Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2768818A= | CA1948309834 | KCNQ1 | c.1158-26A= (n.1158-26A=) c.975-26A= (n.975-26A=) c.1515-26A= (n.1515-26A=) c.1134-26A= (n.1134-26A=) c.621-26A= (n.621-26A=) | |
11 | g.2768818A>C | CA030509 | KCNQ1 | c.1158-26A>C (n.1158-26A>C) c.975-26A>C (n.975-26A>C) c.1515-26A>C (n.1515-26A>C) c.1134-26A>C (n.1134-26A>C) c.621-26A>C (n.621-26A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768819A= | CA1948309837 | KCNQ1 | c.1158-25A= (n.1158-25A=) c.975-25A= (n.975-25A=) c.1515-25A= (n.1515-25A=) c.1134-25A= (n.1134-25A=) c.621-25A= (n.621-25A=) | |
11 | g.2768819A>G | CA030495 | KCNQ1 | c.1158-25A>G (n.1158-25A>G) c.975-25A>G (n.975-25A>G) c.1515-25A>G (n.1515-25A>G) c.1134-25A>G (n.1134-25A>G) c.621-25A>G (n.621-25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768820T>A | CA030474 | KCNQ1 | c.1158-24T>A (n.1158-24T>A) c.975-24T>A (n.975-24T>A) c.1515-24T>A (n.1515-24T>A) c.1134-24T>A (n.1134-24T>A) c.621-24T>A (n.621-24T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768820T>C | CA2841261027 | KCNQ1 | c.1158-24T>C (n.1158-24T>C) c.975-24T>C (n.975-24T>C) c.1515-24T>C (n.1515-24T>C) c.1134-24T>C (n.1134-24T>C) c.621-24T>C (n.621-24T>C) | |
11 | g.2768820T= | CA1948309843 | KCNQ1 | c.1158-24T= (n.1158-24T=) c.975-24T= (n.975-24T=) c.1515-24T= (n.1515-24T=) c.1134-24T= (n.1134-24T=) c.621-24T= (n.621-24T=) | |
11 | g.2768829_2768833dup | CA675145835 | KCNQ1 | c.1158-15_1158-11dup (n.1158-15_1158-11dup) c.975-15_975-11dup (n.975-15_975-11dup) c.1515-15_1515-11dup (n.1515-15_1515-11dup) c.1134-15_1134-11dup (n.1134-15_1134-11dup) c.621-15_621-11dup (n.621-15_621-11dup) | dbSNP gnomAD v4 |
11 | g.2768829_2768833del | CA2574728410 | KCNQ1 | c.1158-15_1158-11del (n.1158-15_1158-11del) c.975-15_975-11del (n.975-15_975-11del) c.1515-15_1515-11del (n.1515-15_1515-11del) c.1134-15_1134-11del (n.1134-15_1134-11del) c.621-15_621-11del (n.621-15_621-11del) | gnomAD v4 |
11 | g.2768821C>A | CA2574728411 | KCNQ1 | c.1158-23C>A (n.1158-23C>A) c.975-23C>A (n.975-23C>A) c.1515-23C>A (n.1515-23C>A) c.1134-23C>A (n.1134-23C>A) c.621-23C>A (n.621-23C>A) | gnomAD v4 |
11 | g.2768824_2768826del | CA2590572300 | KCNQ1 | c.1158-20_1158-18del (n.1158-20_1158-18del) c.975-20_975-18del (n.975-20_975-18del) c.1515-20_1515-18del (n.1515-20_1515-18del) c.1134-20_1134-18del (n.1134-20_1134-18del) c.621-20_621-18del (n.621-20_621-18del) | gnomAD v3 gnomAD v4 |
11 | g.2768822T>C | CA1948309847 | KCNQ1 | c.1158-22T>C (n.1158-22T>C) c.975-22T>C (n.975-22T>C) c.1515-22T>C (n.1515-22T>C) c.1134-22T>C (n.1134-22T>C) c.621-22T>C (n.621-22T>C) | dbSNP gnomAD v4 |
11 | g.2768822T= | CA1948309845 | KCNQ1 | c.1158-22T= (n.1158-22T=) c.975-22T= (n.975-22T=) c.1515-22T= (n.1515-22T=) c.1134-22T= (n.1134-22T=) c.621-22T= (n.621-22T=) | |
11 | g.2768823C>T | CA2574728412 | KCNQ1 | c.1158-21C>T (n.1158-21C>T) c.975-21C>T (n.975-21C>T) c.1515-21C>T (n.1515-21C>T) c.1134-21C>T (n.1134-21C>T) c.621-21C>T (n.621-21C>T) | gnomAD v4 |
11 | g.2768824C= | CA1948309849 | KCNQ1 | c.1158-20C= (n.1158-20C=) c.975-20C= (n.975-20C=) c.1515-20C= (n.1515-20C=) c.1134-20C= (n.1134-20C=) c.621-20C= (n.621-20C=) | |
11 | g.2768824C>G | CA597109698 | KCNQ1 | c.1158-20C>G (n.1158-20C>G) c.975-20C>G (n.975-20C>G) c.1515-20C>G (n.1515-20C>G) c.1134-20C>G (n.1134-20C>G) c.621-20C>G (n.621-20C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768824C>T | CA472459418 | KCNQ1 | c.1158-20C>T (n.1158-20C>T) c.975-20C>T (n.975-20C>T) c.1515-20C>T (n.1515-20C>T) c.1134-20C>T (n.1134-20C>T) c.621-20C>T (n.621-20C>T) | |
11 | g.2768826C>A | CA2839529072 | KCNQ1 | c.1158-18C>A (n.1158-18C>A) c.975-18C>A (n.975-18C>A) c.1515-18C>A (n.1515-18C>A) c.1134-18C>A (n.1134-18C>A) c.621-18C>A (n.621-18C>A) | |
11 | g.2768826C= | CA1948309852 | KCNQ1 | c.1158-18C= (n.1158-18C=) c.975-18C= (n.975-18C=) c.1515-18C= (n.1515-18C=) c.1134-18C= (n.1134-18C=) c.621-18C= (n.621-18C=) | |
11 | g.2768826C>T | CA675145839 | KCNQ1 | c.1158-18C>T (n.1158-18C>T) c.975-18C>T (n.975-18C>T) c.1515-18C>T (n.1515-18C>T) c.1134-18C>T (n.1134-18C>T) c.621-18C>T (n.621-18C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2768827T>C | CA2612008588 | KCNQ1 | c.1158-17T>C (n.1158-17T>C) c.975-17T>C (n.975-17T>C) c.1515-17T>C (n.1515-17T>C) c.1134-17T>C (n.1134-17T>C) c.621-17T>C (n.621-17T>C) | gnomAD v4 |
11 | g.2768828C= | CA1948309856 | KCNQ1 | c.1158-16C= (n.1158-16C=) c.975-16C= (n.975-16C=) c.1515-16C= (n.1515-16C=) c.1134-16C= (n.1134-16C=) c.621-16C= (n.621-16C=) | |
11 | g.2768828C>T | CA030451 | KCNQ1 | c.1158-16C>T (n.1158-16C>T) c.975-16C>T (n.975-16C>T) c.1515-16C>T (n.1515-16C>T) c.1134-16C>T (n.1134-16C>T) c.621-16C>T (n.621-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768829C>A | CA597109699 | KCNQ1 | c.1158-15C>A (n.1158-15C>A) c.975-15C>A (n.975-15C>A) c.1515-15C>A (n.1515-15C>A) c.1134-15C>A (n.1134-15C>A) c.621-15C>A (n.621-15C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768829C= | CA1948309860 | KCNQ1 | c.1158-15C= (n.1158-15C=) c.975-15C= (n.975-15C=) c.1515-15C= (n.1515-15C=) c.1134-15C= (n.1134-15C=) c.621-15C= (n.621-15C=) | |
11 | g.2768829C>G | CA675145841 | KCNQ1 | c.1158-15C>G (n.1158-15C>G) c.975-15C>G (n.975-15C>G) c.1515-15C>G (n.1515-15C>G) c.1134-15C>G (n.1134-15C>G) c.621-15C>G (n.621-15C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2768829C>T | CA934476662 | KCNQ1 | c.1158-15C>T (n.1158-15C>T) c.975-15C>T (n.975-15C>T) c.1515-15C>T (n.1515-15C>T) c.1134-15C>T (n.1134-15C>T) c.621-15C>T (n.621-15C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2768832_2768835del | CA2790207506 | KCNQ1 | c.1158-12_1158-9del (n.1158-12_1158-9del) c.975-12_975-9del (n.975-12_975-9del) c.1515-12_1515-9del (n.1515-12_1515-9del) c.1134-12_1134-9del (n.1134-12_1134-9del) c.621-12_621-9del (n.621-12_621-9del) | |
11 | g.2768831C>A | CA2612008590 | KCNQ1 | c.1158-13C>A (n.1158-13C>A) c.975-13C>A (n.975-13C>A) c.1515-13C>A (n.1515-13C>A) c.1134-13C>A (n.1134-13C>A) c.621-13C>A (n.621-13C>A) | gnomAD v4 |
11 | g.2768831C>G | CA2499220876 | KCNQ1 | c.1158-13C>G (n.1158-13C>G) c.975-13C>G (n.975-13C>G) c.1515-13C>G (n.1515-13C>G) c.1134-13C>G (n.1134-13C>G) c.621-13C>G (n.621-13C>G) | ClinVar dbSNP |
11 | g.2768833C>G | CA2612008593 | KCNQ1 | c.1158-11C>G (n.1158-11C>G) c.975-11C>G (n.975-11C>G) c.1515-11C>G (n.1515-11C>G) c.1134-11C>G (n.1134-11C>G) c.621-11C>G (n.621-11C>G) | gnomAD v4 |
11 | g.2768834T>C | CA2739276117 | KCNQ1 | c.1158-10T>C (n.1158-10T>C) c.975-10T>C (n.975-10T>C) c.1515-10T>C (n.1515-10T>C) c.1134-10T>C (n.1134-10T>C) c.621-10T>C (n.621-10T>C) | ClinVar |
11 | g.2768835C>A | CA2612008595 | KCNQ1 | c.1158-9C>A (n.1158-9C>A) c.975-9C>A (n.975-9C>A) c.1515-9C>A (n.1515-9C>A) c.1134-9C>A (n.1134-9C>A) c.621-9C>A (n.621-9C>A) | gnomAD v4 |
11 | g.2768835C>G | CA2838305493 | KCNQ1 | c.1158-9C>G (n.1158-9C>G) c.975-9C>G (n.975-9C>G) c.1515-9C>G (n.1515-9C>G) c.1134-9C>G (n.1134-9C>G) c.621-9C>G (n.621-9C>G) | |
11 | g.2768836dup | CA2841261028 | KCNQ1 | c.1158-8dup (n.1158-8dup) c.975-8dup (n.975-8dup) c.1515-8dup (n.1515-8dup) c.1134-8dup (n.1134-8dup) c.621-8dup (n.621-8dup) | |
11 | g.2768837A= | CA1948309861 | KCNQ1 | c.1158-7A= (n.1158-7A=) c.975-7A= (n.975-7A=) c.1515-7A= (n.1515-7A=) c.1134-7A= (n.1134-7A=) c.621-7A= (n.621-7A=) | |
11 | g.2768837_2768838insGC | CA10582885 | KCNQ1 | c.1158-7_1158-6insGC (n.1158-7_1158-6insGC) c.975-7_975-6insGC (n.975-7_975-6insGC) c.1515-7_1515-6insGC (n.1515-7_1515-6insGC) c.1134-7_1134-6insGC (n.1134-7_1134-6insGC) c.621-7_621-6insGC (n.621-7_621-6insGC) | ClinVar dbSNP |
11 | g.2768838C= | CA1948309864 | KCNQ1 | c.1158-6C= (n.1158-6C=) c.975-6C= (n.975-6C=) c.1515-6C= (n.1515-6C=) c.1134-6C= (n.1134-6C=) c.621-6C= (n.621-6C=) | |
11 | g.2768838C>T | CA216314780 | KCNQ1 | c.1158-6C>T (n.1158-6C>T) c.975-6C>T (n.975-6C>T) c.1515-6C>T (n.1515-6C>T) c.1134-6C>T (n.1134-6C>T) c.621-6C>T (n.621-6C>T) | dbSNP gnomAD v4 |
11 | g.2768840G>A | CA2573050756 | KCNQ1 | c.1158-4G>A (n.1158-4G>A) c.975-4G>A (n.975-4G>A) c.1515-4G>A (n.1515-4G>A) c.1134-4G>A (n.1134-4G>A) c.621-4G>A (n.621-4G>A) | |
11 | g.2768841C>A | CA2612008601 | KCNQ1 | c.1158-3C>A (n.1158-3C>A) c.975-3C>A (n.975-3C>A) c.1515-3C>A (n.1515-3C>A) c.1134-3C>A (n.1134-3C>A) c.621-3C>A (n.621-3C>A) | ClinVar gnomAD v4 |
11 | g.2768841C= | CA1948309869 | KCNQ1 | c.1158-3C= (n.1158-3C=) c.975-3C= (n.975-3C=) c.1515-3C= (n.1515-3C=) c.1134-3C= (n.1134-3C=) c.621-3C= (n.621-3C=) | |
11 | g.2768841C>G | CA2612008602 | KCNQ1 | c.1158-3C>G (n.1158-3C>G) c.975-3C>G (n.975-3C>G) c.1515-3C>G (n.1515-3C>G) c.1134-3C>G (n.1134-3C>G) c.621-3C>G (n.621-3C>G) | gnomAD v4 |
11 | g.2768841C>T | CA913187627 | KCNQ1 | c.1158-3C>T (n.1158-3C>T) c.975-3C>T (n.975-3C>T) c.1515-3C>T (n.1515-3C>T) c.1134-3C>T (n.1134-3C>T) c.621-3C>T (n.621-3C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2768841_2768843delinsCAG | CA1948309866 | KCNQ1 | c.1158-3_1158-1delinsCAG (n.1158-3_1158-1delinsCAG) c.975-3_975-1delinsCAG (n.975-3_975-1delinsCAG) c.1515-3_1515-1delinsCAG (n.1515-3_1515-1delinsCAG) c.1134-3_1134-1delinsCAG (n.1134-3_1134-1delinsCAG) c.621-3_621-1delinsCAG (n.621-3_621-1delinsCAG) | |
11 | g.2768842A= | CA1948309876 | KCNQ1 | c.1158-2A= (n.1158-2A=) c.975-2A= (n.975-2A=) c.1515-2A= (n.1515-2A=) c.1134-2A= (n.1134-2A=) c.621-2A= (n.621-2A=) | |
11 | g.2768842A>C | CA379138887 | KCNQ1 | c.1158-2A>C (n.1158-2A>C) c.975-2A>C (n.975-2A>C) c.1515-2A>C (n.1515-2A>C) c.1134-2A>C (n.1134-2A>C) c.621-2A>C (n.621-2A>C) | |
11 | g.2768842A>G | CA005838 | KCNQ1 | c.1158-2A>G (n.1158-2A>G) c.975-2A>G (n.975-2A>G) c.1515-2A>G (n.1515-2A>G) c.1134-2A>G (n.1134-2A>G) c.621-2A>G (n.621-2A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.2768842A>T | CA379138888 | KCNQ1 | c.1158-2A>T (n.1158-2A>T) c.975-2A>T (n.975-2A>T) c.1515-2A>T (n.1515-2A>T) c.1134-2A>T (n.1134-2A>T) c.621-2A>T (n.621-2A>T) | |
11 | g.2768842_2768843del | CA891842694 | KCNQ1 | c.1158-2_1158-1del (n.1158-2_1158-1del) c.975-2_975-1del (n.975-2_975-1del) c.1515-2_1515-1del (n.1515-2_1515-1del) c.1134-2_1134-1del (n.1134-2_1134-1del) c.621-2_621-1del (n.621-2_621-1del) | ClinVar dbSNP |
11 | g.2768843G>A | CA379138889 | KCNQ1 | c.1158-1G>A (n.1158-1G>A) c.975-1G>A (n.975-1G>A) c.1515-1G>A (n.1515-1G>A) c.1134-1G>A (n.1134-1G>A) c.621-1G>A (n.621-1G>A) | |
11 | g.2768843G>C | CA379138891 | KCNQ1 | c.1158-1G>C (n.1158-1G>C) c.975-1G>C (n.975-1G>C) c.1515-1G>C (n.1515-1G>C) c.1134-1G>C (n.1134-1G>C) c.621-1G>C (n.621-1G>C) | |
11 | g.2768843G>T | CA379138890 | KCNQ1 | c.1158-1G>T (n.1158-1G>T) c.975-1G>T (n.975-1G>T) c.1515-1G>T (n.1515-1G>T) c.1134-1G>T (n.1134-1G>T) c.621-1G>T (n.621-1G>T) | |
11 | g.2768844G>A | CA472459419 | KCNQ1 | c.1158G>A (p.Gln386=) c.975G>A (p.Gln325=) c.1515G>A (p.Gln505=) c.1134G>A (p.Gln378=) c.621G>A (p.Gln207=) | ClinVar |
11 | g.2768844G>C | CA379138892 | KCNQ1 | c.1158G>C (p.Gln386His) c.975G>C (p.Gln325His) c.1515G>C (p.Gln505His) c.1134G>C (p.Gln378His) c.621G>C (p.Gln207His) | |
11 | g.2768844G>T | CA379138893 | KCNQ1 | c.1158G>T (p.Gln386His) c.975G>T (p.Gln325His) c.1515G>T (p.Gln505His) c.1134G>T (p.Gln378His) c.621G>T (p.Gln207His) | |
11 | g.2768845C>A | CA379138894 | KCNQ1 | c.1159C>A (p.Leu387Met) c.976C>A (p.Leu326Met) c.1516C>A (p.Leu506Met) c.1135C>A (p.Leu379Met) c.622C>A (p.Leu208Met) | |
11 | g.2768845C>G | CA379138895 | KCNQ1 | c.1159C>G (p.Leu387Val) c.976C>G (p.Leu326Val) c.1516C>G (p.Leu506Val) c.1135C>G (p.Leu379Val) c.622C>G (p.Leu208Val) | |
11 | g.2768845C>T | CA472459420 | KCNQ1 | c.1159C>T (p.Leu387=) c.976C>T (p.Leu326=) c.1516C>T (p.Leu506=) c.1135C>T (p.Leu379=) c.622C>T (p.Leu208=) | |
11 | g.2768846T>A | CA379138896 | KCNQ1 | c.1160T>A (p.Leu387Gln) c.977T>A (p.Leu326Gln) c.1517T>A (p.Leu506Gln) c.1136T>A (p.Leu379Gln) c.623T>A (p.Leu208Gln) | |
11 | g.2768846T>C | CA379138897 | KCNQ1 | c.1160T>C (p.Leu387Pro) c.977T>C (p.Leu326Pro) c.1517T>C (p.Leu506Pro) c.1136T>C (p.Leu379Pro) c.623T>C (p.Leu208Pro) | |
11 | g.2768846T>G | CA379138898 | KCNQ1 | c.1160T>G (p.Leu387Arg) c.977T>G (p.Leu326Arg) c.1517T>G (p.Leu506Arg) c.1136T>G (p.Leu379Arg) c.623T>G (p.Leu208Arg) | |
11 | g.2768847G>A | CA030681 | KCNQ1 | c.1161G>A (p.Leu387=) c.978G>A (p.Leu326=) c.1518G>A (p.Leu506=) c.1137G>A (p.Leu379=) c.624G>A (p.Leu208=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768847G>C | CA472459421 | KCNQ1 | c.1161G>C (p.Leu387=) c.978G>C (p.Leu326=) c.1518G>C (p.Leu506=) c.1137G>C (p.Leu379=) c.624G>C (p.Leu208=) | |
11 | g.2768847G= | CA1948309882 | KCNQ1 | c.1161G= (p.Leu387=) c.978G= (p.Leu326=) c.1518G= (p.Leu506=) c.1137G= (p.Leu379=) c.624G= (p.Leu208=) | |
11 | g.2768847G>T | CA472459422 | KCNQ1 | c.1161G>T (p.Leu387=) c.978G>T (p.Leu326=) c.1518G>T (p.Leu506=) c.1137G>T (p.Leu379=) c.624G>T (p.Leu208=) | |
11 | g.2768848C>A | CA472459423 | KCNQ1 | c.1162C>A (p.Arg388=) c.979C>A (p.Arg327=) c.1519C>A (p.Arg507=) c.1138C>A (p.Arg380=) c.625C>A (p.Arg209=) | gnomAD v4 |
11 | g.2768848C= | CA1948309885 | KCNQ1 | c.1162C= (p.Arg388=) c.979C= (p.Arg327=) c.1519C= (p.Arg507=) c.1138C= (p.Arg380=) c.625C= (p.Arg209=) | |
11 | g.2768848C>G | CA379138899 | KCNQ1 | c.1162C>G (p.Arg388Gly) c.979C>G (p.Arg327Gly) c.1519C>G (p.Arg507Gly) c.1138C>G (p.Arg380Gly) c.625C>G (p.Arg209Gly) | |
11 | g.2768848C>T | CA030698 | KCNQ1 | c.1162C>T (p.Arg388Trp) c.979C>T (p.Arg327Trp) c.1519C>T (p.Arg507Trp) c.1138C>T (p.Arg380Trp) c.625C>T (p.Arg209Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768849G>A | CA030713 | KCNQ1 | c.1163G>A (p.Arg388Gln) c.980G>A (p.Arg327Gln) c.1520G>A (p.Arg507Gln) c.1139G>A (p.Arg380Gln) c.626G>A (p.Arg209Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768849G>C | CA379138900 | KCNQ1 | c.1163G>C (p.Arg388Pro) c.980G>C (p.Arg327Pro) c.1520G>C (p.Arg507Pro) c.1139G>C (p.Arg380Pro) c.626G>C (p.Arg209Pro) | |
11 | g.2768849G= | CA1948309890 | KCNQ1 | c.1163G= (p.Arg388=) c.980G= (p.Arg327=) c.1520G= (p.Arg507=) c.1139G= (p.Arg380=) c.626G= (p.Arg209=) | |
11 | g.2768849G>T | CA379138901 | KCNQ1 | c.1163G>T (p.Arg388Leu) c.980G>T (p.Arg327Leu) c.1520G>T (p.Arg507Leu) c.1139G>T (p.Arg380Leu) c.626G>T (p.Arg209Leu) | |
11 | g.2768850G>A | CA472459424 | KCNQ1 | c.1164G>A (p.Arg388=) c.981G>A (p.Arg327=) c.1521G>A (p.Arg507=) c.1140G>A (p.Arg380=) c.627G>A (p.Arg209=) | ClinVar dbSNP |
11 | g.2768850G>C | CA472459425 | KCNQ1 | c.1164G>C (p.Arg388=) c.981G>C (p.Arg327=) c.1521G>C (p.Arg507=) c.1140G>C (p.Arg380=) c.627G>C (p.Arg209=) | |
11 | g.2768850G>T | CA472459426 | KCNQ1 | c.1164G>T (p.Arg388=) c.981G>T (p.Arg327=) c.1521G>T (p.Arg507=) c.1140G>T (p.Arg380=) c.627G>T (p.Arg209=) | |
11 | g.2768851G>A | CA379138903 | KCNQ1 | c.1165G>A (p.Glu389Lys) c.982G>A (p.Glu328Lys) c.1522G>A (p.Glu508Lys) c.1141G>A (p.Glu381Lys) c.628G>A (p.Glu210Lys) | gnomAD v4 |
11 | g.2768851G>C | CA379138902 | KCNQ1 | c.1165G>C (p.Glu389Gln) c.982G>C (p.Glu328Gln) c.1522G>C (p.Glu508Gln) c.1141G>C (p.Glu381Gln) c.628G>C (p.Glu210Gln) | |
11 | g.2768851G= | CA1948309896 | KCNQ1 | c.1165G= (p.Glu389=) c.982G= (p.Glu328=) c.1522G= (p.Glu508=) c.1141G= (p.Glu381=) c.628G= (p.Glu210=) | |
11 | g.2768851G>T | CA005847 | KCNQ1 | c.1165G>T (p.Glu389Ter) c.982G>T (p.Glu328Ter) c.1522G>T (p.Glu508Ter) c.1141G>T (p.Glu381Ter) c.628G>T (p.Glu210Ter) | ClinVar dbSNP |
11 | g.2768851_2768852delinsGA | CA1948309894 | KCNQ1 | c.1165_1166delinsGA (p.Glu389=) c.982_983delinsGA (p.Glu328=) c.1522_1523delinsGA (p.Glu508=) c.1141_1142delinsGA (p.Glu381=) c.628_629delinsGA (p.Glu210=) | |
11 | g.2768852A= | CA1948309942 | KCNQ1 | c.1166A= (p.Glu389=) c.983A= (p.Glu328=) c.1523A= (p.Glu508=) c.1142A= (p.Glu381=) c.629A= (p.Glu210=) | |
11 | g.2768852A>C | CA379138904 | KCNQ1 | c.1166A>C (p.Glu389Ala) c.983A>C (p.Glu328Ala) c.1523A>C (p.Glu508Ala) c.1142A>C (p.Glu381Ala) c.629A>C (p.Glu210Ala) | |
11 | g.2768852A>G | CA379138905 | KCNQ1 | c.1166A>G (p.Glu389Gly) c.983A>G (p.Glu328Gly) c.1523A>G (p.Glu508Gly) c.1142A>G (p.Glu381Gly) c.629A>G (p.Glu210Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768852A>T | CA379138906 | KCNQ1 | c.1166A>T (p.Glu389Val) c.983A>T (p.Glu328Val) c.1523A>T (p.Glu508Val) c.1142A>T (p.Glu381Val) c.629A>T (p.Glu210Val) | |
11 | g.2768853del | CA891842695 | KCNQ1 | c.1167del (p.Glu389AspfsTer?) c.984del (p.Glu328AspfsTer?) c.1524del (p.Glu508AspfsTer?) c.1143del (p.Glu381AspfsTer?) c.630del (p.Glu210AspfsTer?) | ClinVar dbSNP |
11 | g.2768854_2768873del | CA2580082627 | KCNQ1 | c.1168_1187del (p.His390GlyfsTer28) c.985_1004del (p.His329GlyfsTer28) c.1525_1544del (p.His509GlyfsTer28) c.1144_1163del (p.His382GlyfsTer28) c.631_650del (p.His211GlyfsTer28) | ClinVar gnomAD v4 |
11 | g.2768853A>C | CA379138907 | KCNQ1 | c.1167A>C (p.Glu389Asp) c.984A>C (p.Glu328Asp) c.1524A>C (p.Glu508Asp) c.1143A>C (p.Glu381Asp) c.630A>C (p.Glu210Asp) | |
11 | g.2768853A>G | CA472459427 | KCNQ1 | c.1167A>G (p.Glu389=) c.984A>G (p.Glu328=) c.1524A>G (p.Glu508=) c.1143A>G (p.Glu381=) c.630A>G (p.Glu210=) | |
11 | g.2768853A>T | CA379138908 | KCNQ1 | c.1167A>T (p.Glu389Asp) c.984A>T (p.Glu328Asp) c.1524A>T (p.Glu508Asp) c.1143A>T (p.Glu381Asp) c.630A>T (p.Glu210Asp) | |
11 | g.2768854C>A | CA379138909 | KCNQ1 | c.1168C>A (p.His390Asn) c.985C>A (p.His329Asn) c.1525C>A (p.His509Asn) c.1144C>A (p.His382Asn) c.631C>A (p.His211Asn) | |
11 | g.2768854C>G | CA379138910 | KCNQ1 | c.1168C>G (p.His390Asp) c.985C>G (p.His329Asp) c.1525C>G (p.His509Asp) c.1144C>G (p.His382Asp) c.631C>G (p.His211Asp) | |
11 | g.2768854C>T | CA379138911 | KCNQ1 | c.1168C>T (p.His390Tyr) c.985C>T (p.His329Tyr) c.1525C>T (p.His509Tyr) c.1144C>T (p.His382Tyr) c.631C>T (p.His211Tyr) | gnomAD v4 |
11 | g.2768855A= | CA1948309946 | KCNQ1 | c.1169A= (p.His390=) c.986A= (p.His329=) c.1526A= (p.His509=) c.1145A= (p.His382=) c.632A= (p.His211=) | |
11 | g.2768855A>C | CA379138912 | KCNQ1 | c.1169A>C (p.His390Pro) c.986A>C (p.His329Pro) c.1526A>C (p.His509Pro) c.1145A>C (p.His382Pro) c.632A>C (p.His211Pro) | |
11 | g.2768855A>G | CA379138913 | KCNQ1 | c.1169A>G (p.His390Arg) c.986A>G (p.His329Arg) c.1526A>G (p.His509Arg) c.1145A>G (p.His382Arg) c.632A>G (p.His211Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768855A>T | CA379138914 | KCNQ1 | c.1169A>T (p.His390Leu) c.986A>T (p.His329Leu) c.1526A>T (p.His509Leu) c.1145A>T (p.His382Leu) c.632A>T (p.His211Leu) | |
11 | g.2768855_2768856delinsAC | CA1948309949 | KCNQ1 | c.1169_1170delinsAC (p.His390=) c.986_987delinsAC (p.His329=) c.1526_1527delinsAC (p.His509=) c.1145_1146delinsAC (p.His382=) c.632_633delinsAC (p.His211=) | |
11 | g.2768856C>A | CA379138916 | KCNQ1 | c.1170C>A (p.His390Gln) c.987C>A (p.His329Gln) c.1527C>A (p.His509Gln) c.1146C>A (p.His382Gln) c.633C>A (p.His211Gln) | ClinVar |
11 | g.2768856C= | CA1948309954 | KCNQ1 | c.1170C= (p.His390=) c.987C= (p.His329=) c.1527C= (p.His509=) c.1146C= (p.His382=) c.633C= (p.His211=) | |
11 | g.2768856C>G | CA379138915 | KCNQ1 | c.1170C>G (p.His390Gln) c.987C>G (p.His329Gln) c.1527C>G (p.His509Gln) c.1146C>G (p.His382Gln) c.633C>G (p.His211Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768856C>T | CA030744 | KCNQ1 | c.1170C>T (p.His390=) c.987C>T (p.His329=) c.1527C>T (p.His509=) c.1146C>T (p.His382=) c.633C>T (p.His211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768857del | CA597109700 | KCNQ1 | c.1171del (p.His391IlefsTer?) c.988del (p.His330IlefsTer?) c.1528del (p.His510IlefsTer?) c.1147del (p.His383IlefsTer?) c.634del (p.His212IlefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768857C>A | CA379138917 | KCNQ1 | c.1171C>A (p.His391Asn) c.988C>A (p.His330Asn) c.1528C>A (p.His510Asn) c.1147C>A (p.His383Asn) c.634C>A (p.His212Asn) | |
11 | g.2768857C= | CA1948309958 | KCNQ1 | c.1171C= (p.His391=) c.988C= (p.His330=) c.1528C= (p.His510=) c.1147C= (p.His383=) c.634C= (p.His212=) | |
11 | g.2768857C>G | CA379138919 | KCNQ1 | c.1171C>G (p.His391Asp) c.988C>G (p.His330Asp) c.1528C>G (p.His510Asp) c.1147C>G (p.His383Asp) c.634C>G (p.His212Asp) | |
11 | g.2768857C>T | CA379138918 | KCNQ1 | c.1171C>T (p.His391Tyr) c.988C>T (p.His330Tyr) c.1528C>T (p.His510Tyr) c.1147C>T (p.His383Tyr) c.634C>T (p.His212Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768858A= | CA1948309960 | KCNQ1 | c.1172A= (p.His391=) c.989A= (p.His330=) c.1529A= (p.His510=) c.1148A= (p.His383=) c.635A= (p.His212=) | |
11 | g.2768858A>C | CA379138920 | KCNQ1 | c.1172A>C (p.His391Pro) c.989A>C (p.His330Pro) c.1529A>C (p.His510Pro) c.1148A>C (p.His383Pro) c.635A>C (p.His212Pro) | ClinVar dbSNP |
11 | g.2768858A>G | CA379138921 | KCNQ1 | c.1172A>G (p.His391Arg) c.989A>G (p.His330Arg) c.1529A>G (p.His510Arg) c.1148A>G (p.His383Arg) c.635A>G (p.His212Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768858A>T | CA379138922 | KCNQ1 | c.1172A>T (p.His391Leu) c.989A>T (p.His330Leu) c.1529A>T (p.His510Leu) c.1148A>T (p.His383Leu) c.635A>T (p.His212Leu) | |
11 | g.2768859T>A | CA379138923 | KCNQ1 | c.1173T>A (p.His391Gln) c.990T>A (p.His330Gln) c.1530T>A (p.His510Gln) c.1149T>A (p.His383Gln) c.636T>A (p.His212Gln) | |
11 | g.2768859T>C | CA472459428 | KCNQ1 | c.1173T>C (p.His391=) c.990T>C (p.His330=) c.1530T>C (p.His510=) c.1149T>C (p.His383=) c.636T>C (p.His212=) | |
11 | g.2768859T>G | CA379138924 | KCNQ1 | c.1173T>G (p.His391Gln) c.990T>G (p.His330Gln) c.1530T>G (p.His510Gln) c.1149T>G (p.His383Gln) c.636T>G (p.His212Gln) | |
11 | g.2768860C>A | CA472459429 | KCNQ1 | c.1174C>A (p.Arg392=) c.991C>A (p.Arg331=) c.1531C>A (p.Arg511=) c.1150C>A (p.Arg384=) c.637C>A (p.Arg213=) | |
11 | g.2768860C= | CA1948309966 | KCNQ1 | c.1174C= (p.Arg392=) c.991C= (p.Arg331=) c.1531C= (p.Arg511=) c.1150C= (p.Arg384=) c.637C= (p.Arg213=) | |
11 | g.2768860C>G | CA379138925 | KCNQ1 | c.1174C>G (p.Arg392Gly) c.991C>G (p.Arg331Gly) c.1531C>G (p.Arg511Gly) c.1150C>G (p.Arg384Gly) c.637C>G (p.Arg213Gly) | |
11 | g.2768860C>T | CA005853 | KCNQ1 | c.1174C>T (p.Arg392Trp) c.991C>T (p.Arg331Trp) c.1531C>T (p.Arg511Trp) c.1150C>T (p.Arg384Trp) c.637C>T (p.Arg213Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768860_2768861delinsCG | CA1948309968 | KCNQ1 | c.1174_1175delinsCG (p.Arg392=) c.991_992delinsCG (p.Arg331=) c.1531_1532delinsCG (p.Arg511=) c.1150_1151delinsCG (p.Arg384=) c.637_638delinsCG (p.Arg213=) | |
11 | g.2768861G>A | CA030773 | KCNQ1 | c.1175G>A (p.Arg392Gln) c.992G>A (p.Arg331Gln) c.1532G>A (p.Arg511Gln) c.1151G>A (p.Arg384Gln) c.638G>A (p.Arg213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768861G>C | CA379138926 | KCNQ1 | c.1175G>C (p.Arg392Pro) c.992G>C (p.Arg331Pro) c.1532G>C (p.Arg511Pro) c.1151G>C (p.Arg384Pro) c.638G>C (p.Arg213Pro) | |
11 | g.2768861G= | CA1948309975 | KCNQ1 | c.1175G= (p.Arg392=) c.992G= (p.Arg331=) c.1532G= (p.Arg511=) c.1151G= (p.Arg384=) c.638G= (p.Arg213=) | |
11 | g.2768861G>T | CA379138927 | KCNQ1 | c.1175G>T (p.Arg392Leu) c.992G>T (p.Arg331Leu) c.1532G>T (p.Arg511Leu) c.1151G>T (p.Arg384Leu) c.638G>T (p.Arg213Leu) | |
11 | g.2768863del | CA658683667 | KCNQ1 | c.1177del (p.Ala393ProfsTer?) c.994del (p.Ala332ProfsTer?) c.1534del (p.Ala512ProfsTer?) c.1153del (p.Ala385ProfsTer?) c.640del (p.Ala214ProfsTer?) | ClinVar dbSNP |
11 | g.2768862G>A | CA030789 | KCNQ1 | c.1176G>A (p.Arg392=) c.993G>A (p.Arg331=) c.1533G>A (p.Arg511=) c.1152G>A (p.Arg384=) c.639G>A (p.Arg213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768862G>C | CA472459430 | KCNQ1 | c.1176G>C (p.Arg392=) c.993G>C (p.Arg331=) c.1533G>C (p.Arg511=) c.1152G>C (p.Arg384=) c.639G>C (p.Arg213=) | |
11 | g.2768862G= | CA1948309979 | KCNQ1 | c.1176G= (p.Arg392=) c.993G= (p.Arg331=) c.1533G= (p.Arg511=) c.1152G= (p.Arg384=) c.639G= (p.Arg213=) | |
11 | g.2768862G>T | CA472459431 | KCNQ1 | c.1176G>T (p.Arg392=) c.993G>T (p.Arg331=) c.1533G>T (p.Arg511=) c.1152G>T (p.Arg384=) c.639G>T (p.Arg213=) | |
11 | g.2768863G>A | CA379138928 | KCNQ1 | c.1177G>A (p.Ala393Thr) c.994G>A (p.Ala332Thr) c.1534G>A (p.Ala512Thr) c.1153G>A (p.Ala385Thr) c.640G>A (p.Ala214Thr) | |
11 | g.2768863G>C | CA379138929 | KCNQ1 | c.1177G>C (p.Ala393Pro) c.994G>C (p.Ala332Pro) c.1534G>C (p.Ala512Pro) c.1153G>C (p.Ala385Pro) c.640G>C (p.Ala214Pro) | |
11 | g.2768863G>T | CA379138930 | KCNQ1 | c.1177G>T (p.Ala393Ser) c.994G>T (p.Ala332Ser) c.1534G>T (p.Ala512Ser) c.1153G>T (p.Ala385Ser) c.640G>T (p.Ala214Ser) | dbSNP |
11 | g.2768864C>A | CA379138933 | KCNQ1 | c.1178C>A (p.Ala393Asp) c.995C>A (p.Ala332Asp) c.1535C>A (p.Ala512Asp) c.1154C>A (p.Ala385Asp) c.641C>A (p.Ala214Asp) | ClinVar |
11 | g.2768864C>G | CA379138932 | KCNQ1 | c.1178C>G (p.Ala393Gly) c.995C>G (p.Ala332Gly) c.1535C>G (p.Ala512Gly) c.1154C>G (p.Ala385Gly) c.641C>G (p.Ala214Gly) | |
11 | g.2768864C>T | CA379138931 | KCNQ1 | c.1178C>T (p.Ala393Val) c.995C>T (p.Ala332Val) c.1535C>T (p.Ala512Val) c.1154C>T (p.Ala385Val) c.641C>T (p.Ala214Val) | |
11 | g.2768865C>A | CA472459432 | KCNQ1 | c.1179C>A (p.Ala393=) c.996C>A (p.Ala332=) c.1536C>A (p.Ala512=) c.1155C>A (p.Ala385=) c.642C>A (p.Ala214=) | |
11 | g.2768865C>G | CA472459433 | KCNQ1 | c.1179C>G (p.Ala393=) c.996C>G (p.Ala332=) c.1536C>G (p.Ala512=) c.1155C>G (p.Ala385=) c.642C>G (p.Ala214=) | |
11 | g.2768865C>T | CA472459434 | KCNQ1 | c.1179C>T (p.Ala393=) c.996C>T (p.Ala332=) c.1536C>T (p.Ala512=) c.1155C>T (p.Ala385=) c.642C>T (p.Ala214=) | |
11 | g.2768866A= | CA1948309984 | KCNQ1 | c.1180A= (p.Thr394=) c.997A= (p.Thr333=) c.1537A= (p.Thr513=) c.1156A= (p.Thr386=) c.643A= (p.Thr215=) | |
11 | g.2768866A>C | CA379138934 | KCNQ1 | c.1180A>C (p.Thr394Pro) c.997A>C (p.Thr333Pro) c.1537A>C (p.Thr513Pro) c.1156A>C (p.Thr386Pro) c.643A>C (p.Thr215Pro) | |
11 | g.2768866A>G | CA379138935 | KCNQ1 | c.1180A>G (p.Thr394Ala) c.997A>G (p.Thr333Ala) c.1537A>G (p.Thr513Ala) c.1156A>G (p.Thr386Ala) c.643A>G (p.Thr215Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768866A>T | CA030811 | KCNQ1 | c.1180A>T (p.Thr394Ser) c.997A>T (p.Thr333Ser) c.1537A>T (p.Thr513Ser) c.1156A>T (p.Thr386Ser) c.643A>T (p.Thr215Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768866_2768867delinsAC | CA1948309987 | KCNQ1 | c.1180_1181delinsAC (p.Thr394=) c.997_998delinsAC (p.Thr333=) c.1537_1538delinsAC (p.Thr513=) c.1156_1157delinsAC (p.Thr386=) c.643_644delinsAC (p.Thr215=) | |
11 | g.2768867C>A | CA379138936 | KCNQ1 | c.1181C>A (p.Thr394Asn) c.998C>A (p.Thr333Asn) c.1538C>A (p.Thr513Asn) c.1157C>A (p.Thr386Asn) c.644C>A (p.Thr215Asn) | |
11 | g.2768867C>G | CA379138937 | KCNQ1 | c.1181C>G (p.Thr394Ser) c.998C>G (p.Thr333Ser) c.1538C>G (p.Thr513Ser) c.1157C>G (p.Thr386Ser) c.644C>G (p.Thr215Ser) | |
11 | g.2768867C>T | CA379138938 | KCNQ1 | c.1181C>T (p.Thr394Ile) c.998C>T (p.Thr333Ile) c.1538C>T (p.Thr513Ile) c.1157C>T (p.Thr386Ile) c.644C>T (p.Thr215Ile) | gnomAD v4 |
11 | g.2768868del | CA005860 | KCNQ1 | c.1182del (p.Ile395LeufsTer?) c.999del (p.Ile334LeufsTer?) c.1539del (p.Ile514LeufsTer?) c.1158del (p.Ile387LeufsTer?) c.645del (p.Ile216LeufsTer?) | ClinVar dbSNP |
11 | g.2768868C>A | CA472459438 | KCNQ1 | c.1182C>A (p.Thr394=) c.999C>A (p.Thr333=) c.1539C>A (p.Thr513=) c.1158C>A (p.Thr386=) c.645C>A (p.Thr215=) | |
11 | g.2768868C= | CA1948309992 | KCNQ1 | c.1182C= (p.Thr394=) c.999C= (p.Thr333=) c.1539C= (p.Thr513=) c.1158C= (p.Thr386=) c.645C= (p.Thr215=) | |
11 | g.2768868C>G | CA472459437 | KCNQ1 | c.1182C>G (p.Thr394=) c.999C>G (p.Thr333=) c.1539C>G (p.Thr513=) c.1158C>G (p.Thr386=) c.645C>G (p.Thr215=) | ClinVar dbSNP |
11 | g.2768868C>T | CA472459436 | KCNQ1 | c.1182C>T (p.Thr394=) c.999C>T (p.Thr333=) c.1539C>T (p.Thr513=) c.1158C>T (p.Thr386=) c.645C>T (p.Thr215=) | |
11 | g.2768869A= | CA1948309995 | KCNQ1 | c.1183A= (p.Ile395=) c.1000A= (p.Ile334=) c.1540A= (p.Ile514=) c.1159A= (p.Ile387=) c.646A= (p.Ile216=) | |
11 | g.2768869A>C | CA379138939 | KCNQ1 | c.1183A>C (p.Ile395Leu) c.1000A>C (p.Ile334Leu) c.1540A>C (p.Ile514Leu) c.1159A>C (p.Ile387Leu) c.646A>C (p.Ile216Leu) | |
11 | g.2768869A>G | CA379138940 | KCNQ1 | c.1183A>G (p.Ile395Val) c.1000A>G (p.Ile334Val) c.1540A>G (p.Ile514Val) c.1159A>G (p.Ile387Val) c.646A>G (p.Ile216Val) | ClinVar dbSNP gnomAD v4 |
11 | g.2768869A>T | CA379138941 | KCNQ1 | c.1183A>T (p.Ile395Phe) c.1000A>T (p.Ile334Phe) c.1540A>T (p.Ile514Phe) c.1159A>T (p.Ile387Phe) c.646A>T (p.Ile216Phe) | |
11 | g.2768869_2768879delinsATTAAGGTCAT | CA1948309997 | KCNQ1 | c.1183_1193delinsATTAAGGTCAT (p.Ile395=) c.1000_1010delinsATTAAGGTCAT (p.Ile334=) c.1540_1550delinsATTAAGGTCAT (p.Ile514=) c.1159_1169delinsATTAAGGTCAT (p.Ile387=) c.646_656delinsATTAAGGTCAT (p.Ile216=) | |
11 | g.2768870T>A | CA379138942 | KCNQ1 | c.1184T>A (p.Ile395Asn) c.1001T>A (p.Ile334Asn) c.1541T>A (p.Ile514Asn) c.1160T>A (p.Ile387Asn) c.647T>A (p.Ile216Asn) | |
11 | g.2768870T>C | CA005875 | KCNQ1 | c.1184T>C (p.Ile395Thr) c.1001T>C (p.Ile334Thr) c.1541T>C (p.Ile514Thr) c.1160T>C (p.Ile387Thr) c.647T>C (p.Ile216Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.2768870T>G | CA379138943 | KCNQ1 | c.1184T>G (p.Ile395Ser) c.1001T>G (p.Ile334Ser) c.1541T>G (p.Ile514Ser) c.1160T>G (p.Ile387Ser) c.647T>G (p.Ile216Ser) | |
11 | g.2768870T= | CA1948310002 | KCNQ1 | c.1184T= (p.Ile395=) c.1001T= (p.Ile334=) c.1541T= (p.Ile514=) c.1160T= (p.Ile387=) c.647T= (p.Ile216=) | |
11 | g.2768871_2768880del | CA916080421 | KCNQ1 | c.1185_1194del (p.Lys396AspfsTer?) c.1002_1011del (p.Lys335AspfsTer?) c.1542_1551del (p.Lys515AspfsTer?) c.1161_1170del (p.Lys388AspfsTer?) c.648_657del (p.Lys217AspfsTer?) | ClinVar dbSNP |
11 | g.2768871T>A | CA472459439 | KCNQ1 | c.1185T>A (p.Ile395=) c.1002T>A (p.Ile334=) c.1542T>A (p.Ile514=) c.1161T>A (p.Ile387=) c.648T>A (p.Ile216=) | |
11 | g.2768871T>C | CA472459441 | KCNQ1 | c.1185T>C (p.Ile395=) c.1002T>C (p.Ile334=) c.1542T>C (p.Ile514=) c.1161T>C (p.Ile387=) c.648T>C (p.Ile216=) | |
11 | g.2768871T>G | CA379138944 | KCNQ1 | c.1185T>G (p.Ile395Met) c.1002T>G (p.Ile334Met) c.1542T>G (p.Ile514Met) c.1161T>G (p.Ile387Met) c.648T>G (p.Ile216Met) | |
11 | g.2768872A>C | CA379138946 | KCNQ1 | c.1186A>C (p.Lys396Gln) c.1003A>C (p.Lys335Gln) c.1543A>C (p.Lys515Gln) c.1162A>C (p.Lys388Gln) c.649A>C (p.Lys217Gln) | |
11 | g.2768872A>G | CA379138947 | KCNQ1 | c.1186A>G (p.Lys396Glu) c.1003A>G (p.Lys335Glu) c.1543A>G (p.Lys515Glu) c.1162A>G (p.Lys388Glu) c.649A>G (p.Lys217Glu) | |
11 | g.2768872A>T | CA379138945 | KCNQ1 | c.1186A>T (p.Lys396Ter) c.1003A>T (p.Lys335Ter) c.1543A>T (p.Lys515Ter) c.1162A>T (p.Lys388Ter) c.649A>T (p.Lys217Ter) | |
11 | g.2768873A>C | CA379138948 | KCNQ1 | c.1187A>C (p.Lys396Thr) c.1004A>C (p.Lys335Thr) c.1544A>C (p.Lys515Thr) c.1163A>C (p.Lys388Thr) c.650A>C (p.Lys217Thr) | |
11 | g.2768873A>G | CA379138949 | KCNQ1 | c.1187A>G (p.Lys396Arg) c.1004A>G (p.Lys335Arg) c.1544A>G (p.Lys515Arg) c.1163A>G (p.Lys388Arg) c.650A>G (p.Lys217Arg) | gnomAD v4 |
11 | g.2768873A>T | CA379138950 | KCNQ1 | c.1187A>T (p.Lys396Met) c.1004A>T (p.Lys335Met) c.1544A>T (p.Lys515Met) c.1163A>T (p.Lys388Met) c.650A>T (p.Lys217Met) | |
11 | g.2768874G>A | CA472459442 | KCNQ1 | c.1188G>A (p.Lys396=) c.1005G>A (p.Lys335=) c.1545G>A (p.Lys515=) c.1164G>A (p.Lys388=) c.651G>A (p.Lys217=) | |
11 | g.2768874G>C | CA379138951 | KCNQ1 | c.1188G>C (p.Lys396Asn) c.1005G>C (p.Lys335Asn) c.1545G>C (p.Lys515Asn) c.1164G>C (p.Lys388Asn) c.651G>C (p.Lys217Asn) | |
11 | g.2768874G= | CA1948310007 | KCNQ1 | c.1188G= (p.Lys396=) c.1005G= (p.Lys335=) c.1545G= (p.Lys515=) c.1164G= (p.Lys388=) c.651G= (p.Lys217=) | |
11 | g.2768874G>T | CA005880 | KCNQ1 | c.1188G>T (p.Lys396Asn) c.1005G>T (p.Lys335Asn) c.1545G>T (p.Lys515Asn) c.1164G>T (p.Lys388Asn) c.651G>T (p.Lys217Asn) | ClinVar dbSNP |
11 | g.2768875G>A | CA379138952 | KCNQ1 | c.1189G>A (p.Val397Ile) c.1006G>A (p.Val336Ile) c.1546G>A (p.Val516Ile) c.1165G>A (p.Val389Ile) c.652G>A (p.Val218Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.2768875G>C | CA379138953 | KCNQ1 | c.1189G>C (p.Val397Leu) c.1006G>C (p.Val336Leu) c.1546G>C (p.Val516Leu) c.1165G>C (p.Val389Leu) c.652G>C (p.Val218Leu) | |
11 | g.2768875G= | CA1948310011 | KCNQ1 | c.1189G= (p.Val397=) c.1006G= (p.Val336=) c.1546G= (p.Val516=) c.1165G= (p.Val389=) c.652G= (p.Val218=) | |
11 | g.2768875G>T | CA379138954 | KCNQ1 | c.1189G>T (p.Val397Phe) c.1006G>T (p.Val336Phe) c.1546G>T (p.Val516Phe) c.1165G>T (p.Val389Phe) c.652G>T (p.Val218Phe) | |
11 | g.2768876T>A | CA379138955 | KCNQ1 | c.1190T>A (p.Val397Asp) c.1007T>A (p.Val336Asp) c.1547T>A (p.Val516Asp) c.1166T>A (p.Val389Asp) c.653T>A (p.Val218Asp) | COSMIC COSMIC |
11 | g.2768876T>C | CA379138956 | KCNQ1 | c.1190T>C (p.Val397Ala) c.1007T>C (p.Val336Ala) c.1547T>C (p.Val516Ala) c.1166T>C (p.Val389Ala) c.653T>C (p.Val218Ala) | |
11 | g.2768876T>G | CA379138957 | KCNQ1 | c.1190T>G (p.Val397Gly) c.1007T>G (p.Val336Gly) c.1547T>G (p.Val516Gly) c.1166T>G (p.Val389Gly) c.653T>G (p.Val218Gly) | |
11 | g.2768877C>A | CA472459447 | KCNQ1 | c.1191C>A (p.Val397=) c.1008C>A (p.Val336=) c.1548C>A (p.Val516=) c.1167C>A (p.Val389=) c.654C>A (p.Val218=) | gnomAD v4 |
11 | g.2768877C= | CA1948310013 | KCNQ1 | c.1191C= (p.Val397=) c.1008C= (p.Val336=) c.1548C= (p.Val516=) c.1167C= (p.Val389=) c.654C= (p.Val218=) | |
11 | g.2768877C>G | CA472459446 | KCNQ1 | c.1191C>G (p.Val397=) c.1008C>G (p.Val336=) c.1548C>G (p.Val516=) c.1167C>G (p.Val389=) c.654C>G (p.Val218=) | |
11 | g.2768877C>T | CA030830 | KCNQ1 | c.1191C>T (p.Val397=) c.1008C>T (p.Val336=) c.1548C>T (p.Val516=) c.1167C>T (p.Val389=) c.654C>T (p.Val218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768878A>C | CA379138960 | KCNQ1 | c.1192A>C (p.Ile398Leu) c.1009A>C (p.Ile337Leu) c.1549A>C (p.Ile517Leu) c.1168A>C (p.Ile390Leu) c.655A>C (p.Ile219Leu) | |
11 | g.2768878A>G | CA379138959 | KCNQ1 | c.1192A>G (p.Ile398Val) c.1009A>G (p.Ile337Val) c.1549A>G (p.Ile517Val) c.1168A>G (p.Ile390Val) c.655A>G (p.Ile219Val) | |
11 | g.2768878A>T | CA379138958 | KCNQ1 | c.1192A>T (p.Ile398Phe) c.1009A>T (p.Ile337Phe) c.1549A>T (p.Ile517Phe) c.1168A>T (p.Ile390Phe) c.655A>T (p.Ile219Phe) | |
11 | g.2768879T>A | CA379138961 | KCNQ1 | c.1193T>A (p.Ile398Asn) c.1010T>A (p.Ile337Asn) c.1550T>A (p.Ile517Asn) c.1169T>A (p.Ile390Asn) c.656T>A (p.Ile219Asn) | |
11 | g.2768879T>C | CA005886 | KCNQ1 | c.1193T>C (p.Ile398Thr) c.1010T>C (p.Ile337Thr) c.1550T>C (p.Ile517Thr) c.1169T>C (p.Ile390Thr) c.656T>C (p.Ile219Thr) | ClinVar dbSNP |
11 | g.2768879T>G | CA379138962 | KCNQ1 | c.1193T>G (p.Ile398Ser) c.1010T>G (p.Ile337Ser) c.1550T>G (p.Ile517Ser) c.1169T>G (p.Ile390Ser) c.656T>G (p.Ile219Ser) | |
11 | g.2768879T= | CA1948310017 | KCNQ1 | c.1193T= (p.Ile398=) c.1010T= (p.Ile337=) c.1550T= (p.Ile517=) c.1169T= (p.Ile390=) c.656T= (p.Ile219=) | |
11 | g.2768880T>A | CA472459450 | KCNQ1 | c.1194T>A (p.Ile398=) c.1011T>A (p.Ile337=) c.1551T>A (p.Ile517=) c.1170T>A (p.Ile390=) c.657T>A (p.Ile219=) | |
11 | g.2768880T>C | CA472459451 | KCNQ1 | c.1194T>C (p.Ile398=) c.1011T>C (p.Ile337=) c.1551T>C (p.Ile517=) c.1170T>C (p.Ile390=) c.657T>C (p.Ile219=) | |
11 | g.2768880T>G | CA379138963 | KCNQ1 | c.1194T>G (p.Ile398Met) c.1011T>G (p.Ile337Met) c.1551T>G (p.Ile517Met) c.1170T>G (p.Ile390Met) c.657T>G (p.Ile219Met) | |
11 | g.2768881C>A | CA472459452 | KCNQ1 | c.1195C>A (p.Arg399=) c.1012C>A (p.Arg338=) c.1552C>A (p.Arg518=) c.1171C>A (p.Arg391=) c.658C>A (p.Arg220=) | |
11 | g.2768881C= | CA1948310021 | KCNQ1 | c.1195C= (p.Arg399=) c.1012C= (p.Arg338=) c.1552C= (p.Arg518=) c.1171C= (p.Arg391=) c.658C= (p.Arg220=) | |
11 | g.2768881C>G | CA005889 | KCNQ1 | c.1195C>G (p.Arg399Gly) c.1012C>G (p.Arg338Gly) c.1552C>G (p.Arg518Gly) c.1171C>G (p.Arg391Gly) c.658C>G (p.Arg220Gly) | ClinVar dbSNP |
11 | g.2768881C>T | CA005894 | KCNQ1 | c.1195C>T (p.Arg399Ter) c.1012C>T (p.Arg338Ter) c.1552C>T (p.Arg518Ter) c.1171C>T (p.Arg391Ter) c.658C>T (p.Arg220Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768882G>A | CA005903 | KCNQ1 | c.1196G>A (p.Arg399Gln) c.1013G>A (p.Arg338Gln) c.1553G>A (p.Arg518Gln) c.1172G>A (p.Arg391Gln) c.659G>A (p.Arg220Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768882G>C | CA005909 | KCNQ1 | c.1196G>C (p.Arg399Pro) c.1013G>C (p.Arg338Pro) c.1553G>C (p.Arg518Pro) c.1172G>C (p.Arg391Pro) c.659G>C (p.Arg220Pro) | ClinVar dbSNP |
11 | g.2768882G= | CA1948310030 | KCNQ1 | c.1196G= (p.Arg399=) c.1013G= (p.Arg338=) c.1553G= (p.Arg518=) c.1172G= (p.Arg391=) c.659G= (p.Arg220=) | |
11 | g.2768882G>T | CA379138964 | KCNQ1 | c.1196G>T (p.Arg399Leu) c.1013G>T (p.Arg338Leu) c.1553G>T (p.Arg518Leu) c.1172G>T (p.Arg391Leu) c.659G>T (p.Arg220Leu) | |
11 | g.2768883A>C | CA472459454 | KCNQ1 | c.1197A>C (p.Arg399=) c.1014A>C (p.Arg338=) c.1554A>C (p.Arg518=) c.1173A>C (p.Arg391=) c.660A>C (p.Arg220=) | |
11 | g.2768883A>G | CA472459455 | KCNQ1 | c.1197A>G (p.Arg399=) c.1014A>G (p.Arg338=) c.1554A>G (p.Arg518=) c.1173A>G (p.Arg391=) c.660A>G (p.Arg220=) | |
11 | g.2768883A>T | CA472459456 | KCNQ1 | c.1197A>T (p.Arg399=) c.1014A>T (p.Arg338=) c.1554A>T (p.Arg518=) c.1173A>T (p.Arg391=) c.660A>T (p.Arg220=) | |
11 | g.2768884C>A | CA379138965 | KCNQ1 | c.1198C>A (p.Arg400Ser) c.1015C>A (p.Arg339Ser) c.1555C>A (p.Arg519Ser) c.1174C>A (p.Arg392Ser) c.661C>A (p.Arg221Ser) | |
11 | g.2768884C= | CA1948310035 | KCNQ1 | c.1198C= (p.Arg400=) c.1015C= (p.Arg339=) c.1555C= (p.Arg519=) c.1174C= (p.Arg392=) c.661C= (p.Arg221=) | |
11 | g.2768884C>G | CA379138966 | KCNQ1 | c.1198C>G (p.Arg400Gly) c.1015C>G (p.Arg339Gly) c.1555C>G (p.Arg519Gly) c.1174C>G (p.Arg392Gly) c.661C>G (p.Arg221Gly) | |
11 | g.2768884C>T | CA005917 | KCNQ1 | c.1198C>T (p.Arg400Cys) c.1015C>T (p.Arg339Cys) c.1555C>T (p.Arg519Cys) c.1174C>T (p.Arg392Cys) c.661C>T (p.Arg221Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2768885G>A | CA005923 | KCNQ1 | c.1199G>A (p.Arg400His) c.1016G>A (p.Arg339His) c.1556G>A (p.Arg519His) c.1175G>A (p.Arg392His) c.662G>A (p.Arg221His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768885G>C | CA379138968 | KCNQ1 | c.1199G>C (p.Arg400Pro) c.1016G>C (p.Arg339Pro) c.1556G>C (p.Arg519Pro) c.1175G>C (p.Arg392Pro) c.662G>C (p.Arg221Pro) | |
11 | g.2768885G= | CA1948310041 | KCNQ1 | c.1199G= (p.Arg400=) c.1016G= (p.Arg339=) c.1556G= (p.Arg519=) c.1175G= (p.Arg392=) c.662G= (p.Arg221=) | |
11 | g.2768885G>T | CA379138967 | KCNQ1 | c.1199G>T (p.Arg400Leu) c.1016G>T (p.Arg339Leu) c.1556G>T (p.Arg519Leu) c.1175G>T (p.Arg392Leu) c.662G>T (p.Arg221Leu) | |
11 | g.2768888_2768891del | CA2697548364 | KCNQ1 | c.1202_1205del (p.Met401SerfsTer?) c.1019_1022del (p.Met340SerfsTer?) c.1559_1562del (p.Met520SerfsTer?) c.1178_1181del (p.Met393SerfsTer?) c.665_668del (p.Met222SerfsTer?) | ClinVar |
11 | g.2768886C>A | CA472459457 | KCNQ1 | c.1200C>A (p.Arg400=) c.1017C>A (p.Arg339=) c.1557C>A (p.Arg519=) c.1176C>A (p.Arg392=) c.663C>A (p.Arg221=) | |
11 | g.2768886C>G | CA472459459 | KCNQ1 | c.1200C>G (p.Arg400=) c.1017C>G (p.Arg339=) c.1557C>G (p.Arg519=) c.1176C>G (p.Arg392=) c.663C>G (p.Arg221=) | |
11 | g.2768886C>T | CA472459460 | KCNQ1 | c.1200C>T (p.Arg400=) c.1017C>T (p.Arg339=) c.1557C>T (p.Arg519=) c.1176C>T (p.Arg392=) c.663C>T (p.Arg221=) | ClinVar gnomAD v4 |
11 | g.2768887A>C | CA379138969 | KCNQ1 | c.1201A>C (p.Met401Leu) c.1018A>C (p.Met340Leu) c.1558A>C (p.Met520Leu) c.1177A>C (p.Met393Leu) c.664A>C (p.Met222Leu) | |
11 | g.2768887A>G | CA379138971 | KCNQ1 | c.1201A>G (p.Met401Val) c.1018A>G (p.Met340Val) c.1558A>G (p.Met520Val) c.1177A>G (p.Met393Val) c.664A>G (p.Met222Val) | |
11 | g.2768887A>T | CA379138970 | KCNQ1 | c.1201A>T (p.Met401Leu) c.1018A>T (p.Met340Leu) c.1558A>T (p.Met520Leu) c.1177A>T (p.Met393Leu) c.664A>T (p.Met222Leu) | |
11 | g.2768888T>A | CA379138972 | KCNQ1 | c.1202T>A (p.Met401Lys) c.1019T>A (p.Met340Lys) c.1559T>A (p.Met520Lys) c.1178T>A (p.Met393Lys) c.665T>A (p.Met222Lys) | ClinVar |
11 | g.2768888T>C | CA379138973 | KCNQ1 | c.1202T>C (p.Met401Thr) c.1019T>C (p.Met340Thr) c.1559T>C (p.Met520Thr) c.1178T>C (p.Met393Thr) c.665T>C (p.Met222Thr) | ClinVar dbSNP |
11 | g.2768888T>G | CA005930 | KCNQ1 | c.1202T>G (p.Met401Arg) c.1019T>G (p.Met340Arg) c.1559T>G (p.Met520Arg) c.1178T>G (p.Met393Arg) c.665T>G (p.Met222Arg) | ClinVar dbSNP |
11 | g.2768888T= | CA1948310045 | KCNQ1 | c.1202T= (p.Met401=) c.1019T= (p.Met340=) c.1559T= (p.Met520=) c.1178T= (p.Met393=) c.665T= (p.Met222=) | |
11 | g.2768889G>A | CA379138974 | KCNQ1 | c.1203G>A (p.Met401Ile) c.1020G>A (p.Met340Ile) c.1560G>A (p.Met520Ile) c.1179G>A (p.Met393Ile) c.666G>A (p.Met222Ile) | ClinVar dbSNP |
11 | g.2768889G>C | CA379138975 | KCNQ1 | c.1203G>C (p.Met401Ile) c.1020G>C (p.Met340Ile) c.1560G>C (p.Met520Ile) c.1179G>C (p.Met393Ile) c.666G>C (p.Met222Ile) | |
11 | g.2768889G= | CA1948310049 | KCNQ1 | c.1203G= (p.Met401=) c.1020G= (p.Met340=) c.1560G= (p.Met520=) c.1179G= (p.Met393=) c.666G= (p.Met222=) | |
11 | g.2768889G>T | CA379138976 | KCNQ1 | c.1203G>T (p.Met401Ile) c.1020G>T (p.Met340Ile) c.1560G>T (p.Met520Ile) c.1179G>T (p.Met393Ile) c.666G>T (p.Met222Ile) | |
11 | g.2768890C>A | CA379138977 | KCNQ1 | c.1204C>A (p.Gln402Lys) c.1021C>A (p.Gln341Lys) c.1561C>A (p.Gln521Lys) c.1180C>A (p.Gln394Lys) c.667C>A (p.Gln223Lys) | |
11 | g.2768890C>G | CA379138978 | KCNQ1 | c.1204C>G (p.Gln402Glu) c.1021C>G (p.Gln341Glu) c.1561C>G (p.Gln521Glu) c.1180C>G (p.Gln394Glu) c.667C>G (p.Gln223Glu) | |
11 | g.2768890C>T | CA379138979 | KCNQ1 | c.1204C>T (p.Gln402Ter) c.1021C>T (p.Gln341Ter) c.1561C>T (p.Gln521Ter) c.1180C>T (p.Gln394Ter) c.667C>T (p.Gln223Ter) | |
11 | g.2768891A= | CA1948310053 | KCNQ1 | c.1205A= (p.Gln402=) c.1022A= (p.Gln341=) c.1562A= (p.Gln521=) c.1181A= (p.Gln394=) c.668A= (p.Gln223=) | |
11 | g.2768891A>C | CA379138980 | KCNQ1 | c.1205A>C (p.Gln402Pro) c.1022A>C (p.Gln341Pro) c.1562A>C (p.Gln521Pro) c.1181A>C (p.Gln394Pro) c.668A>C (p.Gln223Pro) | |
11 | g.2768891A>G | CA379138981 | KCNQ1 | c.1205A>G (p.Gln402Arg) c.1022A>G (p.Gln341Arg) c.1562A>G (p.Gln521Arg) c.1181A>G (p.Gln394Arg) c.668A>G (p.Gln223Arg) | dbSNP |
11 | g.2768891A>T | CA379138982 | KCNQ1 | c.1205A>T (p.Gln402Leu) c.1022A>T (p.Gln341Leu) c.1562A>T (p.Gln521Leu) c.1181A>T (p.Gln394Leu) c.668A>T (p.Gln223Leu) | |
11 | g.2768892G>A | CA472459466 | KCNQ1 | c.1206G>A (p.Gln402=) c.1023G>A (p.Gln341=) c.1563G>A (p.Gln521=) c.1182G>A (p.Gln394=) c.669G>A (p.Gln223=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2768892G>C | CA379138984 | KCNQ1 | c.1206G>C (p.Gln402His) c.1023G>C (p.Gln341His) c.1563G>C (p.Gln521His) c.1182G>C (p.Gln394His) c.669G>C (p.Gln223His) | |
11 | g.2768892G= | CA1948310055 | KCNQ1 | c.1206G= (p.Gln402=) c.1023G= (p.Gln341=) c.1563G= (p.Gln521=) c.1182G= (p.Gln394=) c.669G= (p.Gln223=) | |
11 | g.2768892G>T | CA379138983 | KCNQ1 | c.1206G>T (p.Gln402His) c.1023G>T (p.Gln341His) c.1563G>T (p.Gln521His) c.1182G>T (p.Gln394His) c.669G>T (p.Gln223His) | |
11 | g.2768893T>A | CA379138985 | KCNQ1 | c.1207T>A (p.Tyr403Asn) c.1024T>A (p.Tyr342Asn) c.1564T>A (p.Tyr522Asn) c.1183T>A (p.Tyr395Asn) c.670T>A (p.Tyr224Asn) | |
11 | g.2768893T>C | CA379138986 | KCNQ1 | c.1207T>C (p.Tyr403His) c.1024T>C (p.Tyr342His) c.1564T>C (p.Tyr522His) c.1183T>C (p.Tyr395His) c.670T>C (p.Tyr224His) | |
11 | g.2768893T>G | CA379138987 | KCNQ1 | c.1207T>G (p.Tyr403Asp) c.1024T>G (p.Tyr342Asp) c.1564T>G (p.Tyr522Asp) c.1183T>G (p.Tyr395Asp) c.670T>G (p.Tyr224Asp) | |
11 | g.2768894A= | CA1948310061 | KCNQ1 | c.1208A= (p.Tyr403=) c.1025A= (p.Tyr342=) c.1565A= (p.Tyr522=) c.1184A= (p.Tyr395=) c.671A= (p.Tyr224=) | |
11 | g.2768894A>C | CA005936 | KCNQ1 | c.1208A>C (p.Tyr403Ser) c.1025A>C (p.Tyr342Ser) c.1565A>C (p.Tyr522Ser) c.1184A>C (p.Tyr395Ser) c.671A>C (p.Tyr224Ser) | ClinVar dbSNP |
11 | g.2768894A>G | CA379138988 | KCNQ1 | c.1208A>G (p.Tyr403Cys) c.1025A>G (p.Tyr342Cys) c.1565A>G (p.Tyr522Cys) c.1184A>G (p.Tyr395Cys) c.671A>G (p.Tyr224Cys) | |
11 | g.2768894A>T | CA379138989 | KCNQ1 | c.1208A>T (p.Tyr403Phe) c.1025A>T (p.Tyr342Phe) c.1565A>T (p.Tyr522Phe) c.1184A>T (p.Tyr395Phe) c.671A>T (p.Tyr224Phe) | |
11 | g.2768895C>A | CA030928 | KCNQ1 | c.1209C>A (p.Tyr403Ter) c.1026C>A (p.Tyr342Ter) c.1566C>A (p.Tyr522Ter) c.1185C>A (p.Tyr395Ter) c.672C>A (p.Tyr224Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768895C= | CA1948310063 | KCNQ1 | c.1209C= (p.Tyr403=) c.1026C= (p.Tyr342=) c.1566C= (p.Tyr522=) c.1185C= (p.Tyr395=) c.672C= (p.Tyr224=) | |
11 | g.2768895C>G | CA379138990 | KCNQ1 | c.1209C>G (p.Tyr403Ter) c.1026C>G (p.Tyr342Ter) c.1566C>G (p.Tyr522Ter) c.1185C>G (p.Tyr395Ter) c.672C>G (p.Tyr224Ter) | |
11 | g.2768895C>T | CA472459468 | KCNQ1 | c.1209C>T (p.Tyr403=) c.1026C>T (p.Tyr342=) c.1566C>T (p.Tyr522=) c.1185C>T (p.Tyr395=) c.672C>T (p.Tyr224=) | |
11 | g.2768896T>A | CA379138991 | KCNQ1 | c.1210T>A (p.Phe404Ile) c.1027T>A (p.Phe343Ile) c.1567T>A (p.Phe523Ile) c.1186T>A (p.Phe396Ile) c.673T>A (p.Phe225Ile) | |
11 | g.2768896T>C | CA379138992 | KCNQ1 | c.1210T>C (p.Phe404Leu) c.1027T>C (p.Phe343Leu) c.1567T>C (p.Phe523Leu) c.1186T>C (p.Phe396Leu) c.673T>C (p.Phe225Leu) | |
11 | g.2768896T>G | CA379138993 | KCNQ1 | c.1210T>G (p.Phe404Val) c.1027T>G (p.Phe343Val) c.1567T>G (p.Phe523Val) c.1186T>G (p.Phe396Val) c.673T>G (p.Phe225Val) | |
11 | g.2768897T>A | CA379138996 | KCNQ1 | c.1211T>A (p.Phe404Tyr) c.1028T>A (p.Phe343Tyr) c.1568T>A (p.Phe523Tyr) c.1187T>A (p.Phe396Tyr) c.674T>A (p.Phe225Tyr) | |
11 | g.2768897T>C | CA379138995 | KCNQ1 | c.1211T>C (p.Phe404Ser) c.1028T>C (p.Phe343Ser) c.1568T>C (p.Phe523Ser) c.1187T>C (p.Phe396Ser) c.674T>C (p.Phe225Ser) | |
11 | g.2768897T>G | CA379138994 | KCNQ1 | c.1211T>G (p.Phe404Cys) c.1028T>G (p.Phe343Cys) c.1568T>G (p.Phe523Cys) c.1187T>G (p.Phe396Cys) c.674T>G (p.Phe225Cys) | |
11 | g.2768898T>A | CA379138997 | KCNQ1 | c.1212T>A (p.Phe404Leu) c.1029T>A (p.Phe343Leu) c.1569T>A (p.Phe523Leu) c.1188T>A (p.Phe396Leu) c.675T>A (p.Phe225Leu) | |
11 | g.2768898T>C | CA472459469 | KCNQ1 | c.1212T>C (p.Phe404=) c.1029T>C (p.Phe343=) c.1569T>C (p.Phe523=) c.1188T>C (p.Phe396=) c.675T>C (p.Phe225=) | |
11 | g.2768898T>G | CA379138998 | KCNQ1 | c.1212T>G (p.Phe404Leu) c.1029T>G (p.Phe343Leu) c.1569T>G (p.Phe523Leu) c.1188T>G (p.Phe396Leu) c.675T>G (p.Phe225Leu) | |
11 | g.2768899G>A | CA379138999 | KCNQ1 | c.1213G>A (p.Val405Met) c.1030G>A (p.Val344Met) c.1570G>A (p.Val524Met) c.1189G>A (p.Val397Met) c.676G>A (p.Val226Met) | gnomAD v4 |
11 | g.2768899G>C | CA379139000 | KCNQ1 | c.1213G>C (p.Val405Leu) c.1030G>C (p.Val344Leu) c.1570G>C (p.Val524Leu) c.1189G>C (p.Val397Leu) c.676G>C (p.Val226Leu) | |
11 | g.2768899G= | CA1948310065 | KCNQ1 | c.1213G= (p.Val405=) c.1030G= (p.Val344=) c.1570G= (p.Val524=) c.1189G= (p.Val397=) c.676G= (p.Val226=) | |
11 | g.2768899G>T | CA379139001 | KCNQ1 | c.1213G>T (p.Val405Leu) c.1030G>T (p.Val344Leu) c.1570G>T (p.Val524Leu) c.1189G>T (p.Val397Leu) c.676G>T (p.Val226Leu) | dbSNP |
11 | g.2768900T>A | CA379139003 | KCNQ1 | c.1214T>A (p.Val405Glu) c.1031T>A (p.Val344Glu) c.1571T>A (p.Val524Glu) c.1190T>A (p.Val397Glu) c.677T>A (p.Val226Glu) | |
11 | g.2768900T>C | CA379139002 | KCNQ1 | c.1214T>C (p.Val405Ala) c.1031T>C (p.Val344Ala) c.1571T>C (p.Val524Ala) c.1190T>C (p.Val397Ala) c.677T>C (p.Val226Ala) | |
11 | g.2768900T>G | CA005943 | KCNQ1 | c.1214T>G (p.Val405Gly) c.1031T>G (p.Val344Gly) c.1571T>G (p.Val524Gly) c.1190T>G (p.Val397Gly) c.677T>G (p.Val226Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.2768900T= | CA1948310068 | KCNQ1 | c.1214T= (p.Val405=) c.1031T= (p.Val344=) c.1571T= (p.Val524=) c.1190T= (p.Val397=) c.677T= (p.Val226=) | |
11 | g.2768901G>A | CA472459472 | KCNQ1 | c.1215G>A (p.Val405=) c.1032G>A (p.Val344=) c.1572G>A (p.Val524=) c.1191G>A (p.Val397=) c.678G>A (p.Val226=) | |
11 | g.2768901G>C | CA472459474 | KCNQ1 | c.1215G>C (p.Val405=) c.1032G>C (p.Val344=) c.1572G>C (p.Val524=) c.1191G>C (p.Val397=) c.678G>C (p.Val226=) | |
11 | g.2768901G>T | CA472459473 | KCNQ1 | c.1215G>T (p.Val405=) c.1032G>T (p.Val344=) c.1572G>T (p.Val524=) c.1191G>T (p.Val397=) c.678G>T (p.Val226=) | |
11 | g.2768902G>A | CA005949 | KCNQ1 | c.1216G>A (p.Ala406Thr) c.1033G>A (p.Ala345Thr) c.1573G>A (p.Ala525Thr) c.1192G>A (p.Ala398Thr) c.679G>A (p.Ala227Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768902G>C | CA379139004 | KCNQ1 | c.1216G>C (p.Ala406Pro) c.1033G>C (p.Ala345Pro) c.1573G>C (p.Ala525Pro) c.1192G>C (p.Ala398Pro) c.679G>C (p.Ala227Pro) | |
11 | g.2768902G= | CA1948310072 | KCNQ1 | c.1216G= (p.Ala406=) c.1033G= (p.Ala345=) c.1573G= (p.Ala525=) c.1192G= (p.Ala398=) c.679G= (p.Ala227=) | |
11 | g.2768902G>T | CA379139005 | KCNQ1 | c.1216G>T (p.Ala406Ser) c.1033G>T (p.Ala345Ser) c.1573G>T (p.Ala525Ser) c.1192G>T (p.Ala398Ser) c.679G>T (p.Ala227Ser) | |
11 | g.2768903C>A | CA379139006 | KCNQ1 | c.1217C>A (p.Ala406Asp) c.1034C>A (p.Ala345Asp) c.1574C>A (p.Ala525Asp) c.1193C>A (p.Ala398Asp) c.680C>A (p.Ala227Asp) | |
11 | g.2768903C= | CA1948310076 | KCNQ1 | c.1217C= (p.Ala406=) c.1034C= (p.Ala345=) c.1574C= (p.Ala525=) c.1193C= (p.Ala398=) c.680C= (p.Ala227=) | |
11 | g.2768903C>G | CA379139007 | KCNQ1 | c.1217C>G (p.Ala406Gly) c.1034C>G (p.Ala345Gly) c.1574C>G (p.Ala525Gly) c.1193C>G (p.Ala398Gly) c.680C>G (p.Ala227Gly) | |
11 | g.2768903C>T | CA005956 | KCNQ1 | c.1217C>T (p.Ala406Val) c.1034C>T (p.Ala345Val) c.1574C>T (p.Ala525Val) c.1193C>T (p.Ala398Val) c.680C>T (p.Ala227Val) | ClinVar dbSNP |
11 | g.2768904C>A | CA472459475 | KCNQ1 | c.1218C>A (p.Ala406=) c.1035C>A (p.Ala345=) c.1575C>A (p.Ala525=) c.1194C>A (p.Ala398=) c.681C>A (p.Ala227=) | |
11 | g.2768904C>G | CA472459476 | KCNQ1 | c.1218C>G (p.Ala406=) c.1035C>G (p.Ala345=) c.1575C>G (p.Ala525=) c.1194C>G (p.Ala398=) c.681C>G (p.Ala227=) | |
11 | g.2768904C>T | CA472459477 | KCNQ1 | c.1218C>T (p.Ala406=) c.1035C>T (p.Ala345=) c.1575C>T (p.Ala525=) c.1194C>T (p.Ala398=) c.681C>T (p.Ala227=) | |
11 | g.2768905A= | CA1948310081 | KCNQ1 | c.1219A= (p.Lys407=) c.1036A= (p.Lys346=) c.1576A= (p.Lys526=) c.1195A= (p.Lys399=) c.682A= (p.Lys228=) | |
11 | g.2768905A>C | CA030978 | KCNQ1 | c.1219A>C (p.Lys407Gln) c.1036A>C (p.Lys346Gln) c.1576A>C (p.Lys526Gln) c.1195A>C (p.Lys399Gln) c.682A>C (p.Lys228Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2768905A>G | CA005962 | KCNQ1 | c.1219A>G (p.Lys407Glu) c.1036A>G (p.Lys346Glu) c.1576A>G (p.Lys526Glu) c.1195A>G (p.Lys399Glu) c.682A>G (p.Lys228Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768905A>T | CA379139008 | KCNQ1 | c.1219A>T (p.Lys407Ter) c.1036A>T (p.Lys346Ter) c.1576A>T (p.Lys526Ter) c.1195A>T (p.Lys399Ter) c.682A>T (p.Lys228Ter) | |
11 | g.2768906del | CA2574728428 | KCNQ1 | c.1220del (p.Lys407ArgfsTer?) c.1037del (p.Lys346ArgfsTer?) c.1577del (p.Lys526ArgfsTer?) c.1196del (p.Lys399ArgfsTer?) c.683del (p.Lys228ArgfsTer?) | |
11 | g.2768906A>C | CA379139009 | KCNQ1 | c.1220A>C (p.Lys407Thr) c.1037A>C (p.Lys346Thr) c.1577A>C (p.Lys526Thr) c.1196A>C (p.Lys399Thr) c.683A>C (p.Lys228Thr) | |
11 | g.2768906A>G | CA379139010 | KCNQ1 | c.1220A>G (p.Lys407Arg) c.1037A>G (p.Lys346Arg) c.1577A>G (p.Lys526Arg) c.1196A>G (p.Lys399Arg) c.683A>G (p.Lys228Arg) | |
11 | g.2768906A>T | CA379139011 | KCNQ1 | c.1220A>T (p.Lys407Met) c.1037A>T (p.Lys346Met) c.1577A>T (p.Lys526Met) c.1196A>T (p.Lys399Met) c.683A>T (p.Lys228Met) | |
11 | g.2768907G>A | CA472459481 | KCNQ1 | c.1221G>A (p.Lys407=) c.1038G>A (p.Lys346=) c.1578G>A (p.Lys526=) c.1197G>A (p.Lys399=) c.684G>A (p.Lys228=) | ClinVar dbSNP gnomAD v4 |
11 | g.2768907G>C | CA379139012 | KCNQ1 | c.1221G>C (p.Lys407Asn) c.1038G>C (p.Lys346Asn) c.1578G>C (p.Lys526Asn) c.1197G>C (p.Lys399Asn) c.684G>C (p.Lys228Asn) | |
11 | g.2768907G= | CA1948310087 | KCNQ1 | c.1221G= (p.Lys407=) c.1038G= (p.Lys346=) c.1578G= (p.Lys526=) c.1197G= (p.Lys399=) c.684G= (p.Lys228=) | |
11 | g.2768907G>T | CA379139013 | KCNQ1 | c.1221G>T (p.Lys407Asn) c.1038G>T (p.Lys346Asn) c.1578G>T (p.Lys526Asn) c.1197G>T (p.Lys399Asn) c.684G>T (p.Lys228Asn) | ClinVar dbSNP |
11 | g.2768908A>C | CA379139014 | KCNQ1 | c.1222A>C (p.Lys408Gln) c.1039A>C (p.Lys347Gln) c.1579A>C (p.Lys527Gln) c.1198A>C (p.Lys400Gln) c.685A>C (p.Lys229Gln) | |
11 | g.2768908A>G | CA379139015 | KCNQ1 | c.1222A>G (p.Lys408Glu) c.1039A>G (p.Lys347Glu) c.1579A>G (p.Lys527Glu) c.1198A>G (p.Lys400Glu) c.685A>G (p.Lys229Glu) | ClinVar |
11 | g.2768908A>T | CA379139016 | KCNQ1 | c.1222A>T (p.Lys408Ter) c.1039A>T (p.Lys347Ter) c.1579A>T (p.Lys527Ter) c.1198A>T (p.Lys400Ter) c.685A>T (p.Lys229Ter) | |
11 | g.2768909A>C | CA379139017 | KCNQ1 | c.1223A>C (p.Lys408Thr) c.1040A>C (p.Lys347Thr) c.1580A>C (p.Lys527Thr) c.1199A>C (p.Lys400Thr) c.686A>C (p.Lys229Thr) | |
11 | g.2768909A>G | CA379139018 | KCNQ1 | c.1223A>G (p.Lys408Arg) c.1040A>G (p.Lys347Arg) c.1580A>G (p.Lys527Arg) c.1199A>G (p.Lys400Arg) c.686A>G (p.Lys229Arg) | |
11 | g.2768909A>T | CA379139019 | KCNQ1 | c.1223A>T (p.Lys408Met) c.1040A>T (p.Lys347Met) c.1580A>T (p.Lys527Met) c.1199A>T (p.Lys400Met) c.686A>T (p.Lys229Met) | |
11 | g.2768910G>A | CA472459483 | KCNQ1 | c.1224G>A (p.Lys408=) c.1041G>A (p.Lys347=) c.1581G>A (p.Lys527=) c.1200G>A (p.Lys400=) c.687G>A (p.Lys229=) | |
11 | g.2768910G>C | CA379139020 | KCNQ1 | c.1224G>C (p.Lys408Asn) c.1041G>C (p.Lys347Asn) c.1581G>C (p.Lys527Asn) c.1200G>C (p.Lys400Asn) c.687G>C (p.Lys229Asn) | |
11 | g.2768910G>T | CA379139021 | KCNQ1 | c.1224G>T (p.Lys408Asn) c.1041G>T (p.Lys347Asn) c.1581G>T (p.Lys527Asn) c.1200G>T (p.Lys400Asn) c.687G>T (p.Lys229Asn) | |
11 | g.2768911A>C | CA379139022 | KCNQ1 | c.1225A>C (p.Lys409Gln) c.1042A>C (p.Lys348Gln) c.1582A>C (p.Lys528Gln) c.1201A>C (p.Lys401Gln) c.688A>C (p.Lys230Gln) | gnomAD v4 |
11 | g.2768911A>G | CA379139024 | KCNQ1 | c.1225A>G (p.Lys409Glu) c.1042A>G (p.Lys348Glu) c.1582A>G (p.Lys528Glu) c.1201A>G (p.Lys401Glu) c.688A>G (p.Lys230Glu) | |
11 | g.2768911A>T | CA379139023 | KCNQ1 | c.1225A>T (p.Lys409Ter) c.1042A>T (p.Lys348Ter) c.1582A>T (p.Lys528Ter) c.1201A>T (p.Lys401Ter) c.688A>T (p.Lys230Ter) | |
11 | g.2768913del | CA2612008636 | KCNQ1 | c.1227del (p.Lys409AsnfsTer?) c.1044del (p.Lys348AsnfsTer?) c.1584del (p.Lys528AsnfsTer?) c.1203del (p.Lys401AsnfsTer?) c.690del (p.Lys230AsnfsTer?) | gnomAD v4 |
11 | g.2768912A= | CA1948310090 | KCNQ1 | c.1226A= (p.Lys409=) c.1043A= (p.Lys348=) c.1583A= (p.Lys528=) c.1202A= (p.Lys401=) c.689A= (p.Lys230=) | |
11 | g.2768912A>C | CA379139025 | KCNQ1 | c.1226A>C (p.Lys409Thr) c.1043A>C (p.Lys348Thr) c.1583A>C (p.Lys528Thr) c.1202A>C (p.Lys401Thr) c.689A>C (p.Lys230Thr) | |
11 | g.2768912A>G | CA379139027 | KCNQ1 | c.1226A>G (p.Lys409Arg) c.1043A>G (p.Lys348Arg) c.1583A>G (p.Lys528Arg) c.1202A>G (p.Lys401Arg) c.689A>G (p.Lys230Arg) | ClinVar dbSNP |
11 | g.2768912A>T | CA379139026 | KCNQ1 | c.1226A>T (p.Lys409Ile) c.1043A>T (p.Lys348Ile) c.1583A>T (p.Lys528Ile) c.1202A>T (p.Lys401Ile) c.689A>T (p.Lys230Ile) | |
11 | g.2768912_2768913insTA | CA2580082636 | KCNQ1 | c.1226_1227insTA (p.Lys409AsnfsTer?) c.1043_1044insTA (p.Lys348AsnfsTer?) c.1583_1584insTA (p.Lys528AsnfsTer?) c.1202_1203insTA (p.Lys401AsnfsTer?) c.689_690insTA (p.Lys230AsnfsTer?) | ClinVar |
11 | g.2768913A>C | CA379139028 | KCNQ1 | c.1227A>C (p.Lys409Asn) c.1044A>C (p.Lys348Asn) c.1584A>C (p.Lys528Asn) c.1203A>C (p.Lys401Asn) c.690A>C (p.Lys230Asn) | |
11 | g.2768913A>G | CA472459488 | KCNQ1 | c.1227A>G (p.Lys409=) c.1044A>G (p.Lys348=) c.1584A>G (p.Lys528=) c.1203A>G (p.Lys401=) c.690A>G (p.Lys230=) | |
11 | g.2768913A>T | CA379139029 | KCNQ1 | c.1227A>T (p.Lys409Asn) c.1044A>T (p.Lys348Asn) c.1584A>T (p.Lys528Asn) c.1203A>T (p.Lys401Asn) c.690A>T (p.Lys230Asn) | |
11 | g.2768914T>A | CA379139030 | KCNQ1 | c.1228T>A (p.Phe410Ile) c.1045T>A (p.Phe349Ile) c.1585T>A (p.Phe529Ile) c.1204T>A (p.Phe402Ile) c.691T>A (p.Phe231Ile) | |
11 | g.2768914T>C | CA379139031 | KCNQ1 | c.1228T>C (p.Phe410Leu) c.1045T>C (p.Phe349Leu) c.1585T>C (p.Phe529Leu) c.1204T>C (p.Phe402Leu) c.691T>C (p.Phe231Leu) | |
11 | g.2768914T>G | CA379139032 | KCNQ1 | c.1228T>G (p.Phe410Val) c.1045T>G (p.Phe349Val) c.1585T>G (p.Phe529Val) c.1204T>G (p.Phe402Val) c.691T>G (p.Phe231Val) | |
11 | g.2768915T>A | CA379139033 | KCNQ1 | c.1229T>A (p.Phe410Tyr) c.1046T>A (p.Phe349Tyr) c.1586T>A (p.Phe529Tyr) c.1205T>A (p.Phe402Tyr) c.692T>A (p.Phe231Tyr) | |
11 | g.2768915T>C | CA379139034 | KCNQ1 | c.1229T>C (p.Phe410Ser) c.1046T>C (p.Phe349Ser) c.1586T>C (p.Phe529Ser) c.1205T>C (p.Phe402Ser) c.692T>C (p.Phe231Ser) | |
11 | g.2768915T>G | CA379139035 | KCNQ1 | c.1229T>G (p.Phe410Cys) c.1046T>G (p.Phe349Cys) c.1586T>G (p.Phe529Cys) c.1205T>G (p.Phe402Cys) c.692T>G (p.Phe231Cys) | |
11 | g.2768916C>A | CA379139036 | KCNQ1 | c.1230C>A (p.Phe410Leu) c.1047C>A (p.Phe349Leu) c.1587C>A (p.Phe529Leu) c.1206C>A (p.Phe402Leu) c.693C>A (p.Phe231Leu) | ClinVar |
11 | g.2768916C>G | CA379139037 | KCNQ1 | c.1230C>G (p.Phe410Leu) c.1047C>G (p.Phe349Leu) c.1587C>G (p.Phe529Leu) c.1206C>G (p.Phe402Leu) c.693C>G (p.Phe231Leu) | |
11 | g.2768916C>T | CA472459490 | KCNQ1 | c.1230C>T (p.Phe410=) c.1047C>T (p.Phe349=) c.1587C>T (p.Phe529=) c.1206C>T (p.Phe402=) c.693C>T (p.Phe231=) | ClinVar COSMIC COSMIC |
11 | g.2768917C>A | CA379139038 | KCNQ1 | c.1231C>A (p.Gln411Lys) c.1048C>A (p.Gln350Lys) c.1588C>A (p.Gln530Lys) c.1207C>A (p.Gln403Lys) c.694C>A (p.Gln232Lys) | |
11 | g.2768917C= | CA1948310093 | KCNQ1 | c.1231C= (p.Gln411=) c.1048C= (p.Gln350=) c.1588C= (p.Gln530=) c.1207C= (p.Gln403=) c.694C= (p.Gln232=) | |
11 | g.2768917C>G | CA379139039 | KCNQ1 | c.1231C>G (p.Gln411Glu) c.1048C>G (p.Gln350Glu) c.1588C>G (p.Gln530Glu) c.1207C>G (p.Gln403Glu) c.694C>G (p.Gln232Glu) | gnomAD v4 |
11 | g.2768917C>T | CA005967 | KCNQ1 | c.1231C>T (p.Gln411Ter) c.1048C>T (p.Gln350Ter) c.1588C>T (p.Gln530Ter) c.1207C>T (p.Gln403Ter) c.694C>T (p.Gln232Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2768918A= | CA1948310098 | KCNQ1 | c.1232A= (p.Gln411=) c.1049A= (p.Gln350=) c.1589A= (p.Gln530=) c.1208A= (p.Gln403=) c.695A= (p.Gln232=) | |
11 | g.2768918A>C | CA16606229 | KCNQ1 | c.1232A>C (p.Gln411Pro) c.1049A>C (p.Gln350Pro) c.1589A>C (p.Gln530Pro) c.1208A>C (p.Gln403Pro) c.695A>C (p.Gln232Pro) | ClinVar dbSNP |
11 | g.2768918A>G | CA379139041 | KCNQ1 | c.1232A>G (p.Gln411Arg) c.1049A>G (p.Gln350Arg) c.1589A>G (p.Gln530Arg) c.1208A>G (p.Gln403Arg) c.695A>G (p.Gln232Arg) | |
11 | g.2768918A>T | CA379139040 | KCNQ1 | c.1232A>T (p.Gln411Leu) c.1049A>T (p.Gln350Leu) c.1589A>T (p.Gln530Leu) c.1208A>T (p.Gln403Leu) c.695A>T (p.Gln232Leu) |