ClinVar Miner

List of variants in gene KCNT1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 647
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.1769+16A>G rs10776844 0.72033
NM_020822.3(KCNT1):c.2243+178G>A rs12379077 0.68433
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_020822.3(KCNT1):c.600+59A>C rs59909130 0.57178
NM_020822.3(KCNT1):c.2008+238A>G rs7856882 0.53015
NM_020822.3(KCNT1):c.2008+215G>A rs7870173 0.52644
NM_020822.3(KCNT1):c.1770-42G>A rs10858172 0.52428
NM_020822.3(KCNT1):c.600+60G>A rs56375931 0.51258
NM_020822.3(KCNT1):c.2008+115G>A rs7870035 0.50212
NM_020822.3(KCNT1):c.434+25C>A rs10122976 0.47340
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_020822.3(KCNT1):c.1510+206A>G rs56034547 0.28101
NM_020822.3(KCNT1):c.2523-294C>A rs10776845 0.26560
NM_020822.3(KCNT1):c.760-139A>G rs10776842 0.25364
NM_020822.3(KCNT1):c.435-257G>C rs7019051 0.25193
NM_020822.3(KCNT1):c.435-67C>T rs12378616 0.24897
NM_020822.3(KCNT1):c.2944-43T>C rs776211997 0.23716
NM_020822.3(KCNT1):c.1036-39A>G rs41298365 0.23410
NM_020822.3(KCNT1):c.1337+29A>G rs10117578 0.23366
NM_020822.3(KCNT1):c.1036-94T>C rs55816769 0.23282
NM_020822.3(KCNT1):c.1036-233C>T rs56382410 0.23250
NM_020822.3(KCNT1):c.1036-207C>T rs56092954 0.23247
NM_020822.3(KCNT1):c.1337+81G>A rs10120407 0.23201
NM_020822.3(KCNT1):c.1200+130T>C rs59741818 0.22879
NM_020822.3(KCNT1):c.2944-35T>C rs1282374128 0.20729
NM_020822.3(KCNT1):c.2243+56G>A rs36100410 0.20457
NM_020822.3(KCNT1):c.600+45T>C rs867704288 0.20396
NM_020822.3(KCNT1):c.2842-69A>C rs10776848 0.20279
NM_020822.3(KCNT1):c.1338-219G>A rs62583551 0.20272
NM_020822.3(KCNT1):c.1510+96A>G rs11103179 0.20132
NM_020822.3(KCNT1):c.2944-31T>C rs1554779906 0.18287
NM_020822.3(KCNT1):c.255-164A>G rs11103161 0.18025
NM_020822.3(KCNT1):c.2944-27T>C rs1554779919 0.17746
NM_020822.3(KCNT1):c.1510+321C>T rs12683761 0.17402
NM_020822.3(KCNT1):c.3503-68T>C rs41299048 0.17316
NM_020822.3(KCNT1):c.1769+67T>G rs56157148 0.17272
NM_020822.3(KCNT1):c.2008+21G>A rs7869884 0.16982
NM_020822.3(KCNT1):c.2944-23T>C rs1371096342 0.16878
NM_020822.3(KCNT1):c.1036-206G>A rs11103174 0.16749
NM_020822.3(KCNT1):c.2243+277A>T rs34257069 0.16749
NM_020822.3(KCNT1):c.2009-222G>A rs56068722 0.16497
NM_020822.3(KCNT1):c.2842-80C>G rs10776847 0.16373
NM_020822.3(KCNT1):c.1401+29G>A rs35127932 0.16214
NM_020822.3(KCNT1):c.1036-170A>G rs55678700 0.16109
NM_020822.3(KCNT1):c.1337+121A>C rs62583545 0.16038
NM_020822.3(KCNT1):c.2729+31A>G rs113887396 0.15705
NM_020822.3(KCNT1):c.3587+63T>C rs41306389 0.14774
NM_020822.3(KCNT1):c.541-225C>T rs66469249 0.14174
NM_020822.3(KCNT1):c.111-263T>G rs11103145 0.13999
NM_020822.3(KCNT1):c.1510+265A>G rs56142950 0.13116
NM_020822.3(KCNT1):c.334+241T>C rs11103163 0.12763
NM_020822.3(KCNT1):c.334+231G>C rs11103162 0.12762
NM_020822.3(KCNT1):c.3587+71C>T rs41310949 0.12701
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_020822.3(KCNT1):c.492-94A>G rs34140289 0.12108
NM_020822.3(KCNT1):c.255-294G>A rs11103160 0.12103
NM_020822.3(KCNT1):c.855-43A>G rs58690674 0.10517
NM_020822.3(KCNT1):c.2349+301G>A rs62584760 0.10310
NM_020822.3(KCNT1):c.1510+307T>C rs56187647 0.09690
NM_020822.3(KCNT1):c.1510+163_1510+202del rs1564368213 0.09493
NM_020822.3(KCNT1):c.600+50A>C rs1002410119 0.07501
NM_020822.3(KCNT1):c.1035+292C>T rs78852596 0.06689
NM_020822.3(KCNT1):c.2944-15T>C rs764828426 0.06643
NM_020822.3(KCNT1):c.600+41A>C rs778697899 0.06634
NM_020822.3(KCNT1):c.1510+163T>C rs11103180 0.05936
NM_020822.3(KCNT1):c.1510+183T>A rs10858171 0.05389
NM_020822.3(KCNT1):c.255-295C>T rs117005981 0.04514
NM_020822.3(KCNT1):c.334+195C>T rs74505140 0.04087
NM_020822.3(KCNT1):c.2349+148A>G rs111494768 0.03687
NM_020822.3(KCNT1):c.2349+59T>C rs78752353 0.03686
NM_020822.3(KCNT1):c.2244-184G>A rs78888390 0.03685
NM_020822.3(KCNT1):c.2244-217T>C rs113226150 0.03685
NM_020822.3(KCNT1):c.2244-327C>T rs76916715 0.03680
NM_020822.3(KCNT1):c.2349+325_2349+326insA rs145386249 0.03667
NM_020822.3(KCNT1):c.1510+251C>T rs56413753 0.03630
NM_020822.3(KCNT1):c.2595-83C>G rs112557482 0.03537
NM_020822.3(KCNT1):c.334+137G>A rs77279734 0.03313
NM_020822.3(KCNT1):c.2244-309T>C rs112366773 0.03117
NM_020822.3(KCNT1):c.540+39T>G rs76918958 0.02942
NM_020822.3(KCNT1):c.434+269G>A rs57969144 0.02914
NM_020822.3(KCNT1):c.2008+114T>C rs150112196 0.02796
NM_020822.3(KCNT1):c.2009-206G>A rs112152062 0.02771
NM_020822.3(KCNT1):c.1619+38C>T rs112428005 0.02687
NM_020822.3(KCNT1):c.2243+172C>T rs113382099 0.02662
NM_020822.3(KCNT1):c.2009-39G>A rs78274769 0.02655
NM_020822.3(KCNT1):c.1036-205G>T rs79954161 0.02564
NM_020822.3(KCNT1):c.1036-160G>T rs112178019 0.02538
NM_020822.3(KCNT1):c.1769+98G>A rs145655663 0.02497
NM_020822.3(KCNT1):c.1200+68A>G rs141793832 0.02463
NM_020822.3(KCNT1):c.1510+270A>G rs60142493 0.02452
NM_020822.3(KCNT1):c.2349+269C>T rs76125418 0.02254
NM_020822.3(KCNT1):c.2349+319C>A rs74694371 0.02158
NM_020822.3(KCNT1):c.2841+212G>A rs7024528 0.02125
NM_020822.3(KCNT1):c.3177+129G>A rs146429987 0.01897
NM_020822.3(KCNT1):c.2350-109A>G rs114229286 0.01790
NM_020822.3(KCNT1):c.1619+45G>A rs116237874 0.01777
NM_020822.3(KCNT1):c.110+222A>G rs74827913 0.01726
NM_020822.3(KCNT1):c.*59G>T rs7854698 0.01713
NM_020822.3(KCNT1):c.2944-11T>C rs753324261 0.01620
NM_020822.3(KCNT1):c.1338-56G>A rs77818758 0.01599
NM_020822.3(KCNT1):c.1337+198T>C rs10118323 0.01511
NM_020822.3(KCNT1):c.110+38C>T rs373341130 0.01502
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_020822.3(KCNT1):c.*63G>A rs111674561 0.01391
NM_020822.3(KCNT1):c.3177+67A>T rs111386077 0.01391
NM_020822.3(KCNT1):c.492-117A>G rs140166868 0.01373
NM_020822.3(KCNT1):c.255-283C>T rs61272561 0.01318
NM_020822.3(KCNT1):c.1036-168C>G rs114063333 0.01305
NM_020822.3(KCNT1):c.760-138C>T rs11103170 0.01285
NM_020822.3(KCNT1):c.255-240G>A rs148507109 0.01191
NM_020822.3(KCNT1):c.760-231G>A rs10858165 0.01137
NM_020822.3(KCNT1):c.111-96G>C rs997287082 0.01063
NM_020822.3(KCNT1):c.1510+80C>T rs188246311 0.00960
NM_020822.3(KCNT1):c.1770-34G>T rs148022360 0.00954
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_020822.3(KCNT1):c.2730-247A>C rs183640159 0.00917
NM_020822.3(KCNT1):c.2523-123C>T rs12002912 0.00910
NM_020822.3(KCNT1):c.2243+230G>A rs78110941 0.00884
NM_020822.3(KCNT1):c.2350-189G>A rs369543918 0.00873
NM_020822.3(KCNT1):c.2944-75C>T rs192706978 0.00828
NM_020822.3(KCNT1):c.760-294G>A rs114615738 0.00814
NM_020822.3(KCNT1):c.2243+128A>G rs189299061 0.00756
NM_020822.3(KCNT1):c.3503-67G>A rs139315777 0.00756
NM_020822.3(KCNT1):c.601-47A>C rs777413888 0.00675
NM_020822.3(KCNT1):c.2523-99C>A rs146087255 0.00575
NM_020822.3(KCNT1):c.335-183A>G rs58746805 0.00543
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_020822.3(KCNT1):c.1338-155T>C rs189533364 0.00475
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_020822.3(KCNT1):c.2522+200A>C rs537252738 0.00470
NM_020822.3(KCNT1):c.254+65G>A rs546006344 0.00468
NM_020822.3(KCNT1):c.110+154G>A rs188210338 0.00463
NM_020822.3(KCNT1):c.2243+328G>A rs118000596 0.00456
NM_020822.3(KCNT1):c.2841+250C>T rs75999688 0.00443
NM_020822.3(KCNT1):c.434+250C>T rs76915698 0.00412
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_020822.3(KCNT1):c.2842-36G>A rs142114198 0.00399
NM_020822.3(KCNT1):c.1200+94C>A rs144489544 0.00396
NM_020822.3(KCNT1):c.1338-169C>T rs150343102 0.00392
NM_020822.3(KCNT1):c.3177+149C>A rs569868261 0.00367
NM_020822.3(KCNT1):c.1201-49G>T rs115401402 0.00359
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00243
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745 0.00185
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_020822.3(KCNT1):c.435-17G>A rs140115987 0.00140
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458 0.00122
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00098
NM_020822.3(KCNT1):c.2350-8G>A rs371678685 0.00096
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299 0.00090
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824 0.00081
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_020822.3(KCNT1):c.3503-18C>T rs373901872 0.00068
NM_020822.3(KCNT1):c.601-13C>G rs202113794 0.00068
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_020822.3(KCNT1):c.3028-14T>G rs539727852 0.00050
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00048
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713 0.00047
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559 0.00041
NM_020822.3(KCNT1):c.-1C>A rs149383208 0.00039
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302 0.00034
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=) rs142642528 0.00034
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198 0.00034
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086 0.00033
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353 0.00032
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000 0.00032
NM_020822.3(KCNT1):c.1338-3C>T rs369562243 0.00031
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=) rs144068763 0.00028
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445 0.00027
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010 0.00027
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00026
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399 0.00025
NM_020822.3(KCNT1):c.1511-4G>A rs368480443 0.00024
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090 0.00024
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494 0.00023
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 0.00021
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618 0.00021
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058 0.00020
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00019
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797 0.00016
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=) rs376167145 0.00016
NM_020822.3(KCNT1):c.2350-10C>T rs367855961 0.00015
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00015
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768 0.00014
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782 0.00014
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534 0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614 0.00014
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019 0.00012
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) rs372491855 0.00012
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108 0.00012
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322 0.00012
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100 0.00012
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00011
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298 0.00011
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472 0.00010
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738 0.00010
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850 0.00009
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.2008+10G>C rs752453368 0.00009
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779 0.00009
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138 0.00009
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn) rs376758763 0.00009
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695 0.00009
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299 0.00008
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448 0.00008
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589 0.00008
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=) rs371632359 0.00008
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150 0.00008
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=) rs758308334 0.00008
NM_020822.3(KCNT1):c.1036-12T>G rs113079797 0.00007
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553 0.00007
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992 0.00007
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266 0.00007
NM_020822.3(KCNT1):c.1769+8C>T rs371287985 0.00007
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404 0.00007
NM_020822.3(KCNT1):c.435-12G>C rs367739886 0.00007
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509 0.00007
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys) rs568539413 0.00007
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551 0.00006
NM_020822.3(KCNT1):c.1201-6C>T rs543464639 0.00006
NM_020822.3(KCNT1):c.1326C>A (p.Leu442=) rs200910140 0.00006
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu) rs201908490 0.00006
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341 0.00006
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085 0.00006
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469 0.00006
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326 0.00006
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151 0.00006
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876 0.00006
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 0.00006
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00006
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415 0.00006
NM_020822.3(KCNT1):c.1337+7G>A rs374975940 0.00005
NM_020822.3(KCNT1):c.1402-5G>A rs573411729 0.00005
NM_020822.3(KCNT1):c.1402-6C>T rs755796820 0.00005
NM_020822.3(KCNT1):c.1510+4C>T rs554828530 0.00005
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 0.00005
NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile) rs143015526 0.00005
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341 0.00004
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110 0.00004
NM_020822.3(KCNT1):c.1497C>T (p.His499=) rs754670800 0.00004
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173 0.00004
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687 0.00004
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985 0.00004
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681 0.00004
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=) rs148928475 0.00004
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960 0.00004
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu) rs775923151 0.00004
NM_020822.3(KCNT1):c.2281G>A (p.Gly761Ser) rs761987610 0.00004
NM_020822.3(KCNT1):c.231C>T (p.Asp77=) rs370998066 0.00004
NM_020822.3(KCNT1):c.2594+7C>T rs545094921 0.00004
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=) rs369519989 0.00004
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) rs760151844 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=) rs757210594 0.00004
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=) rs761504279 0.00004
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met) rs370090905 0.00004
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121 0.00004
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285 0.00003
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376 0.00003
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020822.3(KCNT1):c.2076C>T (p.Gly692=) rs1267885761 0.00003
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=) rs767200583 0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_020822.3(KCNT1):c.600+9C>T rs1287458024 0.00003
NM_020822.3(KCNT1):c.60G>A (p.Gly20=) rs777349172 0.00003
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063 0.00003
NM_020822.3(KCNT1):c.732G>A (p.Leu244=) rs759580596 0.00003
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951 0.00003
NM_020822.3(KCNT1):c.1036-7C>T rs774394132 0.00002
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859 0.00002
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195 0.00002
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607 0.00002
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr) rs144421853 0.00002
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=) rs376892911 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=) rs1208098376 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val) rs536588045 0.00002
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg) rs769596439 0.00002
NM_020822.3(KCNT1):c.2350-13C>T rs374333732 0.00002
NM_020822.3(KCNT1):c.254+10G>C rs772892562 0.00002
NM_020822.3(KCNT1):c.2595-8G>A rs779012524 0.00002
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=) rs776550763 0.00002
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987 0.00002
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His) rs776239808 0.00002
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 0.00002
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His) rs756256138 0.00002
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103 0.00002
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) rs763400879 0.00002
NM_020822.3(KCNT1):c.3377G>A (p.Arg1126Gln) rs769135500 0.00002
NM_020822.3(KCNT1):c.3409C>T (p.Arg1137Cys) rs779430817 0.00002
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936 0.00002
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=) rs747685419 0.00002
NM_020822.3(KCNT1):c.958G>A (p.Val320Ile) rs773718324 0.00002
NM_020822.3(KCNT1):c.*11C>T rs779464233 0.00001
NM_020822.3(KCNT1):c.-40C>T rs908377945 0.00001
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381 0.00001
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) rs368174673 0.00001
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys) rs781342838 0.00001
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141 0.00001
NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=) rs375585422 0.00001
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile) rs778483249 0.00001
NM_020822.3(KCNT1):c.1511-5C>T rs546333402 0.00001
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met) rs905524850 0.00001
NM_020822.3(KCNT1):c.1521G>A (p.Val507=) rs759337224 0.00001
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501 0.00001
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile) rs753874335 0.00001
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571 0.00001
NM_020822.3(KCNT1):c.1627C>T (p.Gln543Ter) rs1479237463 0.00001
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306 0.00001
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) rs781375160 0.00001
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser) rs1220099278 0.00001
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) rs763438119 0.00001
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp) rs779639843 0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) rs770039542 0.00001
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154 0.00001
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140 0.00001
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573 0.00001
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His) rs1411700632 0.00001
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870 0.00001
NM_020822.3(KCNT1):c.2061C>T (p.Gly687=) rs748229745 0.00001
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) rs538197009 0.00001
NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile) rs945869943 0.00001
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023 0.00001
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758 0.00001
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889 0.00001
NM_020822.3(KCNT1):c.2244-10C>T rs758069398 0.00001
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995 0.00001
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr) rs1466772062 0.00001
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=) rs559452456 0.00001
NM_020822.3(KCNT1):c.2421A>G (p.Ala807=) rs765974520 0.00001
NM_020822.3(KCNT1):c.2431G>A (p.Gly811Ser) rs748756591 0.00001
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His) rs747191095 0.00001
NM_020822.3(KCNT1):c.2523-13G>A rs770824523 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) rs776233220 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys) rs150395210 0.00001
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951 0.00001
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=) rs751965012 0.00001
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142 0.00001
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735 0.00001
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=) rs747248633 0.00001
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) rs1554780631 0.00001
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met) rs771889785 0.00001
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=) rs768977873 0.00001
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp) rs1588309625 0.00001
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val) rs1834554393 0.00001
NM_020822.3(KCNT1):c.3517C>T (p.His1173Tyr) rs1450163574 0.00001
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396 0.00001
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr) rs759561558 0.00001
NM_020822.3(KCNT1):c.3618C>T (p.His1206=) rs577378740 0.00001
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337 0.00001
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln) rs868847760 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316 0.00001
NM_020822.3(KCNT1):c.398G>A (p.Arg133His) rs201295824 0.00001
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser) rs750374521 0.00001
NM_020822.3(KCNT1):c.453G>C (p.Gln151His) rs1831337399 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 0.00001
NM_020822.3(KCNT1):c.687G>A (p.Pro229=) rs748796809 0.00001
NM_020822.3(KCNT1):c.765C>T (p.Asp255=) rs1167927802 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_020822.3(KCNT1):c.861C>T (p.Cys287=) rs750884338 0.00001
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191 0.00001
NM_020822.3(KCNT1):c.1033C>A (p.Gln345Lys) rs1131691442
NM_020822.3(KCNT1):c.1036-243G>A rs77728351
NM_020822.3(KCNT1):c.1036-3C>T
NM_020822.3(KCNT1):c.1061T>G (p.Met354Arg) rs1057522923
NM_020822.3(KCNT1):c.1065G>A (p.Glu355=) rs1832162751
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.110+2523C>T
NM_020822.3(KCNT1):c.110+57dup rs5901089
NM_020822.3(KCNT1):c.110+77C>T rs544572817
NM_020822.3(KCNT1):c.1136G>T (p.Ser379Ile)
NM_020822.3(KCNT1):c.1147A>G (p.Ile383Val)
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu) rs1832174053
NM_020822.3(KCNT1):c.1183G>A (p.Ala395Thr) rs1832174592
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr) rs1588343193
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1198C>G (p.Gln400Glu)
NM_020822.3(KCNT1):c.1200+177_1200+196del rs60237528
NM_020822.3(KCNT1):c.1223G>A (p.Cys408Tyr)
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu) rs1064794752
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val) rs988871689
NM_020822.3(KCNT1):c.123G>C (p.Ala41=) rs1352859989
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys) rs886043301
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser) rs1440098446
NM_020822.3(KCNT1):c.1282C>A (p.Arg428=) rs373755663
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp) rs373755663
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
NM_020822.3(KCNT1):c.1306G>C (p.Ala436Pro) rs1832220041
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1311C>T (p.Leu437=)
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1337+310_1337+323del rs34698704
NM_020822.3(KCNT1):c.1338-187CCCGCCTTCCATCCTC[3] rs539267974
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1391G>A (p.Arg464His)
NM_020822.3(KCNT1):c.1401+3G>T rs1564367303
NM_020822.3(KCNT1):c.1402-64C>T rs57788375
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser) rs866242631
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1426T>C (p.Trp476Arg) rs886039397
NM_020822.3(KCNT1):c.1488_1490del (p.Asn496del) rs2131498089
NM_020822.3(KCNT1):c.1496A>G (p.His499Arg) rs1554774362
NM_020822.3(KCNT1):c.1510+183_1510+222del rs1564368224
NM_020822.3(KCNT1):c.1510+206_1510+245del rs778034391
NM_020822.3(KCNT1):c.1510+320_1510+321insTGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGG rs796303991
NM_020822.3(KCNT1):c.1511-12C>A rs549024643
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1566C>T (p.Ile522=) rs1268230616
NM_020822.3(KCNT1):c.1607C>T (p.Thr536Met) rs1430492627
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1620-10_1620-5dup rs754045989
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020822.3(KCNT1):c.1626del (p.Gln543fs)
NM_020822.3(KCNT1):c.162G>A (p.Met54Ile) rs2131329345
NM_020822.3(KCNT1):c.1651C>T (p.Arg551Cys) rs749316999
NM_020822.3(KCNT1):c.1652G>T (p.Arg551Leu) rs567764094
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val) rs1832669452
NM_020822.3(KCNT1):c.1720del (p.Glu574fs) rs1131691382
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly) rs1588255313
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.1769+172G>T rs10735240
NM_020822.3(KCNT1):c.1770-116C>A rs143609496
NM_020822.3(KCNT1):c.1770-20T>C rs1239661382
NM_020822.3(KCNT1):c.1779G>A (p.Val593=) rs748744989
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del) rs752708934
NM_020822.3(KCNT1):c.1840C>T (p.His614Tyr) rs1554775058
NM_020822.3(KCNT1):c.1858G>A (p.Asp620Asn)
NM_020822.3(KCNT1):c.1877A>T (p.Asn626Ile)
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1911C>G (p.Phe637Leu) rs759819281
NM_020822.3(KCNT1):c.1921G>A (p.Glu641Lys) rs1564371427
NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)
NM_020822.3(KCNT1):c.1969C>G (p.Pro657Ala) rs763051647
NM_020822.3(KCNT1):c.1997T>C (p.Ile666Thr) rs2131512046
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2116C>T (p.Arg706Trp)
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr) rs892635002
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=) rs752522838
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=) rs758589013
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2172C>G (p.Pro724=) rs1354699667
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.2188G>C (p.Asp730His)
NM_020822.3(KCNT1):c.2197G>A (p.Glu733Lys)
NM_020822.3(KCNT1):c.2206G>A (p.Val736Met)
NM_020822.3(KCNT1):c.2246A>G (p.Tyr749Cys)
NM_020822.3(KCNT1):c.2278A>T (p.Ile760Phe) rs1064795013
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=) rs370521183
NM_020822.3(KCNT1):c.2317A>G (p.Lys773Glu)
NM_020822.3(KCNT1):c.2349+326G>T rs530593370
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2350-153dup rs142376642
NM_020822.3(KCNT1):c.2350-24_2350-13del rs374463149
NM_020822.3(KCNT1):c.2389_2390insTAG (p.Tyr796_Gly797insVal) rs2131543497
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=) rs142726010
NM_020822.3(KCNT1):c.2442G>A (p.Leu814=)
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2468C>T (p.Ala823Val) rs1833247433
NM_020822.3(KCNT1):c.2470T>C (p.Tyr824His)
NM_020822.3(KCNT1):c.2485A>G (p.Lys829Glu) rs2131543999
NM_020822.3(KCNT1):c.2522+205_2522+233del rs1327377921
NM_020822.3(KCNT1):c.2523-3C>T rs2131548258
NM_020822.3(KCNT1):c.2523-4A>G
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
NM_020822.3(KCNT1):c.254+41C>T rs186935207
NM_020822.3(KCNT1):c.255-13418C>A
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile) rs1172819191
NM_020822.3(KCNT1):c.2605C>G (p.Leu869Val) rs1564382343
NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
NM_020822.3(KCNT1):c.2641G>T (p.Val881Leu) rs1564382426
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2677G>A (p.Glu893Lys) rs1554778082
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2688G>C (p.Met896Ile) rs797044544
NM_020822.3(KCNT1):c.2730-164_2730-98del rs1564383338
NM_020822.3(KCNT1):c.2742C>T (p.Ser914=)
NM_020822.3(KCNT1):c.2770_2771delinsG (p.Pro924fs) rs1554778336
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.280G>A (p.Glu94Lys)
NM_020822.3(KCNT1):c.2841+109G>T rs880929
NM_020822.3(KCNT1):c.2841+139G>A rs58398986
NM_020822.3(KCNT1):c.2841+309G>A rs189013619
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2861C>T (p.Ser954Phe)
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.2913C>T (p.Ser971=) rs1340916778
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=) rs1554779778
NM_020822.3(KCNT1):c.2944-142TG[6] rs532449273
NM_020822.3(KCNT1):c.2944-17_2944-6del rs2131574070
NM_020822.3(KCNT1):c.2944-39T>C rs1446961512
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[6] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[7] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.2944T>C (p.Ser982Pro) rs1057523641
NM_020822.3(KCNT1):c.2957_2958insT (p.Tyr987fs) rs886042435
NM_020822.3(KCNT1):c.2977C>A (p.Arg993=) rs368252006
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) rs1831067002
NM_020822.3(KCNT1):c.3002C>A (p.Thr1001Lys) rs372775166
NM_020822.3(KCNT1):c.3027+12T>C rs886043446
NM_020822.3(KCNT1):c.3042G>A (p.Glu1014=) rs1833910075
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3060C>T (p.Arg1020=)
NM_020822.3(KCNT1):c.3120C>T (p.Ile1040=) rs866628924
NM_020822.3(KCNT1):c.3156+8G>A rs764262230
NM_020822.3(KCNT1):c.3177+80CCCA[4] rs761239589
NM_020822.3(KCNT1):c.3178-10_3178-1dup rs748283635
NM_020822.3(KCNT1):c.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[3] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[5] rs757968008
NM_020822.3(KCNT1):c.3178-5C>T rs753073468
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu) rs1161728281
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3236G>A (p.Trp1079Ter)
NM_020822.3(KCNT1):c.323A>C (p.Asn108Thr)
NM_020822.3(KCNT1):c.3279C>T (p.His1093=)
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.32G>C (p.Gly11Ala)
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp) rs542409033
NM_020822.3(KCNT1):c.3317G>C (p.Arg1106Pro) rs561255614
NM_020822.3(KCNT1):c.334+153G>A rs58063887
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
NM_020822.3(KCNT1):c.3417C>A (p.Ser1139Arg)
NM_020822.3(KCNT1):c.3425G>C (p.Arg1142Pro)
NM_020822.3(KCNT1):c.3436C>T (p.Arg1146Cys) rs1471022566
NM_020822.3(KCNT1):c.3439dup (p.Gln1147fs)
NM_020822.3(KCNT1):c.3442G>A (p.Glu1148Lys)
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val) rs1834060931
NM_020822.3(KCNT1):c.3467G>A (p.Arg1156His) rs867696317
NM_020822.3(KCNT1):c.3471G>A (p.Met1157Ile) rs1085307807
NM_020822.3(KCNT1):c.3502+1617C>G rs1588412829
NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup) rs1290067674
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His) rs142875411
NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys) rs1831125430
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
NM_020822.3(KCNT1):c.3584T>C (p.Ile1195Thr) rs777322392
NM_020822.3(KCNT1):c.3587+36dup rs11430171
NM_020822.3(KCNT1):c.3587+3G>A rs1588422718
NM_020822.3(KCNT1):c.3600C>A (p.Arg1200=)
NM_020822.3(KCNT1):c.3623C>T (p.Ala1208Val)
NM_020822.3(KCNT1):c.3629G>A (p.Ser1210Asn) rs1834581421
NM_020822.3(KCNT1):c.3641G>C (p.Arg1214Pro)
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr) rs758465935
NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
NM_020822.3(KCNT1):c.3697A>G (p.Thr1233Ala) rs767191241
NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs) rs1834589533
NM_020822.3(KCNT1):c.376A>G (p.Thr126Ala)
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val) rs1402206752
NM_020822.3(KCNT1):c.434+1G>T rs2131411525
NM_020822.3(KCNT1):c.43C>A (p.Arg15=)
NM_020822.3(KCNT1):c.492-86C>T rs4842032
NM_020822.3(KCNT1):c.510G>A (p.Val170=) rs1588317755
NM_020822.3(KCNT1):c.534G>C (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.564C>T (p.Phe188=) rs1588321872
NM_020822.3(KCNT1):c.572C>G (p.Thr191Arg) rs1429039180
NM_020822.3(KCNT1):c.592A>G (p.Ser198Gly) rs2131434975
NM_020822.3(KCNT1):c.600+51C>G rs13286338
NM_020822.3(KCNT1):c.600+51_600+59del rs141511626
NM_020822.3(KCNT1):c.600+60G>C rs56375931
NM_020822.3(KCNT1):c.600+69A>C rs1208250201
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.601-13C>T rs202113794
NM_020822.3(KCNT1):c.643G>C (p.Glu215Gln)
NM_020822.3(KCNT1):c.670A>G (p.Ile224Val) rs1554770959
NM_020822.3(KCNT1):c.673A>G (p.Thr225Ala) rs1554770961
NM_020822.3(KCNT1):c.675+4G>C rs794727929
NM_020822.3(KCNT1):c.760-110_760-109insACAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGTAGGCTGCCCCGTGGGCCTCAGCCGAGAC rs1564353885
NM_020822.3(KCNT1):c.760-189_760-98del rs1564353623
NM_020822.3(KCNT1):c.760-253C>G rs878995084
NM_020822.3(KCNT1):c.760-266del rs142182654
NM_020822.3(KCNT1):c.780C>G (p.Ile260Met) rs1831666807
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.79T>G (p.Phe27Val)
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020822.3(KCNT1):c.808C>G (p.Gln270Glu) rs1554771476
NM_020822.3(KCNT1):c.811G>T (p.Val271Phe) rs1831669014
NM_020822.3(KCNT1):c.820C>G (p.Leu274Val)
NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu) rs1554760875
NM_020822.3(KCNT1):c.841C>A (p.Leu281Ile) rs1057522914
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe) rs1057522914
NM_020822.3(KCNT1):c.855-10G>A rs1057521940
NM_020822.3(KCNT1):c.855-280del rs35933412
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020822.3(KCNT1):c.880C>G (p.Arg294Gly)
NM_020822.3(KCNT1):c.940A>G (p.Thr314Ala)
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) rs978227077
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu) rs777106178
Single allele

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