Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63439624C>A | CA409652527 | KCNQ2 | c.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) | |
20 | g.63439624C= | CA2374791939 | KCNQ2 | c.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=) | |
20 | g.63439624C>G | CA409652528 | KCNQ2 | c.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) | |
20 | g.63439624C>T | CA10654809 | KCNQ2 | c.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 |
20 | g.63439625G>A | CA9958703 | KCNQ2 | c.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 |
20 | g.63439625G>C | CA409652529 | KCNQ2 | c.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 |
20 | g.63439625G= | CA2374791940 | KCNQ2 | c.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=) | |
20 | g.63439625G>T | CA511208599 | KCNQ2 | c.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=) | |
20 | g.63439626A>C | CA409652530 | KCNQ2 | c.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) | |
20 | g.63439626A>G | CA409652532 | KCNQ2 | c.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) | |
20 | g.63439626A>T | CA409652531 | KCNQ2 | c.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) | |
20 | g.63439627T>A | CA409652533 | KCNQ2 | c.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) | |
20 | g.63439627T>C | CA409652534 | KCNQ2 | c.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) | |
20 | g.63439627T>G | CA409652535 | KCNQ2 | c.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 |
20 | g.63439628G>A | CA409652536 | KCNQ2 | c.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 |
20 | g.63439628G>C | CA409652537 | KCNQ2 | c.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 |
20 | g.63439628G= | CA2374791941 | KCNQ2 | c.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=) | |
20 | g.63439628G>T | CA409652538 | KCNQ2 | c.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=) | |
20 | g.63439629A>C | CA409652539 | KCNQ2 | c.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) | |
20 | g.63439629A>G | CA409652540 | KCNQ2 | c.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) | |
20 | g.63439629A>T | CA409652541 | KCNQ2 | c.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) | |
20 | g.63439630G>A | CA409652542 | KCNQ2 | c.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) | |
20 | g.63439630G>C | CA409652543 | KCNQ2 | c.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 |
20 | g.63439630G>T | CA409652544 | KCNQ2 | c.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) | |
20 | g.63439631G>A | CA409652545 | KCNQ2 | c.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 |
20 | g.63439631G>C | CA409652547 | KCNQ2 | c.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 |
20 | g.63439631G>T | CA409652546 | KCNQ2 | c.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=) | |
20 | g.63439632G>A | CA409652548 | KCNQ2 | c.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) | |
20 | g.63439632G>C | CA409652549 | KCNQ2 | c.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) | |
20 | g.63439632G>T | CA409652550 | KCNQ2 | c.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) | |
20 | g.63439633T>A | CA409652551 | KCNQ2 | c.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) | |
20 | g.63439633T>C | CA409652552 | KCNQ2 | c.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) | |
20 | g.63439633T>G | CA409652553 | KCNQ2 | c.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) | |
20 | g.63439633dup | CA2842758067 | KCNQ2 | c.892dup (p.Thr298AsnfsTer?) n.630dup c.373dup (p.Thr125AsnfsTer?) c.550dup (p.Thr184AsnfsTer?) n.1018dup c.257dup c.36dup c.395dup (p.His132GlnfsTer?) n.717dup c.766dup (p.Thr256AsnfsTer?) c.823dup (p.Thr275AsnfsTer?) | |
20 | g.63439634G>A | CA409652554 | KCNQ2 | c.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 |
20 | g.63439634G>C | CA409652555 | KCNQ2 | c.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 |
20 | g.63439634G= | CA2374791942 | KCNQ2 | c.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=) | |
20 | g.63439634G>T | CA409652556 | KCNQ2 | c.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) | |
20 | g.63439635A>C | CA409652558 | KCNQ2 | c.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) | |
20 | g.63439635A>G | CA409652559 | KCNQ2 | c.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) | |
20 | g.63439635A>T | CA409652557 | KCNQ2 | c.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) | |
20 | g.63439636A>C | CA409652560 | KCNQ2 | c.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) | |
20 | g.63439636A>G | CA409652561 | KCNQ2 | c.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) | |
20 | g.63439636A>T | CA409652562 | KCNQ2 | c.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) | |
20 | g.63439637G>A | CA291788 | KCNQ2 | c.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 |
20 | g.63439637G>C | CA409652563 | KCNQ2 | c.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=) | |
20 | g.63439637G= | CA2374791943 | KCNQ2 | c.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=) | |
20 | g.63439637G>T | CA409652564 | KCNQ2 | c.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=) | |
20 | g.63439638G>A | CA409652565 | KCNQ2 | c.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 |
20 | g.63439638G>C | CA409652566 | KCNQ2 | c.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) | |
20 | g.63439638G= | CA2374791944 | KCNQ2 | c.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=) | |
20 | g.63439638G>T | CA409652567 | KCNQ2 | c.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 |
20 | g.63439639T>A | CA409652568 | KCNQ2 | c.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) | |
20 | g.63439639T>C | CA9958704 | KCNQ2 | c.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 |
20 | g.63439639T>G | CA10654810 | KCNQ2 | c.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 |
20 | g.63439639T= | CA2374791945 | KCNQ2 | c.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=) | |
20 | g.63439640T>A | CA409652571 | KCNQ2 | c.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 |
20 | g.63439640T>C | CA409652569 | KCNQ2 | c.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=) | |
20 | g.63439640T>G | CA409652570 | KCNQ2 | c.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=) | |
20 | g.63439641G>A | CA409652572 | KCNQ2 | c.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) | |
20 | g.63439641G>C | CA409652573 | KCNQ2 | c.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) | |
20 | g.63439641G>T | CA409652574 | KCNQ2 | c.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) | |
20 | g.63439642C>A | CA409652575 | KCNQ2 | c.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 |
20 | g.63439642C= | CA2374791946 | KCNQ2 | c.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=) | |
20 | g.63439642C>G | CA409652576 | KCNQ2 | c.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) | |
20 | g.63439642C>T | CA409652577 | KCNQ2 | c.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) | |
20 | g.63439643del | CA2573157302 | KCNQ2 | c.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 |
20 | g.63439643C>A | CA409652578 | KCNQ2 | c.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 |
20 | g.63439643C= | CA2374791947 | KCNQ2 | c.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=) | |
20 | g.63439643C>G | CA409652579 | KCNQ2 | c.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=) | |
20 | g.63439643C>T | CA9958705 | KCNQ2 | c.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 |
20 | g.63439644G>A | CA278571 | KCNQ2 | c.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 |
20 | g.63439644G>C | CA342537 | KCNQ2 | c.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 |
20 | g.63439644G= | CA2374791948 | KCNQ2 | c.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=) | |
20 | g.63439644G>T | CA409652580 | KCNQ2 | c.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 |
20 | g.63439645C>A | CA409652583 | KCNQ2 | c.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 |
20 | g.63439645C= | CA2374791949 | KCNQ2 | c.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=) | |
20 | g.63439645C>G | CA409652582 | KCNQ2 | c.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 |
20 | g.63439645C>T | CA409652581 | KCNQ2 | c.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) | |
20 | g.63439645dup | CA2586963927 | KCNQ2 | c.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 |
20 | g.63439646A>C | CA409652584 | KCNQ2 | c.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=) | |
20 | g.63439646A>G | CA409652586 | KCNQ2 | c.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 |
20 | g.63439646A>T | CA409652585 | KCNQ2 | c.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=) | |
20 | g.63439647A>C | CA409652587 | KCNQ2 | c.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) | |
20 | g.63439647A>G | CA409652588 | KCNQ2 | c.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 |
20 | g.63439647A>T | CA409652589 | KCNQ2 | c.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) | |
20 | g.63439648G>A | CA409652590 | KCNQ2 | c.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 |
20 | g.63439648G>C | CA409652591 | KCNQ2 | c.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) | |
20 | g.63439648G= | CA2374791951 | KCNQ2 | c.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=) | |
20 | g.63439648G>T | CA409652592 | KCNQ2 | c.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) | |
20 | g.63439648_63439650delinsAGG | CA2695230045 | KCNQ2 | c.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) | |
20 | g.63439648_63439650delinsGGA | CA2374791950 | KCNQ2 | c.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=) | |
20 | g.63439649G>A | CA409652593 | KCNQ2 | c.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 |
20 | g.63439649G>C | CA409652594 | KCNQ2 | c.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 |
20 | g.63439649G= | CA2374791952 | KCNQ2 | c.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=) | |
20 | g.63439649G>T | CA409652595 | KCNQ2 | c.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=) | |
20 | g.63439649_63439650delinsAGG | CA315547 | KCNQ2 | c.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 |
20 | g.63439650A= | CA2374791953 | KCNQ2 | c.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=) | |
20 | g.63439650A>C | CA409652596 | KCNQ2 | c.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) | |
20 | g.63439650A>G | CA16616483 | KCNQ2 | c.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 |
20 | g.63439650A>T | CA409652597 | KCNQ2 | c.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) | |
20 | g.63439651G>A | CA409652598 | KCNQ2 | c.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 |
20 | g.63439651G>C | CA409652600 | KCNQ2 | c.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) | |
20 | g.63439651G>T | CA409652599 | KCNQ2 | c.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) | |
20 | g.63439652C>A | CA16044333 | KCNQ2 | c.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 |
20 | g.63439652C= | CA2374791954 | KCNQ2 | c.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=) | |
20 | g.63439652C>G | CA409652601 | KCNQ2 | c.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 |
20 | g.63439652C>T | CA409652602 | KCNQ2 | c.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 |
20 | g.63439653C>A | CA409652603 | KCNQ2 | c.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) | |
20 | g.63439653C>G | CA409652604 | KCNQ2 | c.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) | |
20 | g.63439653C>T | CA409652605 | KCNQ2 | c.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) | |
20 | g.63439654T>A | CA409652606 | KCNQ2 | c.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) | |
20 | g.63439654T>C | CA409652607 | KCNQ2 | c.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 |
20 | g.63439654T>G | CA409652608 | KCNQ2 | c.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=) | |
20 | g.63439655G>A | CA409652611 | KCNQ2 | c.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 |
20 | g.63439655G>C | CA409652610 | KCNQ2 | c.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=) | |
20 | g.63439655G>T | CA409652609 | KCNQ2 | c.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=) | |
20 | g.63439656C>A | CA409652612 | KCNQ2 | c.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 |
20 | g.63439656C= | CA2374791955 | KCNQ2 | c.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=) | |
20 | g.63439656C>G | CA409652613 | KCNQ2 | c.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) | |
20 | g.63439656C>T | CA130534 | KCNQ2 | c.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 |
20 | g.63439657C>A | CA409652614 | KCNQ2 | c.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 |
20 | g.63439657C= | CA2374791956 | KCNQ2 | c.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=) | |
20 | g.63439657C>G | CA409652615 | KCNQ2 | c.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) | |
20 | g.63439657C>T | CA10654811 | KCNQ2 | c.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 |
20 | g.63439658G>A | CA9958706 | KCNQ2 | c.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 |
20 | g.63439658G>C | CA409652616 | KCNQ2 | c.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) | |
20 | g.63439658G= | CA2374791957 | KCNQ2 | c.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=) | |
20 | g.63439658G>T | CA409652617 | KCNQ2 | c.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 |
20 | g.63439659T>A | CA409652618 | KCNQ2 | c.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) | |
20 | g.63439659T>C | CA409652619 | KCNQ2 | c.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) | |
20 | g.63439659T>G | CA409652620 | KCNQ2 | c.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) | |
20 | g.63439660T>A | CA409652623 | KCNQ2 | c.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) | |
20 | g.63439660T>C | CA409652622 | KCNQ2 | c.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) | |
20 | g.63439660T>G | CA409652621 | KCNQ2 | c.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) | |
20 | g.63439661C>A | CA409652624 | KCNQ2 | c.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) | |
20 | g.63439661C= | CA2374791958 | KCNQ2 | c.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=) | |
20 | g.63439661C>G | CA409652625 | KCNQ2 | c.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 |
20 | g.63439661C>T | CA409652626 | KCNQ2 | c.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) | |
20 | g.63439662C>A | CA409652627 | KCNQ2 | c.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) | |
20 | g.63439662C>G | CA409652628 | KCNQ2 | c.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) | |
20 | g.63439662C>T | CA409652629 | KCNQ2 | c.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) | |
20 | g.63439663A>C | CA409652630 | KCNQ2 | c.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) | |
20 | g.63439663A>G | CA409652631 | KCNQ2 | c.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) | |
20 | g.63439663A>T | CA409652632 | KCNQ2 | c.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) | |
20 | g.63439664G>A | CA9958708 | KCNQ2 | c.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 |
20 | g.63439664G>C | CA9958707 | KCNQ2 | c.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 |
20 | g.63439664G= | CA2374791959 | KCNQ2 | c.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=) | |
20 | g.63439664G>T | CA409652633 | KCNQ2 | c.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=) | |
20 | g.63439665G>A | CA234149 | KCNQ2 | c.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 |
20 | g.63439665G>C | CA409652634 | KCNQ2 | c.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) | |
20 | g.63439665G= | CA2374791960 | KCNQ2 | c.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=) | |
20 | g.63439665G>T | CA10654812 | KCNQ2 | c.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 |
20 | g.63439666T>A | CA409652635 | KCNQ2 | c.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) | |
20 | g.63439666T>C | CA409652636 | KCNQ2 | c.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) | |
20 | g.63439666T>G | CA409652637 | KCNQ2 | c.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) | |
20 | g.63439667C>A | CA409652638 | KCNQ2 | c.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) | |
20 | g.63439667C= | CA2374791961 | KCNQ2 | c.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=) | |
20 | g.63439667C>G | CA409652640 | KCNQ2 | c.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) | |
20 | g.63439667C>T | CA317456381 | KCNQ2 | c.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 |
20 | g.63439668T>A | CA409652643 | KCNQ2 | c.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) | |
20 | g.63439668T>C | CA409652642 | KCNQ2 | c.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) | |
20 | g.63439668T>G | CA409652641 | KCNQ2 | c.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 |
20 | g.63439668T= | CA2374791962 | KCNQ2 | c.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=) | |
20 | g.63439669G>A | CA409652644 | KCNQ2 | c.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) | |
20 | g.63439669G>C | CA409652645 | KCNQ2 | c.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 |
20 | g.63439669G>T | CA409652646 | KCNQ2 | c.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) | |
20 | g.63439673dup | CA658799387 | KCNQ2 | c.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 |
20 | g.63439673del | CA2573157304 | KCNQ2 | c.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 |
20 | g.63439670G>A | CA317456386 | KCNQ2 | c.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 |
20 | g.63439670G>C | CA9958709 | KCNQ2 | c.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 |
20 | g.63439670G= | CA2374791963 | KCNQ2 | c.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=) | |
20 | g.63439670G>T | CA409652649 | KCNQ2 | c.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=) | |
20 | g.63439671G>A | CA409652651 | KCNQ2 | c.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 |
20 | g.63439671G>C | CA409652653 | KCNQ2 | c.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) | |
20 | g.63439671G= | CA2374791964 | KCNQ2 | c.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=) | |
20 | g.63439671G>T | CA10654813 | KCNQ2 | c.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 |
20 | g.63439672G>A | CA409652655 | KCNQ2 | c.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 |
20 | g.63439672G>C | CA409652656 | KCNQ2 | c.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) | |
20 | g.63439672G= | CA2374791965 | KCNQ2 | c.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=) | |
20 | g.63439672G>T | CA409652658 | KCNQ2 | c.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) | |
20 | g.63439673G>A | CA409652659 | KCNQ2 | c.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 |
20 | g.63439673G>C | CA409652660 | KCNQ2 | c.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) | |
20 | g.63439673G= | CA2374791966 | KCNQ2 | c.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=) | |
20 | g.63439673G>T | CA409652661 | KCNQ2 | c.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) | |
20 | g.63439674T>A | CA409652662 | KCNQ2 | c.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) | |
20 | g.63439674T>C | CA340673 | KCNQ2 | c.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 |
20 | g.63439674T>G | CA409652663 | KCNQ2 | c.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) | |
20 | g.63439674T= | CA2374791967 | KCNQ2 | c.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=) | |
20 | g.63439675A= | CA2374791968 | KCNQ2 | c.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=) | |
20 | g.63439675A>C | CA347949 | KCNQ2 | c.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 |
20 | g.63439675A>G | CA409652665 | KCNQ2 | c.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 |
20 | g.63439675A>T | CA409652666 | KCNQ2 | c.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 |
20 | g.63439675_63439676dup | CA2695230046 | KCNQ2 | c.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?) | |
20 | g.63439676C>A | CA409652669 | KCNQ2 | c.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 |
20 | g.63439676C= | CA2374791969 | KCNQ2 | c.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=) | |
20 | g.63439676C>G | CA409652668 | KCNQ2 | c.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) | |
20 | g.63439676C>T | CA317456394 | KCNQ2 | c.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 |
20 | g.63439676_63439677delinsCT | CA2374791970 | KCNQ2 | c.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=) | |
20 | g.63439677T>A | CA409652671 | KCNQ2 | c.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) | |
20 | g.63439677T>C | CA315406 | KCNQ2 | c.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 |
20 | g.63439677T>G | CA409652672 | KCNQ2 | c.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) | |
20 | g.63439677T= | CA2374791971 | KCNQ2 | c.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=) | |
20 | g.63439678del | CA658799388 | KCNQ2 | c.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 |
20 | g.63439677_63439678insAC | CA342536 | KCNQ2 | c.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 |
20 | g.63439678T>A | CA409652674 | KCNQ2 | c.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) | |
20 | g.63439678T>C | CA409652675 | KCNQ2 | c.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 |
20 | g.63439678T>G | CA409652676 | KCNQ2 | c.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) | |
20 | g.63439678T= | CA2374791972 | KCNQ2 | c.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=) | |
20 | g.63439679G>A | CA409652677 | KCNQ2 | c.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 |
20 | g.63439679G>C | CA409652678 | KCNQ2 | c.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) | |
20 | g.63439679G>T | CA409652679 | KCNQ2 | c.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 |
20 | g.63439679_63439680delinsGT | CA2374791973 | KCNQ2 | c.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=) | |
20 | g.63439680del | CA891843763 | KCNQ2 | c.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 |
20 | g.63439680T>A | CA409652680 | KCNQ2 | c.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 |
20 | g.63439680T>C | CA409652682 | KCNQ2 | c.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) | |
20 | g.63439680T>G | CA409652683 | KCNQ2 | c.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) | |
20 | g.63439680T= | CA2374791974 | KCNQ2 | c.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=) | |
20 | g.63439681C>A | CA409652686 | KCNQ2 | c.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) | |
20 | g.63439681C= | CA2374791975 | KCNQ2 | c.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=) | |
20 | g.63439681C>G | CA409652684 | KCNQ2 | c.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 |
20 | g.63439681C>T | CA315404 | KCNQ2 | c.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 |
20 | g.63439682C>A | CA409652687 | KCNQ2 | c.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=) | |
20 | g.63439682C>G | CA409652689 | KCNQ2 | c.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=) | |
20 | g.63439682C>T | CA409652691 | KCNQ2 | c.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 |
20 | g.63439683C>A | CA409652692 | KCNQ2 | c.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) | |
20 | g.63439683C= | CA2374791976 | KCNQ2 | c.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=) | |
20 | g.63439683C>G | CA409652694 | KCNQ2 | c.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) | |
20 | g.63439683C>T | CA16620971 | KCNQ2 | c.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 |
20 | g.63439684C>A | CA209998 | KCNQ2 | c.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 |
20 | g.63439684C= | CA2374791977 | KCNQ2 | c.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=) | |
20 | g.63439684C>G | CA409652696 | KCNQ2 | c.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 |
20 | g.63439684C>T | CA303047 | KCNQ2 | c.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 |
20 | g.63439685G>A | CA9958710 | KCNQ2 | c.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 |
20 | g.63439685G>C | CA409652699 | KCNQ2 | c.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) | |
20 | g.63439685G= | CA2374791978 | KCNQ2 | c.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=) | |
20 | g.63439685G>T | CA409652700 | KCNQ2 | c.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) | |
20 | g.63439686T>A | CA409652701 | KCNQ2 | c.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) | |
20 | g.63439686T>C | CA409652704 | KCNQ2 | c.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 |
20 | g.63439686T>G | CA409652703 | KCNQ2 | c.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) | |
20 | g.63439686T= | CA2374791979 | KCNQ2 | c.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=) | |
20 | g.63439687A= | CA2374791980 | KCNQ2 | c.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=) | |
20 | g.63439687A>C | CA409652706 | KCNQ2 | c.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) | |
20 | g.63439687A>G | CA409652707 | KCNQ2 | c.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 |
20 | g.63439687A>T | CA409652708 | KCNQ2 | c.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) | |
20 | g.63439688G>A | CA511208859 | KCNQ2 | c.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=) | |
20 | g.63439688G>C | CA409652709 | KCNQ2 | c.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 |
20 | g.63439688G>T | CA409652710 | KCNQ2 | c.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=) | |
20 | g.63439689C>A | CA409652715 | KCNQ2 | c.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 |
20 | g.63439689C>G | CA409652714 | KCNQ2 | c.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) | |
20 | g.63439689C>T | CA409652712 | KCNQ2 | c.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 |
20 | g.63439690C>A | CA10654814 | KCNQ2 | c.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 |
20 | g.63439690C= | CA2374791981 | KCNQ2 | c.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=) | |
20 | g.63439690C>G | CA409652717 | KCNQ2 | c.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) | |
20 | g.63439690C>T | CA409652718 | KCNQ2 | c.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 |
20 | g.63439691A= | CA2374791982 | KCNQ2 | c.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=) | |
20 | g.63439691A>C | CA409652720 | KCNQ2 | c.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 |
20 | g.63439691A>G | CA409652722 | KCNQ2 | c.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 |
20 | g.63439691A>T | CA409652723 | KCNQ2 | c.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=) | |
20 | g.63439692A= | CA2374791983 | KCNQ2 | c.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=) | |
20 | g.63439692A>C | CA409652726 | KCNQ2 | c.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) | |
20 | g.63439692A>G | CA409652725 | KCNQ2 | c.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 |
20 | g.63439692A>T | CA16609051 | KCNQ2 | c.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 |
20 | g.63439693T>A | CA409652727 | KCNQ2 | c.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 |
20 | g.63439693T>C | CA9958711 | KCNQ2 | c.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 |
20 | g.63439693T>G | CA409652728 | KCNQ2 | c.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) | |
20 | g.63439693T= | CA2374791984 | KCNQ2 | c.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=) | |
20 | g.63439694G>A | CA409652730 | KCNQ2 | c.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 |
20 | g.63439694G>C | CA409652732 | KCNQ2 | c.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=) | |
20 | g.63439694G>T | CA409652733 | KCNQ2 | c.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=) | |
20 | g.63439695G>A | CA409652734 | KCNQ2 | c.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 |
20 | g.63439695G>C | CA409652735 | KCNQ2 | c.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 |
20 | g.63439695G= | CA2374791985 | KCNQ2 | c.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=) | |
20 | g.63439695G>T | CA409652736 | KCNQ2 | c.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 |
20 | g.63439696T>A | CA409652738 | KCNQ2 | c.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 |
20 | g.63439696T>C | CA409652740 | KCNQ2 | c.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 |
20 | g.63439696T>G | CA409652741 | KCNQ2 | c.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 |
20 | g.63439696T= | CA2374791986 | KCNQ2 | c.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=) | |
20 | g.63439697G>A | CA409652743 | KCNQ2 | c.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 |
20 | g.63439697G>C | CA409652745 | KCNQ2 | c.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=) | |
20 | g.63439697G>T | CA409652744 | KCNQ2 | c.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=) | |
20 | g.63439698G>A | CA10654815 | KCNQ2 | c.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 |
20 | g.63439698G>C | CA409652746 | KCNQ2 | c.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) | |
20 | g.63439698G= | CA2374791987 | KCNQ2 | c.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=) | |
20 | g.63439698G>T | CA409652747 | KCNQ2 | c.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 |
20 | g.63439699T>A | CA409652749 | KCNQ2 | c.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) | |
20 | g.63439699T>C | CA409652750 | KCNQ2 | c.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) | |
20 | g.63439699T>G | CA409652752 | KCNQ2 | c.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 |
20 | g.63439700C>A | CA409652753 | KCNQ2 | c.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=) | |
20 | g.63439700C= | CA2374791988 | KCNQ2 | c.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=) | |
20 | g.63439700C>G | CA409652754 | KCNQ2 | c.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=) | |
20 | g.63439700C>T | CA409652756 | KCNQ2 | c.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 |
20 | g.63439701A>C | CA409652758 | KCNQ2 | c.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) | |
20 | g.63439701A>G | CA409652760 | KCNQ2 | c.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) | |
20 | g.63439701A>T | CA409652761 | KCNQ2 | c.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) | |
20 | g.63439702G>A | CA409652766 | KCNQ2 | c.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=) | |
20 | g.63439702G>C | CA409652763 | KCNQ2 | c.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 |
20 | g.63439702G>T | CA409652764 | KCNQ2 | c.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) | |
20 | g.63439703C>A | CA317456440 | KCNQ2 | c.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 |
20 | g.63439703C= | CA2374791989 | KCNQ2 | c.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=) | |
20 | g.63439703C>G | CA409652767 | KCNQ2 | c.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=) | |
20 | g.63439703C>T | CA9958712 | KCNQ2 | c.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 |
20 | g.63439704G>A | CA278569 | KCNQ2 | c.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 |
20 | g.63439704G>C | CA409652769 | KCNQ2 | c.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) | |
20 | g.63439704G= | CA2374791990 | KCNQ2 | c.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=) | |
20 | g.63439704G>T | CA409652770 | KCNQ2 | c.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) | |
20 | g.63439705T>A | CA409652772 | KCNQ2 | c.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) | ClinVar |
20 | g.63439705T>C | CA409652773 | KCNQ2 | c.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) | |
20 | g.63439705T>G | CA409652774 | KCNQ2 | c.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) | |
20 | g.63439706G>A | CA9958713 | KCNQ2 | c.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 |
20 | g.63439706G>C | CA16620972 | KCNQ2 | c.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 |
20 | g.63439706G= | CA2374791991 | KCNQ2 | c.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=) | |
20 | g.63439706G>T | CA409652776 | KCNQ2 | c.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=) | |
20 | g.63439707A= | CA2374791992 | KCNQ2 | c.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=) | |
20 | g.63439707A>C | CA409652777 | KCNQ2 | c.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) | |
20 | g.63439707A>G | CA409652778 | KCNQ2 | c.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) | |
20 | g.63439707A>T | CA315402 | KCNQ2 | c.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 |
20 | g.63439708T>A | CA409652781 | KCNQ2 | c.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) | |
20 | g.63439708T>C | CA409652780 | KCNQ2 | c.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) | |
20 | g.63439708T>G | CA409652782 | KCNQ2 | c.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) | |
20 | g.63439708_63439709delinsAT | CA2573054901 | KCNQ2 | c.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 |
20 | g.63439709C>A | CA409652784 | KCNQ2 | c.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) | |
20 | g.63439709C>G | CA409652786 | KCNQ2 | c.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) | |
20 | g.63439709C>T | CA409652785 | KCNQ2 | c.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 |
20 | g.63439710T>A | CA409652787 | KCNQ2 | c.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) | |
20 | g.63439710T>C | CA409652788 | KCNQ2 | c.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 |
20 | g.63439710T>G | CA409652790 | KCNQ2 | c.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) | |
20 | g.63439711G>A | CA409652791 | KCNQ2 | c.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 |
20 | g.63439711G>C | CA409652793 | KCNQ2 | c.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) | |
20 | g.63439711G= | CA2374791993 | KCNQ2 | c.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=) | |
20 | g.63439711G>T | CA409652794 | KCNQ2 | c.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) | |
20 | g.63439712T>A | CA409652795 | KCNQ2 | c.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) | |
20 | g.63439712T>C | CA317456455 | KCNQ2 | c.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 |
20 | g.63439712T>G | CA409652798 | KCNQ2 | c.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) | |
20 | g.63439712T= | CA2374791994 | KCNQ2 | c.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=) | |
20 | g.63439713G>A | CA9958714 | KCNQ2 | c.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 |
20 | g.63439713G= | CA2374791995 | KCNQ2 | c.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=) | |
20 | g.63439713G>T | CA2653800779 | KCNQ2 | c.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 |
20 | g.63439714G>A | CA409652802 | KCNQ2 | c.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) | |
20 | g.63439714G>C | CA9958715 | KCNQ2 | c.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 |
20 | g.63439714G= | CA2374791996 | KCNQ2 | c.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=) | |
20 | g.63439714G>T | CA409652800 | KCNQ2 | c.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 |
20 | g.63439715G>A | CA409652804 | KCNQ2 | c.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) | |
20 | g.63439715G>C | CA409652805 | KCNQ2 | c.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) | |
20 | g.63439715G>T | CA409652806 | KCNQ2 | c.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 |
20 | g.63439716A= | CA2374791997 | KCNQ2 | c.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=) | |
20 | g.63439716A>C | CA9958716 | KCNQ2 | c.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 |
20 | g.63439716A>T | CA2653800790 | KCNQ2 | c.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 |
20 | g.63439717C>A | CA409652807 | KCNQ2 | c.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) | |
20 | g.63439717C= | CA2374791998 | KCNQ2 | c.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=) | |
20 | g.63439717C>G | CA409652809 | KCNQ2 | c.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 |
20 | g.63439717C>T | CA9958717 | KCNQ2 | c.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 |
20 | g.63439718_63439720del | CA2838371801 | KCNQ2 | c.817-11_817-9del (n.817-11_817-9del) n.555-11_555-9del c.298-11_298-9del (n.298-11_298-9del) c.475-11_475-9del (n.475-11_475-9del) n.943-11_943-9del c.182-11_182-9del c.309_311del (p.Gly104del) n.642-11_642-9del c.691-11_691-9del (n.691-11_691-9del) c.748-11_748-9del (n.748-11_748-9del) | |
20 | g.63439718C>A | CA409652811 | KCNQ2 | c.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) | |
20 | g.63439718C= | CA2374791999 | KCNQ2 | c.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=) | |
20 | g.63439718C>G | CA409652812 | KCNQ2 | c.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) | |
20 | g.63439718C>T | CA9958718 | KCNQ2 | c.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 |
20 | g.63439719del | CA2577453649 | KCNQ2 | c.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 |
20 | g.63439719G>A | CA9958719 | KCNQ2 | c.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 |
20 | g.63439719G>C | CA409652814 | KCNQ2 | c.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) | |
20 | g.63439719G= | CA2374792000 | KCNQ2 | c.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=) | |
20 | g.63439719G>T | CA409652813 | KCNQ2 | c.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 |
20 | g.63439720del | CA2577453650 | KCNQ2 | c.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) | |
20 | g.63439720C>A | CA409652816 | KCNQ2 | c.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 |
20 | g.63439720C= | CA2374792001 | KCNQ2 | c.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=) | |
20 | g.63439720C>G | CA409652817 | KCNQ2 | c.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) | |
20 | g.63439720C>T | CA409652819 | KCNQ2 | c.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) | |
20 | g.63439721A>C | CA409652821 | KCNQ2 | c.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) | |
20 | g.63439721A>G | CA409652823 | KCNQ2 | c.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 |
20 | g.63439721A>T | CA409652824 | KCNQ2 | c.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) | |
20 | g.63439722G>A | CA1019287507 | KCNQ2 | c.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 |
20 | g.63439722G= | CA2374792002 | KCNQ2 | c.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=) | |
20 | g.63439722G>T | CA2653800811 | KCNQ2 | c.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 |
20 | g.63439723G>A | CA9958720 | KCNQ2 | c.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 |
20 | g.63439723G>C | CA409652826 | KCNQ2 | c.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) | |
20 | g.63439723G= | CA2374792003 | KCNQ2 | c.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=) | |
20 | g.63439723G>T | CA409652827 | KCNQ2 | c.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 |
20 | g.63439724C>A | CA409652829 | KCNQ2 | c.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 |
20 | g.63439724C= | CA2374792004 | KCNQ2 | c.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=) | |
20 | g.63439724C>G | CA409652830 | KCNQ2 | c.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) | |
20 | g.63439724C>T | CA9958721 | KCNQ2 | c.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 |
20 | g.63439726_63439727del | CA2653800816 | KCNQ2 | c.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 |