p.Thr264Ala)
20g.63439666T>GCA409652637KCNQ2c.859A>C (p.Thr287Pro)
n.597A>C
c.340A>C (p.Thr114Pro)
c.517A>C (p.Thr173Pro)
n.985A>C
c.224A>C
c.3A>C
c.362A>C (p.Asp121Ala)
n.684A>C
c.733A>C (p.Thr245Pro)
c.790A>C (p.Thr264Pro)
20g.63439667C>ACA409652638KCNQ2c.858G>T (p.Gln286His)
n.596G>T
c.339G>T (p.Gln113His)
c.516G>T (p.Gln172His)
n.984G>T
c.223G>T
c.2G>T
c.361G>T (p.Asp121Tyr)
n.683G>T
c.732G>T (p.Gln244His)
c.789G>T (p.Gln263His)
20g.63439667C=CA2374791961KCNQ2c.858G= (p.Gln286=)
n.596G=
c.339G= (p.Gln113=)
c.516G= (p.Gln172=)
n.984G=
c.223G=
c.2G=
c.361G= (p.Asp121=)
n.683G=
c.732G= (p.Gln244=)
c.789G= (p.Gln263=)
20g.63439667C>GCA409652640KCNQ2c.858G>C (p.Gln286His)
n.596G>C
c.339G>C (p.Gln113His)
c.516G>C (p.Gln172His)
n.984G>C
c.223G>C
c.2G>C
c.361G>C (p.Asp121His)
n.683G>C
c.732G>C (p.Gln244His)
c.789G>C (p.Gln263His)
20g.63439667C>TCA317456381KCNQ2c.858G>A (p.Gln286=)
n.596G>A
c.339G>A (p.Gln113=)
c.516G>A (p.Gln172=)
n.984G>A
c.223G>A
c.2G>A
c.361G>A (p.Asp121Asn)
n.683G>A
c.732G>A (p.Gln244=)
c.789G>A (p.Gln263=)
 ClinVar dbSNP
20g.63439668T>ACA409652643KCNQ2c.857A>T (p.Gln286Leu)
n.595A>T
c.338A>T (p.Gln113Leu)
c.515A>T (p.Gln172Leu)
n.983A>T
c.222A>T
c.1A>T
c.360A>T (p.Pro120=)
n.682A>T
c.731A>T (p.Gln244Leu)
c.788A>T (p.Gln263Leu)
20g.63439668T>CCA409652642KCNQ2c.857A>G (p.Gln286Arg)
n.595A>G
c.338A>G (p.Gln113Arg)
c.515A>G (p.Gln172Arg)
n.983A>G
c.222A>G
c.1A>G
c.360A>G (p.Pro120=)
n.682A>G
c.731A>G (p.Gln244Arg)
c.788A>G (p.Gln263Arg)
20g.63439668T>GCA409652641KCNQ2c.857A>C (p.Gln286Pro)
n.595A>C
c.338A>C (p.Gln113Pro)
c.515A>C (p.Gln172Pro)
n.983A>C
c.222A>C
c.1A>C
c.360A>C (p.Pro120=)
n.682A>C
c.731A>C (p.Gln244Pro)
c.788A>C (p.Gln263Pro)
 ClinVar
20g.63439668T=CA2374791962KCNQ2c.857A= (p.Gln286=)
n.595A=
c.338A= (p.Gln113=)
c.515A= (p.Gln172=)
n.983A=
c.222A=
c.1A=
c.360A= (p.Pro120=)
n.682A=
c.731A= (p.Gln244=)
c.788A= (p.Gln263=)
20g.63439669G>ACA409652644KCNQ2c.856C>T (p.Gln286Ter)
n.594C>T
c.337C>T (p.Gln113Ter)
c.514C>T (p.Gln172Ter)
n.982C>T
c.221C>T
c.359C>T (p.Pro120Leu)
n.681C>T
c.730C>T (p.Gln244Ter)
c.787C>T (p.Gln263Ter)
20g.63439669G>CCA409652645KCNQ2c.856C>G (p.Gln286Glu)
n.594C>G
c.337C>G (p.Gln113Glu)
c.514C>G (p.Gln172Glu)
n.982C>G
c.221C>G
c.359C>G (p.Pro120Arg)
n.681C>G
c.730C>G (p.Gln244Glu)
c.787C>G (p.Gln263Glu)
 ClinVar
20g.63439669G>TCA409652646KCNQ2c.856C>A (p.Gln286Lys)
n.594C>A
c.337C>A (p.Gln113Lys)
c.514C>A (p.Gln172Lys)
n.982C>A
c.221C>A
c.359C>A (p.Pro120Gln)
n.681C>A
c.730C>A (p.Gln244Lys)
c.787C>A (p.Gln263Lys)
20g.63439673dupCA658799387KCNQ2c.856dup (p.Gln286ProfsTer?)
n.594dup
c.337dup (p.Gln113ProfsTer?)
c.514dup (p.Gln172ProfsTer?)
n.982dup
c.221dup
c.359dup (p.Asp121ArgfsTer?)
n.681dup
c.730dup (p.Gln244ProfsTer?)
c.787dup (p.Gln263ProfsTer?)
 ClinVar dbSNP
20g.63439673delCA2573157304KCNQ2c.856del (p.Gln286ArgfsTer?)
n.594del
c.337del (p.Gln113ArgfsTer?)
c.514del (p.Gln172ArgfsTer?)
n.982del
c.221del
c.359del (p.Pro120GlnfsTer?)
n.681del
c.730del (p.Gln244ArgfsTer?)
c.787del (p.Gln263ArgfsTer?)
 ClinVar dbSNP
20g.63439670G>ACA317456386KCNQ2c.855C>T (p.Pro285=)
n.593C>T
c.336C>T (p.Pro112=)
c.513C>T (p.Pro171=)
n.981C>T
c.220C>T
c.358C>T (p.Pro120Ser)
n.680C>T
c.729C>T (p.Pro243=)
c.786C>T (p.Pro262=)
 dbSNP gnomAD v4
20g.63439670G>CCA9958709KCNQ2c.855C>G (p.Pro285=)
n.593C>G
c.336C>G (p.Pro112=)
c.513C>G (p.Pro171=)
n.981C>G
c.220C>G
c.358C>G (p.Pro120Ala)
n.680C>G
c.729C>G (p.Pro243=)
c.786C>G (p.Pro262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439670G=CA2374791963KCNQ2c.855C= (p.Pro285=)
n.593C=
c.336C= (p.Pro112=)
c.513C= (p.Pro171=)
n.981C=
c.220C=
c.358C= (p.Pro120=)
n.680C=
c.729C= (p.Pro243=)
c.786C= (p.Pro262=)
20g.63439670G>TCA409652649KCNQ2c.855C>A (p.Pro285=)
n.593C>A
c.336C>A (p.Pro112=)
c.513C>A (p.Pro171=)
n.981C>A
c.220C>A
c.358C>A (p.Pro120Thr)
n.680C>A
c.729C>A (p.Pro243=)
c.786C>A (p.Pro262=)
20g.63439671G>ACA409652651KCNQ2c.854C>T (p.Pro285Leu)
n.592C>T
c.335C>T (p.Pro112Leu)
c.512C>T (p.Pro171Leu)
n.980C>T
c.219C>T
c.357C>T (p.Pro119=)
n.679C>T
c.728C>T (p.Pro243Leu)
c.785C>T (p.Pro262Leu)
 ClinVar dbSNP
20g.63439671G>CCA409652653KCNQ2c.854C>G (p.Pro285Arg)
n.592C>G
c.335C>G (p.Pro112Arg)
c.512C>G (p.Pro171Arg)
n.980C>G
c.219C>G
c.357C>G (p.Pro119=)
n.679C>G
c.728C>G (p.Pro243Arg)
c.785C>G (p.Pro262Arg)
20g.63439671G=CA2374791964KCNQ2c.854C= (p.Pro285=)
n.592C=
c.335C= (p.Pro112=)
c.512C= (p.Pro171=)
n.980C=
c.219C=
c.357C= (p.Pro119=)
n.679C=
c.728C= (p.Pro243=)
c.785C= (p.Pro262=)
20g.63439671G>TCA10654813KCNQ2c.854C>A (p.Pro285His)
n.592C>A
c.335C>A (p.Pro112His)
c.512C>A (p.Pro171His)
n.980C>A
c.219C>A
c.357C>A (p.Pro119=)
n.679C>A
c.728C>A (p.Pro243His)
c.785C>A (p.Pro262His)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439672G>ACA409652655KCNQ2c.853C>T (p.Pro285Ser)
n.591C>T
c.334C>T (p.Pro112Ser)
c.511C>T (p.Pro171Ser)
n.979C>T
c.218C>T
c.356C>T (p.Pro119Leu)
n.678C>T
c.727C>T (p.Pro243Ser)
c.784C>T (p.Pro262Ser)
 ClinVar dbSNP
20g.63439672G>CCA409652656KCNQ2c.853C>G (p.Pro285Ala)
n.591C>G
c.334C>G (p.Pro112Ala)
c.511C>G (p.Pro171Ala)
n.979C>G
c.218C>G
c.356C>G (p.Pro119Arg)
n.678C>G
c.727C>G (p.Pro243Ala)
c.784C>G (p.Pro262Ala)
20g.63439672G=CA2374791965KCNQ2c.853C= (p.Pro285=)
n.591C=
c.334C= (p.Pro112=)
c.511C= (p.Pro171=)
n.979C=
c.218C=
c.356C= (p.Pro119=)
n.678C=
c.727C= (p.Pro243=)
c.784C= (p.Pro262=)
20g.63439672G>TCA409652658KCNQ2c.853C>A (p.Pro285Thr)
n.591C>A
c.334C>A (p.Pro112Thr)
c.511C>A (p.Pro171Thr)
n.979C>A
c.218C>A
c.356C>A (p.Pro119His)
n.678C>A
c.727C>A (p.Pro243Thr)
c.784C>A (p.Pro262Thr)
20g.63439673G>ACA409652659KCNQ2c.852C>T (p.Tyr284=)
n.590C>T
c.333C>T (p.Tyr111=)
c.510C>T (p.Tyr170=)
n.978C>T
c.217C>T
c.355C>T (p.Pro119Ser)
n.677C>T
c.726C>T (p.Tyr242=)
c.783C>T (p.Tyr261=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63439673G>CCA409652660KCNQ2c.852C>G (p.Tyr284Ter)
n.590C>G
c.333C>G (p.Tyr111Ter)
c.510C>G (p.Tyr170Ter)
n.978C>G
c.217C>G
c.355C>G (p.Pro119Ala)
n.677C>G
c.726C>G (p.Tyr242Ter)
c.783C>G (p.Tyr261Ter)
20g.63439673G=CA2374791966KCNQ2c.852C= (p.Tyr284=)
n.590C=
c.333C= (p.Tyr111=)
c.510C= (p.Tyr170=)
n.978C=
c.217C=
c.355C= (p.Pro119=)
n.677C=
c.726C= (p.Tyr242=)
c.783C= (p.Tyr261=)
20g.63439673G>TCA409652661KCNQ2c.852C>A (p.Tyr284Ter)
n.590C>A
c.333C>A (p.Tyr111Ter)
c.510C>A (p.Tyr170Ter)
n.978C>A
c.217C>A
c.355C>A (p.Pro119Thr)
n.677C>A
c.726C>A (p.Tyr242Ter)
c.783C>A (p.Tyr261Ter)
20g.63439674T>ACA409652662KCNQ2c.851A>T (p.Tyr284Phe)
n.589A>T
c.332A>T (p.Tyr111Phe)
c.509A>T (p.Tyr170Phe)
n.977A>T
c.216A>T
c.354A>T (p.Val118=)
n.676A>T
c.725A>T (p.Tyr242Phe)
c.782A>T (p.Tyr261Phe)
20g.63439674T>CCA340673KCNQ2c.851A>G (p.Tyr284Cys)
n.589A>G
c.332A>G (p.Tyr111Cys)
c.509A>G (p.Tyr170Cys)
n.977A>G
c.216A>G
c.354A>G (p.Val118=)
n.676A>G
c.725A>G (p.Tyr242Cys)
c.782A>G (p.Tyr261Cys)
 ClinVar dbSNP
20g.63439674T>GCA409652663KCNQ2c.851A>C (p.Tyr284Ser)
n.589A>C
c.332A>C (p.Tyr111Ser)
c.509A>C (p.Tyr170Ser)
n.977A>C
c.216A>C
c.354A>C (p.Val118=)
n.676A>C
c.725A>C (p.Tyr242Ser)
c.782A>C (p.Tyr261Ser)
20g.63439674T=CA2374791967KCNQ2c.851A= (p.Tyr284=)
n.589A=
c.332A= (p.Tyr111=)
c.509A= (p.Tyr170=)
n.977A=
c.216A=
c.354A= (p.Val118=)
n.676A=
c.725A= (p.Tyr242=)
c.782A= (p.Tyr261=)
20g.63439675A=CA2374791968KCNQ2c.850T= (p.Tyr284=)
n.588T=
c.331T= (p.Tyr111=)
c.508T= (p.Tyr170=)
n.976T=
c.215T=
c.353T= (p.Val118=)
n.675T=
c.724T= (p.Tyr242=)
c.781T= (p.Tyr261=)
20g.63439675A>CCA347949KCNQ2c.850T>G (p.Tyr284Asp)
n.588T>G
c.331T>G (p.Tyr111Asp)
c.508T>G (p.Tyr170Asp)
n.976T>G
c.215T>G
c.353T>G (p.Val118Gly)
n.675T>G
c.724T>G (p.Tyr242Asp)
c.781T>G (p.Tyr261Asp)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439675A>GCA409652665KCNQ2c.850T>C (p.Tyr284His)
n.588T>C
c.331T>C (p.Tyr111His)
c.508T>C (p.Tyr170His)
n.976T>C
c.215T>C
c.353T>C (p.Val118Ala)
n.675T>C
c.724T>C (p.Tyr242His)
c.781T>C (p.Tyr261His)
 ClinVar
20g.63439675A>TCA409652666KCNQ2c.850T>A (p.Tyr284Asn)
n.588T>A
c.331T>A (p.Tyr111Asn)
c.508T>A (p.Tyr170Asn)
n.976T>A
c.215T>A
c.353T>A (p.Val118Glu)
n.675T>A
c.724T>A (p.Tyr242Asn)
c.781T>A (p.Tyr261Asn)
 ClinVar
20g.63439675_63439676dupCA2695230046KCNQ2c.849_850dup (p.Tyr284CysfsTer?)
n.587_588dup
c.330_331dup (p.Tyr111CysfsTer?)
c.507_508dup (p.Tyr170CysfsTer?)
n.975_976dup
c.214_215dup
c.352_353dup (p.Pro119TyrfsTer?)
n.674_675dup
c.723_724dup (p.Tyr242CysfsTer?)
c.780_781dup (p.Tyr261CysfsTer?)
20g.63439676C>ACA409652669KCNQ2c.849G>T (p.Lys283Asn)
n.587G>T
c.330G>T (p.Lys110Asn)
c.507G>T (p.Lys169Asn)
n.975G>T
c.214G>T
c.352G>T (p.Val118Leu)
n.674G>T
c.723G>T (p.Lys241Asn)
c.780G>T (p.Lys260Asn)
 COSMIC COSMIC COSMIC COSMIC
20g.63439676C=CA2374791969KCNQ2c.849G= (p.Lys283=)
n.587G=
c.330G= (p.Lys110=)
c.507G= (p.Lys169=)
n.975G=
c.214G=
c.352G= (p.Val118=)
n.674G=
c.723G= (p.Lys241=)
c.780G= (p.Lys260=)
20g.63439676C>GCA409652668KCNQ2c.849G>C (p.Lys283Asn)
n.587G>C
c.330G>C (p.Lys110Asn)
c.507G>C (p.Lys169Asn)
n.975G>C
c.214G>C
c.352G>C (p.Val118Leu)
n.674G>C
c.723G>C (p.Lys241Asn)
c.780G>C (p.Lys260Asn)
20g.63439676C>TCA317456394KCNQ2c.849G>A (p.Lys283=)
n.587G>A
c.330G>A (p.Lys110=)
c.507G>A (p.Lys169=)
n.975G>A
c.214G>A
c.352G>A (p.Val118Ile)
n.674G>A
c.723G>A (p.Lys241=)
c.780G>A (p.Lys260=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63439676_63439677delinsCTCA2374791970KCNQ2c.848_849delinsAG (p.Lys283=)
n.586_587delinsAG
c.329_330delinsAG (p.Lys110=)
c.506_507delinsAG (p.Lys169=)
n.974_975delinsAG
c.213_214delinsAG
c.351_352delinsAG (p.Gln117=)
n.673_674delinsAG
c.722_723delinsAG (p.Lys241=)
c.779_780delinsAG (p.Lys260=)
20g.63439677T>ACA409652671KCNQ2c.848A>T (p.Lys283Met)
n.586A>T
c.329A>T (p.Lys110Met)
c.506A>T (p.Lys169Met)
n.974A>T
c.213A>T
c.351A>T (p.Gln117His)
n.673A>T
c.722A>T (p.Lys241Met)
c.779A>T (p.Lys260Met)
20g.63439677T>CCA315406KCNQ2c.848A>G (p.Lys283Arg)
n.586A>G
c.329A>G (p.Lys110Arg)
c.506A>G (p.Lys169Arg)
n.974A>G
c.213A>G
c.351A>G (p.Gln117=)
n.673A>G
c.722A>G (p.Lys241Arg)
c.779A>G (p.Lys260Arg)
 ClinVar dbSNP
20g.63439677T>GCA409652672KCNQ2c.848A>C (p.Lys283Thr)
n.586A>C
c.329A>C (p.Lys110Thr)
c.506A>C (p.Lys169Thr)
n.974A>C
c.213A>C
c.351A>C (p.Gln117His)
n.673A>C
c.722A>C (p.Lys241Thr)
c.779A>C (p.Lys260Thr)
20g.63439677T=CA2374791971KCNQ2c.848A= (p.Lys283=)
n.586A=
c.329A= (p.Lys110=)
c.506A= (p.Lys169=)
n.974A=
c.213A=
c.351A= (p.Gln117=)
n.673A=
c.722A= (p.Lys241=)
c.779A= (p.Lys260=)
20g.63439678delCA658799388KCNQ2c.848del (p.Lys283SerfsTer?)
n.586del
c.329del (p.Lys110SerfsTer?)
c.506del (p.Lys169SerfsTer?)
n.974del
c.213del
c.351del (p.Val118TyrfsTer?)
n.673del
c.722del (p.Lys241SerfsTer?)
c.779del (p.Lys260SerfsTer?)
 ClinVar dbSNP
20g.63439677_63439678insACCA342536KCNQ2c.847_848insGT (p.Lys283SerfsTer?)
n.585_586insGT
c.328_329insGT (p.Lys110SerfsTer?)
c.505_506insGT (p.Lys169SerfsTer?)
n.973_974insGT
c.212_213insGT
c.350_351insGT (p.Val118Ter)
n.672_673insGT
c.721_722insGT (p.Lys241SerfsTer?)
c.778_779insGT (p.Lys260SerfsTer?)
 ClinVar dbSNP
20g.63439678T>ACA409652674KCNQ2c.847A>T (p.Lys283Ter)
n.585A>T
c.328A>T (p.Lys110Ter)
c.505A>T (p.Lys169Ter)
n.973A>T
c.212A>T
c.350A>T (p.Gln117Leu)
n.672A>T
c.721A>T (p.Lys241Ter)
c.778A>T (p.Lys260Ter)
20g.63439678T>CCA409652675KCNQ2c.847A>G (p.Lys283Glu)
n.585A>G
c.328A>G (p.Lys110Glu)
c.505A>G (p.Lys169Glu)
n.973A>G
c.212A>G
c.350A>G (p.Gln117Arg)
n.672A>G
c.721A>G (p.Lys241Glu)
c.778A>G (p.Lys260Glu)
 ClinVar dbSNP
20g.63439678T>GCA409652676KCNQ2c.847A>C (p.Lys283Gln)
n.585A>C
c.328A>C (p.Lys110Gln)
c.505A>C (p.Lys169Gln)
n.973A>C
c.212A>C
c.350A>C (p.Gln117Pro)
n.672A>C
c.721A>C (p.Lys241Gln)
c.778A>C (p.Lys260Gln)
20g.63439678T=CA2374791972KCNQ2c.847A= (p.Lys283=)
n.585A=
c.328A= (p.Lys110=)
c.505A= (p.Lys169=)
n.973A=
c.212A=
c.350A= (p.Gln117=)
n.672A=
c.721A= (p.Lys241=)
c.778A= (p.Lys260=)
20g.63439679G>ACA409652677KCNQ2c.846C>T (p.Asp282=)
n.584C>T
c.327C>T (p.Asp109=)
c.504C>T (p.Asp168=)
n.972C>T
c.211C>T
c.349C>T (p.Gln117Ter)
n.671C>T
c.720C>T (p.Asp240=)
c.777C>T (p.Asp259=)
 gnomAD v4
20g.63439679G>CCA409652678KCNQ2c.846C>G (p.Asp282Glu)
n.584C>G
c.327C>G (p.Asp109Glu)
c.504C>G (p.Asp168Glu)
n.972C>G
c.211C>G
c.349C>G (p.Gln117Glu)
n.671C>G
c.720C>G (p.Asp240Glu)
c.777C>G (p.Asp259Glu)
20g.63439679G>TCA409652679KCNQ2c.846C>A (p.Asp282Glu)
n.584C>A
c.327C>A (p.Asp109Glu)
c.504C>A (p.Asp168Glu)
n.972C>A
c.211C>A
c.349C>A (p.Gln117Lys)
n.671C>A
c.720C>A (p.Asp240Glu)
c.777C>A (p.Asp259Glu)
 ClinVar
20g.63439679_63439680delinsGTCA2374791973KCNQ2c.845_846delinsAC (p.Asp282=)
n.583_584delinsAC
c.326_327delinsAC (p.Asp109=)
c.503_504delinsAC (p.Asp168=)
n.971_972delinsAC
c.210_211delinsAC
c.348_349delinsAC (p.Gly116=)
n.670_671delinsAC
c.719_720delinsAC (p.Asp240=)
c.776_777delinsAC (p.Asp259=)
20g.63439680delCA891843763KCNQ2c.845del (p.Asp282AlafsTer?)
n.583del
c.326del (p.Asp109AlafsTer?)
c.503del (p.Asp168AlafsTer?)
n.971del
c.210del
c.348del (p.Gln117LysfsTer?)
n.670del
c.719del (p.Asp240AlafsTer?)
c.776del (p.Asp259AlafsTer?)
 ClinVar dbSNP
20g.63439680T>ACA409652680KCNQ2c.845A>T (p.Asp282Val)
n.583A>T
c.326A>T (p.Asp109Val)
c.503A>T (p.Asp168Val)
n.971A>T
c.210A>T
c.348A>T (p.Gly116=)
n.670A>T
c.719A>T (p.Asp240Val)
c.776A>T (p.Asp259Val)
 ClinVar dbSNP
20g.63439680T>CCA409652682KCNQ2c.845A>G (p.Asp282Gly)
n.583A>G
c.326A>G (p.Asp109Gly)
c.503A>G (p.Asp168Gly)
n.971A>G
c.210A>G
c.348A>G (p.Gly116=)
n.670A>G
c.719A>G (p.Asp240Gly)
c.776A>G (p.Asp259Gly)
20g.63439680T>GCA409652683KCNQ2c.845A>C (p.Asp282Ala)
n.583A>C
c.326A>C (p.Asp109Ala)
c.503A>C (p.Asp168Ala)
n.971A>C
c.210A>C
c.348A>C (p.Gly116=)
n.670A>C
c.719A>C (p.Asp240Ala)
c.776A>C (p.Asp259Ala)
20g.63439680T=CA2374791974KCNQ2c.845A= (p.Asp282=)
n.583A=
c.326A= (p.Asp109=)
c.503A= (p.Asp168=)
n.971A=
c.210A=
c.348A= (p.Gly116=)
n.670A=
c.719A= (p.Asp240=)
c.776A= (p.Asp259=)
20g.63439681C>ACA409652686KCNQ2c.844G>T (p.Asp282Tyr)
n.582G>T
c.325G>T (p.Asp109Tyr)
c.502G>T (p.Asp168Tyr)
n.970G>T
c.209G>T
c.347G>T (p.Gly116Val)
n.669G>T
c.718G>T (p.Asp240Tyr)
c.775G>T (p.Asp259Tyr)
20g.63439681C=CA2374791975KCNQ2c.844G= (p.Asp282=)
n.582G=
c.325G= (p.Asp109=)
c.502G= (p.Asp168=)
n.970G=
c.209G=
c.347G= (p.Gly116=)
n.669G=
c.718G= (p.Asp240=)
c.775G= (p.Asp259=)
20g.63439681C>GCA409652684KCNQ2c.844G>C (p.Asp282His)
n.582G>C
c.325G>C (p.Asp109His)
c.502G>C (p.Asp168His)
n.970G>C
c.209G>C
c.347G>C (p.Gly116Ala)
n.669G>C
c.718G>C (p.Asp240His)
c.775G>C (p.Asp259His)
 ClinVar dbSNP
20g.63439681C>TCA315404KCNQ2c.844G>A (p.Asp282Asn)
n.582G>A
c.325G>A (p.Asp109Asn)
c.502G>A (p.Asp168Asn)
n.970G>A
c.209G>A
c.347G>A (p.Gly116Glu)
n.669G>A
c.718G>A (p.Asp240Asn)
c.775G>A (p.Asp259Asn)
 ClinVar dbSNP
20g.63439682C>ACA409652687KCNQ2c.843G>T (p.Gly281=)
n.581G>T
c.324G>T (p.Gly108=)
c.501G>T (p.Gly167=)
n.969G>T
c.208G>T
c.346G>T (p.Gly116Ter)
n.668G>T
c.717G>T (p.Gly239=)
c.774G>T (p.Gly258=)
20g.63439682C>GCA409652689KCNQ2c.843G>C (p.Gly281=)
n.581G>C
c.324G>C (p.Gly108=)
c.501G>C (p.Gly167=)
n.969G>C
c.208G>C
c.346G>C (p.Gly116Arg)
n.668G>C
c.717G>C (p.Gly239=)
c.774G>C (p.Gly258=)
20g.63439682C>TCA409652691KCNQ2c.843G>A (p.Gly281=)
n.581G>A
c.324G>A (p.Gly108=)
c.501G>A (p.Gly167=)
n.969G>A
c.208G>A
c.346G>A (p.Gly116Arg)
n.668G>A
c.717G>A (p.Gly239=)
c.774G>A (p.Gly258=)
 gnomAD v4
20g.63439683C>ACA409652692KCNQ2c.842G>T (p.Gly281Val)
n.580G>T
c.323G>T (p.Gly108Val)
c.500G>T (p.Gly167Val)
n.968G>T
c.207G>T
c.345G>T (p.Arg115=)
n.667G>T
c.716G>T (p.Gly239Val)
c.773G>T (p.Gly258Val)
20g.63439683C=CA2374791976KCNQ2c.842G= (p.Gly281=)
n.580G=
c.323G= (p.Gly108=)
c.500G= (p.Gly167=)
n.968G=
c.207G=
c.345G= (p.Arg115=)
n.667G=
c.716G= (p.Gly239=)
c.773G= (p.Gly258=)
20g.63439683C>GCA409652694KCNQ2c.842G>C (p.Gly281Ala)
n.580G>C
c.323G>C (p.Gly108Ala)
c.500G>C (p.Gly167Ala)
n.968G>C
c.207G>C
c.345G>C (p.Arg115=)
n.667G>C
c.716G>C (p.Gly239Ala)
c.773G>C (p.Gly258Ala)
20g.63439683C>TCA16620971KCNQ2c.842G>A (p.Gly281Glu)
n.580G>A
c.323G>A (p.Gly108Glu)
c.500G>A (p.Gly167Glu)
n.968G>A
c.207G>A
c.345G>A (p.Arg115=)
n.667G>A
c.716G>A (p.Gly239Glu)
c.773G>A (p.Gly258Glu)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439684C>ACA209998KCNQ2c.841G>T (p.Gly281Trp)
n.579G>T
c.322G>T (p.Gly108Trp)
c.499G>T (p.Gly167Trp)
n.967G>T
c.206G>T
c.344G>T (p.Arg115Leu)
n.666G>T
c.715G>T (p.Gly239Trp)
c.772G>T (p.Gly258Trp)
 ClinVar dbSNP
20g.63439684C=CA2374791977KCNQ2c.841G= (p.Gly281=)
n.579G=
c.322G= (p.Gly108=)
c.499G= (p.Gly167=)
n.967G=
c.206G=
c.344G= (p.Arg115=)
n.666G=
c.715G= (p.Gly239=)
c.772G= (p.Gly258=)
20g.63439684C>GCA409652696KCNQ2c.841G>C (p.Gly281Arg)
n.579G>C
c.322G>C (p.Gly108Arg)
c.499G>C (p.Gly167Arg)
n.967G>C
c.206G>C
c.344G>C (p.Arg115Pro)
n.666G>C
c.715G>C (p.Gly239Arg)
c.772G>C (p.Gly258Arg)
 ClinVar dbSNP
20g.63439684C>TCA303047KCNQ2c.841G>A (p.Gly281Arg)
n.579G>A
c.322G>A (p.Gly108Arg)
c.499G>A (p.Gly167Arg)
n.967G>A
c.206G>A
c.344G>A (p.Arg115Gln)
n.666G>A
c.715G>A (p.Gly239Arg)
c.772G>A (p.Gly258Arg)
 ClinVar dbSNP
20g.63439685G>ACA9958710KCNQ2c.840C>T (p.Tyr280=)
n.578C>T
c.321C>T (p.Tyr107=)
c.498C>T (p.Tyr166=)
n.966C>T
c.205C>T
c.343C>T (p.Arg115Trp)
n.665C>T
c.714C>T (p.Tyr238=)
c.771C>T (p.Tyr257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439685G>CCA409652699KCNQ2c.840C>G (p.Tyr280Ter)
n.578C>G
c.321C>G (p.Tyr107Ter)
c.498C>G (p.Tyr166Ter)
n.966C>G
c.205C>G
c.343C>G (p.Arg115Gly)
n.665C>G
c.714C>G (p.Tyr238Ter)
c.771C>G (p.Tyr257Ter)
20g.63439685G=CA2374791978KCNQ2c.840C= (p.Tyr280=)
n.578C=
c.321C= (p.Tyr107=)
c.498C= (p.Tyr166=)
n.966C=
c.205C=
c.343C= (p.Arg115=)
n.665C=
c.714C= (p.Tyr238=)
c.771C= (p.Tyr257=)
20g.63439685G>TCA409652700KCNQ2c.840C>A (p.Tyr280Ter)
n.578C>A
c.321C>A (p.Tyr107Ter)
c.498C>A (p.Tyr166Ter)
n.966C>A
c.205C>A
c.343C>A (p.Arg115=)
n.665C>A
c.714C>A (p.Tyr238Ter)
c.771C>A (p.Tyr257Ter)
20g.63439686T>ACA409652701KCNQ2c.839A>T (p.Tyr280Phe)
n.577A>T
c.320A>T (p.Tyr107Phe)
c.497A>T (p.Tyr166Phe)
n.965A>T
c.204A>T
c.342A>T (p.Leu114=)
n.664A>T
c.713A>T (p.Tyr238Phe)
c.770A>T (p.Tyr257Phe)
20g.63439686T>CCA409652704KCNQ2c.839A>G (p.Tyr280Cys)
n.577A>G
c.320A>G (p.Tyr107Cys)
c.497A>G (p.Tyr166Cys)
n.965A>G
c.204A>G
c.342A>G (p.Leu114=)
n.664A>G
c.713A>G (p.Tyr238Cys)
c.770A>G (p.Tyr257Cys)
 ClinVar dbSNP
20g.63439686T>GCA409652703KCNQ2c.839A>C (p.Tyr280Ser)
n.577A>C
c.320A>C (p.Tyr107Ser)
c.497A>C (p.Tyr166Ser)
n.965A>C
c.204A>C
c.342A>C (p.Leu114=)
n.664A>C
c.713A>C (p.Tyr238Ser)
c.770A>C (p.Tyr257Ser)
20g.63439686T=CA2374791979KCNQ2c.839A= (p.Tyr280=)
n.577A=
c.320A= (p.Tyr107=)
c.497A= (p.Tyr166=)
n.965A=
c.204A=
c.342A= (p.Leu114=)
n.664A=
c.713A= (p.Tyr238=)
c.770A= (p.Tyr257=)
20g.63439687A=CA2374791980KCNQ2c.838T= (p.Tyr280=)
n.576T=
c.319T= (p.Tyr107=)
c.496T= (p.Tyr166=)
n.964T=
c.203T=
c.341T= (p.Leu114=)
n.663T=
c.712T= (p.Tyr238=)
c.769T= (p.Tyr257=)
20g.63439687A>CCA409652706KCNQ2c.838T>G (p.Tyr280Asp)
n.576T>G
c.319T>G (p.Tyr107Asp)
c.496T>G (p.Tyr166Asp)
n.964T>G
c.203T>G
c.341T>G (p.Leu114Arg)
n.663T>G
c.712T>G (p.Tyr238Asp)
c.769T>G (p.Tyr257Asp)
20g.63439687A>GCA409652707KCNQ2c.838T>C (p.Tyr280His)
n.576T>C
c.319T>C (p.Tyr107His)
c.496T>C (p.Tyr166His)
n.964T>C
c.203T>C
c.341T>C (p.Leu114Pro)
n.663T>C
c.712T>C (p.Tyr238His)
c.769T>C (p.Tyr257His)
 ClinVar dbSNP
20g.63439687A>TCA409652708KCNQ2c.838T>A (p.Tyr280Asn)
n.576T>A
c.319T>A (p.Tyr107Asn)
c.496T>A (p.Tyr166Asn)
n.964T>A
c.203T>A
c.341T>A (p.Leu114Gln)
n.663T>A
c.712T>A (p.Tyr238Asn)
c.769T>A (p.Tyr257Asn)
20g.63439688G>ACA511208859KCNQ2c.837C>T (p.Gly279=)
n.575C>T
c.318C>T (p.Gly106=)
c.495C>T (p.Gly165=)
n.963C>T
c.202C>T
c.340C>T (p.Leu114=)
n.662C>T
c.711C>T (p.Gly237=)
c.768C>T (p.Gly256=)
20g.63439688G>CCA409652709KCNQ2c.837C>G (p.Gly279=)
n.575C>G
c.318C>G (p.Gly106=)
c.495C>G (p.Gly165=)
n.963C>G
c.202C>G
c.340C>G (p.Leu114Val)
n.662C>G
c.711C>G (p.Gly237=)
c.768C>G (p.Gly256=)
 ClinVar
20g.63439688G>TCA409652710KCNQ2c.837C>A (p.Gly279=)
n.575C>A
c.318C>A (p.Gly106=)
c.495C>A (p.Gly165=)
n.963C>A
c.202C>A
c.340C>A (p.Leu114Ile)
n.662C>A
c.711C>A (p.Gly237=)
c.768C>A (p.Gly256=)
20g.63439689C>ACA409652715KCNQ2c.836G>T (p.Gly279Val)
n.574G>T
c.317G>T (p.Gly106Val)
c.494G>T (p.Gly165Val)
n.962G>T
c.201G>T
c.339G>T (p.Trp113Cys)
n.661G>T
c.710G>T (p.Gly237Val)
c.767G>T (p.Gly256Val)
 ClinVar
20g.63439689C>GCA409652714KCNQ2c.836G>C (p.Gly279Ala)
n.574G>C
c.317G>C (p.Gly106Ala)
c.494G>C (p.Gly165Ala)
n.962G>C
c.201G>C
c.339G>C (p.Trp113Cys)
n.661G>C
c.710G>C (p.Gly237Ala)
c.767G>C (p.Gly256Ala)
20g.63439689C>TCA409652712KCNQ2c.836G>A (p.Gly279Asp)
n.574G>A
c.317G>A (p.Gly106Asp)
c.494G>A (p.Gly165Asp)
n.962G>A
c.201G>A
c.339G>A (p.Trp113Ter)
n.661G>A
c.710G>A (p.Gly237Asp)
c.767G>A (p.Gly256Asp)
 ClinVar dbSNP
20g.63439690C>ACA10654814KCNQ2c.835G>T (p.Gly279Cys)
n.573G>T
c.316G>T (p.Gly106Cys)
c.493G>T (p.Gly165Cys)
n.961G>T
c.200G>T
c.338G>T (p.Trp113Leu)
n.660G>T
c.709G>T (p.Gly237Cys)
c.766G>T (p.Gly256Cys)
 ClinVar dbSNP
20g.63439690C=CA2374791981KCNQ2c.835G= (p.Gly279=)
n.573G=
c.316G= (p.Gly106=)
c.493G= (p.Gly165=)
n.961G=
c.200G=
c.338G= (p.Trp113=)
n.660G=
c.709G= (p.Gly237=)
c.766G= (p.Gly256=)
20g.63439690C>GCA409652717KCNQ2c.835G>C (p.Gly279Arg)
n.573G>C
c.316G>C (p.Gly106Arg)
c.493G>C (p.Gly165Arg)
n.961G>C
c.200G>C
c.338G>C (p.Trp113Ser)
n.660G>C
c.709G>C (p.Gly237Arg)
c.766G>C (p.Gly256Arg)
20g.63439690C>TCA409652718KCNQ2c.835G>A (p.Gly279Ser)
n.573G>A
c.316G>A (p.Gly106Ser)
c.493G>A (p.Gly165Ser)
n.961G>A
c.200G>A
c.338G>A (p.Trp113Ter)
n.660G>A
c.709G>A (p.Gly237Ser)
c.766G>A (p.Gly256Ser)
 ClinVar COSMIC
20g.63439691A=CA2374791982KCNQ2c.834T= (p.Ile278=)
n.572T=
c.315T= (p.Ile105=)
c.492T= (p.Ile164=)
n.960T=
c.199T=
c.337T= (p.Trp113=)
n.659T=
c.708T= (p.Ile236=)
c.765T= (p.Ile255=)
20g.63439691A>CCA409652720KCNQ2c.834T>G (p.Ile278Met)
n.572T>G
c.315T>G (p.Ile105Met)
c.492T>G (p.Ile164Met)
n.960T>G
c.199T>G
c.337T>G (p.Trp113Gly)
n.659T>G
c.708T>G (p.Ile236Met)
c.765T>G (p.Ile255Met)
 ClinVar dbSNP
20g.63439691A>GCA409652722KCNQ2c.834T>C (p.Ile278=)
n.572T>C
c.315T>C (p.Ile105=)
c.492T>C (p.Ile164=)
n.960T>C
c.199T>C
c.337T>C (p.Trp113Arg)
n.659T>C
c.708T>C (p.Ile236=)
c.765T>C (p.Ile255=)
 dbSNP gnomAD v2 gnomAD v4
20g.63439691A>TCA409652723KCNQ2c.834T>A (p.Ile278=)
n.572T>A
c.315T>A (p.Ile105=)
c.492T>A (p.Ile164=)
n.960T>A
c.199T>A
c.337T>A (p.Trp113Arg)
n.659T>A
c.708T>A (p.Ile236=)
c.765T>A (p.Ile255=)
20g.63439692A=CA2374791983KCNQ2c.833T= (p.Ile278=)
n.571T=
c.314T= (p.Ile105=)
c.491T= (p.Ile164=)
n.959T=
c.198T=
c.336T= (p.His112=)
n.658T=
c.707T= (p.Ile236=)
c.764T= (p.Ile255=)
20g.63439692A>CCA409652726KCNQ2c.833T>G (p.Ile278Ser)
n.571T>G
c.314T>G (p.Ile105Ser)
c.491T>G (p.Ile164Ser)
n.959T>G
c.198T>G
c.336T>G (p.His112Gln)
n.658T>G
c.707T>G (p.Ile236Ser)
c.764T>G (p.Ile255Ser)
20g.63439692A>GCA409652725KCNQ2c.833T>C (p.Ile278Thr)
n.571T>C
c.314T>C (p.Ile105Thr)
c.491T>C (p.Ile164Thr)
n.959T>C
c.198T>C
c.336T>C (p.His112=)
n.658T>C
c.707T>C (p.Ile236Thr)
c.764T>C (p.Ile255Thr)
 ClinVar dbSNP gnomAD v4
20g.63439692A>TCA16609051KCNQ2c.833T>A (p.Ile278Asn)
n.571T>A
c.314T>A (p.Ile105Asn)
c.491T>A (p.Ile164Asn)
n.959T>A
c.198T>A
c.336T>A (p.His112Gln)
n.658T>A
c.707T>A (p.Ile236Asn)
c.764T>A (p.Ile255Asn)
 ClinVar dbSNP
20g.63439693T>ACA409652727KCNQ2c.832A>T (p.Ile278Phe)
n.570A>T
c.313A>T (p.Ile105Phe)
c.490A>T (p.Ile164Phe)
n.958A>T
c.197A>T
c.335A>T (p.His112Leu)
n.657A>T
c.706A>T (p.Ile236Phe)
c.763A>T (p.Ile255Phe)
 ClinVar dbSNP
20g.63439693T>CCA9958711KCNQ2c.832A>G (p.Ile278Val)
n.570A>G
c.313A>G (p.Ile105Val)
c.490A>G (p.Ile164Val)
n.958A>G
c.197A>G
c.335A>G (p.His112Arg)
n.657A>G
c.706A>G (p.Ile236Val)
c.763A>G (p.Ile255Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439693T>GCA409652728KCNQ2c.832A>C (p.Ile278Leu)
n.570A>C
c.313A>C (p.Ile105Leu)
c.490A>C (p.Ile164Leu)
n.958A>C
c.197A>C
c.335A>C (p.His112Pro)
n.657A>C
c.706A>C (p.Ile236Leu)
c.763A>C (p.Ile255Leu)
20g.63439693T=CA2374791984KCNQ2c.832A= (p.Ile278=)
n.570A=
c.313A= (p.Ile105=)
c.490A= (p.Ile164=)
n.958A=
c.197A=
c.335A= (p.His112=)
n.657A=
c.706A= (p.Ile236=)
c.763A= (p.Ile255=)
20g.63439694G>ACA409652730KCNQ2c.831C>T (p.Thr277=)
n.569C>T
c.312C>T (p.Thr104=)
c.489C>T (p.Thr163=)
n.957C>T
c.196C>T
c.334C>T (p.His112Tyr)
n.656C>T
c.705C>T (p.Thr235=)
c.762C>T (p.Thr254=)
 gnomAD v4
20g.63439694G>CCA409652732KCNQ2c.831C>G (p.Thr277=)
n.569C>G
c.312C>G (p.Thr104=)
c.489C>G (p.Thr163=)
n.957C>G
c.196C>G
c.334C>G (p.His112Asp)
n.656C>G
c.705C>G (p.Thr235=)
c.762C>G (p.Thr254=)
20g.63439694G>TCA409652733KCNQ2c.831C>A (p.Thr277=)
n.569C>A
c.312C>A (p.Thr104=)
c.489C>A (p.Thr163=)
n.957C>A
c.196C>A
c.334C>A (p.His112Asn)
n.656C>A
c.705C>A (p.Thr235=)
c.762C>A (p.Thr254=)
20g.63439695G>ACA409652734KCNQ2c.830C>T (p.Thr277Ile)
n.568C>T
c.311C>T (p.Thr104Ile)
c.488C>T (p.Thr163Ile)
n.956C>T
c.195C>T
c.333C>T (p.His111=)
n.655C>T
c.704C>T (p.Thr235Ile)
c.761C>T (p.Thr254Ile)
 ClinVar
20g.63439695G>CCA409652735KCNQ2c.830C>G (p.Thr277Ser)
n.568C>G
c.311C>G (p.Thr104Ser)
c.488C>G (p.Thr163Ser)
n.956C>G
c.195C>G
c.333C>G (p.His111Gln)
n.655C>G
c.704C>G (p.Thr235Ser)
c.761C>G (p.Thr254Ser)
 ClinVar
20g.63439695G=CA2374791985KCNQ2c.830C= (p.Thr277=)
n.568C=
c.311C= (p.Thr104=)
c.488C= (p.Thr163=)
n.956C=
c.195C=
c.333C= (p.His111=)
n.655C=
c.704C= (p.Thr235=)
c.761C= (p.Thr254=)
20g.63439695G>TCA409652736KCNQ2c.830C>A (p.Thr277Asn)
n.568C>A
c.311C>A (p.Thr104Asn)
c.488C>A (p.Thr163Asn)
n.956C>A
c.195C>A
c.333C>A (p.His111Gln)
n.655C>A
c.704C>A (p.Thr235Asn)
c.761C>A (p.Thr254Asn)
 ClinVar dbSNP
20g.63439696T>ACA409652738KCNQ2c.829A>T (p.Thr277Ser)
n.567A>T
c.310A>T (p.Thr104Ser)
c.487A>T (p.Thr163Ser)
n.955A>T
c.194A>T
c.332A>T (p.His111Leu)
n.654A>T
c.703A>T (p.Thr235Ser)
c.760A>T (p.Thr254Ser)
 ClinVar dbSNP
20g.63439696T>CCA409652740KCNQ2c.829A>G (p.Thr277Ala)
n.567A>G
c.310A>G (p.Thr104Ala)
c.487A>G (p.Thr163Ala)
n.955A>G
c.194A>G
c.332A>G (p.His111Arg)
n.654A>G
c.703A>G (p.Thr235Ala)
c.760A>G (p.Thr254Ala)
 ClinVar
20g.63439696T>GCA409652741KCNQ2c.829A>C (p.Thr277Pro)
n.567A>C
c.310A>C (p.Thr104Pro)
c.487A>C (p.Thr163Pro)
n.955A>C
c.194A>C
c.332A>C (p.His111Pro)
n.654A>C
c.703A>C (p.Thr235Pro)
c.760A>C (p.Thr254Pro)
 ClinVar dbSNP
20g.63439696T=CA2374791986KCNQ2c.829A= (p.Thr277=)
n.567A=
c.310A= (p.Thr104=)
c.487A= (p.Thr163=)
n.955A=
c.194A=
c.332A= (p.His111=)
n.654A=
c.703A= (p.Thr235=)
c.760A= (p.Thr254=)
20g.63439697G>ACA409652743KCNQ2c.828C>T (p.Thr276=)
n.566C>T
c.309C>T (p.Thr103=)
c.486C>T (p.Thr162=)
n.954C>T
c.193C>T
c.331C>T (p.His111Tyr)
n.653C>T
c.702C>T (p.Thr234=)
c.759C>T (p.Thr253=)
 gnomAD v4
20g.63439697G>CCA409652745KCNQ2c.828C>G (p.Thr276=)
n.566C>G
c.309C>G (p.Thr103=)
c.486C>G (p.Thr162=)
n.954C>G
c.193C>G
c.331C>G (p.His111Asp)
n.653C>G
c.702C>G (p.Thr234=)
c.759C>G (p.Thr253=)
20g.63439697G>TCA409652744KCNQ2c.828C>A (p.Thr276=)
n.566C>A
c.309C>A (p.Thr103=)
c.486C>A (p.Thr162=)
n.954C>A
c.193C>A
c.331C>A (p.His111Asn)
n.653C>A
c.702C>A (p.Thr234=)
c.759C>A (p.Thr253=)
20g.63439698G>ACA10654815KCNQ2c.827C>T (p.Thr276Ile)
n.565C>T
c.308C>T (p.Thr103Ile)
c.485C>T (p.Thr162Ile)
n.953C>T
c.192C>T
c.330C>T (p.Asp110=)
n.652C>T
c.701C>T (p.Thr234Ile)
c.758C>T (p.Thr253Ile)
 ClinVar dbSNP
20g.63439698G>CCA409652746KCNQ2c.827C>G (p.Thr276Ser)
n.565C>G
c.308C>G (p.Thr103Ser)
c.485C>G (p.Thr162Ser)
n.953C>G
c.192C>G
c.330C>G (p.Asp110Glu)
n.652C>G
c.701C>G (p.Thr234Ser)
c.758C>G (p.Thr253Ser)
20g.63439698G=CA2374791987KCNQ2c.827C= (p.Thr276=)
n.565C=
c.308C= (p.Thr103=)
c.485C= (p.Thr162=)
n.953C=
c.192C=
c.330C= (p.Asp110=)
n.652C=
c.701C= (p.Thr234=)
c.758C= (p.Thr253=)
20g.63439698G>TCA409652747KCNQ2c.827C>A (p.Thr276Asn)
n.565C>A
c.308C>A (p.Thr103Asn)
c.485C>A (p.Thr162Asn)
n.953C>A
c.192C>A
c.330C>A (p.Asp110Glu)
n.652C>A
c.701C>A (p.Thr234Asn)
c.758C>A (p.Thr253Asn)
 ClinVar dbSNP
20g.63439699T>ACA409652749KCNQ2c.826A>T (p.Thr276Ser)
n.564A>T
c.307A>T (p.Thr103Ser)
c.484A>T (p.Thr162Ser)
n.952A>T
c.191A>T
c.329A>T (p.Asp110Val)
n.651A>T
c.700A>T (p.Thr234Ser)
c.757A>T (p.Thr253Ser)
20g.63439699T>CCA409652750KCNQ2c.826A>G (p.Thr276Ala)
n.564A>G
c.307A>G (p.Thr103Ala)
c.484A>G (p.Thr162Ala)
n.952A>G
c.191A>G
c.329A>G (p.Asp110Gly)
n.651A>G
c.700A>G (p.Thr234Ala)
c.757A>G (p.Thr253Ala)
20g.63439699T>GCA409652752KCNQ2c.826A>C (p.Thr276Pro)
n.564A>C
c.307A>C (p.Thr103Pro)
c.484A>C (p.Thr162Pro)
n.952A>C
c.191A>C
c.329A>C (p.Asp110Ala)
n.651A>C
c.700A>C (p.Thr234Pro)
c.757A>C (p.Thr253Pro)
 ClinVar
20g.63439700C>ACA409652753KCNQ2c.825G>T (p.Leu275=)
n.563G>T
c.306G>T (p.Leu102=)
c.483G>T (p.Leu161=)
n.951G>T
c.190G>T
c.328G>T (p.Asp110Tyr)
n.650G>T
c.699G>T (p.Leu233=)
c.756G>T (p.Leu252=)
20g.63439700C=CA2374791988KCNQ2c.825G= (p.Leu275=)
n.563G=
c.306G= (p.Leu102=)
c.483G= (p.Leu161=)
n.951G=
c.190G=
c.328G= (p.Asp110=)
n.650G=
c.699G= (p.Leu233=)
c.756G= (p.Leu252=)
20g.63439700C>GCA409652754KCNQ2c.825G>C (p.Leu275=)
n.563G>C
c.306G>C (p.Leu102=)
c.483G>C (p.Leu161=)
n.951G>C
c.190G>C
c.328G>C (p.Asp110His)
n.650G>C
c.699G>C (p.Leu233=)
c.756G>C (p.Leu252=)
20g.63439700C>TCA409652756KCNQ2c.825G>A (p.Leu275=)
n.563G>A
c.306G>A (p.Leu102=)
c.483G>A (p.Leu161=)
n.951G>A
c.190G>A
c.328G>A (p.Asp110Asn)
n.650G>A
c.699G>A (p.Leu233=)
c.756G>A (p.Leu252=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63439701A>CCA409652758KCNQ2c.824T>G (p.Leu275Arg)
n.562T>G
c.305T>G (p.Leu102Arg)
c.482T>G (p.Leu161Arg)
n.950T>G
c.189T>G
c.327T>G (p.Ala109=)
n.649T>G
c.698T>G (p.Leu233Arg)
c.755T>G (p.Leu252Arg)
20g.63439701A>GCA409652760KCNQ2c.824T>C (p.Leu275Pro)
n.562T>C
c.305T>C (p.Leu102Pro)
c.482T>C (p.Leu161Pro)
n.950T>C
c.189T>C
c.327T>C (p.Ala109=)
n.649T>C
c.698T>C (p.Leu233Pro)
c.755T>C (p.Leu252Pro)
20g.63439701A>TCA409652761KCNQ2c.824T>A (p.Leu275Gln)
n.562T>A
c.305T>A (p.Leu102Gln)
c.482T>A (p.Leu161Gln)
n.950T>A
c.189T>A
c.327T>A (p.Ala109=)
n.649T>A
c.698T>A (p.Leu233Gln)
c.755T>A (p.Leu252Gln)
20g.63439702G>ACA409652766KCNQ2c.823C>T (p.Leu275=)
n.561C>T
c.304C>T (p.Leu102=)
c.481C>T (p.Leu161=)
n.949C>T
c.188C>T
c.326C>T (p.Ala109Val)
n.648C>T
c.697C>T (p.Leu233=)
c.754C>T (p.Leu252=)
20g.63439702G>CCA409652763KCNQ2c.823C>G (p.Leu275Val)
n.561C>G
c.304C>G (p.Leu102Val)
c.481C>G (p.Leu161Val)
n.949C>G
c.188C>G
c.326C>G (p.Ala109Gly)
n.648C>G
c.697C>G (p.Leu233Val)
c.754C>G (p.Leu252Val)
 ClinVar dbSNP
20g.63439702G>TCA409652764KCNQ2c.823C>A (p.Leu275Met)
n.561C>A
c.304C>A (p.Leu102Met)
c.481C>A (p.Leu161Met)
n.949C>A
c.188C>A
c.326C>A (p.Ala109Asp)
n.648C>A
c.697C>A (p.Leu233Met)
c.754C>A (p.Leu252Met)
20g.63439703C>ACA317456440KCNQ2c.822G>T (p.Thr274=)
n.560G>T
c.303G>T (p.Thr101=)
c.480G>T (p.Thr160=)
n.948G>T
c.187G>T
c.325G>T (p.Ala109Ser)
n.647G>T
c.696G>T (p.Thr232=)
c.753G>T (p.Thr251=)
 ClinVar dbSNP
20g.63439703C=CA2374791989KCNQ2c.822G= (p.Thr274=)
n.560G=
c.303G= (p.Thr101=)
c.480G= (p.Thr160=)
n.948G=
c.187G=
c.325G= (p.Ala109=)
n.647G=
c.696G= (p.Thr232=)
c.753G= (p.Thr251=)
20g.63439703C>GCA409652767KCNQ2c.822G>C (p.Thr274=)
n.560G>C
c.303G>C (p.Thr101=)
c.480G>C (p.Thr160=)
n.948G>C
c.187G>C
c.325G>C (p.Ala109Pro)
n.647G>C
c.696G>C (p.Thr232=)
c.753G>C (p.Thr251=)
20g.63439703C>TCA9958712KCNQ2c.822G>A (p.Thr274=)
n.560G>A
c.303G>A (p.Thr101=)
c.480G>A (p.Thr160=)
n.948G>A
c.187G>A
c.325G>A (p.Ala109Thr)
n.647G>A
c.696G>A (p.Thr232=)
c.753G>A (p.Thr251=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
20g.63439704G>ACA278569KCNQ2c.821C>T (p.Thr274Met)
n.559C>T
c.302C>T (p.Thr101Met)
c.479C>T (p.Thr160Met)
n.947C>T
c.186C>T
c.324C>T (p.His108=)
n.646C>T
c.695C>T (p.Thr232Met)
c.752C>T (p.Thr251Met)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
20g.63439704G>CCA409652769KCNQ2c.821C>G (p.Thr274Arg)
n.559C>G
c.302C>G (p.Thr101Arg)
c.479C>G (p.Thr160Arg)
n.947C>G
c.186C>G
c.324C>G (p.His108Gln)
n.646C>G
c.695C>G (p.Thr232Arg)
c.752C>G (p.Thr251Arg)
20g.63439704G=CA2374791990KCNQ2c.821C= (p.Thr274=)
n.559C=
c.302C= (p.Thr101=)
c.479C= (p.Thr160=)
n.947C=
c.186C=
c.324C= (p.His108=)
n.646C=
c.695C= (p.Thr232=)
c.752C= (p.Thr251=)
20g.63439704G>TCA409652770KCNQ2c.821C>A (p.Thr274Lys)
n.559C>A
c.302C>A (p.Thr101Lys)
c.479C>A (p.Thr160Lys)
n.947C>A
c.186C>A
c.324C>A (p.His108Gln)
n.646C>A
c.695C>A (p.Thr232Lys)
c.752C>A (p.Thr251Lys)
20g.63439705T>ACA409652772KCNQ2c.820A>T (p.Thr274Ser)
n.558A>T
c.301A>T (p.Thr101Ser)
c.478A>T (p.Thr160Ser)
n.946A>T
c.185A>T
c.323A>T (p.His108Leu)
n.645A>T
c.694A>T (p.Thr232Ser)
c.751A>T (p.Thr251Ser)
20g.63439705T>CCA409652773KCNQ2c.820A>G (p.Thr274Ala)
n.558A>G
c.301A>G (p.Thr101Ala)
c.478A>G (p.Thr160Ala)
n.946A>G
c.185A>G
c.323A>G (p.His108Arg)
n.645A>G
c.694A>G (p.Thr232Ala)
c.751A>G (p.Thr251Ala)
20g.63439705T>GCA409652774KCNQ2c.820A>C (p.Thr274Pro)
n.558A>C
c.301A>C (p.Thr101Pro)
c.478A>C (p.Thr160Pro)
n.946A>C
c.185A>C
c.323A>C (p.His108Pro)
n.645A>C
c.694A>C (p.Thr232Pro)
c.751A>C (p.Thr251Pro)
20g.63439706G>ACA9958713KCNQ2c.819C>T (p.Ile273=)
n.557C>T
c.300C>T (p.Ile100=)
c.477C>T (p.Ile159=)
n.945C>T
c.184C>T
c.322C>T (p.His108Tyr)
n.644C>T
c.693C>T (p.Ile231=)
c.750C>T (p.Ile250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439706G>CCA16620972KCNQ2c.819C>G (p.Ile273Met)
n.557C>G
c.300C>G (p.Ile100Met)
c.477C>G (p.Ile159Met)
n.945C>G
c.184C>G
c.322C>G (p.His108Asp)
n.644C>G
c.693C>G (p.Ile231Met)
c.750C>G (p.Ile250Met)
 ClinVar dbSNP
20g.63439706G=CA2374791991KCNQ2c.819C= (p.Ile273=)
n.557C=
c.300C= (p.Ile100=)
c.477C= (p.Ile159=)
n.945C=
c.184C=
c.322C= (p.His108=)
n.644C=
c.693C= (p.Ile231=)
c.750C= (p.Ile250=)
20g.63439706G>TCA409652776KCNQ2c.819C>A (p.Ile273=)
n.557C>A
c.300C>A (p.Ile100=)
c.477C>A (p.Ile159=)
n.945C>A
c.184C>A
c.322C>A (p.His108Asn)
n.644C>A
c.693C>A (p.Ile231=)
c.750C>A (p.Ile250=)
20g.63439707A=CA2374791992KCNQ2c.818T= (p.Ile273=)
n.556T=
c.299T= (p.Ile100=)
c.476T= (p.Ile159=)
n.944T=
c.183T=
c.321T= (p.Asp107=)
n.643T=
c.692T= (p.Ile231=)
c.749T= (p.Ile250=)
20g.63439707A>CCA409652777KCNQ2c.818T>G (p.Ile273Ser)
n.556T>G
c.299T>G (p.Ile100Ser)
c.476T>G (p.Ile159Ser)
n.944T>G
c.183T>G
c.321T>G (p.Asp107Glu)
n.643T>G
c.692T>G (p.Ile231Ser)
c.749T>G (p.Ile250Ser)
20g.63439707A>GCA409652778KCNQ2c.818T>C (p.Ile273Thr)
n.556T>C
c.299T>C (p.Ile100Thr)
c.476T>C (p.Ile159Thr)
n.944T>C
c.183T>C
c.321T>C (p.Asp107=)
n.643T>C
c.692T>C (p.Ile231Thr)
c.749T>C (p.Ile250Thr)
20g.63439707A>TCA315402KCNQ2c.818T>A (p.Ile273Asn)
n.556T>A
c.299T>A (p.Ile100Asn)
c.476T>A (p.Ile159Asn)
n.944T>A
c.183T>A
c.321T>A (p.Asp107Glu)
n.643T>A
c.692T>A (p.Ile231Asn)
c.749T>A (p.Ile250Asn)
 ClinVar dbSNP
20g.63439708T>ACA409652781KCNQ2c.817A>T (p.Ile273Phe)
n.555A>T
c.298A>T (p.Ile100Phe)
c.475A>T (p.Ile159Phe)
n.943A>T
c.182A>T
c.320A>T (p.Asp107Val)
n.642A>T
c.691A>T (p.Ile231Phe)
c.748A>T (p.Ile250Phe)
20g.63439708T>CCA409652780KCNQ2c.817A>G (p.Ile273Val)
n.555A>G
c.298A>G (p.Ile100Val)
c.475A>G (p.Ile159Val)
n.943A>G
c.182A>G
c.320A>G (p.Asp107Gly)
n.642A>G
c.691A>G (p.Ile231Val)
c.748A>G (p.Ile250Val)
20g.63439708T>GCA409652782KCNQ2c.817A>C (p.Ile273Leu)
n.555A>C
c.298A>C (p.Ile100Leu)
c.475A>C (p.Ile159Leu)
n.943A>C
c.182A>C
c.320A>C (p.Asp107Ala)
n.642A>C
c.691A>C (p.Ile231Leu)
c.748A>C (p.Ile250Leu)
20g.63439708_63439709delinsATCA2573054901KCNQ2c.817-1_817delinsAT
n.555-1_555delinsAT
c.298-1_298delinsAT
c.475-1_475delinsAT
n.943-1_943delinsAT
c.182-1_182delinsAT
c.319_320delinsAT (p.Asp107Ile)
n.642-1_642delinsAT
c.691-1_691delinsAT
c.748-1_748delinsAT
 ClinVar dbSNP
20g.63439709C>ACA409652784KCNQ2c.817-1G>T (n.817-1G>T)
n.555-1G>T
c.298-1G>T (n.298-1G>T)
c.475-1G>T (n.475-1G>T)
n.943-1G>T
c.182-1G>T
c.319G>T (p.Asp107Tyr)
n.642-1G>T
c.691-1G>T (n.691-1G>T)
c.748-1G>T (n.748-1G>T)
20g.63439709C>GCA409652786KCNQ2c.817-1G>C (n.817-1G>C)
n.555-1G>C
c.298-1G>C (n.298-1G>C)
c.475-1G>C (n.475-1G>C)
n.943-1G>C
c.182-1G>C
c.319G>C (p.Asp107His)
n.642-1G>C
c.691-1G>C (n.691-1G>C)
c.748-1G>C (n.748-1G>C)
20g.63439709C>TCA409652785KCNQ2c.817-1G>A (n.817-1G>A)
n.555-1G>A
c.298-1G>A (n.298-1G>A)
c.475-1G>A (n.475-1G>A)
n.943-1G>A
c.182-1G>A
c.319G>A (p.Asp107Asn)
n.642-1G>A
c.691-1G>A (n.691-1G>A)
c.748-1G>A (n.748-1G>A)
 ClinVar dbSNP
20g.63439710T>ACA409652787KCNQ2c.817-2A>T (n.817-2A>T)
n.555-2A>T
c.298-2A>T (n.298-2A>T)
c.475-2A>T (n.475-2A>T)
n.943-2A>T
c.182-2A>T
c.318A>T (p.Thr106=)
n.642-2A>T
c.691-2A>T (n.691-2A>T)
c.748-2A>T (n.748-2A>T)
20g.63439710T>CCA409652788KCNQ2c.817-2A>G (n.817-2A>G)
n.555-2A>G
c.298-2A>G (n.298-2A>G)
c.475-2A>G (n.475-2A>G)
n.943-2A>G
c.182-2A>G
c.318A>G (p.Thr106=)
n.642-2A>G
c.691-2A>G (n.691-2A>G)
c.748-2A>G (n.748-2A>G)
 ClinVar
20g.63439710T>GCA409652790KCNQ2c.817-2A>C (n.817-2A>C)
n.555-2A>C
c.298-2A>C (n.298-2A>C)
c.475-2A>C (n.475-2A>C)
n.943-2A>C
c.182-2A>C
c.318A>C (p.Thr106=)
n.642-2A>C
c.691-2A>C (n.691-2A>C)
c.748-2A>C (n.748-2A>C)
20g.63439711G>ACA409652791KCNQ2c.817-3C>T (n.817-3C>T)
n.555-3C>T
c.298-3C>T (n.298-3C>T)
c.475-3C>T (n.475-3C>T)
n.943-3C>T
c.182-3C>T
c.317C>T (p.Thr106Ile)
n.642-3C>T
c.691-3C>T (n.691-3C>T)
c.748-3C>T (n.748-3C>T)
 ClinVar dbSNP gnomAD v4
20g.63439711G>CCA409652793KCNQ2c.817-3C>G (n.817-3C>G)
n.555-3C>G
c.298-3C>G (n.298-3C>G)
c.475-3C>G (n.475-3C>G)
n.943-3C>G
c.182-3C>G
c.317C>G (p.Thr106Arg)
n.642-3C>G
c.691-3C>G (n.691-3C>G)
c.748-3C>G (n.748-3C>G)
20g.63439711G=CA2374791993KCNQ2c.817-3C= (n.817-3C=)
n.555-3C=
c.298-3C= (n.298-3C=)
c.475-3C= (n.475-3C=)
n.943-3C=
c.182-3C=
c.317C= (p.Thr106=)
n.642-3C=
c.691-3C= (n.691-3C=)
c.748-3C= (n.748-3C=)
20g.63439711G>TCA409652794KCNQ2c.817-3C>A (n.817-3C>A)
n.555-3C>A
c.298-3C>A (n.298-3C>A)
c.475-3C>A (n.475-3C>A)
n.943-3C>A
c.182-3C>A
c.317C>A (p.Thr106Lys)
n.642-3C>A
c.691-3C>A (n.691-3C>A)
c.748-3C>A (n.748-3C>A)
20g.63439712T>ACA409652795KCNQ2c.817-4A>T (n.817-4A>T)
n.555-4A>T
c.298-4A>T (n.298-4A>T)
c.475-4A>T (n.475-4A>T)
n.943-4A>T
c.182-4A>T
c.316A>T (p.Thr106Ser)
n.642-4A>T
c.691-4A>T (n.691-4A>T)
c.748-4A>T (n.748-4A>T)
20g.63439712T>CCA317456455KCNQ2c.817-4A>G (n.817-4A>G)
n.555-4A>G
c.298-4A>G (n.298-4A>G)
c.475-4A>G (n.475-4A>G)
n.943-4A>G
c.182-4A>G
c.316A>G (p.Thr106Ala)
n.642-4A>G
c.691-4A>G (n.691-4A>G)
c.748-4A>G (n.748-4A>G)
 dbSNP gnomAD v4
20g.63439712T>GCA409652798KCNQ2c.817-4A>C (n.817-4A>C)
n.555-4A>C
c.298-4A>C (n.298-4A>C)
c.475-4A>C (n.475-4A>C)
n.943-4A>C
c.182-4A>C
c.316A>C (p.Thr106Pro)
n.642-4A>C
c.691-4A>C (n.691-4A>C)
c.748-4A>C (n.748-4A>C)
20g.63439712T=CA2374791994KCNQ2c.817-4A= (n.817-4A=)
n.555-4A=
c.298-4A= (n.298-4A=)
c.475-4A= (n.475-4A=)
n.943-4A=
c.182-4A=
c.316A= (p.Thr106=)
n.642-4A=
c.691-4A= (n.691-4A=)
c.748-4A= (n.748-4A=)
20g.63439713G>ACA9958714KCNQ2c.817-5C>T (n.817-5C>T)
n.555-5C>T
c.298-5C>T (n.298-5C>T)
c.475-5C>T (n.475-5C>T)
n.943-5C>T
c.182-5C>T
c.315C>T (p.Pro105=)
n.642-5C>T
c.691-5C>T (n.691-5C>T)
c.748-5C>T (n.748-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439713G=CA2374791995KCNQ2c.817-5C= (n.817-5C=)
n.555-5C=
c.298-5C= (n.298-5C=)
c.475-5C= (n.475-5C=)
n.943-5C=
c.182-5C=
c.315C= (p.Pro105=)
n.642-5C=
c.691-5C= (n.691-5C=)
c.748-5C= (n.748-5C=)
20g.63439713G>TCA2653800779KCNQ2c.817-5C>A (n.817-5C>A)
n.555-5C>A
c.298-5C>A (n.298-5C>A)
c.475-5C>A (n.475-5C>A)
n.943-5C>A
c.182-5C>A
c.315C>A (p.Pro105=)
n.642-5C>A
c.691-5C>A (n.691-5C>A)
c.748-5C>A (n.748-5C>A)
 gnomAD v4
20g.63439714G>ACA409652802KCNQ2c.817-6C>T (n.817-6C>T)
n.555-6C>T
c.298-6C>T (n.298-6C>T)
c.475-6C>T (n.475-6C>T)
n.943-6C>T
c.182-6C>T
c.314C>T (p.Pro105Leu)
n.642-6C>T
c.691-6C>T (n.691-6C>T)
c.748-6C>T (n.748-6C>T)
20g.63439714G>CCA9958715KCNQ2c.817-6C>G (n.817-6C>G)
n.555-6C>G
c.298-6C>G (n.298-6C>G)
c.475-6C>G (n.475-6C>G)
n.943-6C>G
c.182-6C>G
c.314C>G (p.Pro105Arg)
n.642-6C>G
c.691-6C>G (n.691-6C>G)
c.748-6C>G (n.748-6C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439714G=CA2374791996KCNQ2c.817-6C= (n.817-6C=)
n.555-6C=
c.298-6C= (n.298-6C=)
c.475-6C= (n.475-6C=)
n.943-6C=
c.182-6C=
c.314C= (p.Pro105=)
n.642-6C=
c.691-6C= (n.691-6C=)
c.748-6C= (n.748-6C=)
20g.63439714G>TCA409652800KCNQ2c.817-6C>A (n.817-6C>A)
n.555-6C>A
c.298-6C>A (n.298-6C>A)
c.475-6C>A (n.475-6C>A)
n.943-6C>A
c.182-6C>A
c.314C>A (p.Pro105His)
n.642-6C>A
c.691-6C>A (n.691-6C>A)
c.748-6C>A (n.748-6C>A)
 gnomAD v4
20g.63439715G>ACA409652804KCNQ2c.817-7C>T (n.817-7C>T)
n.555-7C>T
c.298-7C>T (n.298-7C>T)
c.475-7C>T (n.475-7C>T)
n.943-7C>T
c.182-7C>T
c.313C>T (p.Pro105Ser)
n.642-7C>T
c.691-7C>T (n.691-7C>T)
c.748-7C>T (n.748-7C>T)
20g.63439715G>CCA409652805KCNQ2c.817-7C>G (n.817-7C>G)
n.555-7C>G
c.298-7C>G (n.298-7C>G)
c.475-7C>G (n.475-7C>G)
n.943-7C>G
c.182-7C>G
c.313C>G (p.Pro105Ala)
n.642-7C>G
c.691-7C>G (n.691-7C>G)
c.748-7C>G (n.748-7C>G)
20g.63439715G>TCA409652806KCNQ2c.817-7C>A (n.817-7C>A)
n.555-7C>A
c.298-7C>A (n.298-7C>A)
c.475-7C>A (n.475-7C>A)
n.943-7C>A
c.182-7C>A
c.313C>A (p.Pro105Thr)
n.642-7C>A
c.691-7C>A (n.691-7C>A)
c.748-7C>A (n.748-7C>A)
 gnomAD v4
20g.63439716A=CA2374791997KCNQ2c.817-8T= (n.817-8T=)
n.555-8T=
c.298-8T= (n.298-8T=)
c.475-8T= (n.475-8T=)
n.943-8T=
c.182-8T=
c.312T= (p.Gly104=)
n.642-8T=
c.691-8T= (n.691-8T=)
c.748-8T= (n.748-8T=)
20g.63439716A>CCA9958716KCNQ2c.817-8T>G (n.817-8T>G)
n.555-8T>G
c.298-8T>G (n.298-8T>G)
c.475-8T>G (n.475-8T>G)
n.943-8T>G
c.182-8T>G
c.312T>G (p.Gly104=)
n.642-8T>G
c.691-8T>G (n.691-8T>G)
c.748-8T>G (n.748-8T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439716A>TCA2653800790KCNQ2c.817-8T>A (n.817-8T>A)
n.555-8T>A
c.298-8T>A (n.298-8T>A)
c.475-8T>A (n.475-8T>A)
n.943-8T>A
c.182-8T>A
c.312T>A (p.Gly104=)
n.642-8T>A
c.691-8T>A (n.691-8T>A)
c.748-8T>A (n.748-8T>A)
 gnomAD v4
20g.63439717C>ACA409652807KCNQ2c.817-9G>T (n.817-9G>T)
n.555-9G>T
c.298-9G>T (n.298-9G>T)
c.475-9G>T (n.475-9G>T)
n.943-9G>T
c.182-9G>T
c.311G>T (p.Gly104Val)
n.642-9G>T
c.691-9G>T (n.691-9G>T)
c.748-9G>T (n.748-9G>T)
20g.63439717C=CA2374791998KCNQ2c.817-9G= (n.817-9G=)
n.555-9G=
c.298-9G= (n.298-9G=)
c.475-9G= (n.475-9G=)
n.943-9G=
c.182-9G=
c.311G= (p.Gly104=)
n.642-9G=
c.691-9G= (n.691-9G=)
c.748-9G= (n.748-9G=)
20g.63439717C>GCA409652809KCNQ2c.817-9G>C (n.817-9G>C)
n.555-9G>C
c.298-9G>C (n.298-9G>C)
c.475-9G>C (n.475-9G>C)
n.943-9G>C
c.182-9G>C
c.311G>C (p.Gly104Ala)
n.642-9G>C
c.691-9G>C (n.691-9G>C)
c.748-9G>C (n.748-9G>C)
 gnomAD v4
20g.63439717C>TCA9958717KCNQ2c.817-9G>A (n.817-9G>A)
n.555-9G>A
c.298-9G>A (n.298-9G>A)
c.475-9G>A (n.475-9G>A)
n.943-9G>A
c.182-9G>A
c.311G>A (p.Gly104Asp)
n.642-9G>A
c.691-9G>A (n.691-9G>A)
c.748-9G>A (n.748-9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439718C>ACA409652811KCNQ2c.817-10G>T (n.817-10G>T)
n.555-10G>T
c.298-10G>T (n.298-10G>T)
c.475-10G>T (n.475-10G>T)
n.943-10G>T
c.182-10G>T
c.310G>T (p.Gly104Cys)
n.642-10G>T
c.691-10G>T (n.691-10G>T)
c.748-10G>T (n.748-10G>T)
20g.63439718C=CA2374791999KCNQ2c.817-10G= (n.817-10G=)
n.555-10G=
c.298-10G= (n.298-10G=)
c.475-10G= (n.475-10G=)
n.943-10G=
c.182-10G=
c.310G= (p.Gly104=)
n.642-10G=
c.691-10G= (n.691-10G=)
c.748-10G= (n.748-10G=)
20g.63439718C>GCA409652812KCNQ2c.817-10G>C (n.817-10G>C)
n.555-10G>C
c.298-10G>C (n.298-10G>C)
c.475-10G>C (n.475-10G>C)
n.943-10G>C
c.182-10G>C
c.310G>C (p.Gly104Arg)
n.642-10G>C
c.691-10G>C (n.691-10G>C)
c.748-10G>C (n.748-10G>C)
20g.63439718C>TCA9958718KCNQ2c.817-10G>A (n.817-10G>A)
n.555-10G>A
c.298-10G>A (n.298-10G>A)
c.475-10G>A (n.475-10G>A)
n.943-10G>A
c.182-10G>A
c.310G>A (p.Gly104Ser)
n.642-10G>A
c.691-10G>A (n.691-10G>A)
c.748-10G>A (n.748-10G>A)
 ClinVar dbSNP ExAC gnomAD v4
20g.63439719delCA2577453649KCNQ2c.817-11del (n.817-11del)
n.555-11del
c.298-11del (n.298-11del)
c.475-11del (n.475-11del)
n.943-11del
c.182-11del
c.309del (p.Cys103TrpfsTer?)
n.642-11del
c.691-11del (n.691-11del)
c.748-11del (n.748-11del)
 gnomAD v4
20g.63439719G>ACA9958719KCNQ2c.817-11C>T (n.817-11C>T)
n.555-11C>T
c.298-11C>T (n.298-11C>T)
c.475-11C>T (n.475-11C>T)
n.943-11C>T
c.182-11C>T
c.309C>T (p.Cys103=)
n.642-11C>T
c.691-11C>T (n.691-11C>T)
c.748-11C>T (n.748-11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63439719G>CCA409652814KCNQ2c.817-11C>G (n.817-11C>G)
n.555-11C>G
c.298-11C>G (n.298-11C>G)
c.475-11C>G (n.475-11C>G)
n.943-11C>G
c.182-11C>G
c.309C>G (p.Cys103Trp)
n.642-11C>G
c.691-11C>G (n.691-11C>G)
c.748-11C>G (n.748-11C>G)
20g.63439719G=CA2374792000KCNQ2c.817-11C= (n.817-11C=)
n.555-11C=
c.298-11C= (n.298-11C=)
c.475-11C= (n.475-11C=)
n.943-11C=
c.182-11C=
c.309C= (p.Cys103=)
n.642-11C=
c.691-11C= (n.691-11C=)
c.748-11C= (n.748-11C=)
20g.63439719G>TCA409652813KCNQ2c.817-11C>A (n.817-11C>A)
n.555-11C>A
c.298-11C>A (n.298-11C>A)
c.475-11C>A (n.475-11C>A)
n.943-11C>A
c.182-11C>A
c.309C>A (p.Cys103Ter)
n.642-11C>A
c.691-11C>A (n.691-11C>A)
c.748-11C>A (n.748-11C>A)
 gnomAD v4
20g.63439720delCA2577453650KCNQ2c.817-12del (n.817-12del)
n.555-12del
c.298-12del (n.298-12del)
c.475-12del (n.475-12del)
n.943-12del
c.182-12del
c.308del (p.Cys103SerfsTer?)
n.642-12del
c.691-12del (n.691-12del)
c.748-12del (n.748-12del)
20g.63439720C>ACA409652816KCNQ2c.817-12G>T (n.817-12G>T)
n.555-12G>T
c.298-12G>T (n.298-12G>T)
c.475-12G>T (n.475-12G>T)
n.943-12G>T
c.182-12G>T
c.308G>T (p.Cys103Phe)
n.642-12G>T
c.691-12G>T (n.691-12G>T)
c.748-12G>T (n.748-12G>T)
 ClinVar dbSNP gnomAD v4
20g.63439720C=CA2374792001KCNQ2c.817-12G= (n.817-12G=)
n.555-12G=
c.298-12G= (n.298-12G=)
c.475-12G= (n.475-12G=)
n.943-12G=
c.182-12G=
c.308G= (p.Cys103=)
n.642-12G=
c.691-12G= (n.691-12G=)
c.748-12G= (n.748-12G=)
20g.63439720C>GCA409652817KCNQ2c.817-12G>C (n.817-12G>C)
n.555-12G>C
c.298-12G>C (n.298-12G>C)
c.475-12G>C (n.475-12G>C)
n.943-12G>C
c.182-12G>C
c.308G>C (p.Cys103Ser)
n.642-12G>C
c.691-12G>C (n.691-12G>C)
c.748-12G>C (n.748-12G>C)
20g.63439720C>TCA409652819KCNQ2c.817-12G>A (n.817-12G>A)
n.555-12G>A
c.298-12G>A (n.298-12G>A)
c.475-12G>A (n.475-12G>A)
n.943-12G>A
c.182-12G>A
c.308G>A (p.Cys103Tyr)
n.642-12G>A
c.691-12G>A (n.691-12G>A)
c.748-12G>A (n.748-12G>A)
20g.63439721A>CCA409652821KCNQ2c.817-13T>G (n.817-13T>G)
n.555-13T>G
c.298-13T>G (n.298-13T>G)
c.475-13T>G (n.475-13T>G)
n.943-13T>G
c.182-13T>G
c.307T>G (p.Cys103Gly)
n.642-13T>G
c.691-13T>G (n.691-13T>G)
c.748-13T>G (n.748-13T>G)
20g.63439721A>GCA409652823KCNQ2c.817-13T>C (n.817-13T>C)
n.555-13T>C
c.298-13T>C (n.298-13T>C)
c.475-13T>C (n.475-13T>C)
n.943-13T>C
c.182-13T>C
c.307T>C (p.Cys103Arg)
n.642-13T>C
c.691-13T>C (n.691-13T>C)
c.748-13T>C (n.748-13T>C)
 gnomAD v4
20g.63439721A>TCA409652824KCNQ2c.817-13T>A (n.817-13T>A)
n.555-13T>A
c.298-13T>A (n.298-13T>A)
c.475-13T>A (n.475-13T>A)
n.943-13T>A
c.182-13T>A
c.307T>A (p.Cys103Ser)
n.642-13T>A
c.691-13T>A (n.691-13T>A)
c.748-13T>A (n.748-13T>A)
20g.63439722G>ACA1019287507KCNQ2c.817-14C>T (n.817-14C>T)
n.555-14C>T
c.298-14C>T (n.298-14C>T)
c.475-14C>T (n.475-14C>T)
n.943-14C>T
c.182-14C>T
c.306C>T (p.Ala102=)
n.642-14C>T
c.691-14C>T (n.691-14C>T)
c.748-14C>T (n.748-14C>T)
 dbSNP gnomAD v4
20g.63439722G=CA2374792002KCNQ2c.817-14C= (n.817-14C=)
n.555-14C=
c.298-14C= (n.298-14C=)
c.475-14C= (n.475-14C=)
n.943-14C=
c.182-14C=
c.306C= (p.Ala102=)
n.642-14C=
c.691-14C= (n.691-14C=)
c.748-14C= (n.748-14C=)
20g.63439722G>TCA2653800811KCNQ2c.817-14C>A (n.817-14C>A)
n.555-14C>A
c.298-14C>A (n.298-14C>A)
c.475-14C>A (n.475-14C>A)
n.943-14C>A
c.182-14C>A
c.306C>A (p.Ala102=)
n.642-14C>A
c.691-14C>A (n.691-14C>A)
c.748-14C>A (n.748-14C>A)
 gnomAD v4
20g.63439723G>ACA9958720KCNQ2c.817-15C>T (n.817-15C>T)
n.555-15C>T
c.298-15C>T (n.298-15C>T)
c.475-15C>T (n.475-15C>T)
n.943-15C>T
c.182-15C>T
c.305C>T (p.Ala102Val)
n.642-15C>T
c.691-15C>T (n.691-15C>T)
c.748-15C>T (n.748-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63439723G>CCA409652826KCNQ2c.817-15C>G (n.817-15C>G)
n.555-15C>G
c.298-15C>G (n.298-15C>G)
c.475-15C>G (n.475-15C>G)
n.943-15C>G
c.182-15C>G
c.305C>G (p.Ala102Gly)
n.642-15C>G
c.691-15C>G (n.691-15C>G)
c.748-15C>G (n.748-15C>G)
20g.63439723G=CA2374792003KCNQ2c.817-15C= (n.817-15C=)
n.555-15C=
c.298-15C= (n.298-15C=)
c.475-15C= (n.475-15C=)
n.943-15C=
c.182-15C=
c.305C= (p.Ala102=)
n.642-15C=
c.691-15C= (n.691-15C=)
c.748-15C= (n.748-15C=)
20g.63439723G>TCA409652827KCNQ2c.817-15C>A (n.817-15C>A)
n.555-15C>A
c.298-15C>A (n.298-15C>A)
c.475-15C>A (n.475-15C>A)
n.943-15C>A
c.182-15C>A
c.305C>A (p.Ala102Asp)
n.642-15C>A
c.691-15C>A (n.691-15C>A)
c.748-15C>A (n.748-15C>A)
 gnomAD v4
20g.63439724C>ACA409652829KCNQ2c.817-16G>T (n.817-16G>T)
n.555-16G>T
c.298-16G>T (n.298-16G>T)
c.475-16G>T (n.475-16G>T)
n.943-16G>T
c.182-16G>T
c.304G>T (p.Ala102Ser)
n.642-16G>T
c.691-16G>T (n.691-16G>T)
c.748-16G>T (n.748-16G>T)
 dbSNP
20g.63439724C=CA2374792004KCNQ2c.817-16G= (n.817-16G=)
n.555-16G=
c.298-16G= (n.298-16G=)
c.475-16G= (n.475-16G=)
n.943-16G=
c.182-16G=
c.304G= (p.Ala102=)
n.642-16G=
c.691-16G= (n.691-16G=)
c.748-16G= (n.748-16G=)
20g.63439724C>GCA409652830KCNQ2c.817-16G>C (n.817-16G>C)
n.555-16G>C
c.298-16G>C (n.298-16G>C)
c.475-16G>C (n.475-16G>C)
n.943-16G>C
c.182-16G>C
c.304G>C (p.Ala102Pro)
n.642-16G>C
c.691-16G>C (n.691-16G>C)
c.748-16G>C (n.748-16G>C)
20g.63439724C>TCA9958721KCNQ2c.817-16G>A (n.817-16G>A)
n.555-16G>A
c.298-16G>A (n.298-16G>A)
c.475-16G>A (n.475-16G>A)
n.943-16G>A
c.182-16G>A
c.304G>A (p.Ala102Thr)
n.642-16G>A
c.691-16G>A (n.691-16G>A)
c.748-16G>A (n.748-16G>A)
 dbSNP ExAC
20g.63439726_63439727delCA2653800816KCNQ2c.817-17_817-16del (n.817-17_817-16del)
n.555-17_555-16del
c.298-17_298-16del (n.298-17_298-16del)
c.475-17_475-16del (n.475-17_475-16del)
n.943-17_943-16del
c.182-17_182-16del
c.303_304del (p.Arg101SerfsTer9)
n.642-17_642-16del
c.691-17_691-16del (n.691-17_691-16del)
c.748-17_748-16del (n.748-17_748-16del)
 gnomAD v4

Number of alleles fetched