Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2570658G>A | CA379129848 | KCNQ1 | c.247G>A (p.Glu83Lys) c.478-12777G>A (n.478-12777G>A) c.508G>A (p.Glu170Lys) c.127G>A (p.Glu43Lys) c.124-12777G>A (n.124-12777G>A) | COSMIC COSMIC |
11 | g.2570658G>C | CA379129849 | KCNQ1 | c.247G>C (p.Glu83Gln) c.478-12777G>C (n.478-12777G>C) c.508G>C (p.Glu170Gln) c.127G>C (p.Glu43Gln) c.124-12777G>C (n.124-12777G>C) | |
11 | g.2570658G>T | CA379129850 | KCNQ1 | c.247G>T (p.Glu83Ter) c.478-12777G>T (n.478-12777G>T) c.508G>T (p.Glu170Ter) c.127G>T (p.Glu43Ter) c.124-12777G>T (n.124-12777G>T) | gnomAD v4 |
11 | g.2570659A>C | CA379129853 | KCNQ1 | c.248A>C (p.Glu83Ala) c.478-12776A>C (n.478-12776A>C) c.509A>C (p.Glu170Ala) c.128A>C (p.Glu43Ala) c.124-12776A>C (n.124-12776A>C) | |
11 | g.2570659A>G | CA379129851 | KCNQ1 | c.248A>G (p.Glu83Gly) c.478-12776A>G (n.478-12776A>G) c.509A>G (p.Glu170Gly) c.128A>G (p.Glu43Gly) c.124-12776A>G (n.124-12776A>G) | ClinVar |
11 | g.2570659A>T | CA379129852 | KCNQ1 | c.248A>T (p.Glu83Val) c.478-12776A>T (n.478-12776A>T) c.509A>T (p.Glu170Val) c.128A>T (p.Glu43Val) c.124-12776A>T (n.124-12776A>T) | |
11 | g.2570659_2570660delinsAG | CA1948239517 | KCNQ1 | c.248_249delinsAG (p.Glu83=) c.478-12776_478-12775delinsAG (n.478-12776_478-12775delinsAG) c.509_510delinsAG (p.Glu170=) c.128_129delinsAG (p.Glu43=) c.124-12776_124-12775delinsAG (n.124-12776_124-12775delinsAG) | |
11 | g.2570660del | CA658797566 | KCNQ1 | c.249del (p.Glu83AspfsTer?) c.478-12775del (n.478-12775del) c.510del (p.Glu170AspfsTer?) c.129del (p.Glu43AspfsTer?) c.124-12775del (n.124-12775del) | ClinVar dbSNP |
11 | g.2570660G>A | CA472037787 | KCNQ1 | c.249G>A (p.Glu83=) c.478-12775G>A (n.478-12775G>A) c.510G>A (p.Glu170=) c.129G>A (p.Glu43=) c.124-12775G>A (n.124-12775G>A) | |
11 | g.2570660G>C | CA379129854 | KCNQ1 | c.249G>C (p.Glu83Asp) c.478-12775G>C (n.478-12775G>C) c.510G>C (p.Glu170Asp) c.129G>C (p.Glu43Asp) c.124-12775G>C (n.124-12775G>C) | |
11 | g.2570660G>T | CA379129855 | KCNQ1 | c.249G>T (p.Glu83Asp) c.478-12775G>T (n.478-12775G>T) c.510G>T (p.Glu170Asp) c.129G>T (p.Glu43Asp) c.124-12775G>T (n.124-12775G>T) | |
11 | g.2570661T>A | CA379129856 | KCNQ1 | c.250T>A (p.Tyr84Asn) c.478-12774T>A (n.478-12774T>A) c.511T>A (p.Tyr171Asn) c.130T>A (p.Tyr44Asn) c.124-12774T>A (n.124-12774T>A) | |
11 | g.2570661T>C | CA379129857 | KCNQ1 | c.250T>C (p.Tyr84His) c.478-12774T>C (n.478-12774T>C) c.511T>C (p.Tyr171His) c.130T>C (p.Tyr44His) c.124-12774T>C (n.124-12774T>C) | ClinVar dbSNP |
11 | g.2570661T>G | CA379129858 | KCNQ1 | c.250T>G (p.Tyr84Asp) c.478-12774T>G (n.478-12774T>G) c.511T>G (p.Tyr171Asp) c.130T>G (p.Tyr44Asp) c.124-12774T>G (n.124-12774T>G) | |
11 | g.2570661T= | CA1948239525 | KCNQ1 | c.250T= (p.Tyr84=) c.478-12774T= (n.478-12774T=) c.511T= (p.Tyr171=) c.130T= (p.Tyr44=) c.124-12774T= (n.124-12774T=) | |
11 | g.2570662A>C | CA379129861 | KCNQ1 | c.251A>C (p.Tyr84Ser) c.478-12773A>C (n.478-12773A>C) c.512A>C (p.Tyr171Ser) c.131A>C (p.Tyr44Ser) c.124-12773A>C (n.124-12773A>C) | |
11 | g.2570662A>G | CA379129860 | KCNQ1 | c.251A>G (p.Tyr84Cys) c.478-12773A>G (n.478-12773A>G) c.512A>G (p.Tyr171Cys) c.131A>G (p.Tyr44Cys) c.124-12773A>G (n.124-12773A>G) | |
11 | g.2570662A>T | CA379129859 | KCNQ1 | c.251A>T (p.Tyr84Phe) c.478-12773A>T (n.478-12773A>T) c.512A>T (p.Tyr171Phe) c.131A>T (p.Tyr44Phe) c.124-12773A>T (n.124-12773A>T) | |
11 | g.2570662_2570663delinsAC | CA1948239528 | KCNQ1 | c.251_252delinsAC (p.Tyr84=) c.478-12773_478-12772delinsAC (n.478-12773_478-12772delinsAC) c.512_513delinsAC (p.Tyr171=) c.131_132delinsAC (p.Tyr44=) c.124-12773_124-12772delinsAC (n.124-12773_124-12772delinsAC) | |
11 | g.2570663del | CA915947933 | KCNQ1 | c.252del (p.Tyr84Ter) c.478-12772del (n.478-12772del) c.513del (p.Tyr171Ter) c.132del (p.Tyr44Ter) c.124-12772del (n.124-12772del) | ClinVar dbSNP |
11 | g.2570663C>A | CA10588516 | KCNQ1 | c.252C>A (p.Tyr84Ter) c.478-12772C>A (n.478-12772C>A) c.513C>A (p.Tyr171Ter) c.132C>A (p.Tyr44Ter) c.124-12772C>A (n.124-12772C>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2570663C= | CA1948239540 | KCNQ1 | c.252C= (p.Tyr84=) c.478-12772C= (n.478-12772C=) c.513C= (p.Tyr171=) c.132C= (p.Tyr44=) c.124-12772C= (n.124-12772C=) | |
11 | g.2570663C>G | CA007295 | KCNQ1 | c.252C>G (p.Tyr84Ter) c.478-12772C>G (n.478-12772C>G) c.513C>G (p.Tyr171Ter) c.132C>G (p.Tyr44Ter) c.124-12772C>G (n.124-12772C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570663C>T | CA007303 | KCNQ1 | c.252C>T (p.Tyr84=) c.478-12772C>T (n.478-12772C>T) c.513C>T (p.Tyr171=) c.132C>T (p.Tyr44=) c.124-12772C>T (n.124-12772C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570664G>A | CA007311 | KCNQ1 | c.253G>A (p.Val85Met) c.478-12771G>A (n.478-12771G>A) c.514G>A (p.Val172Met) c.133G>A (p.Val45Met) c.124-12771G>A (n.124-12771G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2570664G>C | CA379129862 | KCNQ1 | c.253G>C (p.Val85Leu) c.478-12771G>C (n.478-12771G>C) c.514G>C (p.Val172Leu) c.133G>C (p.Val45Leu) c.124-12771G>C (n.124-12771G>C) | ClinVar dbSNP gnomAD v4 |
11 | g.2570664G= | CA1948239560 | KCNQ1 | c.253G= (p.Val85=) c.478-12771G= (n.478-12771G=) c.514G= (p.Val172=) c.133G= (p.Val45=) c.124-12771G= (n.124-12771G=) | |
11 | g.2570664G>T | CA379129863 | KCNQ1 | c.253G>T (p.Val85Leu) c.478-12771G>T (n.478-12771G>T) c.514G>T (p.Val172Leu) c.133G>T (p.Val45Leu) c.124-12771G>T (n.124-12771G>T) | |
11 | g.2570664_2570674dup | CA2580082603 | KCNQ1 | c.253_263dup (p.Gly92SerfsTer?) c.478-12771_478-12761dup (n.478-12771_478-12761dup) c.514_524dup (p.Gly179SerfsTer?) c.133_143dup (p.Gly52SerfsTer?) c.124-12771_124-12761dup (n.124-12771_124-12761dup) | ClinVar |
11 | g.2570664_2570675delinsGTGGTCCGCCTC | CA1948239562 | KCNQ1 | c.253_264delinsGTGGTCCGCCTC (p.Val85=) c.478-12771_478-12760delinsGTGGTCCGCCTC (n.478-12771_478-12760delinsGTGGTCCGCCTC) c.514_525delinsGTGGTCCGCCTC (p.Val172=) c.133_144delinsGTGGTCCGCCTC (p.Val45=) c.124-12771_124-12760delinsGTGGTCCGCCTC (n.124-12771_124-12760delinsGTGGTCCGCCTC) | |
11 | g.2570665T>A | CA038152 | KCNQ1 | c.254T>A (p.Val85Glu) c.478-12770T>A (n.478-12770T>A) c.515T>A (p.Val172Glu) c.134T>A (p.Val45Glu) c.124-12770T>A (n.124-12770T>A) | dbSNP ExAC gnomAD v2 |
11 | g.2570665T>C | CA379129865 | KCNQ1 | c.254T>C (p.Val85Ala) c.478-12770T>C (n.478-12770T>C) c.515T>C (p.Val172Ala) c.134T>C (p.Val45Ala) c.124-12770T>C (n.124-12770T>C) | |
11 | g.2570665T>G | CA379129864 | KCNQ1 | c.254T>G (p.Val85Gly) c.478-12770T>G (n.478-12770T>G) c.515T>G (p.Val172Gly) c.134T>G (p.Val45Gly) c.124-12770T>G (n.124-12770T>G) | |
11 | g.2570665T= | CA1948239580 | KCNQ1 | c.254T= (p.Val85=) c.478-12770T= (n.478-12770T=) c.515T= (p.Val172=) c.134T= (p.Val45=) c.124-12770T= (n.124-12770T=) | |
11 | g.2570674_2570684dup | CA10586242 | KCNQ1 | c.263_273dup (p.Gly92SerfsTer?) c.478-12761_478-12751dup (n.478-12761_478-12751dup) c.524_534dup (p.Gly179SerfsTer?) c.143_153dup (p.Gly52SerfsTer?) c.124-12761_124-12751dup (n.124-12761_124-12751dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570674_2570684del | CA5822077 | KCNQ1 | c.263_273del (p.Leu88ArgfsTer?) c.478-12761_478-12751del (n.478-12761_478-12751del) c.524_534del (p.Leu175ArgfsTer?) c.143_153del (p.Leu48ArgfsTer?) c.124-12761_124-12751del (n.124-12761_124-12751del) | ClinVar dbSNP ExAC gnomAD v4 |
11 | g.2570666G>A | CA472037795 | KCNQ1 | c.255G>A (p.Val85=) c.478-12769G>A (n.478-12769G>A) c.516G>A (p.Val172=) c.135G>A (p.Val45=) c.124-12769G>A (n.124-12769G>A) | |
11 | g.2570666G>C | CA472037796 | KCNQ1 | c.255G>C (p.Val85=) c.478-12769G>C (n.478-12769G>C) c.516G>C (p.Val172=) c.135G>C (p.Val45=) c.124-12769G>C (n.124-12769G>C) | |
11 | g.2570666G= | CA1948239587 | KCNQ1 | c.255G= (p.Val85=) c.478-12769G= (n.478-12769G=) c.516G= (p.Val172=) c.135G= (p.Val45=) c.124-12769G= (n.124-12769G=) | |
11 | g.2570666G>T | CA038169 | KCNQ1 | c.255G>T (p.Val85=) c.478-12769G>T (n.478-12769G>T) c.516G>T (p.Val172=) c.135G>T (p.Val45=) c.124-12769G>T (n.124-12769G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570667G>A | CA379129866 | KCNQ1 | c.256G>A (p.Val86Ile) c.478-12768G>A (n.478-12768G>A) c.517G>A (p.Val173Ile) c.136G>A (p.Val46Ile) c.124-12768G>A (n.124-12768G>A) | |
11 | g.2570667G>C | CA379129867 | KCNQ1 | c.256G>C (p.Val86Leu) c.478-12768G>C (n.478-12768G>C) c.517G>C (p.Val173Leu) c.136G>C (p.Val46Leu) c.124-12768G>C (n.124-12768G>C) | |
11 | g.2570667G>T | CA379129868 | KCNQ1 | c.256G>T (p.Val86Phe) c.478-12768G>T (n.478-12768G>T) c.517G>T (p.Val173Phe) c.136G>T (p.Val46Phe) c.124-12768G>T (n.124-12768G>T) | gnomAD v4 |
11 | g.2570668T>A | CA007313 | KCNQ1 | c.257T>A (p.Val86Asp) c.478-12767T>A (n.478-12767T>A) c.518T>A (p.Val173Asp) c.137T>A (p.Val46Asp) c.124-12767T>A (n.124-12767T>A) | ClinVar dbSNP |
11 | g.2570668T>C | CA379129869 | KCNQ1 | c.257T>C (p.Val86Ala) c.478-12767T>C (n.478-12767T>C) c.518T>C (p.Val173Ala) c.137T>C (p.Val46Ala) c.124-12767T>C (n.124-12767T>C) | |
11 | g.2570668T>G | CA379129870 | KCNQ1 | c.257T>G (p.Val86Gly) c.478-12767T>G (n.478-12767T>G) c.518T>G (p.Val173Gly) c.137T>G (p.Val46Gly) c.124-12767T>G (n.124-12767T>G) | |
11 | g.2570668T= | CA1948239598 | KCNQ1 | c.257T= (p.Val86=) c.478-12767T= (n.478-12767T=) c.518T= (p.Val173=) c.137T= (p.Val46=) c.124-12767T= (n.124-12767T=) | |
11 | g.2570669C>A | CA472037801 | KCNQ1 | c.258C>A (p.Val86=) c.478-12766C>A (n.478-12766C>A) c.519C>A (p.Val173=) c.138C>A (p.Val46=) c.124-12766C>A (n.124-12766C>A) | ClinVar dbSNP |
11 | g.2570669C= | CA1948239606 | KCNQ1 | c.258C= (p.Val86=) c.478-12766C= (n.478-12766C=) c.519C= (p.Val173=) c.138C= (p.Val46=) c.124-12766C= (n.124-12766C=) | |
11 | g.2570669C>G | CA472037802 | KCNQ1 | c.258C>G (p.Val86=) c.478-12766C>G (n.478-12766C>G) c.519C>G (p.Val173=) c.138C>G (p.Val46=) c.124-12766C>G (n.124-12766C>G) | |
11 | g.2570669C>T | CA216309426 | KCNQ1 | c.258C>T (p.Val86=) c.478-12766C>T (n.478-12766C>T) c.519C>T (p.Val173=) c.138C>T (p.Val46=) c.124-12766C>T (n.124-12766C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570670C>A | CA379129871 | KCNQ1 | c.259C>A (p.Arg87Ser) c.478-12765C>A (n.478-12765C>A) c.520C>A (p.Arg174Ser) c.139C>A (p.Arg47Ser) c.124-12765C>A (n.124-12765C>A) | |
11 | g.2570670C= | CA1948239617 | KCNQ1 | c.259C= (p.Arg87=) c.478-12765C= (n.478-12765C=) c.520C= (p.Arg174=) c.139C= (p.Arg47=) c.124-12765C= (n.124-12765C=) | |
11 | g.2570670C>G | CA379129872 | KCNQ1 | c.259C>G (p.Arg87Gly) c.478-12765C>G (n.478-12765C>G) c.520C>G (p.Arg174Gly) c.139C>G (p.Arg47Gly) c.124-12765C>G (n.124-12765C>G) | |
11 | g.2570670C>T | CA007321 | KCNQ1 | c.259C>T (p.Arg87Cys) c.478-12765C>T (n.478-12765C>T) c.520C>T (p.Arg174Cys) c.139C>T (p.Arg47Cys) c.124-12765C>T (n.124-12765C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570671_2570672del | CA2839576013 | KCNQ1 | c.260_261del (p.Arg87ProfsTer?) c.478-12764_478-12763del (n.478-12764_478-12763del) c.521_522del (p.Arg174ProfsTer?) c.140_141del (p.Arg47ProfsTer?) c.124-12764_124-12763del (n.124-12764_124-12763del) | |
11 | g.2570671G>A | CA007329 | KCNQ1 | c.260G>A (p.Arg87His) c.478-12764G>A (n.478-12764G>A) c.521G>A (p.Arg174His) c.140G>A (p.Arg47His) c.124-12764G>A (n.124-12764G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570671G>C | CA007337 | KCNQ1 | c.260G>C (p.Arg87Pro) c.478-12764G>C (n.478-12764G>C) c.521G>C (p.Arg174Pro) c.140G>C (p.Arg47Pro) c.124-12764G>C (n.124-12764G>C) | ClinVar dbSNP |
11 | g.2570671G= | CA1948239628 | KCNQ1 | c.260G= (p.Arg87=) c.478-12764G= (n.478-12764G=) c.521G= (p.Arg174=) c.140G= (p.Arg47=) c.124-12764G= (n.124-12764G=) | |
11 | g.2570671G>T | CA007345 | KCNQ1 | c.260G>T (p.Arg87Leu) c.478-12764G>T (n.478-12764G>T) c.521G>T (p.Arg174Leu) c.140G>T (p.Arg47Leu) c.124-12764G>T (n.124-12764G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2570672C>A | CA472037805 | KCNQ1 | c.261C>A (p.Arg87=) c.478-12763C>A (n.478-12763C>A) c.522C>A (p.Arg174=) c.141C>A (p.Arg47=) c.124-12763C>A (n.124-12763C>A) | |
11 | g.2570672C>G | CA472037803 | KCNQ1 | c.261C>G (p.Arg87=) c.478-12763C>G (n.478-12763C>G) c.522C>G (p.Arg174=) c.141C>G (p.Arg47=) c.124-12763C>G (n.124-12763C>G) | |
11 | g.2570672C>T | CA472037804 | KCNQ1 | c.261C>T (p.Arg87=) c.478-12763C>T (n.478-12763C>T) c.522C>T (p.Arg174=) c.141C>T (p.Arg47=) c.124-12763C>T (n.124-12763C>T) | |
11 | g.2570673C>A | CA379129873 | KCNQ1 | c.262C>A (p.Leu88Ile) c.478-12762C>A (n.478-12762C>A) c.523C>A (p.Leu175Ile) c.142C>A (p.Leu48Ile) c.124-12762C>A (n.124-12762C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570673C= | CA1948239639 | KCNQ1 | c.262C= (p.Leu88=) c.478-12762C= (n.478-12762C=) c.523C= (p.Leu175=) c.142C= (p.Leu48=) c.124-12762C= (n.124-12762C=) | |
11 | g.2570673C>G | CA379129874 | KCNQ1 | c.262C>G (p.Leu88Val) c.478-12762C>G (n.478-12762C>G) c.523C>G (p.Leu175Val) c.142C>G (p.Leu48Val) c.124-12762C>G (n.124-12762C>G) | |
11 | g.2570673C>T | CA379129875 | KCNQ1 | c.262C>T (p.Leu88Phe) c.478-12762C>T (n.478-12762C>T) c.523C>T (p.Leu175Phe) c.142C>T (p.Leu48Phe) c.124-12762C>T (n.124-12762C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2570674T>A | CA379129876 | KCNQ1 | c.263T>A (p.Leu88His) c.478-12761T>A (n.478-12761T>A) c.524T>A (p.Leu175His) c.143T>A (p.Leu48His) c.124-12761T>A (n.124-12761T>A) | |
11 | g.2570674T>C | CA379129877 | KCNQ1 | c.263T>C (p.Leu88Pro) c.478-12761T>C (n.478-12761T>C) c.524T>C (p.Leu175Pro) c.143T>C (p.Leu48Pro) c.124-12761T>C (n.124-12761T>C) | ClinVar dbSNP |
11 | g.2570674T>G | CA379129878 | KCNQ1 | c.263T>G (p.Leu88Arg) c.478-12761T>G (n.478-12761T>G) c.524T>G (p.Leu175Arg) c.143T>G (p.Leu48Arg) c.124-12761T>G (n.124-12761T>G) | |
11 | g.2570674T= | CA1948239644 | KCNQ1 | c.263T= (p.Leu88=) c.478-12761T= (n.478-12761T=) c.524T= (p.Leu175=) c.143T= (p.Leu48=) c.124-12761T= (n.124-12761T=) | |
11 | g.2570675C>A | CA472037807 | KCNQ1 | c.264C>A (p.Leu88=) c.478-12760C>A (n.478-12760C>A) c.525C>A (p.Leu175=) c.144C>A (p.Leu48=) c.124-12760C>A (n.124-12760C>A) | |
11 | g.2570675C= | CA1948239648 | KCNQ1 | c.264C= (p.Leu88=) c.478-12760C= (n.478-12760C=) c.525C= (p.Leu175=) c.144C= (p.Leu48=) c.124-12760C= (n.124-12760C=) | |
11 | g.2570675C>G | CA472037808 | KCNQ1 | c.264C>G (p.Leu88=) c.478-12760C>G (n.478-12760C>G) c.525C>G (p.Leu175=) c.144C>G (p.Leu48=) c.124-12760C>G (n.124-12760C>G) | |
11 | g.2570675C>T | CA038218 | KCNQ1 | c.264C>T (p.Leu88=) c.478-12760C>T (n.478-12760C>T) c.525C>T (p.Leu175=) c.144C>T (p.Leu48=) c.124-12760C>T (n.124-12760C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570676T>A | CA379129879 | KCNQ1 | c.265T>A (p.Trp89Arg) c.478-12759T>A (n.478-12759T>A) c.526T>A (p.Trp176Arg) c.145T>A (p.Trp49Arg) c.124-12759T>A (n.124-12759T>A) | |
11 | g.2570676T>C | CA379129880 | KCNQ1 | c.265T>C (p.Trp89Arg) c.478-12759T>C (n.478-12759T>C) c.526T>C (p.Trp176Arg) c.145T>C (p.Trp49Arg) c.124-12759T>C (n.124-12759T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.2570676T>G | CA379129881 | KCNQ1 | c.265T>G (p.Trp89Gly) c.478-12759T>G (n.478-12759T>G) c.526T>G (p.Trp176Gly) c.145T>G (p.Trp49Gly) c.124-12759T>G (n.124-12759T>G) | |
11 | g.2570676T= | CA1948239653 | KCNQ1 | c.265T= (p.Trp89=) c.478-12759T= (n.478-12759T=) c.526T= (p.Trp176=) c.145T= (p.Trp49=) c.124-12759T= (n.124-12759T=) | |
11 | g.2570677G>A | CA379129882 | KCNQ1 | c.266G>A (p.Trp89Ter) c.478-12758G>A (n.478-12758G>A) c.527G>A (p.Trp176Ter) c.146G>A (p.Trp49Ter) c.124-12758G>A (n.124-12758G>A) | |
11 | g.2570677G>C | CA379129883 | KCNQ1 | c.266G>C (p.Trp89Ser) c.478-12758G>C (n.478-12758G>C) c.527G>C (p.Trp176Ser) c.146G>C (p.Trp49Ser) c.124-12758G>C (n.124-12758G>C) | ClinVar COSMIC COSMIC |
11 | g.2570677G>T | CA379129884 | KCNQ1 | c.266G>T (p.Trp89Leu) c.478-12758G>T (n.478-12758G>T) c.527G>T (p.Trp176Leu) c.146G>T (p.Trp49Leu) c.124-12758G>T (n.124-12758G>T) | gnomAD v4 |
11 | g.2570678G>A | CA10581157 | KCNQ1 | c.267G>A (p.Trp89Ter) c.478-12757G>A (n.478-12757G>A) c.528G>A (p.Trp176Ter) c.147G>A (p.Trp49Ter) c.124-12757G>A (n.124-12757G>A) | ClinVar dbSNP |
11 | g.2570678G>C | CA379129886 | KCNQ1 | c.267G>C (p.Trp89Cys) c.478-12757G>C (n.478-12757G>C) c.528G>C (p.Trp176Cys) c.147G>C (p.Trp49Cys) c.124-12757G>C (n.124-12757G>C) | |
11 | g.2570678G= | CA1948239659 | KCNQ1 | c.267G= (p.Trp89=) c.478-12757G= (n.478-12757G=) c.528G= (p.Trp176=) c.147G= (p.Trp49=) c.124-12757G= (n.124-12757G=) | |
11 | g.2570678G>T | CA379129885 | KCNQ1 | c.267G>T (p.Trp89Cys) c.478-12757G>T (n.478-12757G>T) c.528G>T (p.Trp176Cys) c.147G>T (p.Trp49Cys) c.124-12757G>T (n.124-12757G>T) | |
11 | g.2570679T>A | CA379129887 | KCNQ1 | c.268T>A (p.Ser90Thr) c.478-12756T>A (n.478-12756T>A) c.529T>A (p.Ser177Thr) c.148T>A (p.Ser50Thr) c.124-12756T>A (n.124-12756T>A) | |
11 | g.2570679T>C | CA379129888 | KCNQ1 | c.268T>C (p.Ser90Pro) c.478-12756T>C (n.478-12756T>C) c.529T>C (p.Ser177Pro) c.148T>C (p.Ser50Pro) c.124-12756T>C (n.124-12756T>C) | |
11 | g.2570679T>G | CA379129889 | KCNQ1 | c.268T>G (p.Ser90Ala) c.478-12756T>G (n.478-12756T>G) c.529T>G (p.Ser177Ala) c.148T>G (p.Ser50Ala) c.124-12756T>G (n.124-12756T>G) | gnomAD v4 |
11 | g.2570680C>A | CA379129890 | KCNQ1 | c.269C>A (p.Ser90Tyr) c.478-12755C>A (n.478-12755C>A) c.530C>A (p.Ser177Tyr) c.149C>A (p.Ser50Tyr) c.124-12755C>A (n.124-12755C>A) | gnomAD v4 COSMIC |
11 | g.2570680C= | CA1948239666 | KCNQ1 | c.269C= (p.Ser90=) c.478-12755C= (n.478-12755C=) c.530C= (p.Ser177=) c.149C= (p.Ser50=) c.124-12755C= (n.124-12755C=) | |
11 | g.2570680C>G | CA379129891 | KCNQ1 | c.269C>G (p.Ser90Cys) c.478-12755C>G (n.478-12755C>G) c.530C>G (p.Ser177Cys) c.149C>G (p.Ser50Cys) c.124-12755C>G (n.124-12755C>G) | dbSNP |
11 | g.2570680C>T | CA379129892 | KCNQ1 | c.269C>T (p.Ser90Phe) c.478-12755C>T (n.478-12755C>T) c.530C>T (p.Ser177Phe) c.149C>T (p.Ser50Phe) c.124-12755C>T (n.124-12755C>T) | |
11 | g.2570681C>A | CA472037817 | KCNQ1 | c.270C>A (p.Ser90=) c.478-12754C>A (n.478-12754C>A) c.531C>A (p.Ser177=) c.150C>A (p.Ser50=) c.124-12754C>A (n.124-12754C>A) | |
11 | g.2570681C= | CA1948239672 | KCNQ1 | c.270C= (p.Ser90=) c.478-12754C= (n.478-12754C=) c.531C= (p.Ser177=) c.150C= (p.Ser50=) c.124-12754C= (n.124-12754C=) | |
11 | g.2570681C>G | CA472037816 | KCNQ1 | c.270C>G (p.Ser90=) c.478-12754C>G (n.478-12754C>G) c.531C>G (p.Ser177=) c.150C>G (p.Ser50=) c.124-12754C>G (n.124-12754C>G) | ClinVar dbSNP |
11 | g.2570681C>T | CA038237 | KCNQ1 | c.270C>T (p.Ser90=) c.478-12754C>T (n.478-12754C>T) c.531C>T (p.Ser177=) c.150C>T (p.Ser50=) c.124-12754C>T (n.124-12754C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2570682G>A | CA007353 | KCNQ1 | c.271G>A (p.Ala91Thr) c.478-12753G>A (n.478-12753G>A) c.532G>A (p.Ala178Thr) c.151G>A (p.Ala51Thr) c.124-12753G>A (n.124-12753G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570682G>C | CA007364 | KCNQ1 | c.271G>C (p.Ala91Pro) c.478-12753G>C (n.478-12753G>C) c.532G>C (p.Ala178Pro) c.151G>C (p.Ala51Pro) c.124-12753G>C (n.124-12753G>C) | ClinVar dbSNP |
11 | g.2570682G= | CA1948239685 | KCNQ1 | c.271G= (p.Ala91=) c.478-12753G= (n.478-12753G=) c.532G= (p.Ala178=) c.151G= (p.Ala51=) c.124-12753G= (n.124-12753G=) | |
11 | g.2570682G>T | CA379129893 | KCNQ1 | c.271G>T (p.Ala91Ser) c.478-12753G>T (n.478-12753G>T) c.532G>T (p.Ala178Ser) c.151G>T (p.Ala51Ser) c.124-12753G>T (n.124-12753G>T) | gnomAD v4 |
11 | g.2570682_2570683delinsGC | CA1948239682 | KCNQ1 | c.271_272delinsGC (p.Ala91=) c.478-12753_478-12752delinsGC (n.478-12753_478-12752delinsGC) c.532_533delinsGC (p.Ala178=) c.151_152delinsGC (p.Ala51=) c.124-12753_124-12752delinsGC (n.124-12753_124-12752delinsGC) | |
11 | g.2570683C>A | CA379129894 | KCNQ1 | c.272C>A (p.Ala91Asp) c.478-12752C>A (n.478-12752C>A) c.533C>A (p.Ala178Asp) c.152C>A (p.Ala51Asp) c.124-12752C>A (n.124-12752C>A) | |
11 | g.2570683C>G | CA379129895 | KCNQ1 | c.272C>G (p.Ala91Gly) c.478-12752C>G (n.478-12752C>G) c.533C>G (p.Ala178Gly) c.152C>G (p.Ala51Gly) c.124-12752C>G (n.124-12752C>G) | |
11 | g.2570683C>T | CA379129896 | KCNQ1 | c.272C>T (p.Ala91Val) c.478-12752C>T (n.478-12752C>T) c.533C>T (p.Ala178Val) c.152C>T (p.Ala51Val) c.124-12752C>T (n.124-12752C>T) | |
11 | g.2570683delinsGG | CA252606 | KCNQ1 | c.272delinsGG (p.Ala91GlyfsTer?) c.478-12752delinsGG (n.478-12752delinsGG) c.533delinsGG (p.Ala178GlyfsTer?) c.152delinsGG (p.Ala51GlyfsTer?) c.124-12752delinsGG (n.124-12752delinsGG) | ClinVar dbSNP |
11 | g.2570684C>A | CA472037823 | KCNQ1 | c.273C>A (p.Ala91=) c.478-12751C>A (n.478-12751C>A) c.534C>A (p.Ala178=) c.153C>A (p.Ala51=) c.124-12751C>A (n.124-12751C>A) | |
11 | g.2570684C= | CA1948239696 | KCNQ1 | c.273C= (p.Ala91=) c.478-12751C= (n.478-12751C=) c.534C= (p.Ala178=) c.153C= (p.Ala51=) c.124-12751C= (n.124-12751C=) | |
11 | g.2570684C>G | CA472037824 | KCNQ1 | c.273C>G (p.Ala91=) c.478-12751C>G (n.478-12751C>G) c.534C>G (p.Ala178=) c.153C>G (p.Ala51=) c.124-12751C>G (n.124-12751C>G) | |
11 | g.2570684C>T | CA472037825 | KCNQ1 | c.273C>T (p.Ala91=) c.478-12751C>T (n.478-12751C>T) c.534C>T (p.Ala178=) c.153C>T (p.Ala51=) c.124-12751C>T (n.124-12751C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.2570685G>A | CA007379 | KCNQ1 | c.274G>A (p.Gly92Ser) c.478-12750G>A (n.478-12750G>A) c.535G>A (p.Gly179Ser) c.154G>A (p.Gly52Ser) c.124-12750G>A (n.124-12750G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570685G>C | CA379129898 | KCNQ1 | c.274G>C (p.Gly92Arg) c.478-12750G>C (n.478-12750G>C) c.535G>C (p.Gly179Arg) c.154G>C (p.Gly52Arg) c.124-12750G>C (n.124-12750G>C) | ClinVar |
11 | g.2570685G= | CA1948239705 | KCNQ1 | c.274G= (p.Gly92=) c.478-12750G= (n.478-12750G=) c.535G= (p.Gly179=) c.154G= (p.Gly52=) c.124-12750G= (n.124-12750G=) | |
11 | g.2570685G>T | CA379129897 | KCNQ1 | c.274G>T (p.Gly92Cys) c.478-12750G>T (n.478-12750G>T) c.535G>T (p.Gly179Cys) c.154G>T (p.Gly52Cys) c.124-12750G>T (n.124-12750G>T) | |
11 | g.2570686G>A | CA379129899 | KCNQ1 | c.275G>A (p.Gly92Asp) c.478-12749G>A (n.478-12749G>A) c.536G>A (p.Gly179Asp) c.155G>A (p.Gly52Asp) c.124-12749G>A (n.124-12749G>A) | |
11 | g.2570686G>C | CA038267 | KCNQ1 | c.275G>C (p.Gly92Ala) c.478-12749G>C (n.478-12749G>C) c.536G>C (p.Gly179Ala) c.155G>C (p.Gly52Ala) c.124-12749G>C (n.124-12749G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570686G= | CA1948239714 | KCNQ1 | c.275G= (p.Gly92=) c.478-12749G= (n.478-12749G=) c.536G= (p.Gly179=) c.155G= (p.Gly52=) c.124-12749G= (n.124-12749G=) | |
11 | g.2570686G>T | CA379129900 | KCNQ1 | c.275G>T (p.Gly92Val) c.478-12749G>T (n.478-12749G>T) c.536G>T (p.Gly179Val) c.155G>T (p.Gly52Val) c.124-12749G>T (n.124-12749G>T) | dbSNP gnomAD v4 |
11 | g.2570687C>A | CA472037826 | KCNQ1 | c.276C>A (p.Gly92=) c.478-12748C>A (n.478-12748C>A) c.537C>A (p.Gly179=) c.156C>A (p.Gly52=) c.124-12748C>A (n.124-12748C>A) | |
11 | g.2570687C>G | CA472037828 | KCNQ1 | c.276C>G (p.Gly92=) c.478-12748C>G (n.478-12748C>G) c.537C>G (p.Gly179=) c.156C>G (p.Gly52=) c.124-12748C>G (n.124-12748C>G) | |
11 | g.2570687C>T | CA472037827 | KCNQ1 | c.276C>T (p.Gly92=) c.478-12748C>T (n.478-12748C>T) c.537C>T (p.Gly179=) c.156C>T (p.Gly52=) c.124-12748C>T (n.124-12748C>T) | |
11 | g.2570688T>A | CA379129901 | KCNQ1 | c.277T>A (p.Cys93Ser) c.478-12747T>A (n.478-12747T>A) c.538T>A (p.Cys180Ser) c.157T>A (p.Cys53Ser) c.124-12747T>A (n.124-12747T>A) | |
11 | g.2570688T>C | CA379129902 | KCNQ1 | c.277T>C (p.Cys93Arg) c.478-12747T>C (n.478-12747T>C) c.538T>C (p.Cys180Arg) c.157T>C (p.Cys53Arg) c.124-12747T>C (n.124-12747T>C) | |
11 | g.2570688T>G | CA379129903 | KCNQ1 | c.277T>G (p.Cys93Gly) c.478-12747T>G (n.478-12747T>G) c.538T>G (p.Cys180Gly) c.157T>G (p.Cys53Gly) c.124-12747T>G (n.124-12747T>G) | |
11 | g.2570689G>A | CA379129906 | KCNQ1 | c.278G>A (p.Cys93Tyr) c.478-12746G>A (n.478-12746G>A) c.539G>A (p.Cys180Tyr) c.158G>A (p.Cys53Tyr) c.124-12746G>A (n.124-12746G>A) | |
11 | g.2570689G>C | CA379129904 | KCNQ1 | c.278G>C (p.Cys93Ser) c.478-12746G>C (n.478-12746G>C) c.539G>C (p.Cys180Ser) c.158G>C (p.Cys53Ser) c.124-12746G>C (n.124-12746G>C) | |
11 | g.2570689G>T | CA379129905 | KCNQ1 | c.278G>T (p.Cys93Phe) c.478-12746G>T (n.478-12746G>T) c.539G>T (p.Cys180Phe) c.158G>T (p.Cys53Phe) c.124-12746G>T (n.124-12746G>T) | |
11 | g.2570690C>A | CA379129907 | KCNQ1 | c.279C>A (p.Cys93Ter) c.478-12745C>A (n.478-12745C>A) c.540C>A (p.Cys180Ter) c.159C>A (p.Cys53Ter) c.124-12745C>A (n.124-12745C>A) | |
11 | g.2570690C= | CA1948239720 | KCNQ1 | c.279C= (p.Cys93=) c.478-12745C= (n.478-12745C=) c.540C= (p.Cys180=) c.159C= (p.Cys53=) c.124-12745C= (n.124-12745C=) | |
11 | g.2570690C>G | CA379129908 | KCNQ1 | c.279C>G (p.Cys93Trp) c.478-12745C>G (n.478-12745C>G) c.540C>G (p.Cys180Trp) c.159C>G (p.Cys53Trp) c.124-12745C>G (n.124-12745C>G) | |
11 | g.2570690C>T | CA472037832 | KCNQ1 | c.279C>T (p.Cys93=) c.478-12745C>T (n.478-12745C>T) c.540C>T (p.Cys180=) c.159C>T (p.Cys53=) c.124-12745C>T (n.124-12745C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570691C>A | CA379129909 | KCNQ1 | c.280C>A (p.Arg94Ser) c.478-12744C>A (n.478-12744C>A) c.541C>A (p.Arg181Ser) c.160C>A (p.Arg54Ser) c.124-12744C>A (n.124-12744C>A) | |
11 | g.2570691C= | CA1948239729 | KCNQ1 | c.280C= (p.Arg94=) c.478-12744C= (n.478-12744C=) c.541C= (p.Arg181=) c.160C= (p.Arg54=) c.124-12744C= (n.124-12744C=) | |
11 | g.2570691C>G | CA379129910 | KCNQ1 | c.280C>G (p.Arg94Gly) c.478-12744C>G (n.478-12744C>G) c.541C>G (p.Arg181Gly) c.160C>G (p.Arg54Gly) c.124-12744C>G (n.124-12744C>G) | |
11 | g.2570691C>T | CA007388 | KCNQ1 | c.280C>T (p.Arg94Cys) c.478-12744C>T (n.478-12744C>T) c.541C>T (p.Arg181Cys) c.160C>T (p.Arg54Cys) c.124-12744C>T (n.124-12744C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570692G>A | CA379129911 | KCNQ1 | c.281G>A (p.Arg94His) c.478-12743G>A (n.478-12743G>A) c.542G>A (p.Arg181His) c.161G>A (p.Arg54His) c.124-12743G>A (n.124-12743G>A) | ClinVar gnomAD v4 |
11 | g.2570692G>C | CA379129913 | KCNQ1 | c.281G>C (p.Arg94Pro) c.478-12743G>C (n.478-12743G>C) c.542G>C (p.Arg181Pro) c.161G>C (p.Arg54Pro) c.124-12743G>C (n.124-12743G>C) | dbSNP |
11 | g.2570692G= | CA1948239733 | KCNQ1 | c.281G= (p.Arg94=) c.478-12743G= (n.478-12743G=) c.542G= (p.Arg181=) c.161G= (p.Arg54=) c.124-12743G= (n.124-12743G=) | |
11 | g.2570692G>T | CA379129912 | KCNQ1 | c.281G>T (p.Arg94Leu) c.478-12743G>T (n.478-12743G>T) c.542G>T (p.Arg181Leu) c.161G>T (p.Arg54Leu) c.124-12743G>T (n.124-12743G>T) | |
11 | g.2570693C>A | CA472037836 | KCNQ1 | c.282C>A (p.Arg94=) c.478-12742C>A (n.478-12742C>A) c.543C>A (p.Arg181=) c.162C>A (p.Arg54=) c.124-12742C>A (n.124-12742C>A) | |
11 | g.2570693C= | CA1948239738 | KCNQ1 | c.282C= (p.Arg94=) c.478-12742C= (n.478-12742C=) c.543C= (p.Arg181=) c.162C= (p.Arg54=) c.124-12742C= (n.124-12742C=) | |
11 | g.2570693C>G | CA472037837 | KCNQ1 | c.282C>G (p.Arg94=) c.478-12742C>G (n.478-12742C>G) c.543C>G (p.Arg181=) c.162C>G (p.Arg54=) c.124-12742C>G (n.124-12742C>G) | |
11 | g.2570693C>T | CA472037838 | KCNQ1 | c.282C>T (p.Arg94=) c.478-12742C>T (n.478-12742C>T) c.543C>T (p.Arg181=) c.162C>T (p.Arg54=) c.124-12742C>T (n.124-12742C>T) | dbSNP |
11 | g.2570694A>C | CA379129914 | KCNQ1 | c.283A>C (p.Ser95Arg) c.478-12741A>C (n.478-12741A>C) c.544A>C (p.Ser182Arg) c.163A>C (p.Ser55Arg) c.124-12741A>C (n.124-12741A>C) | |
11 | g.2570694A>G | CA379129915 | KCNQ1 | c.283A>G (p.Ser95Gly) c.478-12741A>G (n.478-12741A>G) c.544A>G (p.Ser182Gly) c.163A>G (p.Ser55Gly) c.124-12741A>G (n.124-12741A>G) | |
11 | g.2570694A>T | CA379129916 | KCNQ1 | c.283A>T (p.Ser95Cys) c.478-12741A>T (n.478-12741A>T) c.544A>T (p.Ser182Cys) c.163A>T (p.Ser55Cys) c.124-12741A>T (n.124-12741A>T) | |
11 | g.2570695G>A | CA379129917 | KCNQ1 | c.284G>A (p.Ser95Asn) c.478-12740G>A (n.478-12740G>A) c.545G>A (p.Ser182Asn) c.164G>A (p.Ser55Asn) c.124-12740G>A (n.124-12740G>A) | |
11 | g.2570695G>C | CA379129918 | KCNQ1 | c.284G>C (p.Ser95Thr) c.478-12740G>C (n.478-12740G>C) c.545G>C (p.Ser182Thr) c.164G>C (p.Ser55Thr) c.124-12740G>C (n.124-12740G>C) | |
11 | g.2570695G>T | CA379129919 | KCNQ1 | c.284G>T (p.Ser95Ile) c.478-12740G>T (n.478-12740G>T) c.545G>T (p.Ser182Ile) c.164G>T (p.Ser55Ile) c.124-12740G>T (n.124-12740G>T) | |
11 | g.2570696C>A | CA379129920 | KCNQ1 | c.285C>A (p.Ser95Arg) c.478-12739C>A (n.478-12739C>A) c.546C>A (p.Ser182Arg) c.165C>A (p.Ser55Arg) c.124-12739C>A (n.124-12739C>A) | dbSNP gnomAD v4 |
11 | g.2570696C>G | CA379129921 | KCNQ1 | c.285C>G (p.Ser95Arg) c.478-12739C>G (n.478-12739C>G) c.546C>G (p.Ser182Arg) c.165C>G (p.Ser55Arg) c.124-12739C>G (n.124-12739C>G) | |
11 | g.2570696C>T | CA472037842 | KCNQ1 | c.285C>T (p.Ser95=) c.478-12739C>T (n.478-12739C>T) c.546C>T (p.Ser182=) c.165C>T (p.Ser55=) c.124-12739C>T (n.124-12739C>T) | ClinVar dbSNP |
11 | g.2570697A>C | CA379129922 | KCNQ1 | c.286A>C (p.Lys96Gln) c.478-12738A>C (n.478-12738A>C) c.547A>C (p.Lys183Gln) c.166A>C (p.Lys56Gln) c.124-12738A>C (n.124-12738A>C) | |
11 | g.2570697A>G | CA379129923 | KCNQ1 | c.286A>G (p.Lys96Glu) c.478-12738A>G (n.478-12738A>G) c.547A>G (p.Lys183Glu) c.166A>G (p.Lys56Glu) c.124-12738A>G (n.124-12738A>G) | |
11 | g.2570697A>T | CA379129924 | KCNQ1 | c.286A>T (p.Lys96Ter) c.478-12738A>T (n.478-12738A>T) c.547A>T (p.Lys183Ter) c.166A>T (p.Lys56Ter) c.124-12738A>T (n.124-12738A>T) | |
11 | g.2570698A= | CA1948239742 | KCNQ1 | c.287A= (p.Lys96=) c.478-12737A= (n.478-12737A=) c.548A= (p.Lys183=) c.167A= (p.Lys56=) c.124-12737A= (n.124-12737A=) | |
11 | g.2570698A>C | CA379129925 | KCNQ1 | c.287A>C (p.Lys96Thr) c.478-12737A>C (n.478-12737A>C) c.548A>C (p.Lys183Thr) c.167A>C (p.Lys56Thr) c.124-12737A>C (n.124-12737A>C) | |
11 | g.2570698A>G | CA007396 | KCNQ1 | c.287A>G (p.Lys96Arg) c.478-12737A>G (n.478-12737A>G) c.548A>G (p.Lys183Arg) c.167A>G (p.Lys56Arg) c.124-12737A>G (n.124-12737A>G) | ClinVar dbSNP |
11 | g.2570698A>T | CA379129926 | KCNQ1 | c.287A>T (p.Lys96Met) c.478-12737A>T (n.478-12737A>T) c.548A>T (p.Lys183Met) c.167A>T (p.Lys56Met) c.124-12737A>T (n.124-12737A>T) | |
11 | g.2570699G>A | CA472037845 | KCNQ1 | c.288G>A (p.Lys96=) c.478-12736G>A (n.478-12736G>A) c.549G>A (p.Lys183=) c.168G>A (p.Lys56=) c.124-12736G>A (n.124-12736G>A) | gnomAD v4 |
11 | g.2570699G>C | CA379129927 | KCNQ1 | c.288G>C (p.Lys96Asn) c.478-12736G>C (n.478-12736G>C) c.549G>C (p.Lys183Asn) c.168G>C (p.Lys56Asn) c.124-12736G>C (n.124-12736G>C) | |
11 | g.2570699G>T | CA379129928 | KCNQ1 | c.288G>T (p.Lys96Asn) c.478-12736G>T (n.478-12736G>T) c.549G>T (p.Lys183Asn) c.168G>T (p.Lys56Asn) c.124-12736G>T (n.124-12736G>T) | gnomAD v4 |
11 | g.2570700T>A | CA379129929 | KCNQ1 | c.289T>A (p.Tyr97Asn) c.478-12735T>A (n.478-12735T>A) c.550T>A (p.Tyr184Asn) c.169T>A (p.Tyr57Asn) c.124-12735T>A (n.124-12735T>A) | |
11 | g.2570700T>C | CA007405 | KCNQ1 | c.289T>C (p.Tyr97His) c.478-12735T>C (n.478-12735T>C) c.550T>C (p.Tyr184His) c.169T>C (p.Tyr57His) c.124-12735T>C (n.124-12735T>C) | ClinVar dbSNP |
11 | g.2570700T>G | CA007413 | KCNQ1 | c.289T>G (p.Tyr97Asp) c.478-12735T>G (n.478-12735T>G) c.550T>G (p.Tyr184Asp) c.169T>G (p.Tyr57Asp) c.124-12735T>G (n.124-12735T>G) | ClinVar dbSNP |
11 | g.2570700T= | CA1948239750 | KCNQ1 | c.289T= (p.Tyr97=) c.478-12735T= (n.478-12735T=) c.550T= (p.Tyr184=) c.169T= (p.Tyr57=) c.124-12735T= (n.124-12735T=) | |
11 | g.2570701A= | CA1948239762 | KCNQ1 | c.290A= (p.Tyr97=) c.478-12734A= (n.478-12734A=) c.551A= (p.Tyr184=) c.170A= (p.Tyr57=) c.124-12734A= (n.124-12734A=) | |
11 | g.2570701A>C | CA007421 | KCNQ1 | c.290A>C (p.Tyr97Ser) c.478-12734A>C (n.478-12734A>C) c.551A>C (p.Tyr184Ser) c.170A>C (p.Tyr57Ser) c.124-12734A>C (n.124-12734A>C) | ClinVar dbSNP |
11 | g.2570701A>G | CA379129930 | KCNQ1 | c.290A>G (p.Tyr97Cys) c.478-12734A>G (n.478-12734A>G) c.551A>G (p.Tyr184Cys) c.170A>G (p.Tyr57Cys) c.124-12734A>G (n.124-12734A>G) | |
11 | g.2570701A>T | CA379129931 | KCNQ1 | c.290A>T (p.Tyr97Phe) c.478-12734A>T (n.478-12734A>T) c.551A>T (p.Tyr184Phe) c.170A>T (p.Tyr57Phe) c.124-12734A>T (n.124-12734A>T) | |
11 | g.2570701dup | CA305943 | KCNQ1 | c.290dup (p.Tyr97Ter) c.478-12734dup (n.478-12734dup) c.551dup (p.Tyr184Ter) c.170dup (p.Tyr57Ter) c.124-12734dup (n.124-12734dup) | ClinVar dbSNP |
11 | g.2570701_2570702delinsAC | CA1948239761 | KCNQ1 | c.290_291delinsAC (p.Tyr97=) c.478-12734_478-12733delinsAC (n.478-12734_478-12733delinsAC) c.551_552delinsAC (p.Tyr184=) c.170_171delinsAC (p.Tyr57=) c.124-12734_124-12733delinsAC (n.124-12734_124-12733delinsAC) | |
11 | g.2570702del | CA1139661773 | KCNQ1 | c.291del (p.Tyr97Ter) c.478-12733del (n.478-12733del) c.552del (p.Tyr184Ter) c.171del (p.Tyr57Ter) c.124-12733del (n.124-12733del) | ClinVar dbSNP |
11 | g.2570702C>A | CA379129932 | KCNQ1 | c.291C>A (p.Tyr97Ter) c.478-12733C>A (n.478-12733C>A) c.552C>A (p.Tyr184Ter) c.171C>A (p.Tyr57Ter) c.124-12733C>A (n.124-12733C>A) | |
11 | g.2570702C= | CA1948239765 | KCNQ1 | c.291C= (p.Tyr97=) c.478-12733C= (n.478-12733C=) c.552C= (p.Tyr184=) c.171C= (p.Tyr57=) c.124-12733C= (n.124-12733C=) | |
11 | g.2570702C>G | CA379129933 | KCNQ1 | c.291C>G (p.Tyr97Ter) c.478-12733C>G (n.478-12733C>G) c.552C>G (p.Tyr184Ter) c.171C>G (p.Tyr57Ter) c.124-12733C>G (n.124-12733C>G) | |
11 | g.2570702C>T | CA038315 | KCNQ1 | c.291C>T (p.Tyr97=) c.478-12733C>T (n.478-12733C>T) c.552C>T (p.Tyr184=) c.171C>T (p.Tyr57=) c.124-12733C>T (n.124-12733C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570704_2570725del | CA2580082606 | KCNQ1 | c.293_314del (p.Val98AlafsTer?) c.478-12731_478-12710del (n.478-12731_478-12710del) c.554_575del (p.Val185AlafsTer?) c.173_194del (p.Val58AlafsTer?) c.124-12731_124-12710del (n.124-12731_124-12710del) | ClinVar |
11 | g.2570703G>A | CA038335 | KCNQ1 | c.292G>A (p.Val98Met) c.478-12732G>A (n.478-12732G>A) c.553G>A (p.Val185Met) c.172G>A (p.Val58Met) c.124-12732G>A (n.124-12732G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2570703G>C | CA038359 | KCNQ1 | c.292G>C (p.Val98Leu) c.478-12732G>C (n.478-12732G>C) c.553G>C (p.Val185Leu) c.172G>C (p.Val58Leu) c.124-12732G>C (n.124-12732G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570703G= | CA1948239766 | KCNQ1 | c.292G= (p.Val98=) c.478-12732G= (n.478-12732G=) c.553G= (p.Val185=) c.172G= (p.Val58=) c.124-12732G= (n.124-12732G=) | |
11 | g.2570703G>T | CA379129934 | KCNQ1 | c.292G>T (p.Val98Leu) c.478-12732G>T (n.478-12732G>T) c.553G>T (p.Val185Leu) c.172G>T (p.Val58Leu) c.124-12732G>T (n.124-12732G>T) | |
11 | g.2570704T>A | CA379129935 | KCNQ1 | c.293T>A (p.Val98Glu) c.478-12731T>A (n.478-12731T>A) c.554T>A (p.Val185Glu) c.173T>A (p.Val58Glu) c.124-12731T>A (n.124-12731T>A) | |
11 | g.2570704T>C | CA379129937 | KCNQ1 | c.293T>C (p.Val98Ala) c.478-12731T>C (n.478-12731T>C) c.554T>C (p.Val185Ala) c.173T>C (p.Val58Ala) c.124-12731T>C (n.124-12731T>C) | |
11 | g.2570704T>G | CA379129936 | KCNQ1 | c.293T>G (p.Val98Gly) c.478-12731T>G (n.478-12731T>G) c.554T>G (p.Val185Gly) c.173T>G (p.Val58Gly) c.124-12731T>G (n.124-12731T>G) | |
11 | g.2570705_2570710del | CA2695213145 | KCNQ1 | c.294_299del (p.Gly99_Leu100del) c.478-12730_478-12725del (n.478-12730_478-12725del) c.555_560del (p.Gly186_Leu187del) c.174_179del (p.Gly59_Leu60del) c.124-12730_124-12725del (n.124-12730_124-12725del) | |
11 | g.2570705G>A | CA472037855 | KCNQ1 | c.294G>A (p.Val98=) c.478-12730G>A (n.478-12730G>A) c.555G>A (p.Val185=) c.174G>A (p.Val58=) c.124-12730G>A (n.124-12730G>A) | ClinVar |
11 | g.2570705G>C | CA472037856 | KCNQ1 | c.294G>C (p.Val98=) c.478-12730G>C (n.478-12730G>C) c.555G>C (p.Val185=) c.174G>C (p.Val58=) c.124-12730G>C (n.124-12730G>C) | |
11 | g.2570705G>T | CA472037857 | KCNQ1 | c.294G>T (p.Val98=) c.478-12730G>T (n.478-12730G>T) c.555G>T (p.Val185=) c.174G>T (p.Val58=) c.124-12730G>T (n.124-12730G>T) | gnomAD v4 |
11 | g.2570707del | CA2840405391 | KCNQ1 | c.296del (p.Gly99AlafsTer?) c.478-12728del (n.478-12728del) c.557del (p.Gly186AlafsTer?) c.176del (p.Gly59AlafsTer?) c.124-12728del (n.124-12728del) | |
11 | g.2570706G>A | CA007432 | KCNQ1 | c.295G>A (p.Gly99Ser) c.478-12729G>A (n.478-12729G>A) c.556G>A (p.Gly186Ser) c.175G>A (p.Gly59Ser) c.124-12729G>A (n.124-12729G>A) | ClinVar dbSNP |
11 | g.2570706G>C | CA007440 | KCNQ1 | c.295G>C (p.Gly99Arg) c.478-12729G>C (n.478-12729G>C) c.556G>C (p.Gly186Arg) c.175G>C (p.Gly59Arg) c.124-12729G>C (n.124-12729G>C) | ClinVar dbSNP |
11 | g.2570706G= | CA1948239767 | KCNQ1 | c.295G= (p.Gly99=) c.478-12729G= (n.478-12729G=) c.556G= (p.Gly186=) c.175G= (p.Gly59=) c.124-12729G= (n.124-12729G=) | |
11 | g.2570706G>T | CA379129938 | KCNQ1 | c.295G>T (p.Gly99Cys) c.478-12729G>T (n.478-12729G>T) c.556G>T (p.Gly186Cys) c.175G>T (p.Gly59Cys) c.124-12729G>T (n.124-12729G>T) | ClinVar dbSNP |
11 | g.2570706_2570711del | CA2695213146 | KCNQ1 | c.295_300del (p.Gly99_Leu100del) c.478-12729_478-12724del (n.478-12729_478-12724del) c.556_561del (p.Gly186_Leu187del) c.175_180del (p.Gly59_Leu60del) c.124-12729_124-12724del (n.124-12729_124-12724del) | |
11 | g.2570707G>A | CA10575751 | KCNQ1 | c.296G>A (p.Gly99Asp) c.478-12728G>A (n.478-12728G>A) c.557G>A (p.Gly186Asp) c.176G>A (p.Gly59Asp) c.124-12728G>A (n.124-12728G>A) | ClinVar dbSNP |
11 | g.2570707G>C | CA379129939 | KCNQ1 | c.296G>C (p.Gly99Ala) c.478-12728G>C (n.478-12728G>C) c.557G>C (p.Gly186Ala) c.176G>C (p.Gly59Ala) c.124-12728G>C (n.124-12728G>C) | ClinVar dbSNP gnomAD v4 |
11 | g.2570707G= | CA1948239776 | KCNQ1 | c.296G= (p.Gly99=) c.478-12728G= (n.478-12728G=) c.557G= (p.Gly186=) c.176G= (p.Gly59=) c.124-12728G= (n.124-12728G=) | |
11 | g.2570707G>T | CA007449 | KCNQ1 | c.296G>T (p.Gly99Val) c.478-12728G>T (n.478-12728G>T) c.557G>T (p.Gly186Val) c.176G>T (p.Gly59Val) c.124-12728G>T (n.124-12728G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2570708C>A | CA038388 | KCNQ1 | c.297C>A (p.Gly99=) c.478-12727C>A (n.478-12727C>A) c.558C>A (p.Gly186=) c.177C>A (p.Gly59=) c.124-12727C>A (n.124-12727C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570708C= | CA1948239783 | KCNQ1 | c.297C= (p.Gly99=) c.478-12727C= (n.478-12727C=) c.558C= (p.Gly186=) c.177C= (p.Gly59=) c.124-12727C= (n.124-12727C=) | |
11 | g.2570708C>G | CA472037858 | KCNQ1 | c.297C>G (p.Gly99=) c.478-12727C>G (n.478-12727C>G) c.558C>G (p.Gly186=) c.177C>G (p.Gly59=) c.124-12727C>G (n.124-12727C>G) | |
11 | g.2570708C>T | CA472037859 | KCNQ1 | c.297C>T (p.Gly99=) c.478-12727C>T (n.478-12727C>T) c.558C>T (p.Gly186=) c.177C>T (p.Gly59=) c.124-12727C>T (n.124-12727C>T) | |
11 | g.2570709C>A | CA379129940 | KCNQ1 | c.298C>A (p.Leu100Ile) c.478-12726C>A (n.478-12726C>A) c.559C>A (p.Leu187Ile) c.178C>A (p.Leu60Ile) c.124-12726C>A (n.124-12726C>A) | |
11 | g.2570709C= | CA1948239787 | KCNQ1 | c.298C= (p.Leu100=) c.478-12726C= (n.478-12726C=) c.559C= (p.Leu187=) c.178C= (p.Leu60=) c.124-12726C= (n.124-12726C=) | |
11 | g.2570709C>G | CA379129941 | KCNQ1 | c.298C>G (p.Leu100Val) c.478-12726C>G (n.478-12726C>G) c.559C>G (p.Leu187Val) c.178C>G (p.Leu60Val) c.124-12726C>G (n.124-12726C>G) | |
11 | g.2570709C>T | CA379129942 | KCNQ1 | c.298C>T (p.Leu100Phe) c.478-12726C>T (n.478-12726C>T) c.559C>T (p.Leu187Phe) c.178C>T (p.Leu60Phe) c.124-12726C>T (n.124-12726C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570710T>A | CA379129944 | KCNQ1 | c.299T>A (p.Leu100His) c.478-12725T>A (n.478-12725T>A) c.560T>A (p.Leu187His) c.179T>A (p.Leu60His) c.124-12725T>A (n.124-12725T>A) | |
11 | g.2570710T>C | CA007460 | KCNQ1 | c.299T>C (p.Leu100Pro) c.478-12725T>C (n.478-12725T>C) c.560T>C (p.Leu187Pro) c.179T>C (p.Leu60Pro) c.124-12725T>C (n.124-12725T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570710T>G | CA379129943 | KCNQ1 | c.299T>G (p.Leu100Arg) c.478-12725T>G (n.478-12725T>G) c.560T>G (p.Leu187Arg) c.179T>G (p.Leu60Arg) c.124-12725T>G (n.124-12725T>G) | ClinVar dbSNP gnomAD v4 |
11 | g.2570710T= | CA1948239792 | KCNQ1 | c.299T= (p.Leu100=) c.478-12725T= (n.478-12725T=) c.560T= (p.Leu187=) c.179T= (p.Leu60=) c.124-12725T= (n.124-12725T=) | |
11 | g.2570711C>A | CA472037862 | KCNQ1 | c.300C>A (p.Leu100=) c.478-12724C>A (n.478-12724C>A) c.561C>A (p.Leu187=) c.180C>A (p.Leu60=) c.124-12724C>A (n.124-12724C>A) | |
11 | g.2570711C>G | CA472037863 | KCNQ1 | c.300C>G (p.Leu100=) c.478-12724C>G (n.478-12724C>G) c.561C>G (p.Leu187=) c.180C>G (p.Leu60=) c.124-12724C>G (n.124-12724C>G) | |
11 | g.2570711C>T | CA472037864 | KCNQ1 | c.300C>T (p.Leu100=) c.478-12724C>T (n.478-12724C>T) c.561C>T (p.Leu187=) c.180C>T (p.Leu60=) c.124-12724C>T (n.124-12724C>T) | |
11 | g.2570711_2570712delinsCT | CA1948239796 | KCNQ1 | c.300_301delinsCT (p.Leu100=) c.478-12724_478-12723delinsCT (n.478-12724_478-12723delinsCT) c.561_562delinsCT (p.Leu187=) c.180_181delinsCT (p.Leu60=) c.124-12724_124-12723delinsCT (n.124-12724_124-12723delinsCT) | |
11 | g.2570712del | CA007472 | KCNQ1 | c.301del (p.Trp101GlyfsTer?) c.478-12723del (n.478-12723del) c.562del (p.Trp188GlyfsTer?) c.181del (p.Trp61GlyfsTer?) c.124-12723del (n.124-12723del) | ClinVar dbSNP |
11 | g.2570712T>A | CA379129945 | KCNQ1 | c.301T>A (p.Trp101Arg) c.478-12723T>A (n.478-12723T>A) c.562T>A (p.Trp188Arg) c.181T>A (p.Trp61Arg) c.124-12723T>A (n.124-12723T>A) | |
11 | g.2570712T>C | CA379129946 | KCNQ1 | c.301T>C (p.Trp101Arg) c.478-12723T>C (n.478-12723T>C) c.562T>C (p.Trp188Arg) c.181T>C (p.Trp61Arg) c.124-12723T>C (n.124-12723T>C) | ClinVar gnomAD v4 |
11 | g.2570712T>G | CA379129947 | KCNQ1 | c.301T>G (p.Trp101Gly) c.478-12723T>G (n.478-12723T>G) c.562T>G (p.Trp188Gly) c.181T>G (p.Trp61Gly) c.124-12723T>G (n.124-12723T>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570712T= | CA1948239800 | KCNQ1 | c.301T= (p.Trp101=) c.478-12723T= (n.478-12723T=) c.562T= (p.Trp188=) c.181T= (p.Trp61=) c.124-12723T= (n.124-12723T=) | |
11 | g.2570712_2570714delinsTGG | CA1948239798 | KCNQ1 | c.301_303delinsTGG (p.Trp101=) c.478-12723_478-12721delinsTGG (n.478-12723_478-12721delinsTGG) c.562_564delinsTGG (p.Trp188=) c.181_183delinsTGG (p.Trp61=) c.124-12723_124-12721delinsTGG (n.124-12723_124-12721delinsTGG) | |
11 | g.2570713G>A | CA379129948 | KCNQ1 | c.302G>A (p.Trp101Ter) c.478-12722G>A (n.478-12722G>A) c.563G>A (p.Trp188Ter) c.182G>A (p.Trp61Ter) c.124-12722G>A (n.124-12722G>A) | dbSNP |
11 | g.2570713G>C | CA379129949 | KCNQ1 | c.302G>C (p.Trp101Ser) c.478-12722G>C (n.478-12722G>C) c.563G>C (p.Trp188Ser) c.182G>C (p.Trp61Ser) c.124-12722G>C (n.124-12722G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570713G= | CA1948239814 | KCNQ1 | c.302G= (p.Trp101=) c.478-12722G= (n.478-12722G=) c.563G= (p.Trp188=) c.182G= (p.Trp61=) c.124-12722G= (n.124-12722G=) | |
11 | g.2570713G>T | CA379129950 | KCNQ1 | c.302G>T (p.Trp101Leu) c.478-12722G>T (n.478-12722G>T) c.563G>T (p.Trp188Leu) c.182G>T (p.Trp61Leu) c.124-12722G>T (n.124-12722G>T) | |
11 | g.2570717dup | CA007508 | KCNQ1 | c.306dup (p.Arg103AlafsTer?) c.478-12718dup (n.478-12718dup) c.567dup (p.Arg190AlafsTer?) c.186dup (p.Arg63AlafsTer?) c.124-12718dup (n.124-12718dup) | ClinVar dbSNP gnomAD v4 |
11 | g.2570717del | CA2612002607 | KCNQ1 | c.306del (p.Arg103GlyfsTer?) c.478-12718del (n.478-12718del) c.567del (p.Arg190GlyfsTer?) c.186del (p.Arg63GlyfsTer?) c.124-12718del (n.124-12718del) | gnomAD v4 |
11 | g.2570716_2570717del | CA915947934 | KCNQ1 | c.305_306del (p.Gly102AlafsTer?) c.478-12719_478-12718del (n.478-12719_478-12718del) c.566_567del (p.Gly189AlafsTer?) c.185_186del (p.Gly62AlafsTer?) c.124-12719_124-12718del (n.124-12719_124-12718del) | ClinVar dbSNP |
11 | g.2570714G>A | CA10587720 | KCNQ1 | c.303G>A (p.Trp101Ter) c.478-12721G>A (n.478-12721G>A) c.564G>A (p.Trp188Ter) c.183G>A (p.Trp61Ter) c.124-12721G>A (n.124-12721G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2570714G>C | CA038418 | KCNQ1 | c.303G>C (p.Trp101Cys) c.478-12721G>C (n.478-12721G>C) c.564G>C (p.Trp188Cys) c.183G>C (p.Trp61Cys) c.124-12721G>C (n.124-12721G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570714G= | CA1948239824 | KCNQ1 | c.303G= (p.Trp101=) c.478-12721G= (n.478-12721G=) c.564G= (p.Trp188=) c.183G= (p.Trp61=) c.124-12721G= (n.124-12721G=) | |
11 | g.2570714G>T | CA379129951 | KCNQ1 | c.303G>T (p.Trp101Cys) c.478-12721G>T (n.478-12721G>T) c.564G>T (p.Trp188Cys) c.183G>T (p.Trp61Cys) c.124-12721G>T (n.124-12721G>T) | |
11 | g.2570715G>A | CA007480 | KCNQ1 | c.304G>A (p.Gly102Arg) c.478-12720G>A (n.478-12720G>A) c.565G>A (p.Gly189Arg) c.184G>A (p.Gly62Arg) c.124-12720G>A (n.124-12720G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.2570715G>C | CA007488 | KCNQ1 | c.304G>C (p.Gly102Arg) c.478-12720G>C (n.478-12720G>C) c.565G>C (p.Gly189Arg) c.184G>C (p.Gly62Arg) c.124-12720G>C (n.124-12720G>C) | ClinVar dbSNP |
11 | g.2570715G= | CA1948239835 | KCNQ1 | c.304G= (p.Gly102=) c.478-12720G= (n.478-12720G=) c.565G= (p.Gly189=) c.184G= (p.Gly62=) c.124-12720G= (n.124-12720G=) | |
11 | g.2570715G>T | CA379129952 | KCNQ1 | c.304G>T (p.Gly102Trp) c.478-12720G>T (n.478-12720G>T) c.565G>T (p.Gly189Trp) c.184G>T (p.Gly62Trp) c.124-12720G>T (n.124-12720G>T) | |
11 | g.2570716G>A | CA007497 | KCNQ1 | c.305G>A (p.Gly102Glu) c.478-12719G>A (n.478-12719G>A) c.566G>A (p.Gly189Glu) c.185G>A (p.Gly62Glu) c.124-12719G>A (n.124-12719G>A) | ClinVar dbSNP |
11 | g.2570716G>C | CA379129954 | KCNQ1 | c.305G>C (p.Gly102Ala) c.478-12719G>C (n.478-12719G>C) c.566G>C (p.Gly189Ala) c.185G>C (p.Gly62Ala) c.124-12719G>C (n.124-12719G>C) | ClinVar |
11 | g.2570716G= | CA1948239849 | KCNQ1 | c.305G= (p.Gly102=) c.478-12719G= (n.478-12719G=) c.566G= (p.Gly189=) c.185G= (p.Gly62=) c.124-12719G= (n.124-12719G=) | |
11 | g.2570716G>T | CA379129953 | KCNQ1 | c.305G>T (p.Gly102Val) c.478-12719G>T (n.478-12719G>T) c.566G>T (p.Gly189Val) c.185G>T (p.Gly62Val) c.124-12719G>T (n.124-12719G>T) | |
11 | g.2570717G>A | CA472037875 | KCNQ1 | c.306G>A (p.Gly102=) c.478-12718G>A (n.478-12718G>A) c.567G>A (p.Gly189=) c.186G>A (p.Gly62=) c.124-12718G>A (n.124-12718G>A) | ClinVar gnomAD v4 |
11 | g.2570717G>C | CA472037876 | KCNQ1 | c.306G>C (p.Gly102=) c.478-12718G>C (n.478-12718G>C) c.567G>C (p.Gly189=) c.186G>C (p.Gly62=) c.124-12718G>C (n.124-12718G>C) | ClinVar gnomAD v3 gnomAD v4 |
11 | g.2570717G= | CA1948239856 | KCNQ1 | c.306G= (p.Gly102=) c.478-12718G= (n.478-12718G=) c.567G= (p.Gly189=) c.186G= (p.Gly62=) c.124-12718G= (n.124-12718G=) | |
11 | g.2570717G>T | CA007520 | KCNQ1 | c.306G>T (p.Gly102=) c.478-12718G>T (n.478-12718G>T) c.567G>T (p.Gly189=) c.186G>T (p.Gly62=) c.124-12718G>T (n.124-12718G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570720_2570725del | CA038479 | KCNQ1 | c.309_314del (p.Leu104_Arg105del) c.478-12715_478-12710del (n.478-12715_478-12710del) c.570_575del (p.Leu191_Arg192del) c.189_194del (p.Leu64_Arg65del) c.124-12715_124-12710del (n.124-12715_124-12710del) | |
11 | g.2570717_2570731delinsGCGGCTGCGCTTTGC | CA1948239858 | KCNQ1 | c.306_320delinsGCGGCTGCGCTTTGC (p.Gly102=) c.478-12718_478-12704delinsGCGGCTGCGCTTTGC (n.478-12718_478-12704delinsGCGGCTGCGCTTTGC) c.567_581delinsGCGGCTGCGCTTTGC (p.Gly189=) c.186_200delinsGCGGCTGCGCTTTGC (p.Gly62=) c.124-12718_124-12704delinsGCGGCTGCGCTTTGC (n.124-12718_124-12704delinsGCGGCTGCGCTTTGC) | |
11 | g.2570718C>A | CA038456 | KCNQ1 | c.307C>A (p.Arg103=) c.478-12717C>A (n.478-12717C>A) c.568C>A (p.Arg190=) c.187C>A (p.Arg63=) c.124-12717C>A (n.124-12717C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570718C= | CA1948239875 | KCNQ1 | c.307C= (p.Arg103=) c.478-12717C= (n.478-12717C=) c.568C= (p.Arg190=) c.187C= (p.Arg63=) c.124-12717C= (n.124-12717C=) | |
11 | g.2570718C>G | CA379129955 | KCNQ1 | c.307C>G (p.Arg103Gly) c.478-12717C>G (n.478-12717C>G) c.568C>G (p.Arg190Gly) c.187C>G (p.Arg63Gly) c.124-12717C>G (n.124-12717C>G) | |
11 | g.2570718C>T | CA007529 | KCNQ1 | c.307C>T (p.Arg103Trp) c.478-12717C>T (n.478-12717C>T) c.568C>T (p.Arg190Trp) c.187C>T (p.Arg63Trp) c.124-12717C>T (n.124-12717C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2570719_2570732del | CA007538 | KCNQ1 | c.308_321del (p.Arg103ProfsTer?) c.478-12716_478-12703del (n.478-12716_478-12703del) c.569_582del (p.Arg190ProfsTer?) c.188_201del (p.Arg63ProfsTer?) c.124-12716_124-12703del (n.124-12716_124-12703del) | ClinVar dbSNP |
11 | g.2570719G>A | CA007542 | KCNQ1 | c.308G>A (p.Arg103Gln) c.478-12716G>A (n.478-12716G>A) c.569G>A (p.Arg190Gln) c.188G>A (p.Arg63Gln) c.124-12716G>A (n.124-12716G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570719G>C | CA10582882 | KCNQ1 | c.308G>C (p.Arg103Pro) c.478-12716G>C (n.478-12716G>C) c.569G>C (p.Arg190Pro) c.188G>C (p.Arg63Pro) c.124-12716G>C (n.124-12716G>C) | ClinVar dbSNP |
11 | g.2570719G= | CA1948239888 | KCNQ1 | c.308G= (p.Arg103=) c.478-12716G= (n.478-12716G=) c.569G= (p.Arg190=) c.188G= (p.Arg63=) c.124-12716G= (n.124-12716G=) | |
11 | g.2570719G>T | CA007551 | KCNQ1 | c.308G>T (p.Arg103Leu) c.478-12716G>T (n.478-12716G>T) c.569G>T (p.Arg190Leu) c.188G>T (p.Arg63Leu) c.124-12716G>T (n.124-12716G>T) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.2570719_2570724delinsGGCTGC | CA1948239892 | KCNQ1 | c.308_313delinsGGCTGC (p.Arg103=) c.478-12716_478-12711delinsGGCTGC (n.478-12716_478-12711delinsGGCTGC) c.569_574delinsGGCTGC (p.Arg190=) c.188_193delinsGGCTGC (p.Arg63=) c.124-12716_124-12711delinsGGCTGC (n.124-12716_124-12711delinsGGCTGC) | |
11 | g.2570720G>A | CA038508 | KCNQ1 | c.309G>A (p.Arg103=) c.478-12715G>A (n.478-12715G>A) c.570G>A (p.Arg190=) c.189G>A (p.Arg63=) c.124-12715G>A (n.124-12715G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570720G>C | CA472037878 | KCNQ1 | c.309G>C (p.Arg103=) c.478-12715G>C (n.478-12715G>C) c.570G>C (p.Arg190=) c.189G>C (p.Arg63=) c.124-12715G>C (n.124-12715G>C) | |
11 | g.2570720G= | CA1948239908 | KCNQ1 | c.309G= (p.Arg103=) c.478-12715G= (n.478-12715G=) c.570G= (p.Arg190=) c.189G= (p.Arg63=) c.124-12715G= (n.124-12715G=) | |
11 | g.2570720G>T | CA472037879 | KCNQ1 | c.309G>T (p.Arg103=) c.478-12715G>T (n.478-12715G>T) c.570G>T (p.Arg190=) c.189G>T (p.Arg63=) c.124-12715G>T (n.124-12715G>T) | ClinVar dbSNP |
11 | g.2570723_2570727del | CA007559 | KCNQ1 | c.312_316del (p.Arg105CysfsTer?) c.478-12712_478-12708del (n.478-12712_478-12708del) c.573_577del (p.Arg192CysfsTer?) c.192_196del (p.Arg65CysfsTer?) c.124-12712_124-12708del (n.124-12712_124-12708del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570721C>A | CA379129967 | KCNQ1 | c.310C>A (p.Leu104Met) c.478-12714C>A (n.478-12714C>A) c.571C>A (p.Leu191Met) c.190C>A (p.Leu64Met) c.124-12714C>A (n.124-12714C>A) | |
11 | g.2570721C>G | CA379129969 | KCNQ1 | c.310C>G (p.Leu104Val) c.478-12714C>G (n.478-12714C>G) c.571C>G (p.Leu191Val) c.190C>G (p.Leu64Val) c.124-12714C>G (n.124-12714C>G) | |
11 | g.2570721C>T | CA472037880 | KCNQ1 | c.310C>T (p.Leu104=) c.478-12714C>T (n.478-12714C>T) c.571C>T (p.Leu191=) c.190C>T (p.Leu64=) c.124-12714C>T (n.124-12714C>T) | |
11 | g.2570722T>A | CA379129974 | KCNQ1 | c.311T>A (p.Leu104Gln) c.478-12713T>A (n.478-12713T>A) c.572T>A (p.Leu191Gln) c.191T>A (p.Leu64Gln) c.124-12713T>A (n.124-12713T>A) | |
11 | g.2570722T>C | CA007572 | KCNQ1 | c.311T>C (p.Leu104Pro) c.478-12713T>C (n.478-12713T>C) c.572T>C (p.Leu191Pro) c.191T>C (p.Leu64Pro) c.124-12713T>C (n.124-12713T>C) | ClinVar dbSNP |
11 | g.2570722T>G | CA379129972 | KCNQ1 | c.311T>G (p.Leu104Arg) c.478-12713T>G (n.478-12713T>G) c.572T>G (p.Leu191Arg) c.191T>G (p.Leu64Arg) c.124-12713T>G (n.124-12713T>G) | |
11 | g.2570722T= | CA1948239917 | KCNQ1 | c.311T= (p.Leu104=) c.478-12713T= (n.478-12713T=) c.572T= (p.Leu191=) c.191T= (p.Leu64=) c.124-12713T= (n.124-12713T=) | |
11 | g.2570723G>A | CA472037882 | KCNQ1 | c.312G>A (p.Leu104=) c.478-12712G>A (n.478-12712G>A) c.573G>A (p.Leu191=) c.192G>A (p.Leu64=) c.124-12712G>A (n.124-12712G>A) | ClinVar gnomAD v4 |
11 | g.2570723G>C | CA472037883 | KCNQ1 | c.312G>C (p.Leu104=) c.478-12712G>C (n.478-12712G>C) c.573G>C (p.Leu191=) c.192G>C (p.Leu64=) c.124-12712G>C (n.124-12712G>C) | |
11 | g.2570723G= | CA1948239929 | KCNQ1 | c.312G= (p.Leu104=) c.478-12712G= (n.478-12712G=) c.573G= (p.Leu191=) c.192G= (p.Leu64=) c.124-12712G= (n.124-12712G=) | |
11 | g.2570723G>T | CA038523 | KCNQ1 | c.312G>T (p.Leu104=) c.478-12712G>T (n.478-12712G>T) c.573G>T (p.Leu191=) c.192G>T (p.Leu64=) c.124-12712G>T (n.124-12712G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570724C>A | CA379129982 | KCNQ1 | c.313C>A (p.Arg105Ser) c.478-12711C>A (n.478-12711C>A) c.574C>A (p.Arg192Ser) c.193C>A (p.Arg65Ser) c.124-12711C>A (n.124-12711C>A) | gnomAD v4 |
11 | g.2570724C= | CA1948239937 | KCNQ1 | c.313C= (p.Arg105=) c.478-12711C= (n.478-12711C=) c.574C= (p.Arg192=) c.193C= (p.Arg65=) c.124-12711C= (n.124-12711C=) | |
11 | g.2570724C>G | CA379129980 | KCNQ1 | c.313C>G (p.Arg105Gly) c.478-12711C>G (n.478-12711C>G) c.574C>G (p.Arg192Gly) c.193C>G (p.Arg65Gly) c.124-12711C>G (n.124-12711C>G) | |
11 | g.2570724C>T | CA038536 | KCNQ1 | c.313C>T (p.Arg105Cys) c.478-12711C>T (n.478-12711C>T) c.574C>T (p.Arg192Cys) c.193C>T (p.Arg65Cys) c.124-12711C>T (n.124-12711C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2570725G>A | CA007593 | KCNQ1 | c.314G>A (p.Arg105His) c.478-12710G>A (n.478-12710G>A) c.575G>A (p.Arg192His) c.194G>A (p.Arg65His) c.124-12710G>A (n.124-12710G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2570725G>C | CA007599 | KCNQ1 | c.314G>C (p.Arg105Pro) c.478-12710G>C (n.478-12710G>C) c.575G>C (p.Arg192Pro) c.194G>C (p.Arg65Pro) c.124-12710G>C (n.124-12710G>C) | ClinVar dbSNP |
11 | g.2570725G= | CA1948239956 | KCNQ1 | c.314G= (p.Arg105=) c.478-12710G= (n.478-12710G=) c.575G= (p.Arg192=) c.194G= (p.Arg65=) c.124-12710G= (n.124-12710G=) | |
11 | g.2570725G>T | CA379129988 | KCNQ1 | c.314G>T (p.Arg105Leu) c.478-12710G>T (n.478-12710G>T) c.575G>T (p.Arg192Leu) c.194G>T (p.Arg65Leu) c.124-12710G>T (n.124-12710G>T) | ClinVar dbSNP |
11 | g.2570726C>A | CA472037884 | KCNQ1 | c.315C>A (p.Arg105=) c.478-12709C>A (n.478-12709C>A) c.576C>A (p.Arg192=) c.195C>A (p.Arg65=) c.124-12709C>A (n.124-12709C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2570726C= | CA1948239970 | KCNQ1 | c.315C= (p.Arg105=) c.478-12709C= (n.478-12709C=) c.576C= (p.Arg192=) c.195C= (p.Arg65=) c.124-12709C= (n.124-12709C=) | |
11 | g.2570726C>G | CA472037885 | KCNQ1 | c.315C>G (p.Arg105=) c.478-12709C>G (n.478-12709C>G) c.576C>G (p.Arg192=) c.195C>G (p.Arg65=) c.124-12709C>G (n.124-12709C>G) | |
11 | g.2570726C>T | CA038548 | KCNQ1 | c.315C>T (p.Arg105=) c.478-12709C>T (n.478-12709C>T) c.576C>T (p.Arg192=) c.195C>T (p.Arg65=) c.124-12709C>T (n.124-12709C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570727T>A | CA379129997 | KCNQ1 | c.316T>A (p.Phe106Ile) c.478-12708T>A (n.478-12708T>A) c.577T>A (p.Phe193Ile) c.196T>A (p.Phe66Ile) c.124-12708T>A (n.124-12708T>A) | |
11 | g.2570727T>C | CA007608 | KCNQ1 | c.316T>C (p.Phe106Leu) c.478-12708T>C (n.478-12708T>C) c.577T>C (p.Phe193Leu) c.196T>C (p.Phe66Leu) c.124-12708T>C (n.124-12708T>C) | ClinVar dbSNP |
11 | g.2570727T>G | CA379129995 | KCNQ1 | c.316T>G (p.Phe106Val) c.478-12708T>G (n.478-12708T>G) c.577T>G (p.Phe193Val) c.196T>G (p.Phe66Val) c.124-12708T>G (n.124-12708T>G) | |
11 | g.2570727T= | CA1948239982 | KCNQ1 | c.316T= (p.Phe106=) c.478-12708T= (n.478-12708T=) c.577T= (p.Phe193=) c.196T= (p.Phe66=) c.124-12708T= (n.124-12708T=) | |
11 | g.2570728T>A | CA379130000 | KCNQ1 | c.317T>A (p.Phe106Tyr) c.478-12707T>A (n.478-12707T>A) c.578T>A (p.Phe193Tyr) c.197T>A (p.Phe66Tyr) c.124-12707T>A (n.124-12707T>A) | |
11 | g.2570728T>C | CA379130003 | KCNQ1 | c.317T>C (p.Phe106Ser) c.478-12707T>C (n.478-12707T>C) c.578T>C (p.Phe193Ser) c.197T>C (p.Phe66Ser) c.124-12707T>C (n.124-12707T>C) | |
11 | g.2570728T>G | CA379130005 | KCNQ1 | c.317T>G (p.Phe106Cys) c.478-12707T>G (n.478-12707T>G) c.578T>G (p.Phe193Cys) c.197T>G (p.Phe66Cys) c.124-12707T>G (n.124-12707T>G) | |
11 | g.2570729T>A | CA007620 | KCNQ1 | c.318T>A (p.Phe106Leu) c.478-12706T>A (n.478-12706T>A) c.579T>A (p.Phe193Leu) c.198T>A (p.Phe66Leu) c.124-12706T>A (n.124-12706T>A) | ClinVar dbSNP |
11 | g.2570729T>C | CA472037886 | KCNQ1 | c.318T>C (p.Phe106=) c.478-12706T>C (n.478-12706T>C) c.579T>C (p.Phe193=) c.198T>C (p.Phe66=) c.124-12706T>C (n.124-12706T>C) | |
11 | g.2570729T>G | CA379130010 | KCNQ1 | c.318T>G (p.Phe106Leu) c.478-12706T>G (n.478-12706T>G) c.579T>G (p.Phe193Leu) c.198T>G (p.Phe66Leu) c.124-12706T>G (n.124-12706T>G) | |
11 | g.2570729T= | CA1948239986 | KCNQ1 | c.318T= (p.Phe106=) c.478-12706T= (n.478-12706T=) c.579T= (p.Phe193=) c.198T= (p.Phe66=) c.124-12706T= (n.124-12706T=) | |
11 | g.2570730G>A | CA379130015 | KCNQ1 | c.319G>A (p.Ala107Thr) c.478-12705G>A (n.478-12705G>A) c.580G>A (p.Ala194Thr) c.199G>A (p.Ala67Thr) c.124-12705G>A (n.124-12705G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570730G>C | CA007628 | KCNQ1 | c.319G>C (p.Ala107Pro) c.478-12705G>C (n.478-12705G>C) c.580G>C (p.Ala194Pro) c.199G>C (p.Ala67Pro) c.124-12705G>C (n.124-12705G>C) | ClinVar dbSNP |
11 | g.2570730G= | CA1948239994 | KCNQ1 | c.319G= (p.Ala107=) c.478-12705G= (n.478-12705G=) c.580G= (p.Ala194=) c.199G= (p.Ala67=) c.124-12705G= (n.124-12705G=) | |
11 | g.2570730G>T | CA379130013 | KCNQ1 | c.319G>T (p.Ala107Ser) c.478-12705G>T (n.478-12705G>T) c.580G>T (p.Ala194Ser) c.199G>T (p.Ala67Ser) c.124-12705G>T (n.124-12705G>T) | gnomAD v4 |
11 | g.2570731C>A | CA379130018 | KCNQ1 | c.320C>A (p.Ala107Asp) c.478-12704C>A (n.478-12704C>A) c.581C>A (p.Ala194Asp) c.200C>A (p.Ala67Asp) c.124-12704C>A (n.124-12704C>A) | |
11 | g.2570731C>G | CA379130021 | KCNQ1 | c.320C>G (p.Ala107Gly) c.478-12704C>G (n.478-12704C>G) c.581C>G (p.Ala194Gly) c.200C>G (p.Ala67Gly) c.124-12704C>G (n.124-12704C>G) | |
11 | g.2570731C>T | CA379130023 | KCNQ1 | c.320C>T (p.Ala107Val) c.478-12704C>T (n.478-12704C>T) c.581C>T (p.Ala194Val) c.200C>T (p.Ala67Val) c.124-12704C>T (n.124-12704C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2570732C>A | CA472037887 | KCNQ1 | c.321C>A (p.Ala107=) c.478-12703C>A (n.478-12703C>A) c.582C>A (p.Ala194=) c.201C>A (p.Ala67=) c.124-12703C>A (n.124-12703C>A) | |
11 | g.2570732C>G | CA472037889 | KCNQ1 | c.321C>G (p.Ala107=) c.478-12703C>G (n.478-12703C>G) c.582C>G (p.Ala194=) c.201C>G (p.Ala67=) c.124-12703C>G (n.124-12703C>G) | |
11 | g.2570732C>T | CA472037888 | KCNQ1 | c.321C>T (p.Ala107=) c.478-12703C>T (n.478-12703C>T) c.582C>T (p.Ala194=) c.201C>T (p.Ala67=) c.124-12703C>T (n.124-12703C>T) | |
11 | g.2570734_2570800del | CA2580615600 | KCNQ1 | c.323_343+46del c.478-12701_478-12635del (n.478-12701_478-12635del) c.584_604+46del c.203_223+46del c.124-12701_124-12635del (n.124-12701_124-12635del) | ClinVar |
11 | g.2570733C>A | CA472037890 | KCNQ1 | c.322C>A (p.Arg108=) c.478-12702C>A (n.478-12702C>A) c.583C>A (p.Arg195=) c.202C>A (p.Arg68=) c.124-12702C>A (n.124-12702C>A) | |
11 | g.2570733C= | CA1948240005 | KCNQ1 | c.322C= (p.Arg108=) c.478-12702C= (n.478-12702C=) c.583C= (p.Arg195=) c.202C= (p.Arg68=) c.124-12702C= (n.124-12702C=) | |
11 | g.2570733C>G | CA379130026 | KCNQ1 | c.322C>G (p.Arg108Gly) c.478-12702C>G (n.478-12702C>G) c.583C>G (p.Arg195Gly) c.202C>G (p.Arg68Gly) c.124-12702C>G (n.124-12702C>G) | ClinVar gnomAD v4 |
11 | g.2570733C>T | CA007637 | KCNQ1 | c.322C>T (p.Arg108Trp) c.478-12702C>T (n.478-12702C>T) c.583C>T (p.Arg195Trp) c.202C>T (p.Arg68Trp) c.124-12702C>T (n.124-12702C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570733_2570734delinsCG | CA1948240008 | KCNQ1 | c.322_323delinsCG (p.Arg108=) c.478-12702_478-12701delinsCG (n.478-12702_478-12701delinsCG) c.583_584delinsCG (p.Arg195=) c.202_203delinsCG (p.Arg68=) c.124-12702_124-12701delinsCG (n.124-12702_124-12701delinsCG) | |
11 | g.2570734G>A | CA007641 | KCNQ1 | c.323G>A (p.Arg108Gln) c.478-12701G>A (n.478-12701G>A) c.584G>A (p.Arg195Gln) c.203G>A (p.Arg68Gln) c.124-12701G>A (n.124-12701G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570734G>C | CA379130032 | KCNQ1 | c.323G>C (p.Arg108Pro) c.478-12701G>C (n.478-12701G>C) c.584G>C (p.Arg195Pro) c.203G>C (p.Arg68Pro) c.124-12701G>C (n.124-12701G>C) | ClinVar dbSNP |
11 | g.2570734G= | CA1948240030 | KCNQ1 | c.323G= (p.Arg108=) c.478-12701G= (n.478-12701G=) c.584G= (p.Arg195=) c.203G= (p.Arg68=) c.124-12701G= (n.124-12701G=) | |
11 | g.2570734G>T | CA379130034 | KCNQ1 | c.323G>T (p.Arg108Leu) c.478-12701G>T (n.478-12701G>T) c.584G>T (p.Arg195Leu) c.203G>T (p.Arg68Leu) c.124-12701G>T (n.124-12701G>T) | gnomAD v4 |
11 | g.2570735del | CA007649 | KCNQ1 | c.324del (p.Lys109SerfsTer?) c.478-12700del (n.478-12700del) c.585del (p.Lys196SerfsTer?) c.204del (p.Lys69SerfsTer?) c.124-12700del (n.124-12700del) | ClinVar dbSNP |
11 | g.2570735G>A | CA472037891 | KCNQ1 | c.324G>A (p.Arg108=) c.478-12700G>A (n.478-12700G>A) c.585G>A (p.Arg195=) c.204G>A (p.Arg68=) c.124-12700G>A (n.124-12700G>A) | |
11 | g.2570735G>C | CA472037892 | KCNQ1 | c.324G>C (p.Arg108=) c.478-12700G>C (n.478-12700G>C) c.585G>C (p.Arg195=) c.204G>C (p.Arg68=) c.124-12700G>C (n.124-12700G>C) | |
11 | g.2570735G>T | CA472037893 | KCNQ1 | c.324G>T (p.Arg108=) c.478-12700G>T (n.478-12700G>T) c.585G>T (p.Arg195=) c.204G>T (p.Arg68=) c.124-12700G>T (n.124-12700G>T) | |
11 | g.2570736A= | CA1948240042 | KCNQ1 | c.325A= (p.Lys109=) c.478-12699A= (n.478-12699A=) c.586A= (p.Lys196=) c.205A= (p.Lys69=) c.124-12699A= (n.124-12699A=) | |
11 | g.2570736A>C | CA379130039 | KCNQ1 | c.325A>C (p.Lys109Gln) c.478-12699A>C (n.478-12699A>C) c.586A>C (p.Lys196Gln) c.205A>C (p.Lys69Gln) c.124-12699A>C (n.124-12699A>C) | ClinVar dbSNP |
11 | g.2570736A>G | CA379130042 | KCNQ1 | c.325A>G (p.Lys109Glu) c.478-12699A>G (n.478-12699A>G) c.586A>G (p.Lys196Glu) c.205A>G (p.Lys69Glu) c.124-12699A>G (n.124-12699A>G) | |
11 | g.2570736A>T | CA379130043 | KCNQ1 | c.325A>T (p.Lys109Ter) c.478-12699A>T (n.478-12699A>T) c.586A>T (p.Lys196Ter) c.205A>T (p.Lys69Ter) c.124-12699A>T (n.124-12699A>T) | gnomAD v4 |
11 | g.2570737dup | CA2739276177 | KCNQ1 | c.326dup (p.Pro110AlafsTer?) c.478-12698dup (n.478-12698dup) c.587dup (p.Pro197AlafsTer?) c.206dup (p.Pro70AlafsTer?) c.124-12698dup (n.124-12698dup) | ClinVar |
11 | g.2570737A= | CA1948240051 | KCNQ1 | c.326A= (p.Lys109=) c.478-12698A= (n.478-12698A=) c.587A= (p.Lys196=) c.206A= (p.Lys69=) c.124-12698A= (n.124-12698A=) | |
11 | g.2570737A>C | CA007655 | KCNQ1 | c.326A>C (p.Lys109Thr) c.478-12698A>C (n.478-12698A>C) c.587A>C (p.Lys196Thr) c.206A>C (p.Lys69Thr) c.124-12698A>C (n.124-12698A>C) | ClinVar dbSNP |
11 | g.2570737A>G | CA379130047 | KCNQ1 | c.326A>G (p.Lys109Arg) c.478-12698A>G (n.478-12698A>G) c.587A>G (p.Lys196Arg) c.206A>G (p.Lys69Arg) c.124-12698A>G (n.124-12698A>G) | |
11 | g.2570737A>T | CA379130049 | KCNQ1 | c.326A>T (p.Lys109Met) c.478-12698A>T (n.478-12698A>T) c.587A>T (p.Lys196Met) c.206A>T (p.Lys69Met) c.124-12698A>T (n.124-12698A>T) | |
11 | g.2570738G>A | CA472037896 | KCNQ1 | c.327G>A (p.Lys109=) c.478-12697G>A (n.478-12697G>A) c.588G>A (p.Lys196=) c.207G>A (p.Lys69=) c.124-12697G>A (n.124-12697G>A) | ClinVar |
11 | g.2570738G>C | CA379130051 | KCNQ1 | c.327G>C (p.Lys109Asn) c.478-12697G>C (n.478-12697G>C) c.588G>C (p.Lys196Asn) c.207G>C (p.Lys69Asn) c.124-12697G>C (n.124-12697G>C) | |
11 | g.2570738G= | CA1948240058 | KCNQ1 | c.327G= (p.Lys109=) c.478-12697G= (n.478-12697G=) c.588G= (p.Lys196=) c.207G= (p.Lys69=) c.124-12697G= (n.124-12697G=) | |
11 | g.2570738G>T | CA379130053 | KCNQ1 | c.327G>T (p.Lys109Asn) c.478-12697G>T (n.478-12697G>T) c.588G>T (p.Lys196Asn) c.207G>T (p.Lys69Asn) c.124-12697G>T (n.124-12697G>T) | dbSNP gnomAD v4 |
11 | g.2570739C>A | CA379130056 | KCNQ1 | c.328C>A (p.Pro110Thr) c.478-12696C>A (n.478-12696C>A) c.589C>A (p.Pro197Thr) c.208C>A (p.Pro70Thr) c.124-12696C>A (n.124-12696C>A) | |
11 | g.2570739C= | CA1948240066 | KCNQ1 | c.328C= (p.Pro110=) c.478-12696C= (n.478-12696C=) c.589C= (p.Pro197=) c.208C= (p.Pro70=) c.124-12696C= (n.124-12696C=) | |
11 | g.2570739C>G | CA379130059 | KCNQ1 | c.328C>G (p.Pro110Ala) c.478-12696C>G (n.478-12696C>G) c.589C>G (p.Pro197Ala) c.208C>G (p.Pro70Ala) c.124-12696C>G (n.124-12696C>G) | |
11 | g.2570739C>T | CA007665 | KCNQ1 | c.328C>T (p.Pro110Ser) c.478-12696C>T (n.478-12696C>T) c.589C>T (p.Pro197Ser) c.208C>T (p.Pro70Ser) c.124-12696C>T (n.124-12696C>T) | ClinVar dbSNP |
11 | g.2570741del | CA2612002654 | KCNQ1 | c.330del (p.Ile111PhefsTer?) c.478-12694del (n.478-12694del) c.591del (p.Ile198PhefsTer?) c.210del (p.Ile71PhefsTer?) c.124-12694del (n.124-12694del) | gnomAD v4 |
11 | g.2570740C>A | CA379130064 | KCNQ1 | c.329C>A (p.Pro110His) c.478-12695C>A (n.478-12695C>A) c.590C>A (p.Pro197His) c.209C>A (p.Pro70His) c.124-12695C>A (n.124-12695C>A) | ClinVar dbSNP |
11 | g.2570740C= | CA1948240075 | KCNQ1 | c.329C= (p.Pro110=) c.478-12695C= (n.478-12695C=) c.590C= (p.Pro197=) c.209C= (p.Pro70=) c.124-12695C= (n.124-12695C=) | |
11 | g.2570740C>G | CA379130067 | KCNQ1 | c.329C>G (p.Pro110Arg) c.478-12695C>G (n.478-12695C>G) c.590C>G (p.Pro197Arg) c.209C>G (p.Pro70Arg) c.124-12695C>G (n.124-12695C>G) | |
11 | g.2570740C>T | CA007671 | KCNQ1 | c.329C>T (p.Pro110Leu) c.478-12695C>T (n.478-12695C>T) c.590C>T (p.Pro197Leu) c.209C>T (p.Pro70Leu) c.124-12695C>T (n.124-12695C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2570741C>A | CA472037898 | KCNQ1 | c.330C>A (p.Pro110=) c.478-12694C>A (n.478-12694C>A) c.591C>A (p.Pro197=) c.210C>A (p.Pro70=) c.124-12694C>A (n.124-12694C>A) | |
11 | g.2570741C= | CA1948240088 | KCNQ1 | c.330C= (p.Pro110=) c.478-12694C= (n.478-12694C=) c.591C= (p.Pro197=) c.210C= (p.Pro70=) c.124-12694C= (n.124-12694C=) | |
11 | g.2570741C>G | CA472037899 | KCNQ1 | c.330C>G (p.Pro110=) c.478-12694C>G (n.478-12694C>G) c.591C>G (p.Pro197=) c.210C>G (p.Pro70=) c.124-12694C>G (n.124-12694C>G) | |
11 | g.2570741C>T | CA472037900 | KCNQ1 | c.330C>T (p.Pro110=) c.478-12694C>T (n.478-12694C>T) c.591C>T (p.Pro197=) c.210C>T (p.Pro70=) c.124-12694C>T (n.124-12694C>T) | dbSNP gnomAD v2 |
11 | g.2570742A= | CA1948240096 | KCNQ1 | c.331A= (p.Ile111=) c.478-12693A= (n.478-12693A=) c.592A= (p.Ile198=) c.211A= (p.Ile71=) c.124-12693A= (n.124-12693A=) | |
11 | g.2570742A>C | CA379130072 | KCNQ1 | c.331A>C (p.Ile111Leu) c.478-12693A>C (n.478-12693A>C) c.592A>C (p.Ile198Leu) c.211A>C (p.Ile71Leu) c.124-12693A>C (n.124-12693A>C) | |
11 | g.2570742A>G | CA007677 | KCNQ1 | c.331A>G (p.Ile111Val) c.478-12693A>G (n.478-12693A>G) c.592A>G (p.Ile198Val) c.211A>G (p.Ile71Val) c.124-12693A>G (n.124-12693A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570742A>T | CA379130074 | KCNQ1 | c.331A>T (p.Ile111Phe) c.478-12693A>T (n.478-12693A>T) c.592A>T (p.Ile198Phe) c.211A>T (p.Ile71Phe) c.124-12693A>T (n.124-12693A>T) | |
11 | g.2570743T>A | CA379130078 | KCNQ1 | c.332T>A (p.Ile111Asn) c.478-12692T>A (n.478-12692T>A) c.593T>A (p.Ile198Asn) c.212T>A (p.Ile71Asn) c.124-12692T>A (n.124-12692T>A) | |
11 | g.2570743T>C | CA379130080 | KCNQ1 | c.332T>C (p.Ile111Thr) c.478-12692T>C (n.478-12692T>C) c.593T>C (p.Ile198Thr) c.212T>C (p.Ile71Thr) c.124-12692T>C (n.124-12692T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2570743T>G | CA379130082 | KCNQ1 | c.332T>G (p.Ile111Ser) c.478-12692T>G (n.478-12692T>G) c.593T>G (p.Ile198Ser) c.212T>G (p.Ile71Ser) c.124-12692T>G (n.124-12692T>G) | gnomAD v4 |
11 | g.2570743T= | CA1948240107 | KCNQ1 | c.332T= (p.Ile111=) c.478-12692T= (n.478-12692T=) c.593T= (p.Ile198=) c.212T= (p.Ile71=) c.124-12692T= (n.124-12692T=) | |
11 | g.2570744T>A | CA472037901 | KCNQ1 | c.333T>A (p.Ile111=) c.478-12691T>A (n.478-12691T>A) c.594T>A (p.Ile198=) c.213T>A (p.Ile71=) c.124-12691T>A (n.124-12691T>A) | |
11 | g.2570744T>C | CA472037902 | KCNQ1 | c.333T>C (p.Ile111=) c.478-12691T>C (n.478-12691T>C) c.594T>C (p.Ile198=) c.213T>C (p.Ile71=) c.124-12691T>C (n.124-12691T>C) | |
11 | g.2570744T>G | CA379130085 | KCNQ1 | c.333T>G (p.Ile111Met) c.478-12691T>G (n.478-12691T>G) c.594T>G (p.Ile198Met) c.213T>G (p.Ile71Met) c.124-12691T>G (n.124-12691T>G) | |
11 | g.2570745T>A | CA379130088 | KCNQ1 | c.334T>A (p.Ser112Thr) c.478-12690T>A (n.478-12690T>A) c.595T>A (p.Ser199Thr) c.214T>A (p.Ser72Thr) c.124-12690T>A (n.124-12690T>A) | |
11 | g.2570745T>C | CA379130093 | KCNQ1 | c.334T>C (p.Ser112Pro) c.478-12690T>C (n.478-12690T>C) c.595T>C (p.Ser199Pro) c.214T>C (p.Ser72Pro) c.124-12690T>C (n.124-12690T>C) | |
11 | g.2570745T>G | CA007685 | KCNQ1 | c.334T>G (p.Ser112Ala) c.478-12690T>G (n.478-12690T>G) c.595T>G (p.Ser199Ala) c.214T>G (p.Ser72Ala) c.124-12690T>G (n.124-12690T>G) | ClinVar dbSNP |
11 | g.2570745T= | CA1948240115 | KCNQ1 | c.334T= (p.Ser112=) c.478-12690T= (n.478-12690T=) c.595T= (p.Ser199=) c.214T= (p.Ser72=) c.124-12690T= (n.124-12690T=) | |
11 | g.2570745_2570746del | CA2612002674 | KCNQ1 | c.334_335del (p.Ser112HisfsTer?) c.478-12690_478-12689del (n.478-12690_478-12689del) c.595_596del (p.Ser199HisfsTer?) c.214_215del (p.Ser72HisfsTer?) c.124-12690_124-12689del (n.124-12690_124-12689del) | gnomAD v4 |
11 | g.2570746C>A | CA379130095 | KCNQ1 | c.335C>A (p.Ser112Tyr) c.478-12689C>A (n.478-12689C>A) c.596C>A (p.Ser199Tyr) c.215C>A (p.Ser72Tyr) c.124-12689C>A (n.124-12689C>A) | |
11 | g.2570746C= | CA1948240120 | KCNQ1 | c.335C= (p.Ser112=) c.478-12689C= (n.478-12689C=) c.596C= (p.Ser199=) c.215C= (p.Ser72=) c.124-12689C= (n.124-12689C=) | |
11 | g.2570746C>G | CA379130096 | KCNQ1 | c.335C>G (p.Ser112Cys) c.478-12689C>G (n.478-12689C>G) c.596C>G (p.Ser199Cys) c.215C>G (p.Ser72Cys) c.124-12689C>G (n.124-12689C>G) | |
11 | g.2570746C>T | CA379130098 | KCNQ1 | c.335C>T (p.Ser112Phe) c.478-12689C>T (n.478-12689C>T) c.596C>T (p.Ser199Phe) c.215C>T (p.Ser72Phe) c.124-12689C>T (n.124-12689C>T) | |
11 | g.2570747C>A | CA472037903 | KCNQ1 | c.336C>A (p.Ser112=) c.478-12688C>A (n.478-12688C>A) c.597C>A (p.Ser199=) c.216C>A (p.Ser72=) c.124-12688C>A (n.124-12688C>A) | |
11 | g.2570747C= | CA1948240125 | KCNQ1 | c.336C= (p.Ser112=) c.478-12688C= (n.478-12688C=) c.597C= (p.Ser199=) c.216C= (p.Ser72=) c.124-12688C= (n.124-12688C=) | |
11 | g.2570747C>G | CA038634 | KCNQ1 | c.336C>G (p.Ser112=) c.478-12688C>G (n.478-12688C>G) c.597C>G (p.Ser199=) c.216C>G (p.Ser72=) c.124-12688C>G (n.124-12688C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570747C>T | CA472037904 | KCNQ1 | c.336C>T (p.Ser112=) c.478-12688C>T (n.478-12688C>T) c.597C>T (p.Ser199=) c.216C>T (p.Ser72=) c.124-12688C>T (n.124-12688C>T) | dbSNP COSMIC COSMIC |
11 | g.2570751_2570753dup | CA216309956 | KCNQ1 | c.340_342dup (p.Ile114_Asp115insIle) c.478-12684_478-12682dup (n.478-12684_478-12682dup) c.601_603dup (p.Ile201_Asp202insIle) c.220_222dup (p.Ile74_Asp75insIle) c.124-12684_124-12682dup (n.124-12684_124-12682dup) | ClinVar dbSNP |
11 | g.2570748A>C | CA379130104 | KCNQ1 | c.337A>C (p.Ile113Leu) c.478-12687A>C (n.478-12687A>C) c.598A>C (p.Ile200Leu) c.217A>C (p.Ile73Leu) c.124-12687A>C (n.124-12687A>C) | gnomAD v4 |
11 | g.2570748A>G | CA379130107 | KCNQ1 | c.337A>G (p.Ile113Val) c.478-12687A>G (n.478-12687A>G) c.598A>G (p.Ile200Val) c.217A>G (p.Ile73Val) c.124-12687A>G (n.124-12687A>G) | ClinVar gnomAD v4 |
11 | g.2570748A>T | CA379130110 | KCNQ1 | c.337A>T (p.Ile113Phe) c.478-12687A>T (n.478-12687A>T) c.598A>T (p.Ile200Phe) c.217A>T (p.Ile73Phe) c.124-12687A>T (n.124-12687A>T) | COSMIC COSMIC |
11 | g.2570748_2570759delinsATCATCGGTGAG | CA1948240133 | KCNQ1 | c.337_343+5delinsATCATCGGTGAG c.478-12687_478-12676delinsATCATCGGTGAG (n.478-12687_478-12676delinsATCATCGGTGAG) c.598_604+5delinsATCATCGGTGAG c.217_223+5delinsATCATCGGTGAG c.124-12687_124-12676delinsATCATCGGTGAG (n.124-12687_124-12676delinsATCATCGGTGAG) | |
11 | g.2570749T>A | CA379130113 | KCNQ1 | c.338T>A (p.Ile113Asn) c.478-12686T>A (n.478-12686T>A) c.599T>A (p.Ile200Asn) c.218T>A (p.Ile73Asn) c.124-12686T>A (n.124-12686T>A) | ClinVar dbSNP |
11 | g.2570749T>C | CA379130115 | KCNQ1 | c.338T>C (p.Ile113Thr) c.478-12686T>C (n.478-12686T>C) c.599T>C (p.Ile200Thr) c.218T>C (p.Ile73Thr) c.124-12686T>C (n.124-12686T>C) | |
11 | g.2570749T>G | CA379130117 | KCNQ1 | c.338T>G (p.Ile113Ser) c.478-12686T>G (n.478-12686T>G) c.599T>G (p.Ile200Ser) c.218T>G (p.Ile73Ser) c.124-12686T>G (n.124-12686T>G) | |
11 | g.2570753_2570763del | CA306117 | KCNQ1 | c.342_343+9del c.478-12682_478-12672del (n.478-12682_478-12672del) c.603_604+9del c.222_223+9del c.124-12682_124-12672del (n.124-12682_124-12672del) | ClinVar dbSNP |
11 | g.2570750C>A | CA472037905 | KCNQ1 | c.339C>A (p.Ile113=) c.478-12685C>A (n.478-12685C>A) c.600C>A (p.Ile200=) c.219C>A (p.Ile73=) c.124-12685C>A (n.124-12685C>A) | |
11 | g.2570750C>G | CA379130122 | KCNQ1 | c.339C>G (p.Ile113Met) c.478-12685C>G (n.478-12685C>G) c.600C>G (p.Ile200Met) c.219C>G (p.Ile73Met) c.124-12685C>G (n.124-12685C>G) | |
11 | g.2570750C>T | CA472037906 | KCNQ1 | c.339C>T (p.Ile113=) c.478-12685C>T (n.478-12685C>T) c.600C>T (p.Ile200=) c.219C>T (p.Ile73=) c.124-12685C>T (n.124-12685C>T) | |
11 | g.2570751A>C | CA379130130 | KCNQ1 | c.340A>C (p.Ile114Leu) c.478-12684A>C (n.478-12684A>C) c.601A>C (p.Ile201Leu) c.220A>C (p.Ile74Leu) c.124-12684A>C (n.124-12684A>C) | |
11 | g.2570751A>G | CA379130126 | KCNQ1 | c.340A>G (p.Ile114Val) c.478-12684A>G (n.478-12684A>G) c.601A>G (p.Ile201Val) c.220A>G (p.Ile74Val) c.124-12684A>G (n.124-12684A>G) | ClinVar |
11 | g.2570751A>T | CA379130128 | KCNQ1 | c.340A>T (p.Ile114Phe) c.478-12684A>T (n.478-12684A>T) c.601A>T (p.Ile201Phe) c.220A>T (p.Ile74Phe) c.124-12684A>T (n.124-12684A>T) | |
11 | g.2570752T>A | CA379130134 | KCNQ1 | c.341T>A (p.Ile114Asn) c.478-12683T>A (n.478-12683T>A) c.602T>A (p.Ile201Asn) c.221T>A (p.Ile74Asn) c.124-12683T>A (n.124-12683T>A) | |
11 | g.2570752T>C | CA379130137 | KCNQ1 | c.341T>C (p.Ile114Thr) c.478-12683T>C (n.478-12683T>C) c.602T>C (p.Ile201Thr) c.221T>C (p.Ile74Thr) c.124-12683T>C (n.124-12683T>C) | |
11 | g.2570752T>G | CA379130139 | KCNQ1 | c.341T>G (p.Ile114Ser) c.478-12683T>G (n.478-12683T>G) c.602T>G (p.Ile201Ser) c.221T>G (p.Ile74Ser) c.124-12683T>G (n.124-12683T>G) | |
11 | g.2570753C>A | CA472037907 | KCNQ1 | c.342C>A (p.Ile114=) c.478-12682C>A (n.478-12682C>A) c.603C>A (p.Ile201=) c.222C>A (p.Ile74=) c.124-12682C>A (n.124-12682C>A) | |
11 | g.2570753C= | CA1948240141 | KCNQ1 | c.342C= (p.Ile114=) c.478-12682C= (n.478-12682C=) c.603C= (p.Ile201=) c.222C= (p.Ile74=) c.124-12682C= (n.124-12682C=) | |
11 | g.2570753C>G | CA379130141 | KCNQ1 | c.342C>G (p.Ile114Met) c.478-12682C>G (n.478-12682C>G) c.603C>G (p.Ile201Met) c.222C>G (p.Ile74Met) c.124-12682C>G (n.124-12682C>G) | |
11 | g.2570753C>T | CA038681 | KCNQ1 | c.342C>T (p.Ile114=) c.478-12682C>T (n.478-12682C>T) c.603C>T (p.Ile201=) c.222C>T (p.Ile74=) c.124-12682C>T (n.124-12682C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570754G>A | CA007717 | KCNQ1 | c.343G>A (p.Asp115Asn) c.478-12681G>A (n.478-12681G>A) c.604G>A (p.Asp202Asn) c.223G>A (p.Asp75Asn) c.124-12681G>A (n.124-12681G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2570754G>C | CA007727 | KCNQ1 | c.343G>C (p.Asp115His) c.478-12681G>C (n.478-12681G>C) c.604G>C (p.Asp202His) c.223G>C (p.Asp75His) c.124-12681G>C (n.124-12681G>C) | ClinVar dbSNP |
11 | g.2570754G= | CA1948240380 | KCNQ1 | c.343G= (p.Asp115=) c.478-12681G= (n.478-12681G=) c.604G= (p.Asp202=) c.223G= (p.Asp75=) c.124-12681G= (n.124-12681G=) | |
11 | g.2570754G>T | CA379130150 | KCNQ1 | c.343G>T (p.Asp115Tyr) c.478-12681G>T (n.478-12681G>T) c.604G>T (p.Asp202Tyr) c.223G>T (p.Asp75Tyr) c.124-12681G>T (n.124-12681G>T) | gnomAD v4 |
11 | g.2570754_2570755insATC | CA658655516 | KCNQ1 | c.343_343+1insATC (n.343_343+1insATC) c.478-12681_478-12680insATC (n.478-12681_478-12680insATC) c.604_604+1insATC (n.604_604+1insATC) c.223_223+1insATC (n.223_223+1insATC) c.124-12681_124-12680insATC (n.124-12681_124-12680insATC) | |
11 | g.2570755G>A | CA038751 | KCNQ1 | c.343+1G>A (n.343+1G>A) c.478-12680G>A (n.478-12680G>A) c.604+1G>A (n.604+1G>A) c.223+1G>A (n.223+1G>A) c.124-12680G>A (n.124-12680G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2570755G>C | CA379130152 | KCNQ1 | c.343+1G>C (n.343+1G>C) c.478-12680G>C (n.478-12680G>C) c.604+1G>C (n.604+1G>C) c.223+1G>C (n.223+1G>C) c.124-12680G>C (n.124-12680G>C) | |
11 | g.2570755G= | CA1948240391 | KCNQ1 | c.343+1G= (n.343+1G=) c.478-12680G= (n.478-12680G=) c.604+1G= (n.604+1G=) c.223+1G= (n.223+1G=) c.124-12680G= (n.124-12680G=) | |
11 | g.2570755G>T | CA379130153 | KCNQ1 | c.343+1G>T (n.343+1G>T) c.478-12680G>T (n.478-12680G>T) c.604+1G>T (n.604+1G>T) c.223+1G>T (n.223+1G>T) c.124-12680G>T (n.124-12680G>T) | gnomAD v4 |
11 | g.2570757_2570760dup | CA934459766 | KCNQ1 | c.343+3_343+6dup (n.343+3_343+6dup) c.478-12678_478-12675dup (n.478-12678_478-12675dup) c.604+3_604+6dup (n.604+3_604+6dup) c.223+3_223+6dup (n.223+3_223+6dup) c.124-12678_124-12675dup (n.124-12678_124-12675dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2570756T>A | CA379130154 | KCNQ1 | c.343+2T>A (n.343+2T>A) c.478-12679T>A (n.478-12679T>A) c.604+2T>A (n.604+2T>A) c.223+2T>A (n.223+2T>A) c.124-12679T>A (n.124-12679T>A) | |
11 | g.2570756T>C | CA379130155 | KCNQ1 | c.343+2T>C (n.343+2T>C) c.478-12679T>C (n.478-12679T>C) c.604+2T>C (n.604+2T>C) c.223+2T>C (n.223+2T>C) c.124-12679T>C (n.124-12679T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.2570756T>G | CA379130156 | KCNQ1 | c.343+2T>G (n.343+2T>G) c.478-12679T>G (n.478-12679T>G) c.604+2T>G (n.604+2T>G) c.223+2T>G (n.223+2T>G) c.124-12679T>G (n.124-12679T>G) | |
11 | g.2570756T= | CA1948240399 | KCNQ1 | c.343+2T= (n.343+2T=) c.478-12679T= (n.478-12679T=) c.604+2T= (n.604+2T=) c.223+2T= (n.223+2T=) c.124-12679T= (n.124-12679T=) | |
11 | g.2570757G>T | CA2612002722 | KCNQ1 | c.343+3G>T (n.343+3G>T) c.478-12678G>T (n.478-12678G>T) c.604+3G>T (n.604+3G>T) c.223+3G>T (n.223+3G>T) c.124-12678G>T (n.124-12678G>T) | gnomAD v4 |