Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2588780del | CA2695212961 | KCNQ1 | c.962del (p.Val321AlafsTer26) c.779del (p.Val260AlafsTer26) c.1319del (p.Val440AlafsTer26) c.938del (p.Val313AlafsTer26) c.425del (p.Val142AlafsTer26) | |
11 | g.2588780T>A | CA379135044 | KCNQ1 | c.962T>A (p.Val321Asp) c.779T>A (p.Val260Asp) c.1319T>A (p.Val440Asp) c.938T>A (p.Val313Asp) c.425T>A (p.Val142Asp) | |
11 | g.2588780T>C | CA379135045 | KCNQ1 | c.962T>C (p.Val321Ala) c.779T>C (p.Val260Ala) c.1319T>C (p.Val440Ala) c.938T>C (p.Val313Ala) c.425T>C (p.Val142Ala) | |
11 | g.2588780T>G | CA379135046 | KCNQ1 | c.962T>G (p.Val321Gly) c.779T>G (p.Val260Gly) c.1319T>G (p.Val440Gly) c.938T>G (p.Val313Gly) c.425T>G (p.Val142Gly) | |
11 | g.2588780_2588786delinsTCCCCCA | CA1948235635 | KCNQ1 | c.962_968delinsTCCCCCA (p.Val321=) c.779_785delinsTCCCCCA (p.Val260=) c.1319_1325delinsTCCCCCA (p.Val440=) c.938_944delinsTCCCCCA (p.Val313=) c.425_431delinsTCCCCCA (p.Val142=) | |
11 | g.2588780_2588798dup | CA2580082632 | KCNQ1 | c.962_980dup (p.Glu330TyrfsTer20) c.779_797dup (p.Glu269TyrfsTer20) c.1319_1337dup (p.Glu449TyrfsTer20) c.938_956dup (p.Glu322TyrfsTer20) c.425_443dup (p.Glu151TyrfsTer20) | ClinVar |
11 | g.2588781C>A | CA028547 | KCNQ1 | c.963C>A (p.Val321=) c.780C>A (p.Val260=) c.1320C>A (p.Val440=) c.939C>A (p.Val313=) c.426C>A (p.Val142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588781C= | CA1948235647 | KCNQ1 | c.963C= (p.Val321=) c.780C= (p.Val260=) c.1320C= (p.Val440=) c.939C= (p.Val313=) c.426C= (p.Val142=) | |
11 | g.2588781C>G | CA472039838 | KCNQ1 | c.963C>G (p.Val321=) c.780C>G (p.Val260=) c.1320C>G (p.Val440=) c.939C>G (p.Val313=) c.426C>G (p.Val142=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588781C>T | CA472039837 | KCNQ1 | c.963C>T (p.Val321=) c.780C>T (p.Val260=) c.1320C>T (p.Val440=) c.939C>T (p.Val313=) c.426C>T (p.Val142=) | ClinVar dbSNP gnomAD v4 |
11 | g.2588781_2588786del | CA597432455 | KCNQ1 | c.963_968del (p.Pro322_His323del) c.780_785del (p.Pro261_His262del) c.1320_1325del (p.Pro441_His442del) c.939_944del (p.Pro314_His315del) c.426_431del (p.Pro143_His144del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588782C>A | CA379135047 | KCNQ1 | c.964C>A (p.Pro322Thr) c.781C>A (p.Pro261Thr) c.1321C>A (p.Pro441Thr) c.940C>A (p.Pro314Thr) c.427C>A (p.Pro143Thr) | |
11 | g.2588782C= | CA1948235665 | KCNQ1 | c.964C= (p.Pro322=) c.781C= (p.Pro261=) c.1321C= (p.Pro441=) c.940C= (p.Pro314=) c.427C= (p.Pro143=) | |
11 | g.2588782C>G | CA379135048 | KCNQ1 | c.964C>G (p.Pro322Ala) c.781C>G (p.Pro261Ala) c.1321C>G (p.Pro441Ala) c.940C>G (p.Pro314Ala) c.427C>G (p.Pro143Ala) | |
11 | g.2588782C>T | CA005593 | KCNQ1 | c.964C>T (p.Pro322Ser) c.781C>T (p.Pro261Ser) c.1321C>T (p.Pro441Ser) c.940C>T (p.Pro314Ser) c.427C>T (p.Pro143Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588783C>A | CA379135049 | KCNQ1 | c.965C>A (p.Pro322His) c.782C>A (p.Pro261His) c.1322C>A (p.Pro441His) c.941C>A (p.Pro314His) c.428C>A (p.Pro143His) | |
11 | g.2588783C= | CA1948235671 | KCNQ1 | c.965C= (p.Pro322=) c.782C= (p.Pro261=) c.1322C= (p.Pro441=) c.941C= (p.Pro314=) c.428C= (p.Pro143=) | |
11 | g.2588783C>G | CA379135050 | KCNQ1 | c.965C>G (p.Pro322Arg) c.782C>G (p.Pro261Arg) c.1322C>G (p.Pro441Arg) c.941C>G (p.Pro314Arg) c.428C>G (p.Pro143Arg) | |
11 | g.2588783C>T | CA379135051 | KCNQ1 | c.965C>T (p.Pro322Leu) c.782C>T (p.Pro261Leu) c.1322C>T (p.Pro441Leu) c.941C>T (p.Pro314Leu) c.428C>T (p.Pro143Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2588784C>A | CA472039845 | KCNQ1 | c.966C>A (p.Pro322=) c.783C>A (p.Pro261=) c.1323C>A (p.Pro441=) c.942C>A (p.Pro314=) c.429C>A (p.Pro143=) | ClinVar |
11 | g.2588784C= | CA1948235688 | KCNQ1 | c.966C= (p.Pro322=) c.783C= (p.Pro261=) c.1323C= (p.Pro441=) c.942C= (p.Pro314=) c.429C= (p.Pro143=) | |
11 | g.2588784C>G | CA472039843 | KCNQ1 | c.966C>G (p.Pro322=) c.783C>G (p.Pro261=) c.1323C>G (p.Pro441=) c.942C>G (p.Pro314=) c.429C>G (p.Pro143=) | |
11 | g.2588784C>T | CA028577 | KCNQ1 | c.966C>T (p.Pro322=) c.783C>T (p.Pro261=) c.1323C>T (p.Pro441=) c.942C>T (p.Pro314=) c.429C>T (p.Pro143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588785C>A | CA379135052 | KCNQ1 | c.967C>A (p.His323Asn) c.784C>A (p.His262Asn) c.1324C>A (p.His442Asn) c.943C>A (p.His315Asn) c.430C>A (p.His144Asn) | |
11 | g.2588785C= | CA1948235701 | KCNQ1 | c.967C= (p.His323=) c.784C= (p.His262=) c.1324C= (p.His442=) c.943C= (p.His315=) c.430C= (p.His144=) | |
11 | g.2588785C>G | CA216334749 | KCNQ1 | c.967C>G (p.His323Asp) c.784C>G (p.His262Asp) c.1324C>G (p.His442Asp) c.943C>G (p.His315Asp) c.430C>G (p.His144Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.2588785C>T | CA379135053 | KCNQ1 | c.967C>T (p.His323Tyr) c.784C>T (p.His262Tyr) c.1324C>T (p.His442Tyr) c.943C>T (p.His315Tyr) c.430C>T (p.His144Tyr) | |
11 | g.2588785_2588786delinsCA | CA1948235708 | KCNQ1 | c.967_968delinsCA (p.His323=) c.784_785delinsCA (p.His262=) c.1324_1325delinsCA (p.His442=) c.943_944delinsCA (p.His315=) c.430_431delinsCA (p.His144=) | |
11 | g.2588786del | CA645372890 | KCNQ1 | c.968del (p.His323LeufsTer24) c.785del (p.His262LeufsTer24) c.1325del (p.His442LeufsTer24) c.944del (p.His315LeufsTer24) c.431del (p.His144LeufsTer24) | ClinVar dbSNP |
11 | g.2588786A= | CA1948235726 | KCNQ1 | c.968A= (p.His323=) c.785A= (p.His262=) c.1325A= (p.His442=) c.944A= (p.His315=) c.431A= (p.His144=) | |
11 | g.2588786A>C | CA379135054 | KCNQ1 | c.968A>C (p.His323Pro) c.785A>C (p.His262Pro) c.1325A>C (p.His442Pro) c.944A>C (p.His315Pro) c.431A>C (p.His144Pro) | |
11 | g.2588786A>G | CA028596 | KCNQ1 | c.968A>G (p.His323Arg) c.785A>G (p.His262Arg) c.1325A>G (p.His442Arg) c.944A>G (p.His315Arg) c.431A>G (p.His144Arg) | dbSNP ExAC gnomAD v2 |
11 | g.2588786A>T | CA379135055 | KCNQ1 | c.968A>T (p.His323Leu) c.785A>T (p.His262Leu) c.1325A>T (p.His442Leu) c.944A>T (p.His315Leu) c.431A>T (p.His144Leu) | |
11 | g.2588787T>A | CA379135056 | KCNQ1 | c.969T>A (p.His323Gln) c.786T>A (p.His262Gln) c.1326T>A (p.His442Gln) c.945T>A (p.His315Gln) c.432T>A (p.His144Gln) | |
11 | g.2588787T>C | CA472039853 | KCNQ1 | c.969T>C (p.His323=) c.786T>C (p.His262=) c.1326T>C (p.His442=) c.945T>C (p.His315=) c.432T>C (p.His144=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2588787T>G | CA379135057 | KCNQ1 | c.969T>G (p.His323Gln) c.786T>G (p.His262Gln) c.1326T>G (p.His442Gln) c.945T>G (p.His315Gln) c.432T>G (p.His144Gln) | |
11 | g.2588787T= | CA1948235736 | KCNQ1 | c.969T= (p.His323=) c.786T= (p.His262=) c.1326T= (p.His442=) c.945T= (p.His315=) c.432T= (p.His144=) | |
11 | g.2588787_2588788insTTTTAATG | CA597432456 | KCNQ1 | c.969_970insTTTTAATG (p.Ile324PhefsTer2) c.786_787insTTTTAATG (p.Ile263PhefsTer2) c.1326_1327insTTTTAATG (p.Ile443PhefsTer2) c.945_946insTTTTAATG (p.Ile316PhefsTer2) c.432_433insTTTTAATG (p.Ile145PhefsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588788A= | CA1948235746 | KCNQ1 | c.970A= (p.Ile324=) c.787A= (p.Ile263=) c.1327A= (p.Ile443=) c.946A= (p.Ile316=) c.433A= (p.Ile145=) | |
11 | g.2588788A>C | CA379135058 | KCNQ1 | c.970A>C (p.Ile324Leu) c.787A>C (p.Ile263Leu) c.1327A>C (p.Ile443Leu) c.946A>C (p.Ile316Leu) c.433A>C (p.Ile145Leu) | |
11 | g.2588788A>G | CA379135060 | KCNQ1 | c.970A>G (p.Ile324Val) c.787A>G (p.Ile263Val) c.1327A>G (p.Ile443Val) c.946A>G (p.Ile316Val) c.433A>G (p.Ile145Val) | ClinVar dbSNP gnomAD v4 |
11 | g.2588788A>T | CA379135059 | KCNQ1 | c.970A>T (p.Ile324Phe) c.787A>T (p.Ile263Phe) c.1327A>T (p.Ile443Phe) c.946A>T (p.Ile316Phe) c.433A>T (p.Ile145Phe) | |
11 | g.2588789T>A | CA379135061 | KCNQ1 | c.971T>A (p.Ile324Asn) c.788T>A (p.Ile263Asn) c.1328T>A (p.Ile443Asn) c.947T>A (p.Ile316Asn) c.434T>A (p.Ile145Asn) | |
11 | g.2588789T>C | CA379135062 | KCNQ1 | c.971T>C (p.Ile324Thr) c.788T>C (p.Ile263Thr) c.1328T>C (p.Ile443Thr) c.947T>C (p.Ile316Thr) c.434T>C (p.Ile145Thr) | |
11 | g.2588789T>G | CA379135063 | KCNQ1 | c.971T>G (p.Ile324Ser) c.788T>G (p.Ile263Ser) c.1328T>G (p.Ile443Ser) c.947T>G (p.Ile316Ser) c.434T>G (p.Ile145Ser) | |
11 | g.2588789_2588790delinsTC | CA1948235752 | KCNQ1 | c.971_972delinsTC (p.Ile324=) c.788_789delinsTC (p.Ile263=) c.1328_1329delinsTC (p.Ile443=) c.947_948delinsTC (p.Ile316=) c.434_435delinsTC (p.Ile145=) | |
11 | g.2588790del | CA597432457 | KCNQ1 | c.972del (p.Thr325ArgfsTer22) c.789del (p.Thr264ArgfsTer22) c.1329del (p.Thr444ArgfsTer22) c.948del (p.Thr317ArgfsTer22) c.435del (p.Thr146ArgfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588790C>A | CA472039858 | KCNQ1 | c.972C>A (p.Ile324=) c.789C>A (p.Ile263=) c.1329C>A (p.Ile443=) c.948C>A (p.Ile316=) c.435C>A (p.Ile145=) | |
11 | g.2588790C>G | CA379135064 | KCNQ1 | c.972C>G (p.Ile324Met) c.789C>G (p.Ile263Met) c.1329C>G (p.Ile443Met) c.948C>G (p.Ile316Met) c.435C>G (p.Ile145Met) | |
11 | g.2588790C>T | CA472039861 | KCNQ1 | c.972C>T (p.Ile324=) c.789C>T (p.Ile263=) c.1329C>T (p.Ile443=) c.948C>T (p.Ile316=) c.435C>T (p.Ile145=) | gnomAD v4 |
11 | g.2588790_2588791delinsCA | CA1948235758 | KCNQ1 | c.972_973delinsCA (p.Ile324=) c.789_790delinsCA (p.Ile263=) c.1329_1330delinsCA (p.Ile443=) c.948_949delinsCA (p.Ile316=) c.435_436delinsCA (p.Ile145=) | |
11 | g.2588791del | CA913203391 | KCNQ1 | c.973del (p.Thr325ArgfsTer22) c.790del (p.Thr264ArgfsTer22) c.1330del (p.Thr444ArgfsTer22) c.949del (p.Thr317ArgfsTer22) c.436del (p.Thr146ArgfsTer22) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2588791A>C | CA379135065 | KCNQ1 | c.973A>C (p.Thr325Pro) c.790A>C (p.Thr264Pro) c.1330A>C (p.Thr444Pro) c.949A>C (p.Thr317Pro) c.436A>C (p.Thr146Pro) | |
11 | g.2588791A>G | CA379135066 | KCNQ1 | c.973A>G (p.Thr325Ala) c.790A>G (p.Thr264Ala) c.1330A>G (p.Thr444Ala) c.949A>G (p.Thr317Ala) c.436A>G (p.Thr146Ala) | |
11 | g.2588791A>T | CA379135067 | KCNQ1 | c.973A>T (p.Thr325Ser) c.790A>T (p.Thr264Ser) c.1330A>T (p.Thr444Ser) c.949A>T (p.Thr317Ser) c.436A>T (p.Thr146Ser) | |
11 | g.2588792C>A | CA028614 | KCNQ1 | c.974C>A (p.Thr325Lys) c.791C>A (p.Thr264Lys) c.1331C>A (p.Thr444Lys) c.950C>A (p.Thr317Lys) c.437C>A (p.Thr146Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588792C= | CA1948235766 | KCNQ1 | c.974C= (p.Thr325=) c.791C= (p.Thr264=) c.1331C= (p.Thr444=) c.950C= (p.Thr317=) c.437C= (p.Thr146=) | |
11 | g.2588792C>G | CA379135068 | KCNQ1 | c.974C>G (p.Thr325Arg) c.791C>G (p.Thr264Arg) c.1331C>G (p.Thr444Arg) c.950C>G (p.Thr317Arg) c.437C>G (p.Thr146Arg) | |
11 | g.2588792C>T | CA028637 | KCNQ1 | c.974C>T (p.Thr325Met) c.791C>T (p.Thr264Met) c.1331C>T (p.Thr444Met) c.950C>T (p.Thr317Met) c.437C>T (p.Thr146Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588793G>A | CA028654 | KCNQ1 | c.975G>A (p.Thr325=) c.792G>A (p.Thr264=) c.1332G>A (p.Thr444=) c.951G>A (p.Thr317=) c.438G>A (p.Thr146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2588793G>C | CA472039867 | KCNQ1 | c.975G>C (p.Thr325=) c.792G>C (p.Thr264=) c.1332G>C (p.Thr444=) c.951G>C (p.Thr317=) c.438G>C (p.Thr146=) | |
11 | g.2588793G= | CA1948235777 | KCNQ1 | c.975G= (p.Thr325=) c.792G= (p.Thr264=) c.1332G= (p.Thr444=) c.951G= (p.Thr317=) c.438G= (p.Thr146=) | |
11 | g.2588793G>T | CA028671 | KCNQ1 | c.975G>T (p.Thr325=) c.792G>T (p.Thr264=) c.1332G>T (p.Thr444=) c.951G>T (p.Thr317=) c.438G>T (p.Thr146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.2588794del | CA597432458 | KCNQ1 | c.976del (p.Cys326AlafsTer21) c.793del (p.Cys265AlafsTer21) c.1333del (p.Cys445AlafsTer21) c.952del (p.Cys318AlafsTer21) c.439del (p.Cys147AlafsTer21) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588794T>A | CA379135071 | KCNQ1 | c.976T>A (p.Cys326Ser) c.793T>A (p.Cys265Ser) c.1333T>A (p.Cys445Ser) c.952T>A (p.Cys318Ser) c.439T>A (p.Cys147Ser) | |
11 | g.2588794T>C | CA379135069 | KCNQ1 | c.976T>C (p.Cys326Arg) c.793T>C (p.Cys265Arg) c.1333T>C (p.Cys445Arg) c.952T>C (p.Cys318Arg) c.439T>C (p.Cys147Arg) | |
11 | g.2588794T>G | CA379135070 | KCNQ1 | c.976T>G (p.Cys326Gly) c.793T>G (p.Cys265Gly) c.1333T>G (p.Cys445Gly) c.952T>G (p.Cys318Gly) c.439T>G (p.Cys147Gly) | dbSNP |
11 | g.2588794T= | CA1948235790 | KCNQ1 | c.976T= (p.Cys326=) c.793T= (p.Cys265=) c.1333T= (p.Cys445=) c.952T= (p.Cys318=) c.439T= (p.Cys147=) | |
11 | g.2588795G>A | CA379135072 | KCNQ1 | c.977G>A (p.Cys326Tyr) c.794G>A (p.Cys265Tyr) c.1334G>A (p.Cys445Tyr) c.953G>A (p.Cys318Tyr) c.440G>A (p.Cys147Tyr) | |
11 | g.2588795G>C | CA379135073 | KCNQ1 | c.977G>C (p.Cys326Ser) c.794G>C (p.Cys265Ser) c.1334G>C (p.Cys445Ser) c.953G>C (p.Cys318Ser) c.440G>C (p.Cys147Ser) | |
11 | g.2588795G>T | CA379135074 | KCNQ1 | c.977G>T (p.Cys326Phe) c.794G>T (p.Cys265Phe) c.1334G>T (p.Cys445Phe) c.953G>T (p.Cys318Phe) c.440G>T (p.Cys147Phe) | |
11 | g.2588796C>A | CA379135075 | KCNQ1 | c.978C>A (p.Cys326Ter) c.795C>A (p.Cys265Ter) c.1335C>A (p.Cys445Ter) c.954C>A (p.Cys318Ter) c.441C>A (p.Cys147Ter) | |
11 | g.2588796C= | CA1948235795 | KCNQ1 | c.978C= (p.Cys326=) c.795C= (p.Cys265=) c.1335C= (p.Cys445=) c.954C= (p.Cys318=) c.441C= (p.Cys147=) | |
11 | g.2588796C>G | CA379135076 | KCNQ1 | c.978C>G (p.Cys326Trp) c.795C>G (p.Cys265Trp) c.1335C>G (p.Cys445Trp) c.954C>G (p.Cys318Trp) c.441C>G (p.Cys147Trp) | |
11 | g.2588796C>T | CA216334845 | KCNQ1 | c.978C>T (p.Cys326=) c.795C>T (p.Cys265=) c.1335C>T (p.Cys445=) c.954C>T (p.Cys318=) c.441C>T (p.Cys147=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588797G>A | CA005599 | KCNQ1 | c.979G>A (p.Asp327Asn) c.796G>A (p.Asp266Asn) c.1336G>A (p.Asp446Asn) c.955G>A (p.Asp319Asn) c.442G>A (p.Asp148Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588797G>C | CA379135077 | KCNQ1 | c.979G>C (p.Asp327His) c.796G>C (p.Asp266His) c.1336G>C (p.Asp446His) c.955G>C (p.Asp319His) c.442G>C (p.Asp148His) | |
11 | g.2588797G= | CA1948235804 | KCNQ1 | c.979G= (p.Asp327=) c.796G= (p.Asp266=) c.1336G= (p.Asp446=) c.955G= (p.Asp319=) c.442G= (p.Asp148=) | |
11 | g.2588797G>T | CA379135078 | KCNQ1 | c.979G>T (p.Asp327Tyr) c.796G>T (p.Asp266Tyr) c.1336G>T (p.Asp446Tyr) c.955G>T (p.Asp319Tyr) c.442G>T (p.Asp148Tyr) | |
11 | g.2588798A>C | CA379135079 | KCNQ1 | c.980A>C (p.Asp327Ala) c.797A>C (p.Asp266Ala) c.1337A>C (p.Asp446Ala) c.956A>C (p.Asp319Ala) c.443A>C (p.Asp148Ala) | |
11 | g.2588798A>G | CA379135080 | KCNQ1 | c.980A>G (p.Asp327Gly) c.797A>G (p.Asp266Gly) c.1337A>G (p.Asp446Gly) c.956A>G (p.Asp319Gly) c.443A>G (p.Asp148Gly) | ClinVar |
11 | g.2588798A>T | CA379135081 | KCNQ1 | c.980A>T (p.Asp327Val) c.797A>T (p.Asp266Val) c.1337A>T (p.Asp446Val) c.956A>T (p.Asp319Val) c.443A>T (p.Asp148Val) | |
11 | g.2588798_2588799delinsAC | CA1948235810 | KCNQ1 | c.980_981delinsAC (p.Asp327=) c.797_798delinsAC (p.Asp266=) c.1337_1338delinsAC (p.Asp446=) c.956_957delinsAC (p.Asp319=) c.443_444delinsAC (p.Asp148=) | |
11 | g.2588799C>A | CA379135082 | KCNQ1 | c.981C>A (p.Asp327Glu) c.798C>A (p.Asp266Glu) c.1338C>A (p.Asp446Glu) c.957C>A (p.Asp319Glu) c.444C>A (p.Asp148Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588799C= | CA1948235831 | KCNQ1 | c.981C= (p.Asp327=) c.798C= (p.Asp266=) c.1338C= (p.Asp446=) c.957C= (p.Asp319=) c.444C= (p.Asp148=) | |
11 | g.2588799C>G | CA005607 | KCNQ1 | c.981C>G (p.Asp327Glu) c.798C>G (p.Asp266Glu) c.1338C>G (p.Asp446Glu) c.957C>G (p.Asp319Glu) c.444C>G (p.Asp148Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588799C>T | CA472039881 | KCNQ1 | c.981C>T (p.Asp327=) c.798C>T (p.Asp266=) c.1338C>T (p.Asp446=) c.957C>T (p.Asp319=) c.444C>T (p.Asp148=) | |
11 | g.2588804dup | CA005612 | KCNQ1 | c.986dup (p.Glu330ArgfsTer14) c.803dup (p.Glu269ArgfsTer14) c.1343dup (p.Glu449ArgfsTer14) c.962dup (p.Glu322ArgfsTer14) c.449dup (p.Glu151ArgfsTer14) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588804del | CA005637 | KCNQ1 | c.986del (p.Pro329GlnfsTer18) c.803del (p.Pro268GlnfsTer18) c.1343del (p.Pro448GlnfsTer18) c.962del (p.Pro321GlnfsTer18) c.449del (p.Pro150GlnfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588800C>A | CA379135083 | KCNQ1 | c.982C>A (p.Pro328Thr) c.799C>A (p.Pro267Thr) c.1339C>A (p.Pro447Thr) c.958C>A (p.Pro320Thr) c.445C>A (p.Pro149Thr) | gnomAD v4 |
11 | g.2588800C>G | CA379135084 | KCNQ1 | c.982C>G (p.Pro328Ala) c.799C>G (p.Pro267Ala) c.1339C>G (p.Pro447Ala) c.958C>G (p.Pro320Ala) c.445C>G (p.Pro149Ala) | |
11 | g.2588800C>T | CA379135085 | KCNQ1 | c.982C>T (p.Pro328Ser) c.799C>T (p.Pro267Ser) c.1339C>T (p.Pro447Ser) c.958C>T (p.Pro320Ser) c.445C>T (p.Pro149Ser) | |
11 | g.2588801C>A | CA028729 | KCNQ1 | c.983C>A (p.Pro328His) c.800C>A (p.Pro267His) c.1340C>A (p.Pro447His) c.959C>A (p.Pro320His) c.446C>A (p.Pro149His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588801C= | CA1948236048 | KCNQ1 | c.983C= (p.Pro328=) c.800C= (p.Pro267=) c.1340C= (p.Pro447=) c.959C= (p.Pro320=) c.446C= (p.Pro149=) | |
11 | g.2588801C>G | CA379135086 | KCNQ1 | c.983C>G (p.Pro328Arg) c.800C>G (p.Pro267Arg) c.1340C>G (p.Pro447Arg) c.959C>G (p.Pro320Arg) c.446C>G (p.Pro149Arg) | |
11 | g.2588801C>T | CA379135087 | KCNQ1 | c.983C>T (p.Pro328Leu) c.800C>T (p.Pro267Leu) c.1340C>T (p.Pro447Leu) c.959C>T (p.Pro320Leu) c.446C>T (p.Pro149Leu) | |
11 | g.2588802C>A | CA472039887 | KCNQ1 | c.984C>A (p.Pro328=) c.801C>A (p.Pro267=) c.1341C>A (p.Pro447=) c.960C>A (p.Pro320=) c.447C>A (p.Pro149=) | gnomAD v4 |
11 | g.2588802C= | CA1948236061 | KCNQ1 | c.984C= (p.Pro328=) c.801C= (p.Pro267=) c.1341C= (p.Pro447=) c.960C= (p.Pro320=) c.447C= (p.Pro149=) | |
11 | g.2588802C>G | CA472039889 | KCNQ1 | c.984C>G (p.Pro328=) c.801C>G (p.Pro267=) c.1341C>G (p.Pro447=) c.960C>G (p.Pro320=) c.447C>G (p.Pro149=) | |
11 | g.2588802C>T | CA028744 | KCNQ1 | c.984C>T (p.Pro328=) c.801C>T (p.Pro267=) c.1341C>T (p.Pro447=) c.960C>T (p.Pro320=) c.447C>T (p.Pro149=) | ClinVar dbSNP ExAC COSMIC COSMIC |
11 | g.2588803C>A | CA379135088 | KCNQ1 | c.985C>A (p.Pro329Thr) c.802C>A (p.Pro268Thr) c.1342C>A (p.Pro448Thr) c.961C>A (p.Pro321Thr) c.448C>A (p.Pro150Thr) | |
11 | g.2588803C= | CA1948236075 | KCNQ1 | c.985C= (p.Pro329=) c.802C= (p.Pro268=) c.1342C= (p.Pro448=) c.961C= (p.Pro321=) c.448C= (p.Pro150=) | |
11 | g.2588803C>G | CA379135089 | KCNQ1 | c.985C>G (p.Pro329Ala) c.802C>G (p.Pro268Ala) c.1342C>G (p.Pro448Ala) c.961C>G (p.Pro321Ala) c.448C>G (p.Pro150Ala) | |
11 | g.2588803C>T | CA028757 | KCNQ1 | c.985C>T (p.Pro329Ser) c.802C>T (p.Pro268Ser) c.1342C>T (p.Pro448Ser) c.961C>T (p.Pro321Ser) c.448C>T (p.Pro150Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588804C>A | CA028774 | KCNQ1 | c.986C>A (p.Pro329Gln) c.803C>A (p.Pro268Gln) c.1343C>A (p.Pro448Gln) c.962C>A (p.Pro321Gln) c.449C>A (p.Pro150Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588804C= | CA1948236092 | KCNQ1 | c.986C= (p.Pro329=) c.803C= (p.Pro268=) c.1343C= (p.Pro448=) c.962C= (p.Pro321=) c.449C= (p.Pro150=) | |
11 | g.2588804C>G | CA005620 | KCNQ1 | c.986C>G (p.Pro329Arg) c.803C>G (p.Pro268Arg) c.1343C>G (p.Pro448Arg) c.962C>G (p.Pro321Arg) c.449C>G (p.Pro150Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588804C>T | CA005629 | KCNQ1 | c.986C>T (p.Pro329Leu) c.803C>T (p.Pro268Leu) c.1343C>T (p.Pro448Leu) c.962C>T (p.Pro321Leu) c.449C>T (p.Pro150Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588805A= | CA1948236108 | KCNQ1 | c.987A= (p.Pro329=) c.804A= (p.Pro268=) c.1344A= (p.Pro448=) c.963A= (p.Pro321=) c.450A= (p.Pro150=) | |
11 | g.2588805A>C | CA472039894 | KCNQ1 | c.987A>C (p.Pro329=) c.804A>C (p.Pro268=) c.1344A>C (p.Pro448=) c.963A>C (p.Pro321=) c.450A>C (p.Pro150=) | |
11 | g.2588805A>G | CA472039896 | KCNQ1 | c.987A>G (p.Pro329=) c.804A>G (p.Pro268=) c.1344A>G (p.Pro448=) c.963A>G (p.Pro321=) c.450A>G (p.Pro150=) | |
11 | g.2588805A>T | CA472039897 | KCNQ1 | c.987A>T (p.Pro329=) c.804A>T (p.Pro268=) c.1344A>T (p.Pro448=) c.963A>T (p.Pro321=) c.450A>T (p.Pro150=) | |
11 | g.2588805dup | CA1948236104 | KCNQ1 | c.987dup (p.Glu330ArgfsTer14) c.804dup (p.Glu269ArgfsTer14) c.1344dup (p.Glu449ArgfsTer14) c.963dup (p.Glu322ArgfsTer14) c.450dup (p.Glu151ArgfsTer14) | ClinVar dbSNP gnomAD v4 |
11 | g.2588806G>A | CA028825 | KCNQ1 | c.988G>A (p.Glu330Lys) c.805G>A (p.Glu269Lys) c.1345G>A (p.Glu449Lys) c.964G>A (p.Glu322Lys) c.451G>A (p.Glu151Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2588806G>C | CA379135090 | KCNQ1 | c.988G>C (p.Glu330Gln) c.805G>C (p.Glu269Gln) c.1345G>C (p.Glu449Gln) c.964G>C (p.Glu322Gln) c.451G>C (p.Glu151Gln) | |
11 | g.2588806G= | CA1948236121 | KCNQ1 | c.988G= (p.Glu330=) c.805G= (p.Glu269=) c.1345G= (p.Glu449=) c.964G= (p.Glu322=) c.451G= (p.Glu151=) | |
11 | g.2588806G>T | CA379135091 | KCNQ1 | c.988G>T (p.Glu330Ter) c.805G>T (p.Glu269Ter) c.1345G>T (p.Glu449Ter) c.964G>T (p.Glu322Ter) c.451G>T (p.Glu151Ter) | gnomAD v4 |
11 | g.2588806dup | CA005648 | KCNQ1 | c.988dup (p.Glu330GlyfsTer14) c.805dup (p.Glu269GlyfsTer14) c.1345dup (p.Glu449GlyfsTer14) c.964dup (p.Glu322GlyfsTer14) c.451dup (p.Glu151GlyfsTer14) | ClinVar dbSNP |
11 | g.2588807A>C | CA379135092 | KCNQ1 | c.989A>C (p.Glu330Ala) c.806A>C (p.Glu269Ala) c.1346A>C (p.Glu449Ala) c.965A>C (p.Glu322Ala) c.452A>C (p.Glu151Ala) | |
11 | g.2588807A>G | CA379135093 | KCNQ1 | c.989A>G (p.Glu330Gly) c.806A>G (p.Glu269Gly) c.1346A>G (p.Glu449Gly) c.965A>G (p.Glu322Gly) c.452A>G (p.Glu151Gly) | |
11 | g.2588807A>T | CA379135094 | KCNQ1 | c.989A>T (p.Glu330Val) c.806A>T (p.Glu269Val) c.1346A>T (p.Glu449Val) c.965A>T (p.Glu322Val) c.452A>T (p.Glu151Val) | |
11 | g.2588808A>C | CA379135095 | KCNQ1 | c.990A>C (p.Glu330Asp) c.807A>C (p.Glu269Asp) c.1347A>C (p.Glu449Asp) c.966A>C (p.Glu322Asp) c.453A>C (p.Glu151Asp) | |
11 | g.2588808A>G | CA472039903 | KCNQ1 | c.990A>G (p.Glu330=) c.807A>G (p.Glu269=) c.1347A>G (p.Glu449=) c.966A>G (p.Glu322=) c.453A>G (p.Glu151=) | gnomAD v4 |
11 | g.2588808A>T | CA379135096 | KCNQ1 | c.990A>T (p.Glu330Asp) c.807A>T (p.Glu269Asp) c.1347A>T (p.Glu449Asp) c.966A>T (p.Glu322Asp) c.453A>T (p.Glu151Asp) | |
11 | g.2588809G>A | CA028841 | KCNQ1 | c.991G>A (p.Glu331Lys) c.808G>A (p.Glu270Lys) c.1348G>A (p.Glu450Lys) c.967G>A (p.Glu323Lys) c.454G>A (p.Glu152Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588809G>C | CA379135097 | KCNQ1 | c.991G>C (p.Glu331Gln) c.808G>C (p.Glu270Gln) c.1348G>C (p.Glu450Gln) c.967G>C (p.Glu323Gln) c.454G>C (p.Glu152Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.2588809G= | CA1948236131 | KCNQ1 | c.991G= (p.Glu331=) c.808G= (p.Glu270=) c.1348G= (p.Glu450=) c.967G= (p.Glu323=) c.454G= (p.Glu152=) | |
11 | g.2588809G>T | CA379135098 | KCNQ1 | c.991G>T (p.Glu331Ter) c.808G>T (p.Glu270Ter) c.1348G>T (p.Glu450Ter) c.967G>T (p.Glu323Ter) c.454G>T (p.Glu152Ter) | |
11 | g.2588810A= | CA1948236135 | KCNQ1 | c.992A= (p.Glu331=) c.809A= (p.Glu270=) c.1349A= (p.Glu450=) c.968A= (p.Glu323=) c.455A= (p.Glu152=) | |
11 | g.2588810A>C | CA379135099 | KCNQ1 | c.992A>C (p.Glu331Ala) c.809A>C (p.Glu270Ala) c.1349A>C (p.Glu450Ala) c.968A>C (p.Glu323Ala) c.455A>C (p.Glu152Ala) | |
11 | g.2588810A>G | CA16043459 | KCNQ1 | c.992A>G (p.Glu331Gly) c.809A>G (p.Glu270Gly) c.1349A>G (p.Glu450Gly) c.968A>G (p.Glu323Gly) c.455A>G (p.Glu152Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.2588810A>T | CA379135100 | KCNQ1 | c.992A>T (p.Glu331Val) c.809A>T (p.Glu270Val) c.1349A>T (p.Glu450Val) c.968A>T (p.Glu323Val) c.455A>T (p.Glu152Val) | |
11 | g.2588811G>A | CA028851 | KCNQ1 | c.993G>A (p.Glu331=) c.810G>A (p.Glu270=) c.1350G>A (p.Glu450=) c.969G>A (p.Glu323=) c.456G>A (p.Glu152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588811G>C | CA379135102 | KCNQ1 | c.993G>C (p.Glu331Asp) c.810G>C (p.Glu270Asp) c.1350G>C (p.Glu450Asp) c.969G>C (p.Glu323Asp) c.456G>C (p.Glu152Asp) | |
11 | g.2588811G= | CA1948236150 | KCNQ1 | c.993G= (p.Glu331=) c.810G= (p.Glu270=) c.1350G= (p.Glu450=) c.969G= (p.Glu323=) c.456G= (p.Glu152=) | |
11 | g.2588811G>T | CA379135101 | KCNQ1 | c.993G>T (p.Glu331Asp) c.810G>T (p.Glu270Asp) c.1350G>T (p.Glu450Asp) c.969G>T (p.Glu323Asp) c.456G>T (p.Glu152Asp) | |
11 | g.2588812C>A | CA472039912 | KCNQ1 | c.994C>A (p.Arg332=) c.811C>A (p.Arg271=) c.1351C>A (p.Arg451=) c.970C>A (p.Arg324=) c.457C>A (p.Arg153=) | |
11 | g.2588812C= | CA1948236159 | KCNQ1 | c.994C= (p.Arg332=) c.811C= (p.Arg271=) c.1351C= (p.Arg451=) c.970C= (p.Arg324=) c.457C= (p.Arg153=) | |
11 | g.2588812C>G | CA379135103 | KCNQ1 | c.994C>G (p.Arg332Gly) c.811C>G (p.Arg271Gly) c.1351C>G (p.Arg451Gly) c.970C>G (p.Arg324Gly) c.457C>G (p.Arg153Gly) | |
11 | g.2588812C>T | CA005661 | KCNQ1 | c.994C>T (p.Arg332Trp) c.811C>T (p.Arg271Trp) c.1351C>T (p.Arg451Trp) c.970C>T (p.Arg324Trp) c.457C>T (p.Arg153Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2588813G>A | CA005664 | KCNQ1 | c.995G>A (p.Arg332Gln) c.812G>A (p.Arg271Gln) c.1352G>A (p.Arg451Gln) c.971G>A (p.Arg324Gln) c.458G>A (p.Arg153Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588813G>C | CA379135104 | KCNQ1 | c.995G>C (p.Arg332Pro) c.812G>C (p.Arg271Pro) c.1352G>C (p.Arg451Pro) c.971G>C (p.Arg324Pro) c.458G>C (p.Arg153Pro) | |
11 | g.2588813G= | CA1948236171 | KCNQ1 | c.995G= (p.Arg332=) c.812G= (p.Arg271=) c.1352G= (p.Arg451=) c.971G= (p.Arg324=) c.458G= (p.Arg153=) | |
11 | g.2588813G>T | CA379135105 | KCNQ1 | c.995G>T (p.Arg332Leu) c.812G>T (p.Arg271Leu) c.1352G>T (p.Arg451Leu) c.971G>T (p.Arg324Leu) c.458G>T (p.Arg153Leu) | |
11 | g.2588814G>A | CA472039920 | KCNQ1 | c.996G>A (p.Arg332=) c.813G>A (p.Arg271=) c.1353G>A (p.Arg451=) c.972G>A (p.Arg324=) c.459G>A (p.Arg153=) | |
11 | g.2588814G>C | CA472039917 | KCNQ1 | c.996G>C (p.Arg332=) c.813G>C (p.Arg271=) c.1353G>C (p.Arg451=) c.972G>C (p.Arg324=) c.459G>C (p.Arg153=) | |
11 | g.2588814G>T | CA472039918 | KCNQ1 | c.996G>T (p.Arg332=) c.813G>T (p.Arg271=) c.1353G>T (p.Arg451=) c.972G>T (p.Arg324=) c.459G>T (p.Arg153=) | |
11 | g.2588815del | CA2573146072 | KCNQ1 | c.997del (p.Arg333GlyfsTer14) c.814del (p.Arg272GlyfsTer14) c.1354del (p.Arg452GlyfsTer14) c.973del (p.Arg325GlyfsTer14) c.460del (p.Arg154GlyfsTer14) | ClinVar dbSNP |
11 | g.2588815C>A | CA472039922 | KCNQ1 | c.997C>A (p.Arg333=) c.814C>A (p.Arg272=) c.1354C>A (p.Arg452=) c.973C>A (p.Arg325=) c.460C>A (p.Arg154=) | |
11 | g.2588815C= | CA1948236179 | KCNQ1 | c.997C= (p.Arg333=) c.814C= (p.Arg272=) c.1354C= (p.Arg452=) c.973C= (p.Arg325=) c.460C= (p.Arg154=) | |
11 | g.2588815C>G | CA379135106 | KCNQ1 | c.997C>G (p.Arg333Gly) c.814C>G (p.Arg272Gly) c.1354C>G (p.Arg452Gly) c.973C>G (p.Arg325Gly) c.460C>G (p.Arg154Gly) | |
11 | g.2588815C>T | CA005672 | KCNQ1 | c.997C>T (p.Arg333Trp) c.814C>T (p.Arg272Trp) c.1354C>T (p.Arg452Trp) c.973C>T (p.Arg325Trp) c.460C>T (p.Arg154Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588815_2588816delinsCG | CA1948236182 | KCNQ1 | c.997_998delinsCG (p.Arg333=) c.814_815delinsCG (p.Arg272=) c.1354_1355delinsCG (p.Arg452=) c.973_974delinsCG (p.Arg325=) c.460_461delinsCG (p.Arg154=) | |
11 | g.2588816G>A | CA005679 | KCNQ1 | c.998G>A (p.Arg333Gln) c.815G>A (p.Arg272Gln) c.1355G>A (p.Arg452Gln) c.974G>A (p.Arg325Gln) c.461G>A (p.Arg154Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588816G>C | CA379135107 | KCNQ1 | c.998G>C (p.Arg333Pro) c.815G>C (p.Arg272Pro) c.1355G>C (p.Arg452Pro) c.974G>C (p.Arg325Pro) c.461G>C (p.Arg154Pro) | |
11 | g.2588816G= | CA1948236204 | KCNQ1 | c.998G= (p.Arg333=) c.815G= (p.Arg272=) c.1355G= (p.Arg452=) c.974G= (p.Arg325=) c.461G= (p.Arg154=) | |
11 | g.2588816G>T | CA005686 | KCNQ1 | c.998G>T (p.Arg333Leu) c.815G>T (p.Arg272Leu) c.1355G>T (p.Arg452Leu) c.974G>T (p.Arg325Leu) c.461G>T (p.Arg154Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588817del | CA913188346 | KCNQ1 | c.999del (p.Leu334TrpfsTer13) c.816del (p.Leu273TrpfsTer13) c.1356del (p.Leu453TrpfsTer13) c.975del (p.Leu326TrpfsTer13) c.462del (p.Leu155TrpfsTer13) | ClinVar dbSNP |
11 | g.2588817G>A | CA472039925 | KCNQ1 | c.999G>A (p.Arg333=) c.816G>A (p.Arg272=) c.1356G>A (p.Arg452=) c.975G>A (p.Arg325=) c.462G>A (p.Arg154=) | ClinVar dbSNP |
11 | g.2588817G>C | CA472039927 | KCNQ1 | c.999G>C (p.Arg333=) c.816G>C (p.Arg272=) c.1356G>C (p.Arg452=) c.975G>C (p.Arg325=) c.462G>C (p.Arg154=) | |
11 | g.2588817G= | CA1948236217 | KCNQ1 | c.999G= (p.Arg333=) c.816G= (p.Arg272=) c.1356G= (p.Arg452=) c.975G= (p.Arg325=) c.462G= (p.Arg154=) | |
11 | g.2588817G>T | CA028913 | KCNQ1 | c.999G>T (p.Arg333=) c.816G>T (p.Arg272=) c.1356G>T (p.Arg452=) c.975G>T (p.Arg325=) c.462G>T (p.Arg154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588818C>A | CA379135108 | KCNQ1 | c.1000C>A (p.Leu334Met) c.817C>A (p.Leu273Met) c.1357C>A (p.Leu453Met) c.976C>A (p.Leu326Met) c.463C>A (p.Leu155Met) | |
11 | g.2588818C= | CA1948236228 | KCNQ1 | c.1000C= (p.Leu334=) c.817C= (p.Leu273=) c.1357C= (p.Leu453=) c.976C= (p.Leu326=) c.463C= (p.Leu155=) | |
11 | g.2588818C>G | CA379135109 | KCNQ1 | c.1000C>G (p.Leu334Val) c.817C>G (p.Leu273Val) c.1357C>G (p.Leu453Val) c.976C>G (p.Leu326Val) c.463C>G (p.Leu155Val) | dbSNP |
11 | g.2588818C>T | CA472039930 | KCNQ1 | c.1000C>T (p.Leu334=) c.817C>T (p.Leu273=) c.1357C>T (p.Leu453=) c.976C>T (p.Leu326=) c.463C>T (p.Leu155=) | |
11 | g.2588819T>A | CA379135112 | KCNQ1 | c.1001T>A (p.Leu334Gln) c.818T>A (p.Leu273Gln) c.1358T>A (p.Leu453Gln) c.977T>A (p.Leu326Gln) c.464T>A (p.Leu155Gln) | |
11 | g.2588819T>C | CA379135111 | KCNQ1 | c.1001T>C (p.Leu334Pro) c.818T>C (p.Leu273Pro) c.1358T>C (p.Leu453Pro) c.977T>C (p.Leu326Pro) c.464T>C (p.Leu155Pro) | dbSNP gnomAD v4 |
11 | g.2588819T>G | CA379135110 | KCNQ1 | c.1001T>G (p.Leu334Arg) c.818T>G (p.Leu273Arg) c.1358T>G (p.Leu453Arg) c.977T>G (p.Leu326Arg) c.464T>G (p.Leu155Arg) | dbSNP |
11 | g.2588819T= | CA1948236231 | KCNQ1 | c.1001T= (p.Leu334=) c.818T= (p.Leu273=) c.1358T= (p.Leu453=) c.977T= (p.Leu326=) c.464T= (p.Leu155=) | |
11 | g.2588820G>A | CA472039935 | KCNQ1 | c.1002G>A (p.Leu334=) c.819G>A (p.Leu273=) c.1359G>A (p.Leu453=) c.978G>A (p.Leu326=) c.465G>A (p.Leu155=) | ClinVar |
11 | g.2588820G>C | CA472039936 | KCNQ1 | c.1002G>C (p.Leu334=) c.819G>C (p.Leu273=) c.1359G>C (p.Leu453=) c.978G>C (p.Leu326=) c.465G>C (p.Leu155=) | |
11 | g.2588820G>T | CA472039938 | KCNQ1 | c.1002G>T (p.Leu334=) c.819G>T (p.Leu273=) c.1359G>T (p.Leu453=) c.978G>T (p.Leu326=) c.465G>T (p.Leu155=) | |
11 | g.2588821_2588836del | CA2695212962 | KCNQ1 | c.1003_1018del (p.Asp335ThrfsTer7) c.820_835del (p.Asp274ThrfsTer7) c.1360_1375del (p.Asp454ThrfsTer7) c.979_994del (p.Asp327ThrfsTer7) c.466_481del (p.Asp156ThrfsTer7) | |
11 | g.2588821G>A | CA379135113 | KCNQ1 | c.1003G>A (p.Asp335Asn) c.820G>A (p.Asp274Asn) c.1360G>A (p.Asp454Asn) c.979G>A (p.Asp327Asn) c.466G>A (p.Asp156Asn) | |
11 | g.2588821G>C | CA379135114 | KCNQ1 | c.1003G>C (p.Asp335His) c.820G>C (p.Asp274His) c.1360G>C (p.Asp454His) c.979G>C (p.Asp327His) c.466G>C (p.Asp156His) | |
11 | g.2588821G>T | CA379135115 | KCNQ1 | c.1003G>T (p.Asp335Tyr) c.820G>T (p.Asp274Tyr) c.1360G>T (p.Asp454Tyr) c.979G>T (p.Asp327Tyr) c.466G>T (p.Asp156Tyr) | |
11 | g.2588822A= | CA1948236238 | KCNQ1 | c.1004A= (p.Asp335=) c.821A= (p.Asp274=) c.1361A= (p.Asp454=) c.980A= (p.Asp327=) c.467A= (p.Asp156=) | |
11 | g.2588822A>C | CA379135116 | KCNQ1 | c.1004A>C (p.Asp335Ala) c.821A>C (p.Asp274Ala) c.1361A>C (p.Asp454Ala) c.980A>C (p.Asp327Ala) c.467A>C (p.Asp156Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2588822A>G | CA379135117 | KCNQ1 | c.1004A>G (p.Asp335Gly) c.821A>G (p.Asp274Gly) c.1361A>G (p.Asp454Gly) c.980A>G (p.Asp327Gly) c.467A>G (p.Asp156Gly) | dbSNP |
11 | g.2588822A>T | CA379135118 | KCNQ1 | c.1004A>T (p.Asp335Val) c.821A>T (p.Asp274Val) c.1361A>T (p.Asp454Val) c.980A>T (p.Asp327Val) c.467A>T (p.Asp156Val) | |
11 | g.2588823C>A | CA379135119 | KCNQ1 | c.1005C>A (p.Asp335Glu) c.822C>A (p.Asp274Glu) c.1362C>A (p.Asp454Glu) c.981C>A (p.Asp327Glu) c.468C>A (p.Asp156Glu) | |
11 | g.2588823C>G | CA379135120 | KCNQ1 | c.1005C>G (p.Asp335Glu) c.822C>G (p.Asp274Glu) c.1362C>G (p.Asp454Glu) c.981C>G (p.Asp327Glu) c.468C>G (p.Asp156Glu) | |
11 | g.2588823C>T | CA472039943 | KCNQ1 | c.1005C>T (p.Asp335=) c.822C>T (p.Asp274=) c.1362C>T (p.Asp454=) c.981C>T (p.Asp327=) c.468C>T (p.Asp156=) | |
11 | g.2588824C>A | CA379135121 | KCNQ1 | c.1006C>A (p.His336Asn) c.823C>A (p.His275Asn) c.1363C>A (p.His455Asn) c.982C>A (p.His328Asn) c.469C>A (p.His157Asn) | |
11 | g.2588824C= | CA1948236247 | KCNQ1 | c.1006C= (p.His336=) c.823C= (p.His275=) c.1363C= (p.His455=) c.982C= (p.His328=) c.469C= (p.His157=) | |
11 | g.2588824C>G | CA379135122 | KCNQ1 | c.1006C>G (p.His336Asp) c.823C>G (p.His275Asp) c.1363C>G (p.His455Asp) c.982C>G (p.His328Asp) c.469C>G (p.His157Asp) | |
11 | g.2588824C>T | CA005693 | KCNQ1 | c.1006C>T (p.His336Tyr) c.823C>T (p.His275Tyr) c.1363C>T (p.His455Tyr) c.982C>T (p.His328Tyr) c.469C>T (p.His157Tyr) | ClinVar dbSNP |
11 | g.2588825A= | CA1948236257 | KCNQ1 | c.1007A= (p.His336=) c.824A= (p.His275=) c.1364A= (p.His455=) c.983A= (p.His328=) c.470A= (p.His157=) | |
11 | g.2588825A>C | CA379135124 | KCNQ1 | c.1007A>C (p.His336Pro) c.824A>C (p.His275Pro) c.1364A>C (p.His455Pro) c.983A>C (p.His328Pro) c.470A>C (p.His157Pro) | |
11 | g.2588825A>G | CA028944 | KCNQ1 | c.1007A>G (p.His336Arg) c.824A>G (p.His275Arg) c.1364A>G (p.His455Arg) c.983A>G (p.His328Arg) c.470A>G (p.His157Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588825A>T | CA379135125 | KCNQ1 | c.1007A>T (p.His336Leu) c.824A>T (p.His275Leu) c.1364A>T (p.His455Leu) c.983A>T (p.His328Leu) c.470A>T (p.His157Leu) | gnomAD v4 |
11 | g.2588826C>A | CA379135127 | KCNQ1 | c.1008C>A (p.His336Gln) c.825C>A (p.His275Gln) c.1365C>A (p.His455Gln) c.984C>A (p.His328Gln) c.471C>A (p.His157Gln) | |
11 | g.2588826C= | CA1948236265 | KCNQ1 | c.1008C= (p.His336=) c.825C= (p.His275=) c.1365C= (p.His455=) c.984C= (p.His328=) c.471C= (p.His157=) | |
11 | g.2588826C>G | CA379135126 | KCNQ1 | c.1008C>G (p.His336Gln) c.825C>G (p.His275Gln) c.1365C>G (p.His455Gln) c.984C>G (p.His328Gln) c.471C>G (p.His157Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2588826C>T | CA472039947 | KCNQ1 | c.1008C>T (p.His336=) c.825C>T (p.His275=) c.1365C>T (p.His455=) c.984C>T (p.His328=) c.471C>T (p.His157=) | |
11 | g.2588827T>A | CA379135128 | KCNQ1 | c.1009T>A (p.Phe337Ile) c.826T>A (p.Phe276Ile) c.1366T>A (p.Phe456Ile) c.985T>A (p.Phe329Ile) c.472T>A (p.Phe158Ile) | |
11 | g.2588827T>C | CA379135130 | KCNQ1 | c.1009T>C (p.Phe337Leu) c.826T>C (p.Phe276Leu) c.1366T>C (p.Phe456Leu) c.985T>C (p.Phe329Leu) c.472T>C (p.Phe158Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2588827T>G | CA379135129 | KCNQ1 | c.1009T>G (p.Phe337Val) c.826T>G (p.Phe276Val) c.1366T>G (p.Phe456Val) c.985T>G (p.Phe329Val) c.472T>G (p.Phe158Val) | |
11 | g.2588827T= | CA1948236274 | KCNQ1 | c.1009T= (p.Phe337=) c.826T= (p.Phe276=) c.1366T= (p.Phe456=) c.985T= (p.Phe329=) c.472T= (p.Phe158=) | |
11 | g.2588827_2588828del | CA2612004413 | KCNQ1 | c.1009_1010del (p.Phe337LeufsTer6) c.826_827del (p.Phe276LeufsTer6) c.1366_1367del (p.Phe456LeufsTer6) c.985_986del (p.Phe329LeufsTer6) c.472_473del (p.Phe158LeufsTer6) | gnomAD v4 |
11 | g.2588828T>A | CA379135131 | KCNQ1 | c.1010T>A (p.Phe337Tyr) c.827T>A (p.Phe276Tyr) c.1367T>A (p.Phe456Tyr) c.986T>A (p.Phe329Tyr) c.473T>A (p.Phe158Tyr) | |
11 | g.2588828T>C | CA379135132 | KCNQ1 | c.1010T>C (p.Phe337Ser) c.827T>C (p.Phe276Ser) c.1367T>C (p.Phe456Ser) c.986T>C (p.Phe329Ser) c.473T>C (p.Phe158Ser) | |
11 | g.2588828T>G | CA379135133 | KCNQ1 | c.1010T>G (p.Phe337Cys) c.827T>G (p.Phe276Cys) c.1367T>G (p.Phe456Cys) c.986T>G (p.Phe329Cys) c.473T>G (p.Phe158Cys) | |
11 | g.2588829C>A | CA379135134 | KCNQ1 | c.1011C>A (p.Phe337Leu) c.828C>A (p.Phe276Leu) c.1368C>A (p.Phe456Leu) c.987C>A (p.Phe329Leu) c.474C>A (p.Phe158Leu) | |
11 | g.2588829C>G | CA379135135 | KCNQ1 | c.1011C>G (p.Phe337Leu) c.828C>G (p.Phe276Leu) c.1368C>G (p.Phe456Leu) c.987C>G (p.Phe329Leu) c.474C>G (p.Phe158Leu) | |
11 | g.2588829C>T | CA472039953 | KCNQ1 | c.1011C>T (p.Phe337=) c.828C>T (p.Phe276=) c.1368C>T (p.Phe456=) c.987C>T (p.Phe329=) c.474C>T (p.Phe158=) | ClinVar gnomAD v4 |
11 | g.2588830T>A | CA379135139 | KCNQ1 | c.1012T>A (p.Ser338Thr) c.829T>A (p.Ser277Thr) c.1369T>A (p.Ser457Thr) c.988T>A (p.Ser330Thr) c.475T>A (p.Ser159Thr) | |
11 | g.2588830T>C | CA379135138 | KCNQ1 | c.1012T>C (p.Ser338Pro) c.829T>C (p.Ser277Pro) c.1369T>C (p.Ser457Pro) c.988T>C (p.Ser330Pro) c.475T>C (p.Ser159Pro) | |
11 | g.2588830T>G | CA379135136 | KCNQ1 | c.1012T>G (p.Ser338Ala) c.829T>G (p.Ser277Ala) c.1369T>G (p.Ser457Ala) c.988T>G (p.Ser330Ala) c.475T>G (p.Ser159Ala) | |
11 | g.2588831C>A | CA379135141 | KCNQ1 | c.1013C>A (p.Ser338Tyr) c.830C>A (p.Ser277Tyr) c.1370C>A (p.Ser457Tyr) c.989C>A (p.Ser330Tyr) c.476C>A (p.Ser159Tyr) | gnomAD v4 |
11 | g.2588831C>G | CA379135143 | KCNQ1 | c.1013C>G (p.Ser338Cys) c.830C>G (p.Ser277Cys) c.1370C>G (p.Ser457Cys) c.989C>G (p.Ser330Cys) c.476C>G (p.Ser159Cys) | gnomAD v4 |
11 | g.2588831C>T | CA379135145 | KCNQ1 | c.1013C>T (p.Ser338Phe) c.830C>T (p.Ser277Phe) c.1370C>T (p.Ser457Phe) c.989C>T (p.Ser330Phe) c.476C>T (p.Ser159Phe) | ClinVar dbSNP |
11 | g.2588832T>A | CA472039959 | KCNQ1 | c.1014T>A (p.Ser338=) c.831T>A (p.Ser277=) c.1371T>A (p.Ser457=) c.990T>A (p.Ser330=) c.477T>A (p.Ser159=) | |
11 | g.2588832T>C | CA472039961 | KCNQ1 | c.1014T>C (p.Ser338=) c.831T>C (p.Ser277=) c.1371T>C (p.Ser457=) c.990T>C (p.Ser330=) c.477T>C (p.Ser159=) | dbSNP |
11 | g.2588832T>G | CA472039962 | KCNQ1 | c.1014T>G (p.Ser338=) c.831T>G (p.Ser277=) c.1371T>G (p.Ser457=) c.990T>G (p.Ser330=) c.477T>G (p.Ser159=) | |
11 | g.2588833G>A | CA379135147 | KCNQ1 | c.1015G>A (p.Val339Ile) c.832G>A (p.Val278Ile) c.1372G>A (p.Val458Ile) c.991G>A (p.Val331Ile) c.478G>A (p.Val160Ile) | |
11 | g.2588833G>C | CA379135148 | KCNQ1 | c.1015G>C (p.Val339Leu) c.832G>C (p.Val278Leu) c.1372G>C (p.Val458Leu) c.991G>C (p.Val331Leu) c.478G>C (p.Val160Leu) | |
11 | g.2588833G>T | CA379135150 | KCNQ1 | c.1015G>T (p.Val339Phe) c.832G>T (p.Val278Phe) c.1372G>T (p.Val458Phe) c.991G>T (p.Val331Phe) c.478G>T (p.Val160Phe) | gnomAD v4 |
11 | g.2588834T>A | CA379135154 | KCNQ1 | c.1016T>A (p.Val339Asp) c.833T>A (p.Val278Asp) c.1373T>A (p.Val458Asp) c.992T>A (p.Val331Asp) c.479T>A (p.Val160Asp) | |
11 | g.2588834T>C | CA379135151 | KCNQ1 | c.1016T>C (p.Val339Ala) c.833T>C (p.Val278Ala) c.1373T>C (p.Val458Ala) c.992T>C (p.Val331Ala) c.479T>C (p.Val160Ala) | |
11 | g.2588834T>G | CA379135152 | KCNQ1 | c.1016T>G (p.Val339Gly) c.833T>G (p.Val278Gly) c.1373T>G (p.Val458Gly) c.992T>G (p.Val331Gly) c.479T>G (p.Val160Gly) | |
11 | g.2588834dup | CA2841921267 | KCNQ1 | c.1016dup (p.Asp340ArgfsTer4) c.833dup (p.Asp279ArgfsTer4) c.1373dup (p.Asp459ArgfsTer4) c.992dup (p.Asp332ArgfsTer4) c.479dup (p.Asp161ArgfsTer4) | |
11 | g.2588835C>A | CA472039966 | KCNQ1 | c.1017C>A (p.Val339=) c.834C>A (p.Val278=) c.1374C>A (p.Val458=) c.993C>A (p.Val331=) c.480C>A (p.Val160=) | |
11 | g.2588835C= | CA1948236278 | KCNQ1 | c.1017C= (p.Val339=) c.834C= (p.Val278=) c.1374C= (p.Val458=) c.993C= (p.Val331=) c.480C= (p.Val160=) | |
11 | g.2588835C>G | CA472039968 | KCNQ1 | c.1017C>G (p.Val339=) c.834C>G (p.Val278=) c.1374C>G (p.Val458=) c.993C>G (p.Val331=) c.480C>G (p.Val160=) | |
11 | g.2588835C>T | CA028962 | KCNQ1 | c.1017C>T (p.Val339=) c.834C>T (p.Val278=) c.1374C>T (p.Val458=) c.993C>T (p.Val331=) c.480C>T (p.Val160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588836G>A | CA028983 | KCNQ1 | c.1018G>A (p.Asp340Asn) c.835G>A (p.Asp279Asn) c.1375G>A (p.Asp459Asn) c.994G>A (p.Asp332Asn) c.481G>A (p.Asp161Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588836G>C | CA379135157 | KCNQ1 | c.1018G>C (p.Asp340His) c.835G>C (p.Asp279His) c.1375G>C (p.Asp459His) c.994G>C (p.Asp332His) c.481G>C (p.Asp161His) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2588836G= | CA1948236282 | KCNQ1 | c.1018G= (p.Asp340=) c.835G= (p.Asp279=) c.1375G= (p.Asp459=) c.994G= (p.Asp332=) c.481G= (p.Asp161=) | |
11 | g.2588836G>T | CA379135159 | KCNQ1 | c.1018G>T (p.Asp340Tyr) c.835G>T (p.Asp279Tyr) c.1375G>T (p.Asp459Tyr) c.994G>T (p.Asp332Tyr) c.481G>T (p.Asp161Tyr) | ClinVar |
11 | g.2588837A= | CA1948236305 | KCNQ1 | c.1019A= (p.Asp340=) c.836A= (p.Asp279=) c.1376A= (p.Asp459=) c.995A= (p.Asp332=) c.482A= (p.Asp161=) | |
11 | g.2588837A>C | CA379135161 | KCNQ1 | c.1019A>C (p.Asp340Ala) c.836A>C (p.Asp279Ala) c.1376A>C (p.Asp459Ala) c.995A>C (p.Asp332Ala) c.482A>C (p.Asp161Ala) | |
11 | g.2588837A>G | CA379135164 | KCNQ1 | c.1019A>G (p.Asp340Gly) c.836A>G (p.Asp279Gly) c.1376A>G (p.Asp459Gly) c.995A>G (p.Asp332Gly) c.482A>G (p.Asp161Gly) | |
11 | g.2588837A>T | CA379135165 | KCNQ1 | c.1019A>T (p.Asp340Val) c.836A>T (p.Asp279Val) c.1376A>T (p.Asp459Val) c.995A>T (p.Asp332Val) c.482A>T (p.Asp161Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2588838C>A | CA379135167 | KCNQ1 | c.1020C>A (p.Asp340Glu) c.837C>A (p.Asp279Glu) c.1377C>A (p.Asp459Glu) c.996C>A (p.Asp332Glu) c.483C>A (p.Asp161Glu) | COSMIC |
11 | g.2588838C= | CA1948236316 | KCNQ1 | c.1020C= (p.Asp340=) c.837C= (p.Asp279=) c.1377C= (p.Asp459=) c.996C= (p.Asp332=) c.483C= (p.Asp161=) | |
11 | g.2588838C>G | CA379135169 | KCNQ1 | c.1020C>G (p.Asp340Glu) c.837C>G (p.Asp279Glu) c.1377C>G (p.Asp459Glu) c.996C>G (p.Asp332Glu) c.483C>G (p.Asp161Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.2588838C>T | CA028996 | KCNQ1 | c.1020C>T (p.Asp340=) c.837C>T (p.Asp279=) c.1377C>T (p.Asp459=) c.996C>T (p.Asp332=) c.483C>T (p.Asp161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588839G>A | CA005709 | KCNQ1 | c.1021G>A (p.Gly341Ser) c.838G>A (p.Gly280Ser) c.1378G>A (p.Gly460Ser) c.997G>A (p.Gly333Ser) c.484G>A (p.Gly162Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2588839G>C | CA379135173 | KCNQ1 | c.1021G>C (p.Gly341Arg) c.838G>C (p.Gly280Arg) c.1378G>C (p.Gly460Arg) c.997G>C (p.Gly333Arg) c.484G>C (p.Gly162Arg) | |
11 | g.2588839G= | CA1948236325 | KCNQ1 | c.1021G= (p.Gly341=) c.838G= (p.Gly280=) c.1378G= (p.Gly460=) c.997G= (p.Gly333=) c.484G= (p.Gly162=) | |
11 | g.2588839G>T | CA029020 | KCNQ1 | c.1021G>T (p.Gly341Cys) c.838G>T (p.Gly280Cys) c.1378G>T (p.Gly460Cys) c.997G>T (p.Gly333Cys) c.484G>T (p.Gly162Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588840G>A | CA029037 | KCNQ1 | c.1022G>A (p.Gly341Asp) c.839G>A (p.Gly280Asp) c.1379G>A (p.Gly460Asp) c.998G>A (p.Gly333Asp) c.485G>A (p.Gly162Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588840G>C | CA379135177 | KCNQ1 | c.1022G>C (p.Gly341Ala) c.839G>C (p.Gly280Ala) c.1379G>C (p.Gly460Ala) c.998G>C (p.Gly333Ala) c.485G>C (p.Gly162Ala) | |
11 | g.2588840G= | CA1948236330 | KCNQ1 | c.1022G= (p.Gly341=) c.839G= (p.Gly280=) c.1379G= (p.Gly460=) c.998G= (p.Gly333=) c.485G= (p.Gly162=) | |
11 | g.2588840G>T | CA379135178 | KCNQ1 | c.1022G>T (p.Gly341Val) c.839G>T (p.Gly280Val) c.1379G>T (p.Gly460Val) c.998G>T (p.Gly333Val) c.485G>T (p.Gly162Val) | |
11 | g.2588841C>A | CA472039977 | KCNQ1 | c.1023C>A (p.Gly341=) c.840C>A (p.Gly280=) c.1380C>A (p.Gly460=) c.999C>A (p.Gly333=) c.486C>A (p.Gly162=) | |
11 | g.2588841C>G | CA472039978 | KCNQ1 | c.1023C>G (p.Gly341=) c.840C>G (p.Gly280=) c.1380C>G (p.Gly460=) c.999C>G (p.Gly333=) c.486C>G (p.Gly162=) | |
11 | g.2588841C>T | CA472039979 | KCNQ1 | c.1023C>T (p.Gly341=) c.840C>T (p.Gly280=) c.1380C>T (p.Gly460=) c.999C>T (p.Gly333=) c.486C>T (p.Gly162=) | |
11 | g.2588842T>A | CA379135181 | KCNQ1 | c.1024T>A (p.Tyr342Asn) c.841T>A (p.Tyr281Asn) c.1381T>A (p.Tyr461Asn) c.1000T>A (p.Tyr334Asn) c.487T>A (p.Tyr163Asn) | |
11 | g.2588842T>C | CA379135182 | KCNQ1 | c.1024T>C (p.Tyr342His) c.841T>C (p.Tyr281His) c.1381T>C (p.Tyr461His) c.1000T>C (p.Tyr334His) c.487T>C (p.Tyr163His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2588842T>G | CA379135183 | KCNQ1 | c.1024T>G (p.Tyr342Asp) c.841T>G (p.Tyr281Asp) c.1381T>G (p.Tyr461Asp) c.1000T>G (p.Tyr334Asp) c.487T>G (p.Tyr163Asp) | |
11 | g.2588842T= | CA1948236340 | KCNQ1 | c.1024T= (p.Tyr342=) c.841T= (p.Tyr281=) c.1381T= (p.Tyr461=) c.1000T= (p.Tyr334=) c.487T= (p.Tyr163=) | |
11 | g.2588843A>C | CA379135184 | KCNQ1 | c.1025A>C (p.Tyr342Ser) c.842A>C (p.Tyr281Ser) c.1382A>C (p.Tyr461Ser) c.1001A>C (p.Tyr334Ser) c.488A>C (p.Tyr163Ser) | |
11 | g.2588843A>G | CA379135186 | KCNQ1 | c.1025A>G (p.Tyr342Cys) c.842A>G (p.Tyr281Cys) c.1382A>G (p.Tyr461Cys) c.1001A>G (p.Tyr334Cys) c.488A>G (p.Tyr163Cys) | |
11 | g.2588843A>T | CA379135188 | KCNQ1 | c.1025A>T (p.Tyr342Phe) c.842A>T (p.Tyr281Phe) c.1382A>T (p.Tyr461Phe) c.1001A>T (p.Tyr334Phe) c.488A>T (p.Tyr163Phe) | |
11 | g.2588843dup | CA1948236345 | KCNQ1 | c.1025dup (p.Tyr342Ter) c.842dup (p.Tyr281Ter) c.1382dup (p.Tyr461Ter) c.1001dup (p.Tyr334Ter) c.488dup (p.Tyr163Ter) | dbSNP |
11 | g.2588844T>A | CA005715 | KCNQ1 | c.1026T>A (p.Tyr342Ter) c.843T>A (p.Tyr281Ter) c.1383T>A (p.Tyr461Ter) c.1002T>A (p.Tyr334Ter) c.489T>A (p.Tyr163Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2588844T>C | CA16605893 | KCNQ1 | c.1026T>C (p.Tyr342=) c.843T>C (p.Tyr281=) c.1383T>C (p.Tyr461=) c.1002T>C (p.Tyr334=) c.489T>C (p.Tyr163=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588844T>G | CA379135190 | KCNQ1 | c.1026T>G (p.Tyr342Ter) c.843T>G (p.Tyr281Ter) c.1383T>G (p.Tyr461Ter) c.1002T>G (p.Tyr334Ter) c.489T>G (p.Tyr163Ter) | |
11 | g.2588844T= | CA1948236355 | KCNQ1 | c.1026T= (p.Tyr342=) c.843T= (p.Tyr281=) c.1383T= (p.Tyr461=) c.1002T= (p.Tyr334=) c.489T= (p.Tyr163=) | |
11 | g.2588845G>A | CA029054 | KCNQ1 | c.1027G>A (p.Asp343Asn) c.844G>A (p.Asp282Asn) c.1384G>A (p.Asp462Asn) c.1003G>A (p.Asp335Asn) c.490G>A (p.Asp164Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588845G>C | CA379135195 | KCNQ1 | c.1027G>C (p.Asp343His) c.844G>C (p.Asp282His) c.1384G>C (p.Asp462His) c.1003G>C (p.Asp335His) c.490G>C (p.Asp164His) | |
11 | g.2588845G= | CA1948236368 | KCNQ1 | c.1027G= (p.Asp343=) c.844G= (p.Asp282=) c.1384G= (p.Asp462=) c.1003G= (p.Asp335=) c.490G= (p.Asp164=) | |
11 | g.2588845G>T | CA379135197 | KCNQ1 | c.1027G>T (p.Asp343Tyr) c.844G>T (p.Asp282Tyr) c.1384G>T (p.Asp462Tyr) c.1003G>T (p.Asp335Tyr) c.490G>T (p.Asp164Tyr) | gnomAD v4 |
11 | g.2588846A= | CA1948236373 | KCNQ1 | c.1028A= (p.Asp343=) c.845A= (p.Asp282=) c.1385A= (p.Asp462=) c.1004A= (p.Asp335=) c.491A= (p.Asp164=) | |
11 | g.2588846A>C | CA379135200 | KCNQ1 | c.1028A>C (p.Asp343Ala) c.845A>C (p.Asp282Ala) c.1385A>C (p.Asp462Ala) c.1004A>C (p.Asp335Ala) c.491A>C (p.Asp164Ala) | |
11 | g.2588846A>G | CA379135201 | KCNQ1 | c.1028A>G (p.Asp343Gly) c.845A>G (p.Asp282Gly) c.1385A>G (p.Asp462Gly) c.1004A>G (p.Asp335Gly) c.491A>G (p.Asp164Gly) | dbSNP gnomAD v2 |
11 | g.2588846A>T | CA379135204 | KCNQ1 | c.1028A>T (p.Asp343Val) c.845A>T (p.Asp282Val) c.1385A>T (p.Asp462Val) c.1004A>T (p.Asp335Val) c.491A>T (p.Asp164Val) | |
11 | g.2588847C>A | CA379135206 | KCNQ1 | c.1029C>A (p.Asp343Glu) c.846C>A (p.Asp282Glu) c.1386C>A (p.Asp462Glu) c.1005C>A (p.Asp335Glu) c.492C>A (p.Asp164Glu) | |
11 | g.2588847C= | CA1948236383 | KCNQ1 | c.1029C= (p.Asp343=) c.846C= (p.Asp282=) c.1386C= (p.Asp462=) c.1005C= (p.Asp335=) c.492C= (p.Asp164=) | |
11 | g.2588847C>G | CA379135208 | KCNQ1 | c.1029C>G (p.Asp343Glu) c.846C>G (p.Asp282Glu) c.1386C>G (p.Asp462Glu) c.1005C>G (p.Asp335Glu) c.492C>G (p.Asp164Glu) | dbSNP |
11 | g.2588847C>T | CA029069 | KCNQ1 | c.1029C>T (p.Asp343=) c.846C>T (p.Asp282=) c.1386C>T (p.Asp462=) c.1005C>T (p.Asp335=) c.492C>T (p.Asp164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588848A= | CA1948236396 | KCNQ1 | c.1030A= (p.Ser344=) c.847A= (p.Ser283=) c.1387A= (p.Ser463=) c.1006A= (p.Ser336=) c.493A= (p.Ser165=) | |
11 | g.2588848A>C | CA379135210 | KCNQ1 | c.1030A>C (p.Ser344Arg) c.847A>C (p.Ser283Arg) c.1387A>C (p.Ser463Arg) c.1006A>C (p.Ser336Arg) c.493A>C (p.Ser165Arg) | |
11 | g.2588848A>G | CA379135212 | KCNQ1 | c.1030A>G (p.Ser344Gly) c.847A>G (p.Ser283Gly) c.1387A>G (p.Ser463Gly) c.1006A>G (p.Ser336Gly) c.493A>G (p.Ser165Gly) | ClinVar dbSNP |
11 | g.2588848A>T | CA379135214 | KCNQ1 | c.1030A>T (p.Ser344Cys) c.847A>T (p.Ser283Cys) c.1387A>T (p.Ser463Cys) c.1006A>T (p.Ser336Cys) c.493A>T (p.Ser165Cys) | gnomAD v4 |
11 | g.2588849G>A | CA379135216 | KCNQ1 | c.1031G>A (p.Ser344Asn) c.848G>A (p.Ser283Asn) c.1388G>A (p.Ser463Asn) c.1007G>A (p.Ser336Asn) c.494G>A (p.Ser165Asn) | |
11 | g.2588849G>C | CA029097 | KCNQ1 | c.1031G>C (p.Ser344Thr) c.848G>C (p.Ser283Thr) c.1388G>C (p.Ser463Thr) c.1007G>C (p.Ser336Thr) c.494G>C (p.Ser165Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588849G= | CA1948236399 | KCNQ1 | c.1031G= (p.Ser344=) c.848G= (p.Ser283=) c.1388G= (p.Ser463=) c.1007G= (p.Ser336=) c.494G= (p.Ser165=) | |
11 | g.2588849G>T | CA379135219 | KCNQ1 | c.1031G>T (p.Ser344Ile) c.848G>T (p.Ser283Ile) c.1388G>T (p.Ser463Ile) c.1007G>T (p.Ser336Ile) c.494G>T (p.Ser165Ile) | |
11 | g.2588850T>A | CA379135221 | KCNQ1 | c.1032T>A (p.Ser344Arg) c.849T>A (p.Ser283Arg) c.1389T>A (p.Ser463Arg) c.1008T>A (p.Ser336Arg) c.495T>A (p.Ser165Arg) | |
11 | g.2588850T>C | CA472039996 | KCNQ1 | c.1032T>C (p.Ser344=) c.849T>C (p.Ser283=) c.1389T>C (p.Ser463=) c.1008T>C (p.Ser336=) c.495T>C (p.Ser165=) | gnomAD v4 |
11 | g.2588850T>G | CA379135223 | KCNQ1 | c.1032T>G (p.Ser344Arg) c.849T>G (p.Ser283Arg) c.1389T>G (p.Ser463Arg) c.1008T>G (p.Ser336Arg) c.495T>G (p.Ser165Arg) | |
11 | g.2588851T>A | CA379135225 | KCNQ1 | c.1033T>A (p.Ser345Thr) c.850T>A (p.Ser284Thr) c.1390T>A (p.Ser464Thr) c.1009T>A (p.Ser337Thr) c.496T>A (p.Ser166Thr) | |
11 | g.2588851T>C | CA379135226 | KCNQ1 | c.1033T>C (p.Ser345Pro) c.850T>C (p.Ser284Pro) c.1390T>C (p.Ser464Pro) c.1009T>C (p.Ser337Pro) c.496T>C (p.Ser166Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2588851T>G | CA379135227 | KCNQ1 | c.1033T>G (p.Ser345Ala) c.850T>G (p.Ser284Ala) c.1390T>G (p.Ser464Ala) c.1009T>G (p.Ser337Ala) c.496T>G (p.Ser166Ala) | |
11 | g.2588851T= | CA1948236406 | KCNQ1 | c.1033T= (p.Ser345=) c.850T= (p.Ser284=) c.1390T= (p.Ser464=) c.1009T= (p.Ser337=) c.496T= (p.Ser166=) | |
11 | g.2588852C>A | CA379135230 | KCNQ1 | c.1034C>A (p.Ser345Tyr) c.851C>A (p.Ser284Tyr) c.1391C>A (p.Ser464Tyr) c.1010C>A (p.Ser337Tyr) c.497C>A (p.Ser166Tyr) | |
11 | g.2588852C>G | CA379135234 | KCNQ1 | c.1034C>G (p.Ser345Cys) c.851C>G (p.Ser284Cys) c.1391C>G (p.Ser464Cys) c.1010C>G (p.Ser337Cys) c.497C>G (p.Ser166Cys) | gnomAD v4 |
11 | g.2588852C>T | CA379135231 | KCNQ1 | c.1034C>T (p.Ser345Phe) c.851C>T (p.Ser284Phe) c.1391C>T (p.Ser464Phe) c.1010C>T (p.Ser337Phe) c.497C>T (p.Ser166Phe) | gnomAD v4 |
11 | g.2588853T>A | CA472040001 | KCNQ1 | c.1035T>A (p.Ser345=) c.852T>A (p.Ser284=) c.1392T>A (p.Ser464=) c.1011T>A (p.Ser337=) c.498T>A (p.Ser166=) | |
11 | g.2588853T>C | CA472040002 | KCNQ1 | c.1035T>C (p.Ser345=) c.852T>C (p.Ser284=) c.1392T>C (p.Ser464=) c.1011T>C (p.Ser337=) c.498T>C (p.Ser166=) | |
11 | g.2588853T>G | CA472040003 | KCNQ1 | c.1035T>G (p.Ser345=) c.852T>G (p.Ser284=) c.1392T>G (p.Ser464=) c.1011T>G (p.Ser337=) c.498T>G (p.Ser166=) | |
11 | g.2588854G>A | CA379135236 | KCNQ1 | c.1036G>A (p.Val346Ile) c.853G>A (p.Val285Ile) c.1393G>A (p.Val465Ile) c.1012G>A (p.Val338Ile) c.499G>A (p.Val167Ile) | |
11 | g.2588854G>C | CA379135240 | KCNQ1 | c.1036G>C (p.Val346Leu) c.853G>C (p.Val285Leu) c.1393G>C (p.Val465Leu) c.1012G>C (p.Val338Leu) c.499G>C (p.Val167Leu) | |
11 | g.2588854G>T | CA379135239 | KCNQ1 | c.1036G>T (p.Val346Leu) c.853G>T (p.Val285Leu) c.1393G>T (p.Val465Leu) c.1012G>T (p.Val338Leu) c.499G>T (p.Val167Leu) | |
11 | g.2588855G>A | CA379135243 | KCNQ1 | c.1036+1G>A (n.1036+1G>A) c.853+1G>A (n.853+1G>A) c.1393+1G>A (n.1393+1G>A) c.1012+1G>A (n.1012+1G>A) c.499+1G>A (n.499+1G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2588855G>C | CA379135245 | KCNQ1 | c.1036+1G>C (n.1036+1G>C) c.853+1G>C (n.853+1G>C) c.1393+1G>C (n.1393+1G>C) c.1012+1G>C (n.1012+1G>C) c.499+1G>C (n.499+1G>C) | |
11 | g.2588855G= | CA1948236410 | KCNQ1 | c.1036+1G= (n.1036+1G=) c.853+1G= (n.853+1G=) c.1393+1G= (n.1393+1G=) c.1012+1G= (n.1012+1G=) c.499+1G= (n.499+1G=) | |
11 | g.2588855G>T | CA379135246 | KCNQ1 | c.1036+1G>T (n.1036+1G>T) c.853+1G>T (n.853+1G>T) c.1393+1G>T (n.1393+1G>T) c.1012+1G>T (n.1012+1G>T) c.499+1G>T (n.499+1G>T) | |
11 | g.2588856T>A | CA379135249 | KCNQ1 | c.1036+2T>A (n.1036+2T>A) c.853+2T>A (n.853+2T>A) c.1393+2T>A (n.1393+2T>A) c.1012+2T>A (n.1012+2T>A) c.499+2T>A (n.499+2T>A) | |
11 | g.2588856T>C | CA379135250 | KCNQ1 | c.1036+2T>C (n.1036+2T>C) c.853+2T>C (n.853+2T>C) c.1393+2T>C (n.1393+2T>C) c.1012+2T>C (n.1012+2T>C) c.499+2T>C (n.499+2T>C) | |
11 | g.2588856T>G | CA379135251 | KCNQ1 | c.1036+2T>G (n.1036+2T>G) c.853+2T>G (n.853+2T>G) c.1393+2T>G (n.1393+2T>G) c.1012+2T>G (n.1012+2T>G) c.499+2T>G (n.499+2T>G) | |
11 | g.2588857G>A | CA2790203563 | KCNQ1 | c.1036+3G>A (n.1036+3G>A) c.853+3G>A (n.853+3G>A) c.1393+3G>A (n.1393+3G>A) c.1012+3G>A (n.1012+3G>A) c.499+3G>A (n.499+3G>A) | |
11 | g.2588861A>C | CA934464340 | KCNQ1 | c.1036+7A>C (n.1036+7A>C) c.853+7A>C (n.853+7A>C) c.1393+7A>C (n.1393+7A>C) c.1012+7A>C (n.1012+7A>C) c.499+7A>C (n.499+7A>C) | gnomAD v3 gnomAD v4 |
11 | g.2588862C>T | CA2612004418 | KCNQ1 | c.1036+8C>T (n.1036+8C>T) c.853+8C>T (n.853+8C>T) c.1393+8C>T (n.1393+8C>T) c.1012+8C>T (n.1012+8C>T) c.499+8C>T (n.499+8C>T) | gnomAD v4 |
11 | g.2588865dup | CA2838222907 | KCNQ1 | c.1036+11dup (n.1036+11dup) c.853+11dup (n.853+11dup) c.1393+11dup (n.1393+11dup) c.1012+11dup (n.1012+11dup) c.499+11dup (n.499+11dup) | |
11 | g.2588863C>A | CA029368 | KCNQ1 | c.1036+9C>A (n.1036+9C>A) c.853+9C>A (n.853+9C>A) c.1393+9C>A (n.1393+9C>A) c.1012+9C>A (n.1012+9C>A) c.499+9C>A (n.499+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588863C= | CA1948236419 | KCNQ1 | c.1036+9C= (n.1036+9C=) c.853+9C= (n.853+9C=) c.1393+9C= (n.1393+9C=) c.1012+9C= (n.1012+9C=) c.499+9C= (n.499+9C=) | |
11 | g.2588863C>T | CA029399 | KCNQ1 | c.1036+9C>T (n.1036+9C>T) c.853+9C>T (n.853+9C>T) c.1393+9C>T (n.1393+9C>T) c.1012+9C>T (n.1012+9C>T) c.499+9C>T (n.499+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588864C>A | CA597432459 | KCNQ1 | c.1036+10C>A (n.1036+10C>A) c.853+10C>A (n.853+10C>A) c.1393+10C>A (n.1393+10C>A) c.1012+10C>A (n.1012+10C>A) c.499+10C>A (n.499+10C>A) | dbSNP gnomAD v2 |
11 | g.2588864C= | CA1948236430 | KCNQ1 | c.1036+10C= (n.1036+10C=) c.853+10C= (n.853+10C=) c.1393+10C= (n.1393+10C=) c.1012+10C= (n.1012+10C=) c.499+10C= (n.499+10C=) | |
11 | g.2588864C>G | CA2574728375 | KCNQ1 | c.1036+10C>G (n.1036+10C>G) c.853+10C>G (n.853+10C>G) c.1393+10C>G (n.1393+10C>G) c.1012+10C>G (n.1012+10C>G) c.499+10C>G (n.499+10C>G) | |
11 | g.2588864C>T | CA1948236432 | KCNQ1 | c.1036+10C>T (n.1036+10C>T) c.853+10C>T (n.853+10C>T) c.1393+10C>T (n.1393+10C>T) c.1012+10C>T (n.1012+10C>T) c.499+10C>T (n.499+10C>T) | dbSNP |
11 | g.2588865C>A | CA2574728376 | KCNQ1 | c.1036+11C>A (n.1036+11C>A) c.853+11C>A (n.853+11C>A) c.1393+11C>A (n.1393+11C>A) c.1012+11C>A (n.1012+11C>A) c.499+11C>A (n.499+11C>A) | |
11 | g.2588868A>G | CA2612004419 | KCNQ1 | c.1036+14A>G (n.1036+14A>G) c.853+14A>G (n.853+14A>G) c.1393+14A>G (n.1393+14A>G) c.1012+14A>G (n.1012+14A>G) c.499+14A>G (n.499+14A>G) | gnomAD v4 |
11 | g.2588870G>T | CA2612004420 | KCNQ1 | c.1036+16G>T (n.1036+16G>T) c.853+16G>T (n.853+16G>T) c.1393+16G>T (n.1393+16G>T) c.1012+16G>T (n.1012+16G>T) c.499+16G>T (n.499+16G>T) | gnomAD v4 |
11 | g.2588871C>T | CA2838365974 | KCNQ1 | c.1036+17C>T (n.1036+17C>T) c.853+17C>T (n.853+17C>T) c.1393+17C>T (n.1393+17C>T) c.1012+17C>T (n.1012+17C>T) c.499+17C>T (n.499+17C>T) | |
11 | g.2588872A= | CA1948236439 | KCNQ1 | c.1036+18A= (n.1036+18A=) c.853+18A= (n.853+18A=) c.1393+18A= (n.1393+18A=) c.1012+18A= (n.1012+18A=) c.499+18A= (n.499+18A=) | |
11 | g.2588872A>G | CA029110 | KCNQ1 | c.1036+18A>G (n.1036+18A>G) c.853+18A>G (n.853+18A>G) c.1393+18A>G (n.1393+18A>G) c.1012+18A>G (n.1012+18A>G) c.499+18A>G (n.499+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588873G>A | CA029123 | KCNQ1 | c.1036+19G>A (n.1036+19G>A) c.853+19G>A (n.853+19G>A) c.1393+19G>A (n.1393+19G>A) c.1012+19G>A (n.1012+19G>A) c.499+19G>A (n.499+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588873G= | CA1948236447 | KCNQ1 | c.1036+19G= (n.1036+19G=) c.853+19G= (n.853+19G=) c.1393+19G= (n.1393+19G=) c.1012+19G= (n.1012+19G=) c.499+19G= (n.499+19G=) | |
11 | g.2588873G>T | CA029135 | KCNQ1 | c.1036+19G>T (n.1036+19G>T) c.853+19G>T (n.853+19G>T) c.1393+19G>T (n.1393+19G>T) c.1012+19G>T (n.1012+19G>T) c.499+19G>T (n.499+19G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588874T>C | CA2612004422 | KCNQ1 | c.1036+20T>C (n.1036+20T>C) c.853+20T>C (n.853+20T>C) c.1393+20T>C (n.1393+20T>C) c.1012+20T>C (n.1012+20T>C) c.499+20T>C (n.499+20T>C) | gnomAD v4 |
11 | g.2588874T>G | CA2723228015 | KCNQ1 | c.1036+20T>G (n.1036+20T>G) c.853+20T>G (n.853+20T>G) c.1393+20T>G (n.1393+20T>G) c.1012+20T>G (n.1012+20T>G) c.499+20T>G (n.499+20T>G) | dbSNP |
11 | g.2588875T>G | CA675032823 | KCNQ1 | c.1036+21T>G (n.1036+21T>G) c.853+21T>G (n.853+21T>G) c.1393+21T>G (n.1393+21T>G) c.1012+21T>G (n.1012+21T>G) c.499+21T>G (n.499+21T>G) | dbSNP |
11 | g.2588875T= | CA1948236451 | KCNQ1 | c.1036+21T= (n.1036+21T=) c.853+21T= (n.853+21T=) c.1393+21T= (n.1393+21T=) c.1012+21T= (n.1012+21T=) c.499+21T= (n.499+21T=) | |
11 | g.2588875_2588884del | CA2574728377 | KCNQ1 | c.1036+21_1036+30del (n.1036+21_1036+30del) c.853+21_853+30del (n.853+21_853+30del) c.1393+21_1393+30del (n.1393+21_1393+30del) c.1012+21_1012+30del (n.1012+21_1012+30del) c.499+21_499+30del (n.499+21_499+30del) | |
11 | g.2588876G>A | CA216335083 | KCNQ1 | c.1036+22G>A (n.1036+22G>A) c.853+22G>A (n.853+22G>A) c.1393+22G>A (n.1393+22G>A) c.1012+22G>A (n.1012+22G>A) c.499+22G>A (n.499+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2588876G= | CA1948236454 | KCNQ1 | c.1036+22G= (n.1036+22G=) c.853+22G= (n.853+22G=) c.1393+22G= (n.1393+22G=) c.1012+22G= (n.1012+22G=) c.499+22G= (n.499+22G=) | |
11 | g.2588880del | CA2612004423 | KCNQ1 | c.1036+26del (n.1036+26del) c.853+26del (n.853+26del) c.1393+26del (n.1393+26del) c.1012+26del (n.1012+26del) c.499+26del (n.499+26del) | gnomAD v4 |
11 | g.2588877G>A | CA216335088 | KCNQ1 | c.1036+23G>A (n.1036+23G>A) c.853+23G>A (n.853+23G>A) c.1393+23G>A (n.1393+23G>A) c.1012+23G>A (n.1012+23G>A) c.499+23G>A (n.499+23G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2588877G>C | CA029147 | KCNQ1 | c.1036+23G>C (n.1036+23G>C) c.853+23G>C (n.853+23G>C) c.1393+23G>C (n.1393+23G>C) c.1012+23G>C (n.1012+23G>C) c.499+23G>C (n.499+23G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2588877G= | CA1948236458 | KCNQ1 | c.1036+23G= (n.1036+23G=) c.853+23G= (n.853+23G=) c.1393+23G= (n.1393+23G=) c.1012+23G= (n.1012+23G=) c.499+23G= (n.499+23G=) | |
11 | g.2588877G>T | CA653929689 | KCNQ1 | c.1036+23G>T (n.1036+23G>T) c.853+23G>T (n.853+23G>T) c.1393+23G>T (n.1393+23G>T) c.1012+23G>T (n.1012+23G>T) c.499+23G>T (n.499+23G>T) | COSMIC |
11 | g.2588878G>A | CA216335100 | KCNQ1 | c.1036+24G>A (n.1036+24G>A) c.853+24G>A (n.853+24G>A) c.1393+24G>A (n.1393+24G>A) c.1012+24G>A (n.1012+24G>A) c.499+24G>A (n.499+24G>A) | dbSNP gnomAD v4 |
11 | g.2588878G= | CA1948236465 | KCNQ1 | c.1036+24G= (n.1036+24G=) c.853+24G= (n.853+24G=) c.1393+24G= (n.1393+24G=) c.1012+24G= (n.1012+24G=) c.499+24G= (n.499+24G=) | |
11 | g.2588879G>T | CA2841921268 | KCNQ1 | c.1036+25G>T (n.1036+25G>T) c.853+25G>T (n.853+25G>T) c.1393+25G>T (n.1393+25G>T) c.1012+25G>T (n.1012+25G>T) c.499+25G>T (n.499+25G>T) | |
11 | g.2588880G>A | CA029159 | KCNQ1 | c.1036+26G>A (n.1036+26G>A) c.853+26G>A (n.853+26G>A) c.1393+26G>A (n.1393+26G>A) c.1012+26G>A (n.1012+26G>A) c.499+26G>A (n.499+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2588880G= | CA1948236469 | KCNQ1 | c.1036+26G= (n.1036+26G=) c.853+26G= (n.853+26G=) c.1393+26G= (n.1393+26G=) c.1012+26G= (n.1012+26G=) c.499+26G= (n.499+26G=) | |
11 | g.2588880G>T | CA1948236468 | KCNQ1 | c.1036+26G>T (n.1036+26G>T) c.853+26G>T (n.853+26G>T) c.1393+26G>T (n.1393+26G>T) c.1012+26G>T (n.1012+26G>T) c.499+26G>T (n.499+26G>T) | dbSNP gnomAD v3 gnomAD v4 |