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LQTS_variants.txt
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LQTS_variants.txt
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Gene Mut_id Type Effect Coding Protein X SIFT SIFT.score SIFT.median.information.content Polyphen2..HumVar. pph2_prob pph2_FPR pph2_TPR Grantham X.1 Region Domain X.2 Classification ICC.diseases References Func.Refs Observations Observation.details X.3 Paralogue.Mappings Paralogue.mapping.details Consensus X.4 Highest.frequency.in.population Avg.frequency Total.counts.in.dbSNP.populations X1000Genomes.Freq X1000Genomes.Count X.5 KCNQ1.subjects KCNQ1.func.effect ID dbSNP ESP.EurAm.freq ESP.EurAm.count ESP.AfrAm.freq ESP.AfrAm.count reliableClasses Variant.Effect Cons.Score
KCNQ1 700 substitution missense c.332A>G p.Y111C NA DAMAGING 0 2.86 probably damaging 0.997 0.0228 0.27 194 NA N-terminus NA Inherited Arrhythmia LQTS 6 2 5 5/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 700 rs199472678 NA NA NA NA 1 non-radical 2
KCNQ1 701 substitution missense c.341T>C p.L114P NA DAMAGING 0 2.85 probably damaging 0.954 0.0806 0.637 98 NA N-terminus NA Inherited Arrhythmia LQTS 3 2 NA NA 0 9 NA NA NA NA NA NA NA 701 rs199473448 NA NA NA NA 1 non-radical 2
KCNQ1 703 substitution missense c.350C>T p.P117L NA DAMAGING 0 2.86 probably damaging 0.918 0.0963 0.681 98 NA N-terminus NA Inherited Arrhythmia LQTS 4 2 1 1/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 703 rs120074191 NA NA NA NA 1 non-radical 2
KCNQ1 1772 deletion frameshift c.451_452delCT p.Leu151GlyfsX133 NA NA NA NA NA NA NA NA Transmembrane/Linker/Pore TM helical S2 NA Inherited Arrhythmia LQTS,JLNS 4 0 3 2/296; 1/2500 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA 2 haploinsufficiency 1772 NA NA NA NA 1 radical NA
KCNQ1 1614 substitution nonsense c.513C>G p.Y171X NA NA NA NA NA NA NA NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS,JLNS 8 0 4 2/294; 1/541 (Controls:0/750); 1/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA 6 haploinsufficiency 1614 NA NA NA NA 1 radical 4
KCNQ1 728 substitution missense c.520C>T p.R174C NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 180 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 5 1 4 1/20 (Controls:100); 2/541 (Controls:0/750); 1/2500 (Controls:0/1300) NA 1 KCNA1(R239S - 9) 9 NA NA NA NA NA NA NA 728 rs199472696 NA NA NA NA 1 non-radical 5
KCNQ1 731 substitution missense c.532G>C p.A178P NA DAMAGING 0 2.85 probably damaging 0.999 0.00759 0.0901 27 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 4 1 4 1/16 families; 3/294 NA 0 2 NA NA NA NA NA NA 5 dominant-negative effect 731 rs120074177 NA NA NA NA 1 non-radical 3
KCNQ1 743 substitution missense c.565G>C p.G189R NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 125 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 1 0 NA NA 0 8 NA NA NA NA NA NA 4 dominant-negative effect 743 rs104894252 NA NA NA NA 1 non-radical 5
KCNQ1 9019 substitution missense c.565G>A p.G189R NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 125 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 4 0 1 1/16 families NA 0 8 NA NA NA NA NA NA 4 dominant-negative effect 9019 rs104894252 NA NA NA NA 1 non-radical 5
KCNQ1 745 substitution missense c.569G>A p.R190Q NA DAMAGING 0 2.85 probably damaging 0.999 0.00759 0.0901 43 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 12 2 12 1/16 families; 1/20 (Controls:100); 4/294; 2/541 (Controls:0/750); 3/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 8 NA NA NA NA NA NA 4 haploinsufficiency 745 rs120074178 NA NA NA NA 1 non-radical 5
KCNQ1 747 substitution missense c.572T>C p.L191P NA DAMAGING 0 2.85 probably damaging 0.999 0.00759 0.0901 98 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 2 1 1 1/42 families (Controls:100) NA 0 8 NA NA NA NA NA NA NA 747 rs199473401 NA NA NA NA 1 non-radical 3
KCNQ1 1778 deletion frameshift c.572_576delTGCGC p.Leu191LeufsX92 NA NA NA NA NA NA NA NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS,JLNS 9 0 16 3/12 families; 3/338; 7/541 (Controls:0/750); 1/182 (Controls:98); 2/388 (Controls:0/>1300) NA 0 NA NA NA NA NA NA NA 8 haploinsufficiency 1778 NA NA NA NA 1 radical NA
KCNQ1 1779 deletion frameshift c.573_577delGCGCT p.Leu191LeufsX92 NA NA NA NA NA NA NA NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 5 1 5 1/13 families (Controls:16); 4/2500 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA NA 1779 NA NA NA NA 1 radical NA
KCNQ1 1781 deletion frameshift c.585delG p.Arg195ArgfsX42 NA NA NA NA NA NA NA NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS,JLNS 3 0 4 4/2500 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA 2 haploinsufficiency 1781 NA NA NA NA 1 radical NA
KCNQ1 757 substitution missense c.604G>A p.D202N NA DAMAGING 0 2.85 probably damaging 0.999 0.00759 0.0901 23 NA Transmembrane/Linker/Pore TM helical S3 NA Inherited Arrhythmia LQTS,JLNS 4 1 1 1/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 757 rs199472702 NA NA NA NA 1 non-radical 5
KCNQ1 756 substitution missense c.604G>C p.D202H NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 81 NA Transmembrane/Linker/Pore TM helical S3 NA Inherited Arrhythmia LQTS 3 1 1 1/188 (Controls:200) NA 0 9 NA NA NA NA NA NA NA 756 rs199472702 NA NA NA NA 1 non-radical 5
KCNQ1 758 substitution missense c.610A>T p.I204F NA DAMAGING 0.04 2.88 possibly damaging 0.708 0.148 0.78 21 NA Transmembrane/Linker/Pore TM helical S3 NA Inherited Arrhythmia LQTS 3 1 2 1/541 (Controls:0/750); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 758 rs199472703 NA NA NA NA 1 non-radical 3
KCNQ1 759 substitution missense c.612C>G p.I204M NA TOLERATED 0.29 2.88 probably damaging 0.926 0.0931 0.674 10 NA Transmembrane/Linker/Pore TM helical S3 NA Inherited Arrhythmia LQTS 3 1 1 1/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 759 rs199473455 NA NA NA NA 1 non-radical 3
KCNQ1 762 substitution missense c.626C>T p.S209F NA DAMAGING 0.02 2.85 probably damaging 0.932 0.0907 0.667 155 NA Transmembrane/Linker/Pore TM helical S3 NA Inherited Arrhythmia LQTS 2 1 NA NA 0 8 NA NA NA NA NA NA NA 762 rs199472704 NA NA NA NA 1 non-radical 5
KCNQ1 764 substitution missense c.643G>A p.V215M NA TOLERATED 0.21 2.85 possibly damaging 0.756 0.139 0.767 21 NA Transmembrane/Linker/Pore TM helical S3 NA Inherited Arrhythmia LQTS 4 1 2 1/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 7 NA 0.00365 (1) 0.00365 1 NA NA NA NA 764 rs17215479 NA NA NA NA 1 non-radical 2
KCNQ1 767 substitution missense c.674C>T p.S225L NA DAMAGING 0.02 2.85 possibly damaging 0.856 0.116 0.724 145 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 10 1 15 2/294; 3/541 (Controls:0/750); 8/2500 (Controls:0/1300); 2/388 (Controls:0/>1300) NA 0 7 NA NA NA NA NA NA 13 dominant-negative effect 767 rs199473456 NA NA NA NA 1 non-radical 5
KCNQ1 770 substitution missense c.691C>T p.R231C NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 180 NA Transmembrane/Linker/Pore TM helical S4 - voltage-sensor NA Inherited Arrhythmia LQTS,AF 6 1 2 1/188 (Controls:200); 1/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 770 rs199473457 NA NA NA NA 1 non-radical 2
KCNQ1 772 substitution missense c.704T>A p.I235N NA DAMAGING 0 2.85 probably damaging 0.922 0.0946 0.678 149 NA Transmembrane/Linker/Pore TM helical S4 - voltage-sensor NA Inherited Arrhythmia LQTS 5 1 5 1/541 (Controls:0/750); 2/2500 (Controls:0/1300); 2/388 (Controls:0/>1300) NA 2 KCNA1(V299I - 9); KCNQ2(I205V - 9) 9 NA NA NA NA NA NA NA 772 rs199472710 NA NA NA NA 1 non-radical 3
KCNQ1 773 substitution missense c.716T>C p.L239P NA DAMAGING 0 2.85 probably damaging 0.996 0.0303 0.36 98 NA Transmembrane/Linker/Pore TM helical S4 - voltage-sensor NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 773 rs199473458 NA NA NA NA 1 non-radical 3
KCNQ1 777 substitution missense c.727C>T p.R243C NA DAMAGING 0 2.85 probably damaging 0.975 0.067 0.59 180 NA Transmembrane/Linker/Pore TM helical S4 - voltage-sensor NA Inherited Arrhythmia LQTS 12 1 8 1/13 families (Controls:16); 1/294; 3/541 (Controls:0/750); 1/2500 (Controls:0/1300); 2/388 (Controls:0/>1300) NA 3 KCNQ2(R213W - 9); KCNA1(R307C - 9); KCNQ2(R213Q - 9) 9 NA NA NA NA NA NA 13 haploinsufficiency 777 rs199472713 NA NA NA NA 1 non-radical 3
KCNQ1 778 substitution missense c.728G>A p.R243H NA DAMAGING 0 2.85 probably damaging 0.998 0.0152 0.18 29 NA Transmembrane/Linker/Pore TM helical S4 - voltage-sensor NA Inherited Arrhythmia LQTS,JLNS 11 4 1 Jan-18 NA 3 KCNQ2(R213W - 9); KCNA1(R307C - 9); KCNQ2(R213Q - 9) 9 NA NA NA NA NA NA NA 778 rs120074196 NA NA NA NA 1 non-radical 3
KCNQ1 12002 substitution missense c.760G>C p.V254L NA DAMAGING 0 2.85 probably damaging 0.98 0.0617 0.572 32 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 1 0 2 2/294 NA 0 9 NA NA NA NA NA NA 59 dominant-negative effect 12002 rs120074179 NA NA NA NA 1 non-radical 5
KCNQ1 787 substitution missense c.760G>T p.V254L NA DAMAGING 0 2.85 probably damaging 0.98 0.0617 0.572 32 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 3 0 2 2/294 NA 0 9 NA NA NA NA NA NA 59 dominant-negative effect 787 rs120074179 NA NA NA NA 1 non-radical 5
KCNQ1 788 substitution missense c.760G>A p.V254M NA DAMAGING 0 2.85 probably damaging 0.996 0.0303 0.36 21 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 14 2 19 1/16 families; 1/20 (Controls:100); 2/294; 2/541 (Controls:0/750); 1/10; 10/2500 (Controls:0/1300); 2/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 788 rs120074179 NA NA NA NA 1 non-radical 5
KCNQ1 791 substitution missense c.773A>G p.H258R NA DAMAGING 0 2.85 possibly damaging 0.889 0.106 0.704 29 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 2 1 NA NA 1 KCNQ2(H228Q - 9) 9 NA NA NA NA NA NA NA 791 rs199472718 NA NA NA NA 1 non-radical 3
KCNQ1 792 substitution missense c.775C>T p.R259C NA DAMAGING 0 2.85 probably damaging 0.992 0.0451 0.488 180 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 9 0 8 1/40 (Controls:50); 1/541 (Controls:0/750); 5/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA 1 haploinsufficiency 792 rs199472719 NA NA NA NA 1 non-radical 2
KCNQ1 795 substitution missense c.783G>C p.E261D NA DAMAGING 0 2.85 probably damaging 0.993 0.0427 0.475 45 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS,JLNS 7 1 5 1/12 families; 1/541 (Controls:0/750); 3/182 (Controls:98) NA 1 KCNA1(E325D - 9) 9 NA NA NA NA NA NA NA 795 rs199472721 NA NA NA NA 1 non-radical 5
KCNQ1 803 substitution missense c.805G>A p.G269S NA DAMAGING 0 2.85 probably damaging 0.965 0.0745 0.617 56 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 13 1 21 1/55 (Controls:200); 2/294; 4/541 (Controls:0/750); 1/84 (Controls:100); 3/182 (Controls:98); 10/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA 25 haploinsufficiency 803 rs120074193 NA NA NA NA 1 non-radical 5
KCNQ1 802 substitution missense c.806G>A p.G269D NA DAMAGING 0 2.85 probably damaging 0.998 0.0152 0.18 94 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS,JLNS 8 0 24 1/20 (Controls:100); 16/294; 3/541 (Controls:0/750); 4/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA 35 dominant-negative effect 802 rs120074194 NA NA NA NA 1 non-radical 5
KCNQ1 805 substitution missense c.815G>T p.G272V NA TOLERATED 0.28 2.85 benign 0.24 0.252 0.874 109 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 805 rs199472726 NA NA NA NA 1 non-radical 3
KCNQ1 806 substitution missense c.817C>T p.L273F NA DAMAGING 0 2.85 probably damaging 0.992 0.0451 0.488 22 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 12 1 17 1/16 families; 4/294; 1/541 (Controls:0/750); 1/10; 7/2500 (Controls:0/1300); 3/388 (Controls:0/>1300) NA 1 KCNQ2(L243F - 9) 9 NA NA NA NA NA NA 6 dominant-negative effect 806 rs120074180 NA NA NA NA 1 non-radical 5
KCNQ1 809 substitution missense c.824T>C p.F275S NA DAMAGING 0 2.85 possibly damaging 0.867 0.113 0.718 155 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 2 1 1 1/42 families (Controls:100) NA 0 9 NA NA NA NA NA NA NA 809 rs199472729 NA NA NA NA 1 non-radical 5
KCNQ1 810 substitution missense c.830C>T p.S277L NA DAMAGING 0 2.85 probably damaging 0.997 0.0228 0.27 145 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 9 2 6 1/42 families (Controls:100); 1/33 (Controls:50); 1/541 (Controls:0/750); 1/77 (Controls:100); 2/2500 (Controls:0/1300) NA 1 KCNQ2(S247W - 9) 9 NA NA NA NA NA NA 3 unknown 810 rs199472730 NA NA NA NA 1 non-radical 5
KCNQ1 8517 substitution missense c.916G>A p.G306R NA DAMAGING 0 2.85 probably damaging 0.989 0.0513 0.52 125 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 6 1 19 1/16 families; 1/2500 (Controls:0/1300); 17/294 NA 2 KCNQ2(G271V - 9); KCNQ3(G310V - 9) 9 NA NA NA NA NA NA 2 dominant-negative effect 8517 rs120074181 NA NA NA NA 1 non-radical 5
KCNQ1 834 substitution missense c.916G>C p.G306R NA DAMAGING 0 2.85 probably damaging 0.989 0.0513 0.52 125 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 1 0 1 1/2500 (Controls:0/1300) NA 2 KCNQ2(G271V - 9); KCNQ3(G310V - 9) 9 NA NA NA NA NA NA 2 dominant-negative effect 834 rs120074181 NA NA NA NA 1 non-radical 5
KCNQ1 836 substitution missense c.919G>C p.V307L NA TOLERATED 0.36 2.85 possibly damaging 0.588 0.172 0.809 32 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS,SQTS 3 1 NA NA 0 9 NA NA NA NA NA NA NA 836 rs120074195 NA NA NA NA 1 non-radical 5
KCNQ1 845 substitution missense c.935C>T p.T312I NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 89 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 11 2 19 1/16 families; 13/294; 2/541 (Controls:0/750); 2/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA 14 dominant-negative effect 845 rs120074182 NA NA NA NA 1 non-radical 3
KCNQ1 852 substitution missense c.940G>A p.G314S NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 56 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 16 1 22 2/20 (Controls:100); 1/4 families (Controls:200); 2/18 (Controls:50); 1/4 families (Controls:200); 1/40 (Controls:50); 1/18; 2/541 (Controls:0/750); 1/4 families (Controls:200); 7/2500 (Controls:0/1300); 4/388 (Controls:0/>1300) NA 3 KCNQ4(G285S - 9); KCNQ4(G285C - 9); KCNV2(G459D - 9) 9 NA NA NA NA NA NA 8 dominant-negative effect 852 rs120074184 NA NA NA NA 1 non-radical 3
KCNQ1 853 substitution missense c.944A>G p.Y315C NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 194 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 11 0 14 1/55 families (Controls:200); 1/13 families (Controls:16); 7/294; 1/541 (Controls:0/750); 4/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA 10 dominant-negative effect 853 rs74462309 NA NA NA NA 1 non-radical 2
KCNQ1 855 substitution missense c.944A>C p.Y315S NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 144 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 6 2 3 2/20 (Controls:100); 1/40 (Controls:50) NA 0 9 NA NA NA NA NA NA 1 dominant-negative effect 855 rs74462309 NA NA NA NA 1 non-radical 2
KCNQ1 863 substitution missense c.958C>G p.P320A NA DAMAGING 0.02 2.85 probably damaging 1 0 5e-05 27 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 2 1 1 1/20 (Controls:100) NA 0 9 NA NA NA NA NA NA NA 863 rs199472753 NA NA NA NA 1 non-radical 3
KCNQ1 1853 deletion inframe c.1017_1019delCTT p.Phe340del NA NA NA NA NA NA NA NA Transmembrane/Linker/Pore TM helical S6 NA Inherited Arrhythmia LQTS 4 0 1 1/2500 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA 7 haploinsufficiency 1853 NA NA NA NA 1 radical NA
KCNQ1 874 substitution missense c.1022C>A p.A341E NA DAMAGING 0 2.85 probably damaging 0.999 0.00759 0.0901 107 NA Transmembrane/Linker/Pore TM helical S6 NA Inherited Arrhythmia LQTS 11 2 14 1/16 families; 1/55 families; 7/294; 4/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 1 KCNQ2(A306T - 9) 9 NA NA NA NA NA NA 9 dominant-negative effect 874 rs12720459 NA NA NA NA 1 non-radical 5
KCNQ1 881 substitution missense c.1027C>T p.P343S NA DAMAGING 0 2.86 probably damaging 0.998 0.0152 0.18 74 NA Transmembrane/Linker/Pore TM helical S6 NA Inherited Arrhythmia LQTS 4 0 1 1/541 (Controls:0/750) NA 0 9 NA NA NA NA NA NA 1 dominant-negative effect 881 rs199472762 NA NA NA NA 1 non-radical 5
KCNQ1 2125 substitution splice site c.1032G>A p.A344A NA NA NA NA NA NA NA NA Transmembrane/Linker/Pore TM helical S6 NA Inherited Arrhythmia LQTS 13 0 22 1/18 (Controls:50); 2/338; 6/541 (Controls:0/750); 3/22 families; 10/2500 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA 27 haploinsufficiency 2125 rs1800171 NA NA NA NA 1 radical NA
KCNQ1 884 substitution missense c.1034G>A p.G345E NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 98 NA Transmembrane/Linker/Pore TM helical S6 NA Inherited Arrhythmia LQTS 3 1 2 1/16 families; 1/541 (Controls:0/750) NA 0 9 NA NA NA NA NA NA NA 884 rs120074183 NA NA NA NA 1 non-radical 2
KCNQ1 887 substitution missense c.1046C>G p.S349W NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 177 NA C-terminus NA Inherited Arrhythmia LQTS 7 1 11 10/294; 1/541 (Controls:0/750) NA 0 9 NA NA NA NA NA NA 15 unknown 887 rs199472765 NA NA NA NA 1 non-radical 2
KCNQ1 893 substitution missense c.1070A>G p.Q357R NA DAMAGING 0 2.85 benign 0.309 0.233 0.86 43 NA C-terminus NA Inherited Arrhythmia LQTS 3 1 1 1/55 families (Controls:200) NA 0 8 NA NA NA NA NA NA NA 893 rs199473405 NA NA NA NA 1 non-radical 2
KCNQ1 901 substitution missense c.1097G>A p.R366Q NA DAMAGING 0 2.85 probably damaging 0.981 0.0608 0.567 43 NA C-terminus NA Inherited Arrhythmia LQTS 5 1 3 2/296; 1/2500 (Controls:0/1300) NA 0 6 NA NA NA NA NA NA NA 901 rs199473410 NA NA NA NA 1 non-radical 2
KCNQ1 2058 insertion frameshift c.1201_1202insC p.Arg401ProfsX62 NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 4 0 2 1/541 (Controls:0/750); 1/2500 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA 6 haploinsufficiency 2058 NA NA NA NA 1 radical NA
KCNQ1 1524 substitution nonsense c.1552C>T p.R518X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS,JLNS 16 1 40 1/12 families; 5/296; 5/541 (Controls:0/750); 2/84 (Controls:100); 1/182 (Controls:98); 24/2500 (Controls:0/1300); 2/388 (Controls:0/>1300) NA 0 2 NA 0.00360 (1) 0.0036 1 NA NA NA 11 haploinsufficiency 1524 rs17215500 0.00012 1 0 0 1 radical 3
KCNQ1 1547 substitution nonsense c.1588C>T p.Q530X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS,JLNS 11 1 25 1/12 families; 7/296; 1/541 (Controls:0/750); 6/182 (Controls:98); 10/2500 (Controls:0/1300) NA 0 2 NA NA NA NA NA NA 13 haploinsufficiency 1547 NA NA NA NA 1 radical 5
KCNQ1 955 substitution missense c.1615C>T p.R539W NA DAMAGING 0 2.86 probably damaging 0.998 0.0152 0.18 101 NA C-terminus NA Inherited Arrhythmia LQTS 9 2 20 2/296; 6/541 (Controls:0/750); 6/2500 (Controls:0/1300); 6/388 (Controls:0/>1300) NA 0 2 NA NA NA NA NA NA NA 955 rs199472795 NA NA NA NA 1 non-radical 5
KCNQ1 962 substitution missense c.1663C>T p.R555C NA DAMAGING 0 2.86 probably damaging 1 0 5e-05 180 NA C-terminus NA Inherited Arrhythmia LQTS 8 2 9 3/20 (Controls:100); 1/13 families (Controls:16); 1/541 (Controls:0/750); 4/2500 (Controls:0/1300) NA 0 2 NA NA NA NA NA NA NA 962 rs120074185 NA NA NA NA 1 non-radical 5
KCNQ1 1762 deletion frameshift c.1714delC NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 2 0 NA NA 0 NA NA NA NA NA NA NA 3 haploinsufficiency 1762 NA NA NA NA 1 radical NA
KCNQ1 982 substitution missense c.1760C>T p.T587M NA DAMAGING 0 2.87 possibly damaging 0.846 0.118 0.73 81 NA C-terminus NA Inherited Arrhythmia LQTS 13 2 8 1/18 (Controls:50); 1/93 families (Controls:100); 1/55 families; 1/541 (Controls:0/750); 1/182 (Controls:98); 2/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 3 NA NA NA NA NA NA NA 982 rs120074189 NA NA NA NA 1 non-radical 2
KCNQ1 983 substitution missense c.1766G>A p.G589D NA TOLERATED 0.06 2.87 probably damaging 0.969 0.0722 0.607 94 NA C-terminus Subunits assembly domain NA Inherited Arrhythmia LQTS 11 1 1 1/2500 (Controls:0/1300) NA 0 4 NA NA NA NA NA NA NA 983 rs120074190 NA NA NA NA 1 non-radical 5
KCNQ1 984 substitution missense c.1768G>A p.A590T NA DAMAGING 0 2.87 benign 0.418 0.207 0.839 58 NA C-terminus Subunits assembly domain NA Inherited Arrhythmia LQTS 5 1 3 1/23 (Controls:100); 1/541 (Controls:0/750); 1/388 (Controls:0/>1300) NA 0 3 NA NA NA NA NA NA NA 984 rs199472813 NA NA NA NA 1 non-radical 3
KCNQ1 986 substitution missense c.1772G>A p.R591H NA DAMAGING 0 2.87 probably damaging 0.993 0.0427 0.475 29 NA C-terminus Subunits assembly domain NA Inherited Arrhythmia LQTS 11 2 12 1/93 families (Controls:100); 2/541 (Controls:0/750); 1/269; 7/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 2 NA NA NA NA NA NA 6 haploinsufficiency 986 rs199472814 NA NA NA NA 1 non-radical 5
KCNQ1 988 substitution missense c.1781G>A p.R594Q NA DAMAGING 0 2.88 probably damaging 0.97 0.0716 0.605 43 NA C-terminus Subunits assembly domain NA Inherited Arrhythmia LQTS 15 2 24 3/296; 1/541 (Controls:0/750); 1/269; 1/84 (Controls:100); 15/2500 (Controls:0/1300); 3/388 (Controls:0/>1300) NA 0 2 NA NA NA NA NA NA 11 haploinsufficiency 988 rs199472815 NA NA NA NA 1 non-radical 5
KCNQ1 994 substitution missense c.1831G>T p.D611Y NA TOLERATED 0.09 2.9 benign 0.231 0.255 0.876 160 NA C-terminus Subunits assembly domain NA Inherited Arrhythmia LQTS 4 0 NA NA 0 1 NA NA NA NA NA NA 10 haploinsufficiency 994 rs147445322 NA NA NA NA 1 non-radical 2
KCNQ1 1766 deletion frameshift c.1893delC NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 2 1 NA NA 0 NA NA NA NA NA NA NA NA 1766 NA NA NA NA 1 radical NA
KCNQ1 1767 deletion frameshift c.1909delC p.His637ThrfsX19 NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 3 0 NA NA 0 NA NA NA NA NA NA NA 2 haploinsufficiency 1767 NA NA NA NA 1 radical NA
KCNH2 219 substitution missense c.82A>G p.K28E NA DAMAGING 0.01 3.09 possibly damaging 0.662 0.158 0.791 56 NA N-terminus NA Inherited Arrhythmia LQTS 3 1 NA NA 0 5 NA NA NA NA NA NA NA 219 rs199472829 NA NA NA NA 1 non-radical 2
KCNH2 220 substitution missense c.87C>A p.F29L NA DAMAGING 0 3.09 benign 0.025 0.423 0.945 22 NA N-terminus NA Inherited Arrhythmia LQTS 9 1 4 1/201; 1/541 (Controls:0/750); 1/10; 1/2500 (Controls:0/1300) NA 0 5 NA NA NA NA NA NA NA 220 rs199472830 NA NA NA NA 1 non-radical 2
KCNH2 223 substitution missense c.92T>G p.I31S NA DAMAGING 0 3.09 probably damaging 0.914 0.098 0.684 142 NA N-terminus NA Inherited Arrhythmia LQTS 3 1 1 1/541 (Controls:0/750) NA 0 5 NA NA NA NA NA NA NA 223 rs199472833 NA NA NA NA 1 non-radical 2
KCNH2 232 substitution missense c.127T>G p.Y43D NA DAMAGING 0 3.06 possibly damaging 0.491 0.191 0.826 160 NA N-terminus Per-Arnt-Sim (PAS) NA Inherited Arrhythmia LQTS 2 1 NA NA 0 4 NA NA NA NA NA NA NA 232 rs199472837 NA NA NA NA 1 non-radical 2
KCNH2 231 substitution missense c.128A>G p.Y43C NA DAMAGING 0 3.06 benign 0.021 0.438 0.948 194 NA N-terminus Per-Arnt-Sim (PAS) NA Inherited Arrhythmia LQTS 2 1 NA NA 0 4 NA NA NA NA NA NA NA 231 rs199472836 NA NA NA NA 1 non-radical 2
KCNH2 240 substitution missense c.157G>C p.G53R NA DAMAGING 0 3.06 probably damaging 0.99 0.0499 0.513 125 NA N-terminus Per-Arnt-Sim (PAS) NA Inherited Arrhythmia LQTS 4 1 1 1/541 (Controls:0/750) NA 0 5 NA NA NA NA NA NA NA 240 rs199472842 NA NA NA NA 1 non-radical 2
KCNH2 244 substitution missense c.167G>A p.R56Q NA DAMAGING 0 3.06 possibly damaging 0.725 0.145 0.776 43 NA N-terminus Per-Arnt-Sim (PAS) NA Inherited Arrhythmia LQTS 4 1 8 8/201 NA 0 4 NA NA NA NA NA NA NA 244 rs199472845 NA NA NA NA 1 non-radical 2
KCNH2 253 substitution missense c.193A>C p.T65P NA DAMAGING 0.01 2.98 probably damaging 0.994 0.0403 0.463 38 NA N-terminus Per-Arnt-Sim (PAS) NA Inherited Arrhythmia LQTS 4 1 1 1/541 (Controls:0/750) NA 0 5 NA NA NA NA NA NA NA 253 rs121912511,rs28933095 NA NA NA NA 1 non-radical 5
KCNH2 254 substitution missense c.196T>G p.C66G NA DAMAGING 0 2.98 probably damaging 1 0 5e-05 159 NA N-terminus Per-Arnt-Sim (PAS) NA Inherited Arrhythmia LQTS 4 1 1 1/201 NA 0 5 NA NA NA NA NA NA NA 254 rs199473416 NA NA NA NA 1 non-radical 5
KCNH2 258 substitution missense c.209A>G p.H70R NA TOLERATED 0.29 2.98 probably damaging 0.941 0.0869 0.656 29 NA N-terminus Per-Arnt-Sim (PAS) NA Inherited Arrhythmia LQTS 8 1 7 1/201; 1/541 (Controls:0/750); 4/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 4 NA NA NA NA NA NA NA 258 rs199473419 NA NA NA NA 1 non-radical 2
KCNH2 266 substitution missense c.232G>C p.A78P NA TOLERATED 0.07 2.98 benign 0.124 0.3 0.901 27 NA N-terminus NA Inherited Arrhythmia LQTS 6 1 3 1/201; 1/541 (Controls:0/750); 1/388 (Controls:0/>1300) NA 0 4 NA NA NA NA NA NA NA 266 rs199472848 NA NA NA NA 1 non-radical 2
KCNH2 272 substitution missense c.257T>G p.L86R NA DAMAGING 0 2.98 benign 0.033 0.4 0.937 102 NA N-terminus NA Inherited Arrhythmia LQTS 4 1 7 7/201 NA 0 4 NA NA NA NA NA NA NA 272 rs199472851 NA NA NA NA 1 non-radical 2
KCNH2 288 substitution missense c.332A>T p.D111V NA TOLERATED 0.16 2.99 benign 0.43 0.205 0.837 152 NA N-terminus PAS-associated C terminal (PAC) NA Inherited Arrhythmia LQTS 2 1 NA NA 0 4 NA NA NA NA NA NA NA 288 rs199472860 NA NA NA NA 1 non-radical 2
KCNH2 291 substitution missense c.371T>G p.M124R NA DAMAGING 0.04 2.99 benign 0.042 0.382 0.932 91 NA N-terminus PAS-associated C terminal (PAC) NA Inherited Arrhythmia LQTS 3 1 17 17/201 NA 0 4 NA NA NA NA NA NA NA 291 rs199472862 NA NA NA NA 1 non-radical 2
KCNH2 292 substitution missense c.371T>C p.M124T NA DAMAGING 0 2.99 possibly damaging 0.854 0.116 0.725 81 NA N-terminus PAS-associated C terminal (PAC) NA Inherited Arrhythmia LQTS 2 1 NA NA 0 4 NA NA NA NA NA NA NA 292 rs199472862 NA NA NA NA 1 non-radical 2
KCNH2 343 substitution missense c.1262C>T p.T421M NA DAMAGING 0 2.88 probably damaging 0.993 0.0427 0.475 81 NA Transmembrane/Linker/Pore TM helical S1 NA Inherited Arrhythmia LQTS 3 1 2 1/541 (Controls:0/750); 1/2500 (Controls:0/1300) NA 1 CNGA3(N182Y - 9) 9 NA NA NA NA NA NA NA 343 rs199472894 NA NA NA NA 1 non-radical 5
KCNH2 344 substitution missense c.1264G>A p.A422T NA DAMAGING 0 2.88 probably damaging 0.979 0.0628 0.575 58 NA Transmembrane/Linker/Pore TM helical S1 NA Inherited Arrhythmia LQTS 3 1 1 1/541 (Controls:0/750) NA 0 9 NA NA NA NA NA NA NA 344 rs199472895 NA NA NA NA 1 non-radical 5
KCNH2 352 substitution missense c.1307C>T p.T436M NA TOLERATED 0.16 2.88 benign 0.018 0.45 0.951 81 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 3 1 6 6/201 NA 0 5 NA NA NA NA NA NA NA 352 rs199472901 NA NA NA NA 1 non-radical 2
KCNH2 356 substitution missense c.1366G>T p.D456Y NA DAMAGING 0 2.88 probably damaging 0.927 0.0927 0.673 160 NA Transmembrane/Linker/Pore TM helical S2 NA Inherited Arrhythmia LQTS 2 1 1 1/541 (Controls:0/750) NA 0 9 NA NA NA NA NA NA NA 356 rs199473510 NA NA NA NA 1 non-radical 5
KCNH2 358 substitution missense c.1387T>C p.F463L NA DAMAGING 0 2.88 probably damaging 0.919 0.0958 0.68 22 NA Transmembrane/Linker/Pore TM helical S2 NA Inherited Arrhythmia LQTS 3 1 NA NA 0 9 NA NA NA NA NA NA NA 358 rs199472904 NA NA NA NA 1 non-radical 5
KCNH2 360 substitution missense c.1408A>G p.N470D NA DAMAGING 0 2.88 probably damaging 0.992 0.0451 0.488 23 NA Transmembrane/Linker/Pore TM helical S2 NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 360 rs121912505 NA NA NA NA 1 non-radical 5
KCNH2 363 substitution missense c.1421C>T p.T474I NA DAMAGING 0 2.88 probably damaging 0.987 0.0541 0.534 89 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 3 2 NA NA 0 9 NA NA NA NA NA NA NA 363 rs199472906 NA NA NA NA 1 non-radical 5
KCNH2 368 substitution missense c.1468G>A p.A490T NA DAMAGING 0 2.88 probably damaging 0.947 0.0844 0.648 58 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 5 1 1 1/2500 (Controls:0/1300) NA 0 7 NA NA NA NA NA NA NA 368 rs28928905 NA NA NA NA 1 non-radical 5
KCNH2 369 substitution missense c.1474C>T p.H492Y NA DAMAGING 0 2.88 probably damaging 0.986 0.0556 0.541 83 NA Transmembrane/Linker/Pore TM cytoplasmic NA Inherited Arrhythmia LQTS 2 1 NA NA 0 7 NA NA NA NA NA NA NA 369 rs199472910 NA NA NA NA 1 non-radical 2
KCNH2 382 substitution missense c.1600C>T p.R534C NA DAMAGING 0 2.88 probably damaging 1 0 5e-05 180 NA Transmembrane/Linker/Pore TM helical S4 - voltage-sensor NA Inherited Arrhythmia LQTS 12 1 10 1/541 (Controls:0/750); 1/84 (Controls:100); 1/182 (Controls:98); 4/2500 (Controls:0/1300); 3/388 (Controls:0/>1300) NA 0 6 NA NA NA NA NA NA NA 382 rs199472916 NA NA NA NA 1 non-radical 5
KCNH2 390 substitution missense c.1681G>A p.A561T NA DAMAGING 0 2.88 probably damaging 0.981 0.0608 0.567 58 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 9 1 6 1/57 (Controls:150); 2/201; 1/541 (Controls:0/750); 1/7; 1/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 390 rs199472921 NA NA NA NA 1 non-radical 5
KCNH2 391 substitution missense c.1682C>T p.A561V NA DAMAGING 0 2.88 probably damaging 0.981 0.0608 0.567 64 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 17 2 16 6/201; 1/541 (Controls:0/750); 6/2500 (Controls:0/1300); 3/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 391 rs121912504 NA NA NA NA 1 non-radical 5
KCNH2 392 substitution missense c.1685A>C p.H562P NA DAMAGING 0 2.88 possibly damaging 0.722 0.146 0.776 77 NA Transmembrane/Linker/Pore TM helical S5 NA Inherited Arrhythmia LQTS 4 1 2 1/541 (Controls:0/750); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 392 rs199472922 NA NA NA NA 1 non-radical 5
KCNH2 404 substitution missense c.1711A>C p.I571L NA DAMAGING 0 2.88 probably damaging 0.974 0.068 0.593 5 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 2 1 1 1/541 (Controls:0/750) NA 0 9 NA NA NA NA NA NA NA 404 rs199472928 NA NA NA NA 1 non-radical 5
KCNH2 409 substitution missense c.1714G>A p.G572S NA DAMAGING 0 2.88 probably damaging 0.985 0.057 0.549 56 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 9 2 9 1/188 (Controls:200); 2/541 (Controls:0/750); 1/77 (Controls:100); 1/84 (Controls:100); 1/182 (Controls:98); 2/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 409 rs9333649 NA NA NA NA 1 non-radical 5
KCNH2 408 substitution missense c.1714G>C p.G572R NA DAMAGING 0 2.88 probably damaging 0.999 0.00759 0.0901 125 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 5 1 NA NA 0 9 NA NA NA NA NA NA NA 408 rs9333649 NA NA NA NA 1 non-radical 5
KCNH2 414 substitution missense c.1744C>T p.R582C NA DAMAGING 0 2.87 probably damaging 0.964 0.0752 0.619 180 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 8 1 10 1/57 (Controls:150); 2/40 (Controls:50); 1/13 families (Controls:16); 2/541 (Controls:0/750); 1/2500 (Controls:0/1300); 3/388 (Controls:0/>1300) NA 0 5 NA NA NA NA NA NA NA 414 rs121912508 NA NA NA NA 1 non-radical 1
KCNH2 419 substitution missense c.1750G>A p.G584S NA TOLERATED 0.16 2.88 possibly damaging 0.784 0.133 0.757 56 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 7 1 6 1/541 (Controls:0/750); 4/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 8 NA NA NA NA NA NA NA 419 rs199473428 NA NA NA NA 1 non-radical 5
KCNH2 427 substitution missense c.1778T>G p.I593R NA DAMAGING 0 2.88 probably damaging 0.926 0.0931 0.674 97 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 4 2 NA NA 0 4 NA NA NA NA NA NA NA 427 rs28928904 NA NA NA NA 1 non-radical 3
KCNH2 431 substitution missense c.1783A>G p.K595E NA TOLERATED 0.1 2.88 benign 0.262 0.245 0.869 56 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 2 1 NA NA 0 4 NA NA NA NA NA NA NA 431 rs199472932 NA NA NA NA 1 non-radical 5
KCNH2 435 substitution missense c.1787C>G p.P596R NA TOLERATED 0.74 2.88 benign 0.102 0.315 0.907 103 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 2 1 1 1/541 (Controls:0/750) NA 0 6 NA NA NA NA NA NA NA 435 rs199472933 NA NA NA NA 1 non-radical 3
KCNH2 439 substitution missense c.1801G>A p.G601S NA TOLERATED 0.47 2.88 benign 0.058 0.356 0.924 56 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 10 3 5 2/182 (Controls:98); 2/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 2 NA NA NA NA NA NA NA 439 rs199472936 NA NA NA NA 1 non-radical 3
KCNH2 441 substitution missense c.1810G>A p.G604S NA DAMAGING 0 2.88 probably damaging 0.995 0.0379 0.45 56 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 10 1 13 2/201; 1/40 (Controls:50); 4/541 (Controls:0/750); 2/2500 (Controls:0/1300); 4/388 (Controls:0/>1300) NA 0 5 NA NA NA NA NA NA NA 441 rs199473522 NA NA NA NA 1 non-radical 5
KCNH2 450 substitution missense c.1831T>C p.Y611H NA DAMAGING 0 2.88 probably damaging 0.98 0.0617 0.572 83 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 4 2 NA NA 0 8 NA NA NA NA NA NA NA 450 rs199472942 NA NA NA NA 1 non-radical 5
KCNH2 451 substitution missense c.1834G>T p.V612L NA TOLERATED 0.07 2.88 benign 0.267 0.244 0.869 32 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 2 1 NA NA 0 8 NA NA NA NA NA NA NA 451 rs199472943 NA NA NA NA 1 non-radical 5
KCNH2 453 substitution missense c.1841C>T p.A614V NA DAMAGING 0 2.88 probably damaging 0.99 0.0499 0.513 64 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 15 3 16 3/201; 2/541 (Controls:0/750); 2/182 (Controls:98); 6/2500 (Controls:0/1300); 3/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 453 rs199472944 NA NA NA NA 1 non-radical 5
KCNH2 462 substitution missense c.1868C>T p.T623I NA DAMAGING 0 2.88 probably damaging 0.979 0.0628 0.575 89 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 3 1 2 1/541 (Controls:0/750); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 462 rs199472950 NA NA NA NA 1 non-radical 5
KCNH2 471 substitution missense c.1882G>A p.G628S NA DAMAGING 0 2.88 probably damaging 0.997 0.0228 0.27 56 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 14 5 10 2/201; 2/541 (Controls:0/750); 1/7; 4/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 8 NA NA NA NA NA NA NA 471 rs121912507 NA NA NA NA 1 non-radical 5
KCNH2 473 substitution missense c.1885A>G p.N629D NA DAMAGING 0 2.88 probably damaging 0.996 0.0303 0.36 23 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 4 1 NA NA 1 CNGA3(T369S - 9) 9 NA NA NA NA NA NA NA 473 rs199472956 NA NA NA NA 1 non-radical 5
KCNH2 476 substitution missense c.1886A>G p.N629S NA DAMAGING 0 2.88 probably damaging 0.951 0.0824 0.642 46 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 6 1 3 2/201; 1/2500 (Controls:0/1300) NA 1 CNGA3(T369S - 9) 9 NA NA NA NA NA NA NA 476 rs199472957 NA NA NA NA 1 non-radical 5
KCNH2 479 substitution missense c.1888G>C p.V630L NA DAMAGING 0 2.88 possibly damaging 0.797 0.13 0.752 32 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 479 rs199472958 NA NA NA NA 1 non-radical 5
KCNH2 478 substitution missense c.1889T>C p.V630A NA DAMAGING 0 2.88 probably damaging 0.963 0.0758 0.621 64 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 5 2 2 1/201; 1/541 (Controls:0/750) NA 0 9 NA NA NA NA NA NA NA 478 rs199473526 NA NA NA NA 1 non-radical 5
KCNH2 480 substitution missense c.1891T>G p.S631A NA TOLERATED 0.27 2.88 possibly damaging 0.557 0.177 0.815 99 NA Transmembrane/Linker/Pore TM pore-forming H5 NA Inherited Arrhythmia LQTS 2 1 NA NA 1 HCN4(A485V - 9) 9 NA NA NA NA NA NA NA 480 rs199472959 NA NA NA NA 1 non-radical 5
KCNH2 482 substitution missense c.1897A>G p.N633D NA DAMAGING 0.01 2.88 possibly damaging 0.823 0.124 0.742 23 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 482 rs199472960 NA NA NA NA 1 non-radical 5
KCNH2 484 substitution missense c.1898A>G p.N633S NA DAMAGING 0.01 2.88 possibly damaging 0.801 0.129 0.751 46 NA Transmembrane/Linker/Pore TM extracellular NA Inherited Arrhythmia LQTS 8 1 5 1/57 (Controls:150); 1/13 families (Controls:16); 1/541 (Controls:0/750); 1/182 (Controls:98); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 484 rs199472961 NA NA NA NA 1 non-radical 5
KCNH2 495 substitution missense c.1918T>G p.F640V NA DAMAGING 0 2.88 probably damaging 0.991 0.0475 0.501 50 NA Transmembrane/Linker/Pore TM helical S6 NA Inherited Arrhythmia LQTS 3 1 2 1/541 (Controls:0/750); 1/388 (Controls:0/>1300) NA 1 CNGA3(F380S - 9) 9 NA NA NA NA NA NA NA 495 rs199473529 NA NA NA NA 1 non-radical 5
KCNH2 515 substitution missense c.2086C>T p.R696C NA DAMAGING 0 2.88 probably damaging 0.999 0.00759 0.0901 180 NA C-terminus NA Inherited Arrhythmia LQTS 2 1 1 1/29 (Controls:100) NA 2 CNGA3(R436W - 9); CNGB1(R916H - 9) 9 NA NA NA NA NA NA NA 515 rs199472984 NA NA NA NA 1 non-radical 5
KCNH2 1566 substitution nonsense c.2092G>T p.E698X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 3 1 1 1/40 (Controls:50) NA 0 9 NA NA NA NA NA NA NA 1566 NA NA NA NA 1 radical 5
KCNH2 526 substitution missense c.2254C>T p.R752W NA DAMAGING 0 2.87 probably damaging 0.999 0.00759 0.0901 101 NA C-terminus cNBD NA Inherited Arrhythmia LQTS 5 1 33 33/201 NA 0 9 NA NA NA NA NA NA NA 526 rs199472990 NA NA NA NA 1 non-radical 5
KCNH2 541 substitution missense c.2414T>G p.F805C NA DAMAGING 0 2.87 probably damaging 0.996 0.0303 0.36 205 NA C-terminus cNBD NA Inherited Arrhythmia LQTS 5 1 12 11/201; 1/541 (Controls:0/750) NA 1 CNGA3(F547L - 9) 9 NA NA NA NA NA NA NA 541 rs199472999 NA NA NA NA 1 non-radical 5
KCNH2 544 substitution missense c.2453C>T p.S818L NA DAMAGING 0 2.87 probably damaging 0.979 0.0628 0.575 145 NA C-terminus cNBD NA Inherited Arrhythmia LQTS 6 1 1 1/57 (Controls:150) NA 0 9 NA NA NA NA NA NA NA 544 rs121912510 NA NA NA NA 1 non-radical 5
KCNH2 547 substitution missense c.2464G>A p.V822M NA DAMAGING 0 2.87 probably damaging 0.997 0.0228 0.27 21 NA C-terminus cNBD NA Inherited Arrhythmia LQTS 8 2 21 1/57 (Controls:150); 18/201; 1/541 (Controls:0/750); 1/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 547 rs121912506 NA NA NA NA 1 non-radical 5
KCNH2 548 substitution missense c.2467C>T p.R823W NA DAMAGING 0 2.87 probably damaging 0.997 0.0228 0.27 101 NA C-terminus cNBD NA Inherited Arrhythmia LQTS 5 1 14 8/201; 1/77 (Controls:100); 5/2500 (Controls:0/1300) NA 1 CNGA3(R569H - 9) 9 NA NA NA NA NA NA NA 548 rs199473538 NA NA NA NA 1 non-radical 5
KCNH2 555 substitution missense c.2536C>A p.P846T NA TOLERATED 0.06 2.87 probably damaging 0.987 0.0541 0.534 38 NA C-terminus NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 555 rs199473006 NA NA NA NA 1 non-radical 5
KCNH2 1527 substitution nonsense c.2587C>T p.R863X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 7 1 7 1/40 (Controls:50); 1/541 (Controls:0/750); 3/2500 (Controls:0/1300); 2/388 (Controls:0/>1300) NA 0 3 NA NA NA NA NA NA NA 1527 NA NA NA NA 1 radical 5
KCNH2 2114 substitution essential splice site c.2592+1G>A NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 4 1 3 3/57 (Controls:150) NA 0 NA NA NA NA NA NA NA NA 2114 NA NA NA NA 1 radical NA
KCNH2 579 substitution missense c.2764C>T p.R922W NA DAMAGING 0.02 2.95 possibly damaging 0.898 0.103 0.698 101 NA C-terminus NA Inherited Arrhythmia LQTS 3 1 NA NA 0 2 NA NA NA NA NA NA NA 579 rs199473440 NA NA NA NA 1 non-radical 2
KCNH2 1689 deletion frameshift c.2768delC p.Pro923ArgfsX51 NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 2 1 NA NA 0 NA NA NA NA NA NA NA NA 1689 NA NA NA NA 1 radical NA
KCNH2 2018 insertion frameshift c.2775_2776insG p.Pro926AlafsX14 NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 4 2 NA NA 0 NA NA NA NA NA NA NA NA 2018 NA NA NA NA 1 radical NA
KCNH2 1607 substitution nonsense c.2781G>A p.W927X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 2 1 NA NA 0 1 NA NA NA NA NA NA NA 1607 NA NA NA NA 1 radical 3
KCNH2 1584 substitution nonsense c.3002G>A p.W1001X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 3 1 25 20/201; 5/2500 (Controls:0/1300) NA 0 1 NA NA NA NA NA NA NA 1584 NA NA NA NA 1 radical 5
KCNH2 1585 substitution nonsense c.3003G>A p.W1001X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 3 1 NA NA 0 1 NA NA NA NA NA NA NA 1585 rs121912509 NA NA NA NA 1 radical 5
KCNH2 1514 substitution nonsense c.3040C>T p.R1014X NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 5 2 2 1/541 (Controls:0/750); 1/2500 (Controls:0/1300) NA 0 1 NA NA NA NA NA NA NA 1514 NA NA NA NA 1 radical 3
KCNH2 2035 insertion frameshift c.3255_3256insG p.Pro1086AlafsX33 NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 3 1 2 1/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 NA NA NA NA NA NA NA NA 2035 NA NA NA NA 1 radical NA
SCN5A 1114 substitution missense c.1231G>A p.V411M NA *DAMAGING 0 3.4 probably damaging 0.999 0.00759 0.0901 21 NA TM Domain 1 TM domain S6 NA Inherited Arrhythmia LQTS 4 1 5 1/13; 1/541 (Controls:0/750); 3/2500 (Controls:0/1300) NA 2 SCN4A(V445M - 9); SCN9A(V400M - 9) 9 NA NA NA NA NA NA NA 1114 rs72549410 NA NA NA NA 1 non-radical 5
SCN5A 1150 substitution missense c.1715C>A p.A572D NA TOLERATED 0.16 3.4 benign 0.052 0.366 0.927 126 NA Interdomain Linker I-II NA Inherited Arrhythmia LQTS 6 1 3 3/541 (Controls:0/750) NA 0 1 NA 0.00400 (2) 0.0095 3 NA NA NA NA 1150 rs36210423 NA NA NA NA 1 non-radical 2
SCN5A 1995 indel inframe c.2821_2822delTCinsAA p.S941N NA NA NA NA NA NA NA NA Interdomain Linker II-III NA Inherited Arrhythmia LQTS 2 1 NA NA 0 NA NA NA NA NA NA NA NA 1995 rs137854605 NA NA NA NA 1 radical NA
SCN5A 1309 substitution missense c.3974A>G p.N1325S NA *DAMAGING 0 3.4 possibly damaging 0.804 0.128 0.75 46 NA TM Domain 3 TM intracellular S4-S5 NA Inherited Arrhythmia LQTS 8 3 7 2/541 (Controls:0/750); 1/84 (Controls:100); 3/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 9 NA NA NA NA NA NA NA 1309 rs28937317 NA NA NA NA 1 non-radical 2
SCN5A 1314 substitution missense c.3995C>T p.P1332L NA *DAMAGING 0 3.4 probably damaging 0.99 0.0499 0.513 98 NA TM Domain 3 TM intracellular S4-S5 NA Inherited Arrhythmia LQTS,BrS 5 1 2 1/182 (Controls:98); 1/2111 (Controls:0/1300) NA 2 SCN4A(P1158S - 9); SCN9A(P1308L - 9) 9 NA NA NA NA NA NA NA 1314 rs199473225 NA NA NA NA 1 non-radical 5
SCN5A 1315 substitution missense c.3998C>A p.S1333Y NA *DAMAGING 0 3.4 probably damaging 0.999 0.00759 0.0901 144 NA TM Domain 3 TM intracellular S4-S5 NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 1315 rs199473604 NA NA NA NA 1 non-radical 2
SCN5A 1337 substitution missense c.4222G>A p.G1408R NA *DAMAGING 0 3.4 probably damaging 0.996 0.0303 0.36 125 NA TM Domain 3 TM pore segment NA Inherited Arrhythmia LQTS,BrS 4 1 8 1/147 (Controls:100); 7/2111 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 1337 rs137854612,rs28936971 NA NA NA NA 1 non-radical 5
SCN5A 1884 deletion inframe c.4519_4527delCAGAAGCCC NA NA NA NA NA NA NA NA Interdomain Linker III-IV NA Inherited Arrhythmia LQTS 11 4 3 1/541 (Controls:0/750); 1/2500 (Controls:0/1300); 1/388 (Controls:0/>1300) NA 0 NA NA NA NA NA NA NA NA 1884 NA NA NA NA 1 radical NA
SCN5A 1392 substitution missense c.4786T>A p.F1596I NA *DAMAGING 0.03 3.41 benign 0.362 0.219 0.85 21 NA TM Domain 4 TM domain S3 NA Inherited Arrhythmia LQTS 2 1 2 2/2500 (Controls:0/1300) NA 0 9 NA NA NA NA NA NA NA 1392 rs199473278 NA NA NA NA 1 non-radical 5
SCN5A 1886 deletion inframe c.4850_4852delTCT NA NA NA NA NA NA NA NA TM Domain 4 TM extracellular S3-S4 NA Inherited Arrhythmia LQTS,BrS 5 1 2 1/9 (Controls:0/50); 1/2500 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA NA 1886 NA NA NA NA 1 radical NA
SCN5A 1397 substitution missense c.4859C>A p.T1620K NA *DAMAGING 0 3.4 possibly damaging 0.898 0.103 0.698 78 NA TM Domain 4 TM extracellular S3-S4 NA Inherited Arrhythmia LQTS 1 1 NA NA 0 7 NA NA NA NA NA NA NA 1397 rs199473282 NA NA NA NA 1 non-radical 3
SCN5A 1400 substitution missense c.4868G>A p.R1623Q NA *DAMAGING 0 3.4 benign 0.363 0.219 0.85 43 NA TM Domain 4 TM domain S4 (voltage-sensor) NA Inherited Arrhythmia LQTS,BrS 12 3 4 2/2500 (Controls:0/1300); 1/388 (Controls:0/>1300); 1/2111 (Controls:0/1300) NA 8 SCN1A(R1636Q - 6); SCN4A(R1448S - 6); SCN4A(R1448C - 6); SCN4A(R1448H - 6); SCN4A(R1448P - 6); SCN4A(R1448L - 6); CACNA1F(R1296S - 6); CACNA1A(R1662H - 6) 6 NA NA NA NA NA NA NA 1400 rs137854600 NA NA NA NA 1 non-radical 3
SCN5A 1402 substitution missense c.4877G>C p.R1626P NA *DAMAGING 0 3.4 probably damaging 0.999 0.00759 0.0901 103 NA TM Domain 4 TM domain S4 (voltage-sensor) NA Inherited Arrhythmia LQTS 4 2 1 Jan-13 NA 5 SCN1A(R1639G - 6); SCN4A(R1451C - 6); CACNA1S(R1239G - 6); CACNA1S(R1239H - 6); CACNA1A(R1665Q - 6) 6 NA NA NA NA NA NA NA 1402 rs199473283 NA NA NA NA 1 non-radical 3
SCN5A 1409 substitution missense c.4931G>A p.R1644H NA *DAMAGING 0 3.4 possibly damaging 0.841 0.119 0.732 29 NA TM Domain 4 TM domain S4 (voltage-sensor) NA Inherited Arrhythmia LQTS 7 2 3 2/541 (Controls:0/750); 1/388 (Controls:0/>1300) NA 3 SCN1A(R1657C - 9); SCN1A(R1657H - 9); CACNA1A(R1680C - 9) 9 NA NA NA NA NA NA NA 1409 rs28937316 NA NA NA NA 1 non-radical 5
SCN5A 1445 substitution missense c.5300A>G p.Y1767C NA *DAMAGING 0 3.4 probably damaging 0.961 0.0771 0.625 194 NA TM Domain 4 TM domain S6 NA Inherited Arrhythmia LQTS 2 1 NA NA 2 SCN1A(Y1781H - 9); SCN1A(Y1781C - 9) 9 NA NA NA NA NA NA NA 1445 rs199473632 NA NA NA NA 1 non-radical 5
SCN5A 1457 substitution missense c.5369A>G p.D1790G NA *DAMAGING 0 3.4 probably damaging 0.998 0.0152 0.18 94 NA C-terminus NA Inherited Arrhythmia LQTS 5 1 NA NA 0 8 NA NA NA NA NA NA NA 1457 rs199473317 NA NA NA NA 1 non-radical 5
SCN5A 2091 insertion inframe c.5387_5388insTGA NA NA NA NA NA NA NA NA C-terminus NA Inherited Arrhythmia LQTS 7 1 2 1/388 (Controls:0/>1300); 1/2111 (Controls:0/1300) NA 0 NA NA NA NA NA NA NA NA 2091 NA NA NA NA 1 radical NA
KCNE1 170 substitution missense c.154G>A p.G52R NA DAMAGING 0 2.78 probably damaging 0.936 0.0889 0.663 125 NA Transmembrane region NA Inherited Arrhythmia LQTS 2 1 NA NA 0 9 NA NA NA NA NA NA NA 170 rs199473354 NA NA NA NA 1 non-radical 3
KCNE1 182 substitution missense c.221C>T p.S74L NA DAMAGING 0 2.78 probably damaging 0.992 0.0451 0.488 145 NA C-terminus NA Inherited Arrhythmia LQTS 3 1 NA NA 0 9 NA 0.00132 (1) 0.00089 2 0.00046 1 NA NA 182 rs74315446 NA NA NA NA 1 non-radical 3
KCNE1 190 substitution missense c.292C>T p.R98W NA DAMAGING 0 2.89 probably damaging 0.99 0.0499 0.513 101 NA C-terminus NA Inherited Arrhythmia LQTS 3 1 NA NA 0 5 NA NA NA NA NA NA NA 190 rs199473362 NA NA NA NA 1 non-radical 3
KCNJ2 641 substitution missense c.202T>G p.Y68D NA DAMAGING 0 2.85 probably damaging 0.994 0.0403 0.463 160 NA N-terminus NA Inherited Arrhythmia LQTS 2 1 1 1/11 families (Controls:80) NA 1 KCNJ11(F55L - 9) 8 NA NA NA NA NA NA NA 641 rs199473651 NA NA NA NA 1 non-radical 5
KCNJ2 644 substitution missense c.220A>G p.T74A NA DAMAGING 0 2.85 possibly damaging 0.739 0.142 0.771 58 NA N-terminus NA Inherited Arrhythmia LQTS 3 1 NA NA 0 9 NA NA NA NA NA NA NA 644 rs199473652 NA NA NA NA 1 non-radical 5
KCNJ2 646 substitution missense c.224C>T p.T75M NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 81 NA N-terminus NA Inherited Arrhythmia LQTS 2 1 1 1/11 families (Controls:80) NA 2 KCNJ1(T71M - 9); KCNJ11(T62M - 9) 9 NA NA NA NA NA NA NA 646 rs104894585 NA NA NA NA 1 non-radical 5
KCNJ2 649 substitution missense c.232G>T p.D78Y NA DAMAGING 0 2.85 probably damaging 1 0 5e-05 160 NA N-terminus NA Inherited Arrhythmia LQTS 2 1 NA NA 1 KCNJ1(D74Y - 9) 9 NA NA NA NA NA NA NA 649 rs199473372 NA NA NA NA 1 non-radical 5
CACNA1C 104 substitution missense c.1204G>A p.G402S NA DAMAGING 0 2.79 probably damaging 0.999 0.00759 0.0901 56 NA TM domain 1 NA Inherited Arrhythmia LQTS 2 1 NA NA 1 CACNA1F(G369D - 9) 9 NA NA NA NA NA NA NA 104 rs80315385 NA NA NA NA 1 non-radical 5
CACNA1C 105 substitution missense c.1216G>A p.G406R NA DAMAGING 0.01 2.78 probably damaging 1 0 5e-05 125 NA Interdomain Linker I-II NA Inherited Arrhythmia LQTS 5 1 NA NA 0 9 NA NA NA NA NA NA NA 105 rs79891110 NA NA NA NA 1 non-radical 5
CAV3 8456 substitution missense c.233C>T p.T78M NA TOLERATED 0.15 2.6 possibly damaging 0.738 0.142 0.772 81 NA N-terminus DAG1 interaction NA Inherited Arrhythmia LQTS 2 1 3 3/905 (Controls:500) NA 0 NA NA 0.00556 (2) 0.0042675 30 0.00183 4 NA NA 8456 rs72546668 0.00442 38 0.00409 18 1 non-radical 3
KCNQ1 704 substitution missense c.356G>A p.G119D NA DAMAGING 0 2.86 benign 0.271 0.242 0.868 94 NA N-terminus NA Benign 1 0 NA NA 1 KCNV2(S256W - 9) 9 NA NA NA NA NA NA NA 704 rs199472680 NA NA NA NA -1 non-radical 2
KCNQ1 707 substitution missense c.385G>A p.V129I NA TOLERATED 0.09 2.86 benign 0.277 0.241 0.867 29 NA Transmembrane/Linker/Pore TM helical S1 NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 9 NA NA NA NA NA NA NA 707 rs199472683 NA NA NA NA -1 non-radical 2
KCNQ1 735 substitution missense c.541C>T p.R181C NA TOLERATED 0.4 2.85 benign 0.402 0.21 0.843 180 NA Transmembrane/Linker/Pore TM cytoplasmic NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 735 rs199473395 NA NA NA NA -1 non-radical 4
KCNQ1 752 substitution missense c.584G>A p.R195Q NA DAMAGING 0.01 2.85 probably damaging 0.957 0.0791 0.632 43 NA Transmembrane/Linker/Pore TM cytoplasmic NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 9 NA 0.00022 (1) 0.00022 1 NA NA NA NA 752 rs138362632 0.00035 3 0 0 -1 non-radical 2
KCNQ1 825 substitution missense c.889G>A p.G297S NA TOLERATED 1 2.85 benign 0.02 0.441 0.949 56 NA Transmembrane/Linker/Pore TM extracellular NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 9 NA 0.01282 (1) 0.00652 2 NA NA NA NA 825 rs34320941 0 0 0.00023 1 -1 non-radical 3
KCNQ1 870 substitution missense c.1003T>C p.F335L NA TOLERATED 0.86 2.85 benign 0.217 0.259 0.879 22 NA Transmembrane/Linker/Pore TM helical S6 NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 9 NA NA NA NA NA NA NA 870 rs199472757 NA NA NA NA -1 non-radical 5
KCNQ1 924 substitution missense c.1283A>G p.D428G NA TOLERATED 0.21 2.85 benign 0.009 0.511 0.963 94 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 924 rs199472779 NA NA NA NA -1 non-radical 2
KCNQ1 925 substitution missense c.1321C>T p.P441S NA TOLERATED 0.07 2.87 possibly damaging 0.576 0.174 0.812 74 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 925 rs199473475 0.00012 1 0 0 -1 non-radical 4
KCNQ1 932 substitution missense c.1355G>A p.R452Q NA TOLERATED 0.54 2.85 benign 0.253 0.248 0.871 43 NA C-terminus NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 1 NA 0.00022 (1) 0.00022 1 NA NA NA NA 932 rs145229963 0.00012 1 0.00023 1 -1 non-radical 2
KCNQ1 17199 substitution missense c.1442G>T p.R481I NA DAMAGING 0.05 2.92 benign 0.374 0.216 0.848 97 NA C-terminus NA Benign 0 0 NA NA 0 1 NA NA NA NA NA NA NA 17199 NA NA NA NA -1 non-radical 3
KCNQ1 938 substitution missense c.1451G>C p.S484T NA TOLERATED 0.46 2.91 probably damaging 0.95 0.0829 0.644 58 NA C-terminus NA Benign 1 0 NA NA 0 1 NA NA NA NA NA NA NA 938 rs199473477 NA NA NA NA -1 non-radical 3
KCNQ1 946 substitution missense c.1556G>A p.R519H NA TOLERATED 0.12 2.86 probably damaging 0.985 0.057 0.549 29 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 946 rs199472788 NA NA NA NA -1 non-radical 3
KCNQ1 996 substitution missense c.1861G>A p.G621S NA TOLERATED 1 2.88 benign 0.002 0.824 0.989 56 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 996 rs199472820 NA NA NA NA -1 non-radical 1
KCNQ1 1001 substitution missense c.1942G>A p.V648I NA TOLERATED 0.2 3.02 benign 0 1 1 29 NA C-terminus NA Benign 2 0 0 0/388 (Controls:9/>1300) NA 0 3 NA 0.01829 (13) 0.009906 36 0.00504 11 NA NA 1001 rs34150427 0.00024 2 0.01774 76 -1 non-radical 1
KCNH2 301 substitution missense c.542G>A p.R181Q NA TOLERATED 0.38 3.02 benign 0.394 0.212 0.845 43 NA N-terminus NA Benign 2 0 0 0/388 (Controls:5/>1300) NA 0 1 NA 0.02174 (2) 0.0095566667 27 0.00504 11 NA NA 301 rs41308954 NA NA NA NA -1 non-radical 1
KCNH2 1845 deletion inframe c.559_567delGGCGCGGGC P.Gly187_Gly189del NA NA NA NA NA NA NA NA N-terminus NA Benign 2 0 0 0/388 (Controls:3/>1300) NA 0 NA NA NA NA NA NA NA NA 1845 NA NA NA NA -1 radical NA
KCNH2 302 substitution missense c.559G>A p.G187S NA TOLERATED 0.85 3.06 benign 0.002 0.824 0.989 56 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 0 NA NA NA NA NA NA NA 302 rs199472867 NA NA NA NA -1 non-radical 1
KCNH2 303 substitution missense c.568G>A p.A190T NA TOLERATED 0.73 3.09 benign 0.025 0.423 0.945 58 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 0 NA 0.00134 (1) 0.00134 1 NA NA NA NA 303 rs150817714 NA NA NA NA -1 non-radical 1
KCNH2 304 substitution missense c.607G>A p.A203T NA TOLERATED 0.59 3.06 benign 0.001 0.912 0.994 58 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 304 rs199472868 NA NA NA NA -1 non-radical 1
KCNH2 305 substitution missense c.644T>G p.V215G NA DAMAGING 0.04 3.07 benign 0.244 0.251 0.873 109 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 305 rs199473500 NA NA NA NA -1 non-radical 1
KCNH2 307 substitution missense c.707G>T p.G236V NA TOLERATED 0.27 3.11 benign 0.032 0.402 0.938 109 NA N-terminus NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 307 rs199472870 NA NA NA NA -1 non-radical 2
KCNH2 311 substitution missense c.751C>G p.P251A NA TOLERATED 0.65 3.07 benign 0.068 0.345 0.92 27 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 311 rs199472873 NA NA NA NA -1 non-radical 3
KCNH2 314 substitution missense c.762C>G p.H254Q NA TOLERATED 0.38 3.07 benign 0.002 0.824 0.989 24 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 314 rs199473502 NA NA NA NA -1 non-radical 2
KCNH2 315 substitution missense c.769A>C p.N257H NA TOLERATED 0.52 3.07 benign 0.006 0.548 0.97 68 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 315 rs199472875 NA NA NA NA -1 non-radical 3
KCNH2 337 substitution missense c.1099A>T p.T367S NA TOLERATED 0.15 2.96 benign 0.235 0.253 0.875 58 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 337 rs2228160,rs199472890 NA NA NA NA -1 non-radical 2
KCNH2 15527 substitution missense c.1539C>A p.F513L NA DAMAGING 0.03 2.88 benign 0.262 0.245 0.869 22 NA Transmembrane/Linker/Pore TM helical S3 NA Benign 0 0 NA NA 0 9 NA NA NA NA NA NA NA 15527 NA NA NA NA -1 non-radical NA
KCNH2 15528 substitution missense c.1539C>G p.F513L NA DAMAGING 0.03 2.88 benign 0.262 0.245 0.869 22 NA Transmembrane/Linker/Pore TM helical S3 NA Benign 0 0 NA NA 0 9 NA NA NA NA NA NA NA 15528 NA NA NA NA -1 non-radical NA
KCNH2 563 substitution missense c.2624C>T p.T875M NA TOLERATED 0.08 3.11 benign 0.112 0.308 0.904 81 NA C-terminus NA Benign 1 0 NA NA 0 2 NA 0.00022 (1) 0.00022 1 NA NA NA NA 563 rs140743924 NA NA NA NA -1 non-radical 1
KCNH2 15523 substitution missense c.2690A>G p.K897R NA TOLERATED 0.66 2.9 benign 0 1 1 26 NA C-terminus NA Benign 0 0 NA NA 0 1 NA NA NA NA NA NA NA 15523 rs1805123 0.23256 2000 0.04517 199 -1 non-radical 2
KCNH2 15522 substitution missense c.2690A>T p.K897M NA DAMAGING 0.02 2.9 benign 0.063 0.35 0.922 95 NA C-terminus NA Benign 0 0 NA NA 0 1 NA NA NA NA NA NA NA 15522 rs1805123 0.76744 6600 0.95483 4207 -1 non-radical 2
KCNH2 572 substitution missense c.2729C>T p.P910L NA TOLERATED 0.43 2.98 benign 0.001 0.912 0.994 98 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 572 rs199473436 NA NA NA NA -1 non-radical 2
KCNH2 17244 deletion inframe c.2731_2778del p.Gly911_Pro926del NA NA NA NA NA NA NA NA C-terminus NA Benign 1 0 0 0/388 (Controls:6/>1300) NA 0 NA NA NA NA NA NA NA NA 17244 NA NA NA NA -1 radical NA
KCNH2 574 substitution missense c.2744C>T p.A915V NA TOLERATED 0.31 3 benign 0.011 0.492 0.96 64 NA C-terminus NA Benign 2 0 0 0/388 (Controls:6/>1300) NA 0 1 NA NA NA NA NA NA NA 574 rs199473437 NA NA NA NA -1 non-radical 2
KCNH2 591 substitution missense c.2893G>A p.G965R NA TOLERATED 0.56 2.93 benign 0.001 0.912 0.994 125 NA C-terminus NA Benign 1 0 NA NA 0 2 NA NA NA NA NA NA NA 591 rs199473015 NA NA NA NA -1 non-radical 2
KCNH2 592 substitution missense c.2900C>T p.P967L NA TOLERATED 0.15 2.93 benign 0 1 1 98 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 592 rs199473016 NA NA NA NA -1 non-radical 1
KCNH2 594 substitution missense c.2932G>A p.E978K NA TOLERATED 0.58 2.92 benign 0.006 0.548 0.97 56 NA C-terminus NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 2 NA 0.00030 (1) 3e-04 1 NA NA NA NA 594 rs141117135 NA NA NA NA -1 non-radical 2
KCNH2 595 substitution missense c.2941A>G p.S981G NA TOLERATED 0.41 2.92 benign 0.002 0.824 0.989 56 NA C-terminus NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 3 NA 0.00132 (1) 0.0006866667 3 0.00046 1 NA NA 595 rs76649554 NA NA NA NA -1 non-radical 3
KCNH2 603 substitution missense c.3046C>T p.P1016S NA TOLERATED 0.7 2.92 benign 0.015 0.464 0.954 74 NA C-terminus NA Benign 0 0 NA NA 0 2 NA 0.02500 (2) 0.018218 12 NA NA NA NA 603 rs41307280 NA NA NA NA -1 non-radical 3
KCNH2 602 substitution missense c.3047C>T p.P1016L NA TOLERATED 0.19 2.92 benign 0.142 0.291 0.896 98 NA C-terminus NA Benign 0 0 NA NA 0 2 NA 0.02500 (2) 0.01553 4 NA NA NA NA 602 rs41313074 NA NA NA NA -1 non-radical 3
KCNH2 606 substitution missense c.3058C>T p.P1020S NA TOLERATED 0.83 2.97 benign 0.007 0.536 0.968 74 NA C-terminus NA Benign 0 0 NA NA 0 1 NA 0.04762 (4) 0.030048 20 NA NA NA NA 606 rs41307274 NA NA NA NA -1 non-radical 2
KCNH2 1842 deletion inframe c.3067_3069del p.Leu1023del NA NA NA NA NA NA NA NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 NA NA NA NA NA NA NA NA 1842 NA NA NA NA -1 radical NA
KCNH2 607 substitution missense c.3077C>T p.P1026L NA TOLERATED 0.69 2.97 possibly damaging 0.497 0.19 0.825 98 NA C-terminus NA Benign 0 0 NA NA 0 1 NA 0.11905 (4) 0.084584 56 NA NA NA NA 607 rs41307271 NA NA NA NA -1 non-radical 3
KCNH2 612 substitution missense c.3103C>T p.R1035W NA TOLERATED 0.18 2.93 possibly damaging 0.877 0.11 0.712 101 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 612 rs199473543 NA NA NA NA -1 non-radical 3
KCNH2 614 substitution missense c.3109G>A p.D1037N NA TOLERATED 0.07 2.91 benign 0.128 0.298 0.9 23 NA C-terminus NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 614 rs199473023 NA NA NA NA -1 non-radical 3
KCNH2 620 substitution missense c.3164G>A p.R1055Q NA TOLERATED 0.4 2.92 benign 0.022 0.434 0.947 43 NA C-terminus NA Benign 1 0 NA NA 0 1 NA 0.02174 (2) 0.007325 6 0.00046 1 NA NA 620 rs41307270 NA NA NA NA -1 non-radical 5
KCNH2 621 substitution missense c.3173C>A p.A1058E NA TOLERATED 0.13 2.92 benign 0.032 0.402 0.938 107 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 2 NA 0.01064 (1) 0.006655 2 NA NA NA NA 621 rs41313752 NA NA NA NA -1 non-radical 2
KCNH2 623 substitution missense c.3203A>G p.Q1068R NA DAMAGING 0.03 2.95 benign 0.242 0.251 0.874 43 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300) NA 0 1 NA 0.00023 (1) 0.00023 1 NA NA NA NA 623 rs151031345 NA NA NA NA -1 non-radical 5
KCNH2 627 substitution missense c.3289G>A p.V1097I NA TOLERATED 0.17 3.05 benign 0 1 1 29 NA C-terminus NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 627 rs199473030 NA NA NA NA -1 non-radical 2
KCNH2 628 substitution missense c.3322C>G p.L1108V NA TOLERATED 0.48 3.1 possibly damaging 0.534 0.183 0.819 32 NA C-terminus NA Benign 1 0 NA NA 0 1 NA NA NA NA NA NA NA 628 rs199473031 NA NA NA NA -1 non-radical 3
KCNH2 12037 indel splice site c.3331-7delAinsGT NA NA NA NA NA NA NA NA C-terminus NA Benign 0 0 NA NA 0 NA NA 0.05285 (2) 0.02373 56 0.01282 28 NA NA 12037 rs141404763 NA NA NA NA -1 radical NA
KCNH2 15520 deletion splice site c.3331-9_3331-8delGT NA NA NA NA NA NA NA NA C-terminus NA Benign 0 0 NA NA 0 NA NA 0.05285 (2) 0.02373 56 0.01282 28 NA NA 15520 rs141404763 NA NA NA NA -1 radical NA
KCNH2 12036 deletion splice site c.3331-7delA NA NA NA NA NA NA NA NA C-terminus NA Benign 0 0 NA NA 0 NA NA 0.05285 (2) 0.02373 56 0.01282 28 NA NA 12036 rs141404763 NA NA NA NA -1 radical NA
KCNH2 631 substitution missense c.3355G>C p.E1119Q NA TOLERATED 0.51 3.21 probably damaging 0.968 0.0728 0.61 29 NA C-terminus NA Benign 1 0 0 0/388 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 631 rs199473033 NA NA NA NA -1 non-radical 3
KCNH2 635 substitution missense c.3460G>A p.G1154S NA TOLERATED 0.53 3.41 benign 0.072 0.342 0.919 56 NA C-terminus NA Benign 1 0 NA NA 0 2 NA NA NA NA NA NA NA 635 rs199473548 NA NA NA NA -1 non-radical 3
SCN5A 1013 substitution missense c.101G>A p.R34H NA *DAMAGING 0.02 3.43 benign 0.253 0.248 0.871 29 NA N-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 3 NA NA NA NA NA NA NA 1013 rs199473046 NA NA NA NA -1 non-radical 3
SCN5A 17203 substitution missense c.856G>C p.A286P NA TOLERATED 0.24 3.41 benign 0.066 0.347 0.921 27 NA TM Domain 1 TM pore segment NA Benign 0 0 NA NA 1 CACNA1H(E282K - 2) 2 NA NA NA NA NA NA NA 17203 NA NA NA NA -1 non-radical 1
SCN5A 17202 substitution missense c.856G>A p.A286T NA TOLERATED 0.56 3.41 benign 0.023 0.431 0.946 58 NA TM Domain 1 TM pore segment NA Benign 0 0 NA NA 1 CACNA1H(E282K - 2) 2 NA NA NA NA NA NA NA 17202 NA NA NA NA -1 non-radical 1
SCN5A 1074 substitution missense c.856G>T p.A286S NA TOLERATED 0.73 3.41 benign 0.014 0.471 0.955 99 NA TM Domain 1 TM pore segment NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 1 CACNA1H(E282K - 2) 2 NA 0.00407 (2) 0.00605 5 0.00092 2 NA NA 1074 rs61746118 NA NA NA NA -1 non-radical 1
SCN5A 1078 substitution missense c.872A>G p.N291S NA TOLERATED 0.16 3.59 benign 0.192 0.268 0.884 46 NA TM Domain 1 TM pore segment NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 5 NA NA NA NA NA NA NA 1078 rs199473563 NA NA NA NA -1 non-radical 5
SCN5A 1082 substitution missense c.895T>A p.L299M NA TOLERATED 0.37 3.41 benign 0.026 0.42 0.944 15 NA TM Domain 1 TM pore segment NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 3 NA NA NA NA NA NA NA 1082 rs199473087 0.99988 8433 0.99834 4197 -1 non-radical 1
SCN5A 1102 substitution missense c.1126C>T p.R376C NA *DAMAGING 0 3.4 probably damaging 0.981 0.0608 0.567 180 NA TM Domain 1 TM pore segment NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 8 NA NA NA NA NA NA NA 1102 rs199473100 NA NA NA NA -1 non-radical 3
SCN5A 1121 substitution missense c.1340C>G p.A447G NA TOLERATED 0.25 3.4 benign 0.444 0.201 0.835 60 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 3 NA NA NA NA NA NA NA 1121 rs199473113 1 8340 0.99925 3979 -1 non-radical 3
SCN5A 1122 substitution missense c.1345A>G p.T449A NA TOLERATED 0.68 3.4 benign 0 1 1 58 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 3 NA NA NA NA NA NA NA 1122 rs199473571 NA NA NA NA -1 non-radical 1
SCN5A 1123 substitution missense c.1383G>T p.L461F NA TOLERATED 0.7 3.4 benign 0.005 0.561 0.972 22 NA Interdomain Linker I-II NA Benign 0 0 NA NA 0 4 NA 0.02632 (1) 0.0132066667 3 NA NA NA NA 1123 rs41312431 NA NA NA NA -1 non-radical 2
SCN5A 1128 substitution missense c.1425A>C p.R475S NA TOLERATED 0.32 3.42 possibly damaging 0.895 0.104 0.7 110 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 1128 rs199473116 NA NA NA NA -1 non-radical 1
SCN5A 1129 substitution missense c.1441C>T p.R481W NA *DAMAGING 0.01 3.4 benign 0.005 0.561 0.972 101 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:6/>1300); 0/2111 (Controls:6/>1300) NA 0 2 NA 0.01220 (7) 0.0060566667 14 0.00321 7 NA NA 1129 rs144511230 NA NA NA NA -1 non-radical 2
SCN5A 1147 substitution missense c.1703G>A p.R568H NA *DAMAGING 0.04 3.41 benign 0.003 0.736 0.983 29 NA Interdomain Linker I-II NA Benign 2 0 0 0/2111 (Controls:1/>1300); 0/388 (Controls:1/>1300) NA 0 3 NA NA NA NA NA NA NA 1147 rs199473125 NA NA NA NA -1 non-radical 2
SCN5A 1158 substitution missense c.1776C>A p.N592K NA TOLERATED 0.26 3.43 benign 0.346 0.223 0.853 94 NA Interdomain Linker I-II NA Benign 2 0 0 0/2111 (Controls:1/>1300); 0/388 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 1158 rs199473130 NA NA NA NA -1 non-radical 1
SCN5A 1159 substitution missense c.1787A>G p.D596G NA TOLERATED 0.09 3.41 possibly damaging 0.908 0.1 0.69 94 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 2 SCN2A(D649N - 2); SCN9A(D623N - 2) 2 NA NA NA NA NA NA NA 1159 rs199473131 NA NA NA NA -1 non-radical 3
SCN5A 1160 substitution missense c.1802T>C p.V601A NA TOLERATED 0.13 3.41 possibly damaging 0.583 0.173 0.81 64 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 1160 rs199473132 NA NA NA NA -1 non-radical 3
SCN5A 1167 substitution missense c.1913G>A p.G638D NA TOLERATED 0.36 3.42 benign 0.261 0.246 0.87 94 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 1167 rs199473578 NA NA NA NA -1 non-radical 2
SCN5A 1174 substitution missense c.1967C>T p.P656L NA *DAMAGING 0 3.4 possibly damaging 0.85 0.117 0.727 98 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 3 NA 0.00552 (2) 0.0058983333 9 0.00137 3 NA NA 1174 rs41313681 NA NA NA NA -1 non-radical 3
SCN5A 1176 substitution missense c.2014G>A p.A672T NA TOLERATED 1 3.4 benign 0.001 0.912 0.994 58 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 3 NA NA NA NA NA NA NA 1176 rs199473140 NA NA NA NA -1 non-radical 2
SCN5A 1186 substitution missense c.2114C>T p.S705F NA *DAMAGING 0 3.4 benign 0.154 0.285 0.893 155 NA Interdomain Linker I-II NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 7 NA NA NA NA NA NA NA 1186 rs199473148 NA NA NA NA -1 non-radical 2
SCN5A 1226 substitution missense c.2770G>A p.V924I NA *DAMAGING 0 3.4 benign 0.05 0.369 0.928 29 NA TM Domain 2 TM domain S6 NA Benign 2 0 0 0/388 (Controls:2/>1300); 0/2111 (Controls:2/>1300) NA 0 9 NA NA NA NA NA NA NA 1226 rs199473177 NA NA NA NA -1 non-radical 2
SCN5A 1236 substitution missense c.2911C>G p.R971G NA TOLERATED 0.22 3.4 benign 0.133 0.296 0.898 125 NA Interdomain Linker II-III NA Benign 0 0 NA NA 0 4 NA 0.94118 32 NA NA NA NA 1236 rs61737825 NA NA NA NA -1 non-radical 1
SCN5A 1240 substitution missense c.2957G>A p.R986Q NA TOLERATED 0.37 3.41 benign 0.002 0.824 0.989 43 NA Interdomain Linker II-III NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 2 NA 0.01064 (1) 0.006655 2 NA NA NA NA 1240 rs41313667 NA NA NA NA -1 non-radical 2
SCN5A 1245 substitution missense c.3047C>T p.T1016M NA TOLERATED 0.22 3.43 benign 0.206 0.262 0.881 81 NA Interdomain Linker II-III NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 1245 rs199473185 NA NA NA NA -1 non-radical 1
SCN5A 1247 substitution missense c.3118G>A p.G1040R NA TOLERATED 0.08 3.39 benign 0.012 0.485 0.958 125 NA Interdomain Linker II-III NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 1247 rs199473186 NA NA NA NA -1 non-radical 1
SCN5A 15555 substitution missense c.3183A>T p.E1061D NA TOLERATED 0.42 3.39 benign 0.011 0.492 0.96 45 NA Interdomain Linker II-III NA Benign 0 0 NA NA 0 3 NA NA NA NA NA NA NA 15555 NA NA NA NA -1 non-radical NA
SCN5A 15556 substitution missense c.3183A>C p.E1061D NA TOLERATED 0.42 3.39 benign 0.011 0.492 0.96 45 NA Interdomain Linker II-III NA Benign 0 0 NA NA 0 3 NA NA NA NA NA NA NA 15556 NA NA NA NA -1 non-radical NA
SCN5A 1878 deletion inframe c.3229_3231delCAG p.Gln1077del NA NA NA NA NA NA NA NA Interdomain Linker II-III NA Benign 1 0 NA NA 0 NA NA NA NA NA NA NA NA 1878 NA NA NA NA -1 radical NA
SCN5A 1254 substitution missense c.3245T>C p.V1082A NA TOLERATED 0.63 3.45 benign 0.002 0.824 0.989 64 NA Interdomain Linker II-III NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 1254 rs199473189 NA NA NA NA -1 non-radical 2
SCN5A 1996 indel inframe c.3252delC+3263insC p.WPRG1085_1088GPEA NA NA NA NA NA NA NA NA Interdomain Linker II-III NA Benign 1 0 NA NA 0 NA NA NA NA NA NA NA NA 1996 NA NA NA NA -1 radical NA
SCN5A 1257 substitution missense c.3292G>T p.V1098L NA TOLERATED 0.23 3.42 benign 0.048 0.372 0.929 32 NA Interdomain Linker II-III NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 1257 rs199473191 NA NA NA NA -1 non-radical 2
SCN5A 1261 substitution missense c.3308C>A p.S1103Y NA *DAMAGING 0 3.42 benign 0.438 0.203 0.836 144 NA Interdomain Linker II-III NA Benign 4 0 0 0/388 (Controls:31/>1300); 0/2111 (Controls:31/>1300) NA 0 0 NA 0.08511 (5) 0.0397625 105 0.0119 26 NA NA 1261 rs7626962 NA NA NA NA -1 non-radical 2
SCN5A 1265 substitution missense c.3346C>T p.R1116W NA *DAMAGING 0 3.39 benign 0.003 0.736 0.983 101 NA Interdomain Linker II-III NA Benign 2 0 0 0/388 (Controls:2/>1300); 0/2111 (Controls:2/>1300) NA 0 1 NA NA NA NA NA NA NA 1265 rs199473196 NA NA NA NA -1 non-radical 1
SCN5A 1292 substitution missense c.3751G>A p.V1251M NA *DAMAGING 0 3.4 possibly damaging 0.883 0.108 0.708 21 NA TM Domain 3 TM domain S2 NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 9 NA NA NA NA NA NA NA 1292 rs199473600 NA NA NA NA -1 non-radical 5
SCN5A 17245 substitution essential splice site c.4299+2T>A NA NA NA NA NA NA NA NA TM Domain 3 TM pore segment NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 NA NA NA NA NA NA NA NA 17245 NA NA NA NA -1 radical NA
SCN5A 15549 substitution missense c.5457T>G p.D1819E NA *DAMAGING 0.03 3.4 possibly damaging 0.874 0.11 0.714 45 NA C-terminus NA Benign 0 0 NA NA 0 9 NA NA NA NA NA NA NA 15549 NA NA NA NA -1 non-radical NA
SCN5A 15548 substitution missense c.5457T>A p.D1819E NA *DAMAGING 0.03 3.4 possibly damaging 0.874 0.11 0.714 45 NA C-terminus NA Benign 0 0 NA NA 0 9 NA NA NA NA NA NA NA 15548 NA NA NA NA -1 non-radical NA
SCN5A 1467 substitution missense c.5507T>C p.I1836T NA *DAMAGING 0.02 3.41 possibly damaging 0.547 0.18 0.817 89 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 9 NA 0.00813 (4) 0.00498 8 0.00183 4 NA NA 1467 rs45563942 NA NA NA NA -1 non-radical 5
SCN5A 1476 substitution missense c.5701G>A p.E1901K NA *DAMAGING 0 3.41 probably damaging 1 0 5e-05 56 NA C-terminus IQ domain NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 5 NA NA NA NA NA NA NA 1476 rs199473325 NA NA NA NA -1 non-radical 5
SCN5A 1481 substitution missense c.5755C>T p.R1919C NA *DAMAGING 0 3.52 benign 0.316 0.23 0.859 180 NA C-terminus IQ domain NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 6 NA NA NA NA NA NA NA 1481 rs199473328 NA NA NA NA -1 non-radical 5
SCN5A 1490 substitution missense c.5885C>T p.P1962L NA *DAMAGING 0.01 3.58 benign 0.122 0.301 0.901 98 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 2 NA NA NA NA NA NA NA 1490 rs199473638 NA NA NA NA -1 non-radical 1
SCN5A 1492 substitution missense c.5904C>G p.I1968M NA TOLERATED 0.28 3.58 benign 0.007 0.536 0.968 10 NA C-terminus NA Benign 2 0 0 0/388 (Controls:1/>1300); 0/2111 (Controls:1/>1300) NA 0 1 NA NA NA NA NA NA NA 1492 rs199473333 1 8378 0.99976 4119 -1 non-radical 2
SCN5A 1503 substitution missense c.6017C>T p.P2006L NA TOLERATED 0.17 3.65 benign 0 1 1 98 NA C-terminus NA Benign 2 0 NA NA 0 2 NA NA NA NA NA NA NA 1503 rs199473338 NA NA NA NA -1 non-radical 2
ANK2 17204 substitution missense c.1360G>A p.G454R NA DAMAGING 0 2.02 probably damaging 1 0 5e-05 125 NA Ankyrin domain region ANK 13 NA Benign 0 0 NA NA 0 9 NA NA NA NA NA NA NA 17204 NA NA NA NA -1 non-radical 2
ANK2 9144 substitution missense c.2060A>G p.N687S NA DAMAGING 0.04 2.04 benign 0.154 0.285 0.893 46 NA Ankyrin domain region ANK 20 NA Benign 0 0 NA NA 0 8 NA 0.06000 (11) 0.02385 14 NA NA NA NA 9144 rs29372 0.00035 3 0.00023 1 -1 non-radical 2
ANK2 17205 insertion frameshift c.2151_2152insG NA NA NA NA NA NA NA NA Ankyrin domain region ANK 21 NA Benign 0 0 NA NA 0 NA NA NA NA NA NA NA NA 17205 NA NA NA NA -1 radical NA
ANK2 38 substitution missense c.4216G>T p.G1406C NA DAMAGING 0 2.28 benign 0.397 0.211 0.844 159 NA NA Benign 1 0 NA NA 0 6 NA 0.00044 (2) 0.003634 6 0.00046 1 NA NA 38 rs34591340 0.00035 3 0.00023 1 -1 non-radical 3
ANK2 40 substitution missense c.4645C>T p.R1549W NA DAMAGING 0.02 2.58 benign 0.316 0.23 0.859 101 NA NA Benign 0 0 NA NA 0 2 NA 0.01695 (2) 0.0088457143 34 0.00412 9 NA NA 40 rs35249198 0.00116 10 0.00885 39 -1 non-radical 1
ANK2 17206 deletion frameshift c.5212delC NA NA NA NA NA NA NA NA NA Benign 0 0 NA NA 0 NA NA NA NA NA NA NA NA 17206 NA NA NA NA -1 radical NA
ANK2 42 substitution missense c.5371T>C p.S1791P NA TOLERATED 0.08 2.56 benign 0.001 0.912 0.994 74 NA Repeat-rich region NA Benign 1 0 0 0/514 (Controls:1/200) NA 0 1 NA NA NA NA NA NA NA 42 rs199473344 NA NA NA NA -1 non-radical 2
ANK2 50 substitution missense c.6535G>A p.G2179S NA TOLERATED 0.43 2.7 benign 0.041 0.383 0.933 56 NA NA Benign 0 0 NA NA 0 2 NA 0.08943 (2) 0.04538 206 0.02015 44 NA NA 50 rs61734478 0.00035 3 0.05402 238 -1 non-radical 2
ANK2 52 substitution missense c.6908C>T p.A2303V NA TOLERATED 0.31 2.78 benign 0.002 0.824 0.989 64 NA NA Benign 0 0 NA NA 0 2 NA 0.08740 (2) 0.045348 212 0.01969 43 NA NA 52 rs61734477 0.00081 7 0.0547 241 -1 non-radical 1
ANK2 53 substitution missense c.7007T>C p.V2336A NA TOLERATED 0.78 2.74 benign 0 1 1 64 NA NA Benign 0 0 NA NA 0 2 NA 0.26531 (26) 0.1275211111 1357 0.09707 212 NA NA 53 rs28377576 0.11628 1000 0.18588 819 -1 non-radical 1
ANK2 56 substitution missense c.7168G>A p.A2390T NA TOLERATED 0.34 2.74 benign 0.033 0.4 0.937 58 NA NA Benign 0 0 NA NA 0 2 NA 0.03125 (12) 0.0149833333 43 0.00183 4 NA NA 56 rs3733616 NA NA NA NA -1 non-radical 1
ANK2 57 substitution missense c.7732T>C p.Y2578H NA TOLERATED 0.42 2.85 benign 0.002 0.824 0.989 83 NA NA Benign 0 0 NA NA 0 2 NA 0.02632 (2) 0.00904 28 0.00092 2 NA NA 57 rs35338364 0 0 0.01611 71 -1 non-radical 2
ANK2 58 substitution missense c.7769C>G p.S2590C NA DAMAGING 0.03 2.8 benign 0.436 0.203 0.836 112 NA NA Benign 0 0 NA NA 0 1 NA 0.01695 (2) 0.00616 9 0.00137 3 NA NA 58 rs116253689 0 0 0.00023 1 -1 non-radical 2
ANK2 62 substitution missense c.8404C>T p.P2802S NA TOLERATED 0.68 2.86 benign 0.001 0.912 0.994 74 NA NA Benign 0 0 NA NA 0 1 NA 0.47500 (194) 0.1973223529 2444 0.16804 367 NA NA 62 rs3733617 0.0457 393 0.34249 1509 -1 non-radical 2
ANK2 67 substitution missense c.8962G>A p.A2988T NA TOLERATED 0.46 2.79 benign 0 1 1 58 NA NA Benign 0 0 NA NA 0 3 NA 0.04878 (4) 0.0247375 76 0.01099 24 NA NA 67 rs74348333 0 0 0.01566 69 -1 non-radical 1
ANK2 69 substitution missense c.9755T>C p.I3252T NA DAMAGING 0.05 2.84 probably damaging 0.922 0.0946 0.678 89 NA NA Benign 0 0 NA NA 0 2 NA 0.02100 (6) 0.0098142857 52 0.00321 7 NA NA 69 rs36210417 0.00895 77 0.00272 12 -1 non-radical 3
ANK2 70 substitution missense c.9801C>A p.S3267R NA TOLERATED 0.12 2.93 benign 0.05 0.369 0.928 110 NA NA Benign 0 0 NA NA 0 1 NA 0.08696 (13) 0.029358 191 0.01603 35 NA NA 70 rs34270799 0.03174 273 0.00522 23 -1 non-radical 1
ANK2 85 substitution missense c.11366G>C p.G3789A NA TOLERATED 0.62 2.75 benign 0.001 0.912 0.994 60 NA NA Benign 0 0 NA NA 0 2 NA 0.01695 (2) 0.006765 20 0.00137 3 NA NA 85 rs79577190 0 0 0.00681 30 -1 non-radical 1
ANK2 12188 substitution missense c.11626T>C p.S3876P NA DAMAGING 0.04 3.01 benign 0.4 0.211 0.843 74 NA NA Benign 0 0 NA NA 0 3 NA 0.01016 (5) 0.0045166667 15 0.00229 5 NA NA 12188 rs141124755 0.00012 1 0.00272 12 -1 non-radical 1
KCNE1 164 substitution missense c.115G>A p.D39N NA TOLERATED 0.77 2.82 benign 0.004 0.649 0.977 23 NA N-terminus NA Benign 1 0 NA NA 0 2 NA NA NA NA NA NA NA 164 rs199473352 NA NA NA NA -1 non-radical 2
KCNE1 165 substitution missense p.E43N NA DAMAGING 0.01 3 possibly damaging 0.728 0.145 0.775 42 NA N-terminus NA Benign 1 0 NA NA 0 7 NA NA NA NA NA NA NA 165 NA NA NA NA -1 non-radical 2
KCNE1 169 substitution missense c.155G>C p.G52A NA TOLERATED 0.06 2.78 probably damaging 0.927 0.0927 0.673 60 NA Transmembrane region NA Benign 1 0 NA NA 0 9 NA 0.00862 (1) 0.004975 2 NA NA NA NA 169 rs17173509 NA NA NA NA -1 non-radical 3
KCNE1 178 substitution missense c.206A>G p.K69R NA TOLERATED 0.17 2.78 benign 0.095 0.321 0.91 26 NA C-terminus NA Benign 1 0 NA NA 1 KCNE3(R83H - 9) 9 NA 0.00022 (1) 0.00022 1 NA NA NA NA 178 rs149338401 NA NA NA NA -1 non-radical 2
KCNE1 181 substitution missense c.220T>G p.S74A NA DAMAGING 0.01 2.78 possibly damaging 0.905 0.101 0.693 99 NA C-terminus NA Benign 1 0 NA NA 0 9 NA NA NA NA NA NA NA 181 rs199473357 NA NA NA NA -1 non-radical 3
KCNE1 184 substitution missense c.235A>G p.N79D NA DAMAGING 0.05 2.78 probably damaging 0.956 0.0795 0.633 23 NA C-terminus NA Benign 1 0 NA NA 0 9 NA NA NA NA NA NA NA 184 rs199473358 NA NA NA NA -1 non-radical 2
KCNE2 195 substitution missense c.23C>T p.T8I NA *DAMAGING 0 3.66 probably damaging 0.997 0.0228 0.27 89 NA N-terminus NA Benign 0 0 NA NA 1 KCNE1(T7I - 3) 2 NA 0.01316 (1) 0.0088233333 3 NA NA NA NA 195 rs35759083 NA NA NA NA -1 non-radical 3
KCNE2 208 substitution missense c.197C>T p.A66V NA DAMAGING 0.01 3.04 probably damaging 0.999 0.00759 0.0901 64 NA Transmembrane region NA Benign 1 0 NA NA 0 9 NA 0.00265 (2) 0.00532 4 NA NA NA NA 208 rs16991656 NA NA NA NA -1 non-radical 5
KCNJ2 636 substitution missense c.13C>G p.R5G NA *DAMAGING 0 3.33 probably damaging 0.962 0.0765 0.623 125 NA N-terminus NA Benign 0 0 NA NA 0 3 NA 0.30769 (8) 0.30769 8 NA NA NA NA 636 rs1042485 NA NA NA NA -1 non-radical 3
CACNA1C 94 substitution missense c.143C>A p.A48D NA TOLERATED 0.18 3.19 probably damaging 0.998 0.0152 0.18 126 NA N-terminus NA Benign 0 0 NA NA 0 3 NA 0.05405 (4) 0.05405 4 NA NA NA NA 94 rs61738859 NA NA NA NA -1 non-radical 5
CACNA1C 9224 substitution nonsense c.1140G>A p.W380X NA NA NA NA NA NA NA NA TM domain 1 NA Benign 0 0 NA NA 0 6 NA 0.04000 (7) 0.012955 16 NA NA NA NA 9224 rs1051347 NA NA NA NA -1 radical 1
CACNA1C 107 substitution missense c.2449C>T p.P817S NA TOLERATED 0.67 2.85 benign 0.356 0.22 0.851 74 NA Interdomain Linker II-III NA Benign 0 0 NA NA 0 1 NA 0.01055 (8) 0.0055033333 17 0.00366 8 NA NA 107 rs112532048 0.00468 39 0.00074 3 -1 non-radical 3
CACNA1C 113 substitution missense c.5383G>A p.G1795R NA TOLERATED 0.17 2.96 benign 0.024 0.427 0.946 125 NA C-terminus NA Benign 0 0 NA NA 0 1 NA 0.05691 (6) 0.025222 65 0.01328 29 NA NA 113 rs111298509 0.00024 2 0.0438 176 -1 non-radical 2
CACNA1C 15613 substitution missense c.5665C>T p.R1889C NA TOLERATED 0.18 3.04 benign 0.001 0.912 0.994 180 NA C-terminus NA Benign 0 0 NA NA 0 1 NA 0.02762 (10) 0.0113266667 22 0.00504 11 NA NA 15613 rs185788586 0.00144 12 0.00126 5 -1 non-radical 1
SCN4B 1003 substitution missense c.542T>C p.L181P NA DAMAGING 0.01 1.84 possibly damaging 0.467 0.195 0.83 98 NA Transmembrane region NA Benign 0 0 NA NA 0 3 NA 0.01016 (2) 0.0040125 13 0.00229 5 NA NA 1003 rs61065977 NA NA NA NA -1 non-radical 2
AKAP9 5 substitution missense c.1301G>A p.R434Q NA TOLERATED 0.83 3.19 benign 0.314 0.231 0.859 43 NA NA Benign 0 0 NA NA 0 NA NA 0.11017 (13) 0.036115 143 0.01694 37 NA NA 5 rs60031334 0.00023 2 0.02951 130 -1 non-radical 2
AKAP9 9320 substitution missense c.1389G>T p.M463I NA TOLERATED 0.2 3.18 benign 0.003 0.736 0.983 10 NA NA Benign 0 0 NA NA 0 NA NA 0.50000 (8) 0.3538585 4830 0.35989 786 NA NA 9320 rs6964587 0.40302 3466 0.51363 2261 -1 non-radical 1
AKAP9 12322 substitution missense c.2425A>G p.I809V NA TOLERATED 1 3.26 benign 0.001 0.912 0.994 29 NA NA Benign 0 0 NA NA 0 NA NA 0.01016 (14) 0.00524 24 0.00229 5 NA NA 12322 rs144615758 0.00012 1 0.00726 32 -1 non-radical 1
AKAP9 15658 substitution missense c.3193A>G p.S1065G NA TOLERATED 0.31 3.26 benign 0.004 0.649 0.977 56 NA NA Benign 0 0 NA NA 0 NA NA 0.01049 (6) 0.00662 12 0.00275 6 NA NA 15658 rs185594755 NA NA NA NA -1 non-radical 2
AKAP9 12331 substitution missense c.3827G>A p.R1276Q NA TOLERATED 0.71 3.29 benign 0.001 0.912 0.994 43 NA NA Benign 0 0 NA NA 0 NA NA 0.01923 (40) 0.0095266667 82 0.00962 21 NA NA 12331 rs146797353 0.00886 76 0.00318 14 -1 non-radical 1
AKAP9 2078 insertion inframe c.4003_4004insAAC p.Lys1335_Leu1336insGln NA NA NA NA NA NA NA NA NA Benign 0 0 NA NA 0 NA NA 0.39606 (135) 0.403296 1730 0.39606 865 NA NA 2078 rs10644111 NA NA NA NA -1 radical NA
AKAP9 9322 insertion inframe c.4005_4006insCAA p.Lys1335_Leu1336insGln NA NA NA NA NA NA NA NA NA Benign 0 0 NA NA 0 NA NA 0.50000 (3) 0.5 3 NA NA NA NA 9322 rs111673064 NA NA NA NA -1 radical NA
AKAP9 17207 insertion inframe c.4006_4007insAAC NA NA NA NA NA NA NA NA NA Benign 0 0 NA NA 0 NA NA NA NA NA NA NA NA 17207 NA NA NA NA -1 radical NA
AKAP9 9 substitution missense c.4199T>C p.M1400T NA TOLERATED 0.26 3.29 benign 0 1 1 81 NA NA Benign 0 0 NA NA 0 NA NA 0.27119 (32) 0.091975 418 0.0435 95 NA NA 9 rs73407505 0.00035 3 0.10758 474 -1 non-radical 1
AKAP9 13 substitution missense c.4841G>C p.R1614P NA TOLERATED 0.12 2.86 possibly damaging 0.823 0.124 0.742 103 NA NA Benign 0 0 NA NA 0 NA NA 0.04819 (4) 0.04819 4 NA NA NA NA 13 rs2230768 NA NA NA NA -1 non-radical 1
AKAP9 12347 substitution missense c.4841G>A p.R1614Q NA TOLERATED 0.76 2.86 benign 0.044 0.379 0.931 43 NA NA Benign 0 0 NA NA 0 NA NA 0.02542 (3) 0.012455 58 0.00275 6 NA NA 12347 rs2230768 0 0 0.02497 110 -1 non-radical 1
AKAP9 12362 substitution missense c.6134A>G p.N2045S NA TOLERATED 0.07 2.99 probably damaging 0.986 0.0556 0.541 46 NA NA Benign 0 0 NA NA 0 NA NA 0.01220 (17) 0.00628 29 0.00275 6 NA NA 12362 rs139963188 0 0 0.01135 50 -1 non-radical 2
AKAP9 17 substitution missense c.7451A>G p.K2484R NA TOLERATED 0.64 2.95 benign 0.001 0.912 0.994 26 NA NA Benign 0 0 NA NA 0 NA NA 0.15000 (4) 0.0653058333 715 0.06685 146 NA NA 17 rs35759833 0.12733 1095 0.03041 134 -1 non-radical 1
AKAP9 18 substitution missense c.8375A>G p.N2792S NA TOLERATED 0.48 2.91 benign 0.002 0.824 0.989 46 NA NA Benign 0 0 NA NA 0 NA NA 0.45161 (28) 0.2892330435 3544 0.29624 647 NA NA 18 rs6960867 0.40128 3451 0.26782 1180 -1 non-radical 2
AKAP9 12377 substitution missense c.8485G>A p.E2829K NA TOLERATED 0.06 3 benign 0.288 0.238 0.864 56 NA NA Benign 0 0 NA NA 0 NA NA 0.01626 (12) 0.00754 28 0.00366 8 NA NA 12377 rs149946443 0.00012 1 0.00931 41 -1 non-radical 2
AKAP9 19 substitution missense c.8935C>T p.P2979S NA TOLERATED 1 2.83 benign 0 1 1 74 NA NA Benign 0 0 NA NA 0 NA NA 0.9981955 10386 NA NA NA NA 19 rs1063242 0.99616 8567 0.99977 4405 -1 non-radical 1
AKAP9 20 substitution missense c.9092A>G p.Q3031R NA TOLERATED 0.13 2.83 benign 0.066 0.347 0.921 43 NA NA Benign 0 0 NA NA 0 NA NA 0.02033 (34) 0.0089 56 0.00504 11 NA NA 20 rs61757673 0 0 0.01975 87 -1 non-radical 2
AKAP9 9336 substitution missense c.9929G>A p.R3310Q NA TOLERATED 0.39 2.83 benign 0.001 0.912 0.994 43 NA NA Benign 0 0 NA NA 0 NA NA 0.02542 (3) 0.012015 50 0.00275 6 NA NA 9336 rs78351282 0.00012 1 0.02133 94 -1 non-radical 1
AKAP9 23 substitution missense c.10331A>G p.Q3444R NA DAMAGING 0.02 2.83 benign 0.142 0.291 0.896 43 NA NA Benign 0 0 NA NA 0 NA NA 0.08333 (3) 0.0436483333 119 0.01328 29 NA NA 23 rs34956633 0.00093 8 0.03818 168 -1 non-radical 2
AKAP9 25 substitution missense c.10840A>G p.M3614V NA TOLERATED 1 2.83 benign 0.001 0.912 0.994 21 NA NA Benign 0 0 NA NA 0 NA NA 0.02857 (2) 0.01506 88 0.00962 21 NA NA 25 rs34327395 0.00884 76 0.00999 44 -1 non-radical 1
AKAP9 12405 substitution missense c.10858A>G p.I3620V NA TOLERATED 0.26 2.85 benign 0.013 0.478 0.957 29 NA NA Benign 0 0 NA NA 0 NA NA 0.01626 (17) 0.0078866667 33 0.00366 8 NA NA 12405 rs142729919 0 0 0.01135 50 -1 non-radical 2
AKAP9 26 substitution missense c.11225G>C p.R3742P NA DAMAGING 0 2.83 probably damaging 0.997 0.0228 0.27 103 NA NA Benign 0 0 NA NA 0 NA NA 0.01016 (12) 0.007345 23 0.00229 5 NA NA 26 rs34101758 0 0 0.00658 29 -1 non-radical 2
AKAP9 9343 substitution missense c.11714T>C p.M3905T NA TOLERATED 0.11 3.57 benign 0.003 0.736 0.983 81 NA NA Benign 0 0 NA NA 0 NA NA 0.01667 (2) 0.0084966667 10 0.00183 4 NA NA 9343 rs77447750 NA NA NA NA -1 non-radical 1
SNTA1 9359 substitution missense c.317G>A p.R106Q NA TOLERATED 0.1 2.49 benign 0.031 0.405 0.939 43 NA PH 1 NA Benign 0 0 NA NA 0 NA NA 0.04237 (5) 0.01673 78 0.00595 13 NA NA 9359 rs75025585 NA NA NA NA -1 non-radical 2
KCNJ5 9380 substitution missense c.844C>G p.Q282E NA TOLERATED 1 3.02 benign 0 1 1 29 NA C-terminus NA Benign 0 0 NA NA 0 9 NA 0.9919753846 9411 NA NA NA NA 9380 rs7102584 0.98196 8439 0.99705 4389 -1 non-radical 1