ClinVar Miner

List of variants in gene KCNT1 studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1843
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.1769+16A>G rs10776844 0.72033
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.600+60G>A rs56375931 0.51258
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.254+20T>C rs2385007 0.27844
NM_020822.3(KCNT1):c.1200+12T>G rs58604946 0.23256
NM_020822.3(KCNT1):c.2008+21G>A rs7869884 0.16982
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_020822.3(KCNT1):c.1036-15G>A rs112341167 0.02567
NM_020822.3(KCNT1):c.3502+16G>A rs112116686 0.01447
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) rs116691849 0.00907
NM_020822.3(KCNT1):c.2729+9A>G rs12005420 0.00858
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_020822.3(KCNT1):c.30G>A (p.Pro10=) rs139034501 0.00419
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
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.985C>T (p.Leu329=) rs147165522 0.00093
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.854+10G>A rs146470183 0.00087
NM_020822.3(KCNT1):c.2842-15C>T rs372262576 0.00083
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.1619+18C>T rs183348093 0.00074
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.1770-16C>T rs192658955 0.00059
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
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.3502+12C>T rs367727105 0.00043
NM_020822.3(KCNT1):c.760-19G>A rs375929015 0.00043
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.2008+7C>T rs372707698 0.00030
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
NM_020822.3(KCNT1):c.334+10G>A rs185209587 0.00029
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.3496G>A (p.Gly1166Ser) rs1201438079 0.00026
NM_020822.3(KCNT1):c.467A>G (p.Asn156Ser) rs200632957 0.00026
NM_020822.3(KCNT1):c.759+13G>A rs375237065 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.3162C>T (p.His1054=) rs146272510 0.00024
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090 0.00024
NM_020822.3(KCNT1):c.3502+18G>A rs374991913 0.00024
NM_020822.3(KCNT1):c.1620-16C>G rs369334561 0.00023
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494 0.00023
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) rs540422455 0.00021
NM_020822.3(KCNT1):c.1620-17C>T rs376069264 0.00021
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 0.00021
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144 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.3027+18C>T rs369541323 0.00019
NM_020822.3(KCNT1):c.3178-16G>T rs55906268 0.00019
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.637G>A (p.Val213Ile) rs143536408 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_020822.3(KCNT1):c.2008+19G>A rs369119562 0.00016
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=) rs766746716 0.00016
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.585C>T (p.Ile195=) rs148910448 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.1852G>A (p.Ala618Thr) rs756996609 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.708C>T (p.Ile236=) rs148038658 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.1827C>T (p.Asn609=) rs142534422 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.1152C>T (p.Asp384=) rs763854215 0.00011
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=) rs745575483 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.2898C>T (p.Ala966=) rs762968242 0.00011
NM_020822.3(KCNT1):c.1337+16C>T rs369329858 0.00010
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.601-12G>A rs765238793 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.2349+11C>T rs374140862 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.1323C>T (p.Asp441=) rs368477306 0.00008
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.2730-15G>A rs539244041 0.00008
NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=) rs760974671 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.434+10G>A rs187872786 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.1770-15G>A rs746828967 0.00007
NM_020822.3(KCNT1):c.2482C>T (p.Arg828Cys) rs370800291 0.00007
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362 0.00007
NM_020822.3(KCNT1):c.2944-17C>T rs1255015458 0.00007
NM_020822.3(KCNT1):c.335-16G>A rs151217665 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.851C>T (p.Thr284Met) rs376583438 0.00007
NM_020822.3(KCNT1):c.854+9C>T rs370686981 0.00007
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551 0.00006
NM_020822.3(KCNT1):c.1200+15C>T rs138631641 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.2152G>A (p.Asp718Asn) rs777958749 0.00006
NM_020822.3(KCNT1):c.2630C>T (p.Ala877Val) rs774033346 0.00006
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=) rs765403435 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.279C>T (p.Asn93=) rs183022730 0.00006
NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=) rs368875875 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.3341G>A (p.Arg1114Gln) rs758311066 0.00006
NM_020822.3(KCNT1):c.335-4G>A rs372339395 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.3669G>C (p.Ser1223=) rs556454353 0.00006
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737 0.00006
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val) rs368870705 0.00006
NM_020822.3(KCNT1):c.744G>A (p.Ala248=) rs145697148 0.00006
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415 0.00006
NM_020822.3(KCNT1):c.1035+17C>T rs375391930 0.00005
NM_020822.3(KCNT1):c.110+1G>C rs780331569 0.00005
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.1689C>T (p.His563=) rs765616016 0.00005
NM_020822.3(KCNT1):c.2008+20C>T rs371649094 0.00005
NM_020822.3(KCNT1):c.2349+12G>A rs769180254 0.00005
NM_020822.3(KCNT1):c.2841+11C>T rs901557898 0.00005
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239 0.00005
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518 0.00005
NM_020822.3(KCNT1):c.335-5C>T rs745658927 0.00005
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.3502+17C>T rs767500906 0.00005
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp) rs150447764 0.00005
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 0.00005
NM_020822.3(KCNT1):c.676-4A>G rs780921786 0.00005
NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile) rs143015526 0.00005
NM_020822.3(KCNT1):c.1047C>T (p.Leu349=) rs370414453 0.00004
NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=) rs973806258 0.00004
NM_020822.3(KCNT1):c.110+11del rs1464834508 0.00004
NM_020822.3(KCNT1):c.110+12T>G rs1186799198 0.00004
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.1201-5G>A rs766093946 0.00004
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=) rs373948466 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.1620-14G>A rs754311028 0.00004
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687 0.00004
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe) rs950983477 0.00004
NM_020822.3(KCNT1):c.1833G>A (p.Gly611=) rs755787639 0.00004
NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu) rs747671066 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.2008+18C>T rs370292952 0.00004
NM_020822.3(KCNT1):c.2008+8G>A rs759334176 0.00004
NM_020822.3(KCNT1):c.2009-18C>T rs1457591989 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.231C>T (p.Asp77=) rs370998066 0.00004
NM_020822.3(KCNT1):c.2388C>T (p.Tyr796=) rs530678159 0.00004
NM_020822.3(KCNT1):c.2523-6C>T rs992509278 0.00004
NM_020822.3(KCNT1):c.2594+17C>T rs370941241 0.00004
NM_020822.3(KCNT1):c.2594+18G>A rs374664484 0.00004
NM_020822.3(KCNT1):c.2594+7C>T rs545094921 0.00004
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) rs775752475 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=) rs369519989 0.00004
NM_020822.3(KCNT1):c.2943+7G>A rs375869783 0.00004
NM_020822.3(KCNT1):c.2944-18C>G rs1361654206 0.00004
NM_020822.3(KCNT1):c.3006G>A (p.Pro1002=) rs377162900 0.00004
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_020822.3(KCNT1):c.3111C>T (p.Pro1037=) rs778321915 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn) rs537379253 0.00004
NM_020822.3(KCNT1):c.3240C>T (p.Gly1080=) rs766038759 0.00004
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) rs760151844 0.00004
NM_020822.3(KCNT1):c.3285C>T (p.Gly1095=) rs778877333 0.00004
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) rs748115007 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.3381G>A (p.Ala1127=) rs762220012 0.00004
NM_020822.3(KCNT1):c.3384G>A (p.Ala1128=) rs760868141 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.3505G>A (p.Glu1169Lys) rs768746178 0.00004
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met) rs370090905 0.00004
NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg) rs142340167 0.00004
NM_020822.3(KCNT1):c.3588-4G>A rs754639389 0.00004
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121 0.00004
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu) rs753714293 0.00004
NM_020822.3(KCNT1):c.601-20T>C rs774722496 0.00004
NM_020822.3(KCNT1):c.690G>A (p.Pro230=) rs565506288 0.00004
NM_020822.3(KCNT1):c.759+7C>T rs779833209 0.00004
NM_020822.3(KCNT1):c.111-8G>A rs779128853 0.00003
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.1122G>T (p.Val374=) rs774643792 0.00003
NM_020822.3(KCNT1):c.1188C>T (p.His396=) rs544796091 0.00003
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285 0.00003
NM_020822.3(KCNT1):c.1338-4G>A rs963826986 0.00003
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376 0.00003
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828 0.00003
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=) rs765534465 0.00003
NM_020822.3(KCNT1):c.1593C>T (p.Thr531=) rs749641549 0.00003
NM_020822.3(KCNT1):c.1620-15C>T rs766797836 0.00003
NM_020822.3(KCNT1):c.1623G>A (p.Glu541=) rs758644634 0.00003
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306 0.00003
NM_020822.3(KCNT1):c.1677C>T (p.Asn559=) rs1028802868 0.00003
NM_020822.3(KCNT1):c.1680G>A (p.Glu560=) rs143983055 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=) rs1060505001 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2076C>T (p.Gly692=) rs1267885761 0.00003
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=) rs762620377 0.00003
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=) rs767200583 0.00003
NM_020822.3(KCNT1):c.2117G>A (p.Arg706Gln) rs761289867 0.00003
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp) rs568144711 0.00003
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) rs1367605908 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn) rs375403065 0.00003
NM_020822.3(KCNT1):c.2224G>A (p.Glu742Lys) rs749302270 0.00003
NM_020822.3(KCNT1):c.2271G>A (p.Ser757=) rs374981764 0.00003
NM_020822.3(KCNT1):c.233C>T (p.Pro78Leu) rs771096934 0.00003
NM_020822.3(KCNT1):c.237C>T (p.Ser79=) rs749179872 0.00003
NM_020822.3(KCNT1):c.2526C>T (p.Pro842=) rs776258175 0.00003
NM_020822.3(KCNT1):c.2706C>T (p.Ile902=) rs934780855 0.00003
NM_020822.3(KCNT1):c.2729+16G>A rs373773787 0.00003
NM_020822.3(KCNT1):c.2729+19G>A rs369987473 0.00003
NM_020822.3(KCNT1):c.2841+18G>A rs763792397 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.3157-17G>A rs753593622 0.00003
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=) rs948170691 0.00003
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695 0.00003
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His) rs369576806 0.00003
NM_020822.3(KCNT1):c.3297C>T (p.Pro1099=) rs759060691 0.00003
NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg) rs775015763 0.00003
NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His) rs568818508 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534 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.880C>T (p.Arg294Trp) rs369101729 0.00003
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.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=) rs777409717 0.00002
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val) rs928555901 0.00002
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440 0.00002
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp) rs779209462 0.00002
NM_020822.3(KCNT1):c.1201-13G>A rs576149390 0.00002
NM_020822.3(KCNT1):c.1201-14C>T rs767283074 0.00002
NM_020822.3(KCNT1):c.1230G>A (p.Thr410=) rs778178642 0.00002
NM_020822.3(KCNT1):c.1328T>C (p.Met443Thr) rs763557773 0.00002
NM_020822.3(KCNT1):c.1359C>T (p.Cys453=) rs1455107112 0.00002
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile) rs368322298 0.00002
NM_020822.3(KCNT1):c.147C>T (p.Thr49=) rs751274694 0.00002
NM_020822.3(KCNT1):c.1511-15C>T rs1233580407 0.00002
NM_020822.3(KCNT1):c.1515C>T (p.His505=) rs148302564 0.00002
NM_020822.3(KCNT1):c.1554G>A (p.Ala518=) rs756721305 0.00002
NM_020822.3(KCNT1):c.1563C>T (p.Cys521=) rs377263803 0.00002
NM_020822.3(KCNT1):c.15C>T (p.Asp5=) rs771669111 0.00002
NM_020822.3(KCNT1):c.1619+11C>T rs773278543 0.00002
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys) rs774249834 0.00002
NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg) rs773874266 0.00002
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607 0.00002
NM_020822.3(KCNT1):c.1758C>T (p.His586=) rs142760483 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.1890G>A (p.Glu630=) rs1326023054 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.1940C>T (p.Ala647Val) rs550751778 0.00002
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=) rs779903423 0.00002
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val) rs536588045 0.00002
NM_020822.3(KCNT1):c.2008+9G>T rs375088109 0.00002
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg) rs769596439 0.00002
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485 0.00002
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp) rs772800657 0.00002
NM_020822.3(KCNT1):c.219G>A (p.Leu73=) rs758602991 0.00002
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu) rs760032575 0.00002
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133 0.00002
NM_020822.3(KCNT1):c.2349+20C>T rs375666062 0.00002
NM_020822.3(KCNT1):c.2350-13C>T rs374333732 0.00002
NM_020822.3(KCNT1):c.2403G>A (p.Lys801=) rs761739057 0.00002
NM_020822.3(KCNT1):c.2460A>G (p.Pro820=) rs1219349050 0.00002
NM_020822.3(KCNT1):c.254+10G>C rs772892562 0.00002
NM_020822.3(KCNT1):c.254+6G>C rs923032212 0.00002
NM_020822.3(KCNT1):c.2580G>A (p.Glu860=) rs763685503 0.00002
NM_020822.3(KCNT1):c.2595-8G>A rs779012524 0.00002
NM_020822.3(KCNT1):c.2649G>A (p.Val883=) rs766768602 0.00002
NM_020822.3(KCNT1):c.270C>T (p.Phe90=) rs930841801 0.00002
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279 0.00002
NM_020822.3(KCNT1):c.2730-16C>T rs571787446 0.00002
NM_020822.3(KCNT1):c.2730-3C>T rs1193875216 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.3247G>A (p.Ala1083Thr) rs917893164 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.3380C>T (p.Ala1127Val) rs774589071 0.00002
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=) rs781111074 0.00002
NM_020822.3(KCNT1):c.3409C>T (p.Arg1137Cys) rs779430817 0.00002
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181 0.00002
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936 0.00002
NM_020822.3(KCNT1):c.3502+10C>T rs771187830 0.00002
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425 0.00002
NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg) rs761270493 0.00002
NM_020822.3(KCNT1):c.3538G>A (p.Val1180Ile) rs754383898 0.00002
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His) rs780857518 0.00002
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys) rs771068120 0.00002
NM_020822.3(KCNT1):c.491+3G>A rs943935808 0.00002
NM_020822.3(KCNT1):c.626G>A (p.Arg209His) rs756952430 0.00002
NM_020822.3(KCNT1):c.712G>A (p.Val238Ile) rs760870883 0.00002
NM_020822.3(KCNT1):c.762T>C (p.Asn254=) rs1481356544 0.00002
NM_020822.3(KCNT1):c.843C>T (p.Leu281=) rs780294486 0.00002
NM_020822.3(KCNT1):c.852G>A (p.Thr284=) rs773023899 0.00002
NM_020822.3(KCNT1):c.854+14G>A rs367694801 0.00002
NM_020822.3(KCNT1):c.879G>A (p.Glu293=) rs557092185 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020822.3(KCNT1):c.93C>T (p.Asp31=) rs145033597 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.999C>T (p.Ile333=) rs764327750 0.00002
NM_020822.3(KCNT1):c.1093C>T (p.Arg365Cys) rs751116785 0.00001
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser) rs778405770 0.00001
NM_020822.3(KCNT1):c.110+5A>G rs768926196 0.00001
NM_020822.3(KCNT1):c.110+9T>A rs761910853 0.00001
NM_020822.3(KCNT1):c.1101T>A (p.Arg367=) rs553751644 0.00001
NM_020822.3(KCNT1):c.1109C>T (p.Thr370Met) rs1284049151 0.00001
NM_020822.3(KCNT1):c.111-2A>T rs1382443844 0.00001
NM_020822.3(KCNT1):c.1113G>A (p.Glu371=) rs1217096141 0.00001
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe) rs765193021 0.00001
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381 0.00001
NM_020822.3(KCNT1):c.1167C>T (p.Phe389=) rs868420087 0.00001
NM_020822.3(KCNT1):c.1176G>A (p.Glu392=) rs149085499 0.00001
NM_020822.3(KCNT1):c.1200+16G>A rs542132567 0.00001
NM_020822.3(KCNT1):c.1200+7C>T rs1291798500 0.00001
NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=) rs374653926 0.00001
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) rs368174673 0.00001
NM_020822.3(KCNT1):c.1229C>T (p.Thr410Met) rs954342612 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.1336A>C (p.Lys446Gln) rs144824627 0.00001
NM_020822.3(KCNT1):c.1337+17G>A rs780243563 0.00001
NM_020822.3(KCNT1):c.1337+19A>G rs1373490805 0.00001
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser) rs1336529060 0.00001
NM_020822.3(KCNT1):c.1347T>C (p.Asn449=) rs1383981222 0.00001
NM_020822.3(KCNT1):c.1356C>G (p.Ala452=) rs138306663 0.00001
NM_020822.3(KCNT1):c.1365C>T (p.Ile455=) rs1305510057 0.00001
NM_020822.3(KCNT1):c.1380C>T (p.Asn460=) rs566700584 0.00001
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln) rs141311481 0.00001
NM_020822.3(KCNT1):c.1401+9G>A rs1260793909 0.00001
NM_020822.3(KCNT1):c.1402-8C>T rs1303785635 0.00001
NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr) rs144956052 0.00001
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val) rs762875063 0.00001
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr) rs577633745 0.00001
NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=) rs375585422 0.00001
NM_020822.3(KCNT1):c.1476C>T (p.Leu492=) rs756062584 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.1524T>C (p.Cys508=) rs1328119218 0.00001
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501 0.00001
NM_020822.3(KCNT1):c.1575G>A (p.Ala525=) rs566045604 0.00001
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile) rs753874335 0.00001
NM_020822.3(KCNT1):c.1605C>T (p.His535=) rs1339025046 0.00001
NM_020822.3(KCNT1):c.1608G>A (p.Thr536=) rs768778333 0.00001
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571 0.00001
NM_020822.3(KCNT1):c.1613G>A (p.Arg538His) rs748178951 0.00001
NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser) rs1035980360 0.00001
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg) rs1446587740 0.00001
NM_020822.3(KCNT1):c.1620-13C>T rs1255165614 0.00001
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306 0.00001
NM_020822.3(KCNT1):c.1671C>T (p.Ser557=) rs772929290 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.1751C>T (p.Ala584Val) rs1423355423 0.00001
NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg) rs1217094996 0.00001
NM_020822.3(KCNT1):c.1769+9G>A rs758402819 0.00001
NM_020822.3(KCNT1):c.1770-14G>A rs756948128 0.00001
NM_020822.3(KCNT1):c.1770-4C>G rs1422786351 0.00001
NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn) rs762247965 0.00001
NM_020822.3(KCNT1):c.1812G>A (p.Lys604=) rs754003723 0.00001
NM_020822.3(KCNT1):c.181G>A (p.Val61Met) rs1337263243 0.00001
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser) rs1330106369 0.00001
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp) rs779639843 0.00001
NM_020822.3(KCNT1):c.1851C>T (p.Ala617=) rs1275903338 0.00001
NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu) rs1392866875 0.00001
NM_020822.3(KCNT1):c.1887G>A (p.Lys629=) rs531712032 0.00001
NM_020822.3(KCNT1):c.1905C>T (p.Phe635=) rs1455339615 0.00001
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp) rs1564314603 0.00001
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser) rs753543470 0.00001
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg) rs1022928641 0.00001
NM_020822.3(KCNT1):c.1957C>A (p.Leu653Met) rs771481255 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.1970C>T (p.Pro657Leu) rs566157365 0.00001
NM_020822.3(KCNT1):c.1971G>A (p.Pro657=) rs773072248 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.1988A>G (p.His663Arg) rs1285595185 0.00001
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=) rs558095270 0.00001
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=) rs368777569 0.00001
NM_020822.3(KCNT1):c.2005A>G (p.Met669Val) rs576552962 0.00001
NM_020822.3(KCNT1):c.2008+11A>G rs762508818 0.00001
NM_020822.3(KCNT1):c.2009-9C>G rs1832837736 0.00001
NM_020822.3(KCNT1):c.2012C>T (p.Thr671Ile) rs1832838063 0.00001
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) rs753401695 0.00001
NM_020822.3(KCNT1):c.2028G>T (p.Leu676=) rs1010117716 0.00001
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His) rs1411700632 0.00001
NM_020822.3(KCNT1):c.2049T>C (p.Pro683=) rs1234688449 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.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.2068G>A (p.Gly690Ser) rs1410497158 0.00001
NM_020822.3(KCNT1):c.2069G>A (p.Gly690Asp) rs777827895 0.00001
NM_020822.3(KCNT1):c.2075G>A (p.Gly692Asp) rs922840311 0.00001
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) rs538197009 0.00001
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689 0.00001
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp) rs755348603 0.00001
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=) rs755266973 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.2196G>A (p.Ser732=) rs557680361 0.00001
NM_020822.3(KCNT1):c.220C>A (p.Leu74Met) rs943048769 0.00001
NM_020822.3(KCNT1):c.2216C>T (p.Ser739Leu) rs1163455129 0.00001
NM_020822.3(KCNT1):c.222G>T (p.Leu74=) rs573574312 0.00001
NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe) rs778897238 0.00001
NM_020822.3(KCNT1):c.2243+3G>A rs939389547 0.00001
NM_020822.3(KCNT1):c.2244-10C>T rs758069398 0.00001
NM_020822.3(KCNT1):c.2244-17C>T rs1024730518 0.00001
NM_020822.3(KCNT1):c.2244-5C>T rs746682785 0.00001
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995 0.00001
NM_020822.3(KCNT1):c.2265C>T (p.Pro755=) rs1263083880 0.00001
NM_020822.3(KCNT1):c.2295C>T (p.Thr765=) rs765278495 0.00001
NM_020822.3(KCNT1):c.22C>G (p.Arg8Gly) rs747457929 0.00001
NM_020822.3(KCNT1):c.2339G>A (p.Arg780Gln) rs780759196 0.00001
NM_020822.3(KCNT1):c.2349+4A>G rs745399878 0.00001
NM_020822.3(KCNT1):c.2350-3C>T rs776607977 0.00001
NM_020822.3(KCNT1):c.2350-5C>T rs965133345 0.00001
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr) rs1466772062 0.00001
NM_020822.3(KCNT1):c.2409C>T (p.Ile803=) rs557969167 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.2452A>G (p.Ile818Val) rs1306134073 0.00001
NM_020822.3(KCNT1):c.2455G>A (p.Val819Met) rs771284979 0.00001
NM_020822.3(KCNT1):c.247G>C (p.Asp83His) rs774085172 0.00001
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His) rs747191095 0.00001
NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val) rs1476079719 0.00001
NM_020822.3(KCNT1):c.2522+13G>A rs41310951 0.00001
NM_020822.3(KCNT1):c.2522+14G>A rs947043112 0.00001
NM_020822.3(KCNT1):c.2523-13G>A rs770824523 0.00001
NM_020822.3(KCNT1):c.2538C>T (p.Phe846=) rs1251104570 0.00001
NM_020822.3(KCNT1):c.254+15C>G rs1341686028 0.00001
NM_020822.3(KCNT1):c.255-12C>G rs778749299 0.00001
NM_020822.3(KCNT1):c.255-4T>A rs1564343924 0.00001
NM_020822.3(KCNT1):c.2559C>T (p.Phe853=) rs1166992644 0.00001
NM_020822.3(KCNT1):c.2568C>T (p.Val856=) rs1554777911 0.00001
NM_020822.3(KCNT1):c.2589G>A (p.Val863=) rs558135119 0.00001
NM_020822.3(KCNT1):c.2594+14G>A rs750707802 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020822.3(KCNT1):c.2595-15C>T rs1190489711 0.00001
NM_020822.3(KCNT1):c.261G>A (p.Gln87=) rs777687658 0.00001
NM_020822.3(KCNT1):c.2640G>C (p.Leu880=) rs773647691 0.00001
NM_020822.3(KCNT1):c.2671G>A (p.Ala891Thr) rs752835491 0.00001
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=) rs369904278 0.00001
NM_020822.3(KCNT1):c.2713G>A (p.Val905Met) rs761134824 0.00001
NM_020822.3(KCNT1):c.2715G>A (p.Val905=) rs771377696 0.00001
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp) rs1249219901 0.00001
NM_020822.3(KCNT1):c.2729+15C>T rs200624821 0.00001
NM_020822.3(KCNT1):c.2729+4C>T rs1044688968 0.00001
NM_020822.3(KCNT1):c.2729+5G>A rs759836338 0.00001
NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys) rs1049280147 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.2799C>T (p.Arg933=) rs551148089 0.00001
NM_020822.3(KCNT1):c.2814C>T (p.Tyr938=) rs767742382 0.00001
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403 0.00001
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.2865C>T (p.Asn955=) rs142596339 0.00001
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys) rs1178947201 0.00001
NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser) rs139397246 0.00001
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473 0.00001
NM_020822.3(KCNT1):c.2904C>T (p.Arg968=) rs986294962 0.00001
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile) rs1216283172 0.00001
NM_020822.3(KCNT1):c.2943+14C>T rs562923809 0.00001
NM_020822.3(KCNT1):c.2944-14C>G rs1387209716 0.00001
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met) rs1465054757 0.00001
NM_020822.3(KCNT1):c.2971A>G (p.Ile991Val) rs757503542 0.00001
NM_020822.3(KCNT1):c.2975C>T (p.Thr992Ile) rs1032036573 0.00001
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp) rs368252006 0.00001
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768 0.00001
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951 0.00001
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=) rs1209287528 0.00001
NM_020822.3(KCNT1):c.3002C>T (p.Thr1001Met) rs372775166 0.00001
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu) rs763585049 0.00001
NM_020822.3(KCNT1):c.300G>A (p.Arg100=) rs762249620 0.00001
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=) rs751965012 0.00001
NM_020822.3(KCNT1):c.3027+19G>A rs778490327 0.00001
NM_020822.3(KCNT1):c.3027+1G>A rs756311140 0.00001
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=) rs371694148 0.00001
NM_020822.3(KCNT1):c.3028-16G>A rs1236949709 0.00001
NM_020822.3(KCNT1):c.3046G>A (p.Asp1016Asn) rs779908455 0.00001
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066 0.00001
NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg) rs1450164108 0.00001
NM_020822.3(KCNT1):c.3067G>A (p.Gly1023Ser) rs754128567 0.00001
NM_020822.3(KCNT1):c.3070C>T (p.Arg1024Cys) rs554853844 0.00001
NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His) rs765283220 0.00001
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142 0.00001
NM_020822.3(KCNT1):c.3099C>T (p.Ser1033=) rs377554985 0.00001
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735 0.00001
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys) rs748937639 0.00001
NM_020822.3(KCNT1):c.3105G>A (p.Glu1035=) rs1833915179 0.00001
NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=) rs370878235 0.00001
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184 0.00001
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746 0.00001
NM_020822.3(KCNT1):c.3177+16G>A rs749539780 0.00001
NM_020822.3(KCNT1):c.3177+9C>T rs781750496 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.31G>A (p.Gly11Arg) rs775548158 0.00001
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met) rs771889785 0.00001
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=) rs375957383 0.00001
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro) rs1312042895 0.00001
NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=) rs754919919 0.00001
NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp) rs1206215512 0.00001
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val) rs996610690 0.00001
NM_020822.3(KCNT1):c.3319C>T (p.Arg1107Cys) rs750627411 0.00001
NM_020822.3(KCNT1):c.3322A>G (p.Lys1108Glu) rs1358295612 0.00001
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His) rs1055618053 0.00001
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=) rs768977873 0.00001
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367 0.00001
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly) rs1332070255 0.00001
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln) rs773520283 0.00001
NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys) rs766557144 0.00001
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=) rs1373486252 0.00001
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe) rs1177972273 0.00001
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln) rs750176430 0.00001
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp) rs1588309625 0.00001
NM_020822.3(KCNT1):c.347G>A (p.Arg116Gln) rs748873120 0.00001
NM_020822.3(KCNT1):c.3483G>T (p.Gly1161=) rs371640443 0.00001
NM_020822.3(KCNT1):c.3502+13G>A rs769937688 0.00001
NM_020822.3(KCNT1):c.3502+2dup rs1336283260 0.00001
NM_020822.3(KCNT1):c.3503-15C>T rs373596158 0.00001
NM_020822.3(KCNT1):c.3503-16G>C rs1343359299 0.00001
NM_020822.3(KCNT1):c.3503-17G>A rs761613092 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.3554C>T (p.Pro1185Leu) rs544495873 0.00001
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396 0.00001
NM_020822.3(KCNT1):c.3564G>A (p.Thr1188=) rs530040739 0.00001
NM_020822.3(KCNT1):c.3571G>A (p.Glu1191Lys) rs1292390745 0.00001
NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=) rs1375394882 0.00001
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758 0.00001
NM_020822.3(KCNT1):c.3587+14G>A rs765545901 0.00001
NM_020822.3(KCNT1):c.3588-3C>T rs1222157071 0.00001
NM_020822.3(KCNT1):c.3588-5C>T rs765277880 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.3619G>A (p.Val1207Met) rs766339368 0.00001
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337 0.00001
NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg) rs756986311 0.00001
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln) rs868847760 0.00001
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=) rs755694160 0.00001
NM_020822.3(KCNT1):c.3668C>T (p.Ser1223Leu) rs779379200 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=) rs758617654 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.400G>A (p.Val134Ile) rs766663683 0.00001
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser) rs750374521 0.00001
NM_020822.3(KCNT1):c.425G>T (p.Gly142Val) rs1831131534 0.00001
NM_020822.3(KCNT1):c.429C>T (p.Ile143=) rs767429133 0.00001
NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg) rs1157678641 0.00001
NM_020822.3(KCNT1):c.434+13C>T rs748845591 0.00001
NM_020822.3(KCNT1):c.434+19C>T rs772750955 0.00001
NM_020822.3(KCNT1):c.434+20G>A rs773820998 0.00001
NM_020822.3(KCNT1):c.435-6C>T rs370235990 0.00001
NM_020822.3(KCNT1):c.462C>T (p.Ser154=) rs1298529710 0.00001
NM_020822.3(KCNT1):c.473C>T (p.Ser158Leu) rs751075368 0.00001
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val) rs755980218 0.00001
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys) rs770108075 0.00001
NM_020822.3(KCNT1):c.494C>T (p.Ala165Val) rs1359744304 0.00001
NM_020822.3(KCNT1):c.4C>G (p.Pro2Ala) rs748898708 0.00001
NM_020822.3(KCNT1):c.502C>T (p.Leu168=) rs1175336277 0.00001
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val) rs377687237 0.00001
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys) rs1238224961 0.00001
NM_020822.3(KCNT1):c.546C>T (p.Ile182=) rs778118549 0.00001
NM_020822.3(KCNT1):c.547G>A (p.Val183Met) rs751729308 0.00001
NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser) rs757371759 0.00001
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser) rs778657830 0.00001
NM_020822.3(KCNT1):c.566T>C (p.Leu189Pro) rs749194581 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 0.00001
NM_020822.3(KCNT1):c.600+5G>A rs770367654 0.00001
NM_020822.3(KCNT1):c.601-17C>A rs1242080755 0.00001
NM_020822.3(KCNT1):c.601-4C>G rs752516170 0.00001
NM_020822.3(KCNT1):c.636C>T (p.Phe212=) rs769137731 0.00001
NM_020822.3(KCNT1):c.642G>A (p.Leu214=) rs749747344 0.00001
NM_020822.3(KCNT1):c.645G>A (p.Glu215=) rs1233969286 0.00001
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys) rs551930493 0.00001
NM_020822.3(KCNT1):c.675+10C>T rs1045068086 0.00001
NM_020822.3(KCNT1):c.687G>A (p.Pro229=) rs748796809 0.00001
NM_020822.3(KCNT1):c.730C>T (p.Leu244=) rs376096546 0.00001
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) rs775807509 0.00001
NM_020822.3(KCNT1):c.741C>T (p.His247=) rs1218041775 0.00001
NM_020822.3(KCNT1):c.754A>C (p.Met252Leu) rs755782470 0.00001
NM_020822.3(KCNT1):c.759+11G>A rs1376011545 0.00001
NM_020822.3(KCNT1):c.759+6C>T rs1057522462 0.00001
NM_020822.3(KCNT1):c.759+8G>A rs370804021 0.00001
NM_020822.3(KCNT1):c.765C>T (p.Asp255=) rs1167927802 0.00001
NM_020822.3(KCNT1):c.777C>T (p.Ala259=) rs759317415 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_020822.3(KCNT1):c.804C>T (p.Phe268=) rs138371302 0.00001
NM_020822.3(KCNT1):c.81C>T (p.Phe27=) rs761869915 0.00001
NM_020822.3(KCNT1):c.835C>T (p.Leu279=) rs1187706487 0.00001
NM_020822.3(KCNT1):c.854+19T>G rs762382117 0.00001
NM_020822.3(KCNT1):c.855-12C>T rs1042693872 0.00001
NM_020822.3(KCNT1):c.861C>T (p.Cys287=) rs750884338 0.00001
NM_020822.3(KCNT1):c.882G>A (p.Arg294=) rs755272136 0.00001
NM_020822.3(KCNT1):c.903C>T (p.Leu301=) rs1588330751 0.00001
NM_020822.3(KCNT1):c.90C>T (p.Asp30=) rs1385683784 0.00001
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191 0.00001
NM_020822.3(KCNT1):c.984G>C (p.Gln328His) rs1289554527 0.00001
NC_000009.11:g.(?_138594085)_(138606586_?)dup
NC_000009.11:g.(?_138606403)_(138606586_?)dup
NC_000009.11:g.(?_138606413)_(138606576_?)del
NC_000009.11:g.(?_138641924)_(138649247_?)del
NC_000009.11:g.(?_138651496)_(138651725_?)dup
NC_000009.12:g.(?_135769927)_(135792181_?)dup
NC_000009.12:g.(?_135775290)_(135788182_?)del
NC_000009.12:g.(?_135786177)_(135792181_?)del
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
NM_020822.3(KCNT1):c.1009G>A (p.Val337Met)
NM_020822.3(KCNT1):c.1011G>A (p.Val337=) rs1831789283
NM_020822.3(KCNT1):c.1017C>T (p.Leu339=)
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met) rs558837964
NM_020822.3(KCNT1):c.1020G>A (p.Val340=) rs749129414
NM_020822.3(KCNT1):c.1029A>G (p.Pro343=)
NM_020822.3(KCNT1):c.1035+12G>A
NM_020822.3(KCNT1):c.1035+1G>A rs778538243
NM_020822.3(KCNT1):c.1035+20G>A
NM_020822.3(KCNT1):c.1035+22_1035+37dup
NM_020822.3(KCNT1):c.1036-3C>T
NM_020822.3(KCNT1):c.1036-8del rs766451840
NM_020822.3(KCNT1):c.1036-9C>T
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1039G>A (p.Glu347Lys)
NM_020822.3(KCNT1):c.103G>A (p.Ala35Thr)
NM_020822.3(KCNT1):c.1048G>A (p.Val350Ile)
NM_020822.3(KCNT1):c.1049T>C (p.Val350Ala) rs1329791962
NM_020822.3(KCNT1):c.104C>A (p.Ala35Asp)
NM_020822.3(KCNT1):c.1054C>G (p.Leu352Val)
NM_020822.3(KCNT1):c.1059G>C (p.Trp353Cys)
NM_020822.3(KCNT1):c.1060A>G (p.Met354Val) rs2131473380
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1069C>G (p.Gln357Glu)
NM_020822.3(KCNT1):c.107C>T (p.Pro36Leu)
NM_020822.3(KCNT1):c.1081G>A (p.Gly361Ser)
NM_020822.3(KCNT1):c.1083C>T (p.Gly361=)
NM_020822.3(KCNT1):c.1089C>T (p.Tyr363=) rs1832164748
NM_020822.3(KCNT1):c.108C>T (p.Pro36=)
NM_020822.3(KCNT1):c.1093C>A (p.Arg365Ser)
NM_020822.3(KCNT1):c.1094G>A (p.Arg365His)
NM_020822.3(KCNT1):c.1094G>T (p.Arg365Leu)
NM_020822.3(KCNT1):c.1099C>T (p.Arg367Cys)
NM_020822.3(KCNT1):c.110+16C>A
NM_020822.3(KCNT1):c.110+3dup
NM_020822.3(KCNT1):c.110+7T>A
NM_020822.3(KCNT1):c.110+9T>G
NM_020822.3(KCNT1):c.1100G>A (p.Arg367His)
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)
NM_020822.3(KCNT1):c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG
NM_020822.3(KCNT1):c.111-11dup
NM_020822.3(KCNT1):c.111-12G>C rs768967168
NM_020822.3(KCNT1):c.111-15G>A
NM_020822.3(KCNT1):c.111-18G>C
NM_020822.3(KCNT1):c.111-4G>A
NM_020822.3(KCNT1):c.111-6C>T
NM_020822.3(KCNT1):c.111-8G>C rs779128853
NM_020822.3(KCNT1):c.111-8G>T rs779128853
NM_020822.3(KCNT1):c.1115A>G (p.Lys372Arg) rs2131473824
NM_020822.3(KCNT1):c.1128G>A (p.Leu376=)
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly) rs1588255201
NM_020822.3(KCNT1):c.1132_1133del (p.Val378fs) rs2131473970
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn) rs1481122214
NM_020822.3(KCNT1):c.113G>T (p.Arg38Leu)
NM_020822.3(KCNT1):c.1150G>T (p.Asp384Tyr)
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=) rs756900818
NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile) rs1832172453
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys) rs780708628
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu) rs1832174053
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr) rs1588343193
NM_020822.3(KCNT1):c.1189C>T (p.Pro397Ser) rs2131474528
NM_020822.3(KCNT1):c.118T>C (p.Cys40Arg)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1194G>A (p.Arg398=)
NM_020822.3(KCNT1):c.1194G>T (p.Arg398=) rs781506115
NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg) rs747733979
NM_020822.3(KCNT1):c.1200+12_1200+13delinsGC
NM_020822.3(KCNT1):c.1200+5G>A
NM_020822.3(KCNT1):c.1200+8C>G
NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)
NM_020822.3(KCNT1):c.1201-17C>G
NM_020822.3(KCNT1):c.1201-4G>A rs2131477231
NM_020822.3(KCNT1):c.1208A>G (p.Tyr403Cys) rs2131477259
NM_020822.3(KCNT1):c.1215C>A (p.Val405=)
NM_020822.3(KCNT1):c.1224C>A (p.Cys408Ter)
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu) rs1064794752
NM_020822.3(KCNT1):c.1233G>C (p.Glu411Asp)
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val) rs988871689
NM_020822.3(KCNT1):c.1234A>T (p.Met412Leu)
NM_020822.3(KCNT1):c.1236G>A (p.Met412Ile) rs2131477505
NM_020822.3(KCNT1):c.1237G>A (p.Asp413Asn) rs2131477515
NM_020822.3(KCNT1):c.123G>A (p.Ala41=) rs1352859989
NM_020822.3(KCNT1):c.1245G>C (p.Gln415His)
NM_020822.3(KCNT1):c.1249C>G (p.Arg417Gly)
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1251C>G (p.Arg417=)
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser) rs1440098446
NM_020822.3(KCNT1):c.1260_1269dup (p.Leu424fs)
NM_020822.3(KCNT1):c.126G>A (p.Gly42=) rs1278186698
NM_020822.3(KCNT1):c.126G>T (p.Gly42=) rs1278186698
NM_020822.3(KCNT1):c.1275G>A (p.Trp425Ter)
NM_020822.3(KCNT1):c.1281G>T (p.Gln427His)
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp) rs373755663
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1284G>A (p.Arg428=) rs943112493
NM_020822.3(KCNT1):c.1287C>A (p.Val429=)
NM_020822.3(KCNT1):c.129C>T (p.Asp43=)
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr) rs1832220041
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile) rs1057518066
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1311C>G (p.Leu437=) rs770741523
NM_020822.3(KCNT1):c.1317C>T (p.Asp439=) rs2131477940
NM_020822.3(KCNT1):c.1323C>A (p.Asp441Glu)
NM_020822.3(KCNT1):c.1326C>T (p.Leu442=) rs200910140
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1330C>T (p.Arg444Ter)
NM_020822.3(KCNT1):c.1335C>T (p.Ala445=) rs751944320
NM_020822.3(KCNT1):c.1337+12T>A
NM_020822.3(KCNT1):c.1338-11G>A
NM_020822.3(KCNT1):c.1338-12G>C
NM_020822.3(KCNT1):c.1338-12G>T rs1015003209
NM_020822.3(KCNT1):c.1338-16C>A
NM_020822.3(KCNT1):c.1338-2A>C
NM_020822.3(KCNT1):c.1342G>C (p.Asp448His)
NM_020822.3(KCNT1):c.1347T>A (p.Asn449Lys)
NM_020822.3(KCNT1):c.1353G>A (p.Glu451=) rs1832498978
NM_020822.3(KCNT1):c.135G>A (p.Ala45=) rs769898346
NM_020822.3(KCNT1):c.135G>C (p.Ala45=) rs769898346
NM_020822.3(KCNT1):c.135G>T (p.Ala45=)
NM_020822.3(KCNT1):c.1365C>A (p.Ile455=)
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1373G>A (p.Ser458Asn)
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1394C>A (p.Thr465Lys) rs539139475
NM_020822.3(KCNT1):c.1396G>A (p.Ala466Thr) rs1832501333
NM_020822.3(KCNT1):c.1399G>A (p.Ala467Thr)
NM_020822.3(KCNT1):c.139C>T (p.Leu47=) rs2131329270
NM_020822.3(KCNT1):c.1401+17C>T
NM_020822.3(KCNT1):c.1401+6_1401+9del
NM_020822.3(KCNT1):c.1401+7G>A rs2131496908
NM_020822.3(KCNT1):c.1401A>G (p.Ala467=)
NM_020822.3(KCNT1):c.1402-13C>T
NM_020822.3(KCNT1):c.1402-6C>G
NM_020822.3(KCNT1):c.1402-7C>G
NM_020822.3(KCNT1):c.1407C>T (p.His469=) rs537722828
NM_020822.3(KCNT1):c.1409A>G (p.Gln470Arg) rs773888049
NM_020822.3(KCNT1):c.1416C>T (p.Ile472=)
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.1432G>A (p.Val478Met)
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=) rs2131497788
NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)
NM_020822.3(KCNT1):c.1455C>T (p.Cys485=)
NM_020822.3(KCNT1):c.1458C>A (p.Pro486=)
NM_020822.3(KCNT1):c.1461C>T (p.Leu487=) rs763089040
NM_020822.3(KCNT1):c.1473C>A (p.Ile491=)
NM_020822.3(KCNT1):c.1473C>T (p.Ile491=) rs1832518596
NM_020822.3(KCNT1):c.147C>A (p.Thr49=) rs751274694
NM_020822.3(KCNT1):c.1488C>T (p.Asn496=)
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg) rs1245114972
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
NM_020822.3(KCNT1):c.150C>A (p.Ala50=) rs761304952
NM_020822.3(KCNT1):c.1510+10G>C rs921050767
NM_020822.3(KCNT1):c.1510+14A>G
NM_020822.3(KCNT1):c.1510+15C>A rs1416512239
NM_020822.3(KCNT1):c.1510+17C>T
NM_020822.3(KCNT1):c.1510+31_1510+70del rs780670028
NM_020822.3(KCNT1):c.1510+3G>A rs1832520059
NM_020822.3(KCNT1):c.1510+5G>A
NM_020822.3(KCNT1):c.1510+8T>C
NM_020822.3(KCNT1):c.1510+8T>G
NM_020822.3(KCNT1):c.1511-10C>T
NM_020822.3(KCNT1):c.1511-11A>T rs2131504578
NM_020822.3(KCNT1):c.1511-12C>A rs549024643
NM_020822.3(KCNT1):c.1511-12C>G rs549024643
NM_020822.3(KCNT1):c.1511-12C>T
NM_020822.3(KCNT1):c.1511-19C>T rs2131504498
NM_020822.3(KCNT1):c.1512C>T (p.Asp504=)
NM_020822.3(KCNT1):c.1518G>A (p.Val506=)
NM_020822.3(KCNT1):c.151G>A (p.Gly51Ser)
NM_020822.3(KCNT1):c.1525GAG[2] (p.Glu511del)
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala) rs1554763393
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg) rs1832635534
NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1568_1585dup (p.Thr528_Leu529insArgProAlaThrSerThr)
NM_020822.3(KCNT1):c.1571C>T (p.Pro524Leu)
NM_020822.3(KCNT1):c.1585C>G (p.Leu529Val)
NM_020822.3(KCNT1):c.1596G>A (p.Leu532=)
NM_020822.3(KCNT1):c.15C>G (p.Asp5Glu)
NM_020822.3(KCNT1):c.1602G>A (p.Val534=) rs2131505379
NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)
NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)
NM_020822.3(KCNT1):c.1611C>G (p.Ser537=) rs2131505461
NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)
NM_020822.3(KCNT1):c.1619+13T>A rs2131505684
NM_020822.3(KCNT1):c.1619+13_1619+19del
NM_020822.3(KCNT1):c.1619+16C>T
NM_020822.3(KCNT1):c.1619+17C>A rs1384470539
NM_020822.3(KCNT1):c.1619+17C>T
NM_020822.3(KCNT1):c.1619+18C>G
NM_020822.3(KCNT1):c.1619+19G>A rs374386910
NM_020822.3(KCNT1):c.1619+20_1619+27del rs1064795535
NM_020822.3(KCNT1):c.1619+5G>A
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1619+6T>A rs1328836350
NM_020822.3(KCNT1):c.1620-10_1620-5dup rs754045989
NM_020822.3(KCNT1):c.1620-12C>T
NM_020822.3(KCNT1):c.1620-14_1620-4dup
NM_020822.3(KCNT1):c.1620-15C>G
NM_020822.3(KCNT1):c.1620-15_1620-5del rs761464076
NM_020822.3(KCNT1):c.1620-3C>T
NM_020822.3(KCNT1):c.1620-9G>C
NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys) rs753040489
NM_020822.3(KCNT1):c.162G>T (p.Met54Ile) rs2131329345
NM_020822.3(KCNT1):c.1636C>G (p.Pro546Ala) rs894604084
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly) rs1564370162
NM_020822.3(KCNT1):c.1651C>T (p.Arg551Cys) rs749316999
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His) rs567764094
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=) rs1832666302
NM_020822.3(KCNT1):c.1654A>G (p.Met552Val) rs2131507644
NM_020822.3(KCNT1):c.165C>T (p.Ser55=)
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys) rs1564370223
NM_020822.3(KCNT1):c.1675A>C (p.Asn559His)
NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys) rs765969410
NM_020822.3(KCNT1):c.1683G>A (p.Val561=) rs1253303573
NM_020822.3(KCNT1):c.1684T>C (p.Tyr562His)
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys) rs1832668143
NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=) rs760141025
NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr) rs1190253737
NM_020822.3(KCNT1):c.1693C>T (p.Arg565Cys)
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1695C>T (p.Arg565=)
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val) rs1832669452
NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr) rs1832669667
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer) rs1554774874
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg) rs773874266
NM_020822.3(KCNT1):c.1703A>G (p.Asp568Gly)
NM_020822.3(KCNT1):c.1704C>T (p.Asp568=)
NM_020822.3(KCNT1):c.1713C>T (p.Phe571=)
NM_020822.3(KCNT1):c.1719C>T (p.Arg573=)
NM_020822.3(KCNT1):c.1731C>A (p.Gly577=)
NM_020822.3(KCNT1):c.1737C>T (p.Ser579=) rs775919081
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly) rs1588255313
NM_020822.3(KCNT1):c.1742C>T (p.Thr581Ile)
NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys) rs1832673206
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly) rs1554774904
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) rs1554774904
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.174C>T (p.Asp58=) rs2131329369
NM_020822.3(KCNT1):c.1752C>T (p.Ala584=)
NM_020822.3(KCNT1):c.1758C>A (p.His586Gln) rs142760483
NM_020822.3(KCNT1):c.1760C>T (p.Ala587Val) rs2131508404
NM_020822.3(KCNT1):c.1762C>T (p.His588Tyr)
NM_020822.3(KCNT1):c.1764C>T (p.His588=)
NM_020822.3(KCNT1):c.1769+11del rs2131508480
NM_020822.3(KCNT1):c.1769+15_1769+16inv
NM_020822.3(KCNT1):c.1769+19C>T
NM_020822.3(KCNT1):c.1769+20A>G rs1057524400
NM_020822.3(KCNT1):c.1769+6G>A rs927454585
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.1770-10C>G
NM_020822.3(KCNT1):c.1770-20T>C rs1239661382
NM_020822.3(KCNT1):c.1770-3C>T
NM_020822.3(KCNT1):c.1770-7T>C
NM_020822.3(KCNT1):c.1770-7_1785dup
NM_020822.3(KCNT1):c.1777G>C (p.Val593Leu)
NM_020822.3(KCNT1):c.1779G>A (p.Val593=) rs748744989
NM_020822.3(KCNT1):c.1779G>T (p.Val593=) rs748744989
NM_020822.3(KCNT1):c.1788C>G (p.Ile596Met)
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
NM_020822.3(KCNT1):c.1794G>C (p.Leu598=) rs1588361953
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) rs773621687
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del) rs752708934
NM_020822.3(KCNT1):c.1809C>A (p.Asn603Lys)
NM_020822.3(KCNT1):c.1811A>C (p.Lys604Thr)
NM_020822.3(KCNT1):c.1815C>A (p.Ser605Arg) rs113201678
NM_020822.3(KCNT1):c.1815C>T (p.Ser605=) rs113201678
NM_020822.3(KCNT1):c.1822C>T (p.Leu608=)
NM_020822.3(KCNT1):c.1824G>A (p.Leu608=) rs764141661
NM_020822.3(KCNT1):c.1828C>A (p.Pro610Thr)
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.1830G>C (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.1831G>C (p.Gly611Arg)
NM_020822.3(KCNT1):c.1833del (p.Arg613fs) rs1832711486
NM_020822.3(KCNT1):c.1839G>T (p.Arg613=)
NM_020822.3(KCNT1):c.183G>A (p.Val61=)
NM_020822.3(KCNT1):c.1852G>C (p.Ala618Pro)
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val) rs1832713510
NM_020822.3(KCNT1):c.1860C>T (p.Asp620=)
NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn) rs151006970
NM_020822.3(KCNT1):c.1862C>T (p.Thr621Ile) rs151006970
NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His) rs1832714833
NM_020822.3(KCNT1):c.1873A>G (p.Ile625Val)
NM_020822.3(KCNT1):c.1874T>A (p.Ile625Asn)
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=) rs1554775088
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.188C>T (p.Pro63Leu)
NM_020822.3(KCNT1):c.1891del (p.Glu631fs) rs1171823087
NM_020822.3(KCNT1):c.1892_1900del (p.Glu631_Ser633del) rs2131511280
NM_020822.3(KCNT1):c.1893G>A (p.Glu631=) rs2131511290
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu) rs1832717620
NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)
NM_020822.3(KCNT1):c.1940C>A (p.Ala647Asp) rs550751778
NM_020822.3(KCNT1):c.1946C>G (p.Ser649Trp) rs747671066
NM_020822.3(KCNT1):c.1950G>T (p.Gly650=)
NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)
NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg) rs1832720528
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu) rs536588045
NM_020822.3(KCNT1):c.1956G>T (p.Gly652=)
NM_020822.3(KCNT1):c.1957_1958insACGGGC (p.Gly652_Leu653insHisGly)
NM_020822.3(KCNT1):c.195_254+851del rs1835645943
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln) rs770039542
NM_020822.3(KCNT1):c.1966G>A (p.Gly656Ser) rs1832721615
NM_020822.3(KCNT1):c.196C>G (p.Pro66Ala)
NM_020822.3(KCNT1):c.1970C>G (p.Pro657Arg)
NM_020822.3(KCNT1):c.1975del (p.Arg659fs) rs1832722657
NM_020822.3(KCNT1):c.1979T>C (p.Leu660Pro)
NM_020822.3(KCNT1):c.197C>T (p.Pro66Leu)
NM_020822.3(KCNT1):c.1982C>T (p.Pro661Leu) rs2131511927
NM_020822.3(KCNT1):c.1984G>A (p.Val662Met) rs757867931
NM_020822.3(KCNT1):c.1984G>C (p.Val662Leu)
NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu) rs757867931
NM_020822.3(KCNT1):c.198G>A (p.Pro66=)
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn) rs1832724038
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=) rs368777569
NM_020822.3(KCNT1):c.1999G>A (p.Ala667Thr)
NM_020822.3(KCNT1):c.1999G>T (p.Ala667Ser)
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys) rs1060503698
NM_020822.3(KCNT1):c.2001C>T (p.Ala667=)
NM_020822.3(KCNT1):c.2008+15del rs2131512215
NM_020822.3(KCNT1):c.2008+16C>T
NM_020822.3(KCNT1):c.2008+17G>A
NM_020822.3(KCNT1):c.2008+6C>A
NM_020822.3(KCNT1):c.2009-12G>A
NM_020822.3(KCNT1):c.2009-13G>T rs1391208726
NM_020822.3(KCNT1):c.2009-2A>G rs1318491844
NM_020822.3(KCNT1):c.2009-3C>T rs2131520063
NM_020822.3(KCNT1):c.2009-7C>T rs935840917
NM_020822.3(KCNT1):c.2011A>G (p.Thr671Ala) rs1364315508
NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)
NM_020822.3(KCNT1):c.2016G>C (p.Val672=)
NM_020822.3(KCNT1):c.2019C>T (p.Ala673=)
NM_020822.3(KCNT1):c.2025C>T (p.Asp675=)
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2036C>T (p.Thr679Ile) rs2131520253
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly) rs1207174167
NM_020822.3(KCNT1):c.204C>T (p.Tyr68=) rs2131329436
NM_020822.3(KCNT1):c.2055G>A (p.Gln685=)
NM_020822.3(KCNT1):c.2061C>A (p.Gly687=) rs748229745
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2064T>C (p.Gly688=)
NM_020822.3(KCNT1):c.2064_2069dup (p.Gly692_Ser693insGlyGly)
NM_020822.3(KCNT1):c.2071G>T (p.Gly691Trp)
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)
NM_020822.3(KCNT1):c.2084T>C (p.Leu695Pro)
NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val) rs775382017
NM_020822.3(KCNT1):c.2089C>T (p.Leu697=) rs1218571907
NM_020822.3(KCNT1):c.2091G>A (p.Leu697=)
NM_020822.3(KCNT1):c.2095A>G (p.Thr699Ala) rs1832847354
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln) rs1554775570
NM_020822.3(KCNT1):c.2099_2103dup (p.Gly702fs)
NM_020822.3(KCNT1):c.20C>T (p.Ala7Val) rs1044336128
NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser) rs1588367542
NM_020822.3(KCNT1):c.2108C>T (p.Ser703Leu)
NM_020822.3(KCNT1):c.2109G>A (p.Ser703=) rs767200583
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln) rs1407599692
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=) rs2131521147
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr) rs892635002
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
NM_020822.3(KCNT1):c.2130C>T (p.Ile710=) rs1832851605
NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr) rs1277141686
NM_020822.3(KCNT1):c.2132C>T (p.Ala711Val) rs1312096992
NM_020822.3(KCNT1):c.2137G>T (p.Val713Phe)
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=) rs752522838
NM_020822.3(KCNT1):c.2151C>A (p.Ala717=)
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=) rs758589013
NM_020822.3(KCNT1):c.2152G>T (p.Asp718Tyr)
NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs) rs1832854272
NM_020822.3(KCNT1):c.2168_2175dup (p.Asp726fs)
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.2172C>T (p.Pro724=)
NM_020822.3(KCNT1):c.2175C>T (p.Cys725=) rs368450848
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.2190C>T (p.Asp730=) rs2131521695
NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu) rs774281111
NM_020822.3(KCNT1):c.2198A>G (p.Glu733Gly) rs2131521801
NM_020822.3(KCNT1):c.2198A>T (p.Glu733Val)
NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del) rs1832857720
NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del) rs781600347
NM_020822.3(KCNT1):c.220C>T (p.Leu74=) rs943048769
NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)
NM_020822.3(KCNT1):c.2212C>T (p.Pro738Ser)
NM_020822.3(KCNT1):c.2214G>T (p.Pro738=)
NM_020822.3(KCNT1):c.2220C>T (p.Asp740=) rs148162797
NM_020822.3(KCNT1):c.2222A>C (p.Asp741Ala) rs756359375
NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly) rs756359375
NM_020822.3(KCNT1):c.2229G>A (p.Gly743=) rs1289338720
NM_020822.3(KCNT1):c.2229G>T (p.Gly743=) rs1289338720
NM_020822.3(KCNT1):c.2232C>G (p.Leu744=) rs1281401990
NM_020822.3(KCNT1):c.2238G>A (p.Val746=)
NM_020822.3(KCNT1):c.2239G>A (p.Val747Ile)
NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)
NM_020822.3(KCNT1):c.2243+10G>A
NM_020822.3(KCNT1):c.2243+10G>T
NM_020822.3(KCNT1):c.2243+20C>T rs989956820
NM_020822.3(KCNT1):c.2243+6T>C
NM_020822.3(KCNT1):c.2244-14G>A
NM_020822.3(KCNT1):c.2244-1G>A
NM_020822.3(KCNT1):c.2244-20G>A
NM_020822.3(KCNT1):c.2248G>A (p.Val750Met) rs2131534801
NM_020822.3(KCNT1):c.2268C>A (p.Asn756Lys)
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=) rs370521183
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu) rs1833087099
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=) rs2131535193
NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala) rs751320619
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=) rs1588376018
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del) rs1390654782
NM_020822.3(KCNT1):c.2337G>A (p.Leu779=) rs544099606
NM_020822.3(KCNT1):c.2338C>A (p.Arg780=)
NM_020822.3(KCNT1):c.2349+19C>T
NM_020822.3(KCNT1):c.2349+6G>T rs1418169170
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2349+8del rs748745850
NM_020822.3(KCNT1):c.2350-13_2350-12insCCTGACTCCAGT
NM_020822.3(KCNT1):c.2350-8G>T
NM_020822.3(KCNT1):c.2370T>C (p.Tyr790=) rs1588380952
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val) rs1833240649
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg) rs1233102018
NM_020822.3(KCNT1):c.238T>C (p.Phe80Leu) rs1454449324
NM_020822.3(KCNT1):c.2391G>A (p.Gly797=) rs2131543508
NM_020822.3(KCNT1):c.2397G>A (p.Lys799=)
NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.3(KCNT1):c.240C>T (p.Phe80=) rs1554763398
NM_020822.3(KCNT1):c.2411T>C (p.Ile804Thr) rs2131543567
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=) rs142726010
NM_020822.3(KCNT1):c.241_246del (p.Gln81_Asn82del)
NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met) rs753288865
NM_020822.3(KCNT1):c.2433C>T (p.Gly811=)
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser) rs1564380461
NM_020822.3(KCNT1):c.2436T>C (p.Asn812=)
NM_020822.3(KCNT1):c.2446A>G (p.Asn816Asp) rs2131543767
NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu) rs1833245627
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2457G>A (p.Val819=)
NM_020822.3(KCNT1):c.2464C>A (p.Arg822=)
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp) rs746067661
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln) rs1833247008
NM_020822.3(KCNT1):c.2466G>A (p.Arg822=)
NM_020822.3(KCNT1):c.2469C>A (p.Ala823=)
NM_020822.3(KCNT1):c.2475C>T (p.Tyr825=) rs2131543938
NM_020822.3(KCNT1):c.2479T>A (p.Ser827Thr)
NM_020822.3(KCNT1):c.2480C>A (p.Ser827Tyr)
NM_020822.3(KCNT1):c.248A>G (p.Asp83Gly)
NM_020822.3(KCNT1):c.2493G>A (p.Leu831=)
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met) rs753584318
NM_020822.3(KCNT1):c.2505G>A (p.Val835=)
NM_020822.3(KCNT1):c.2509C>T (p.Leu837=) rs2131544108
NM_020822.3(KCNT1):c.250G>A (p.Asp84Asn)
NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del) rs1833249937
NM_020822.3(KCNT1):c.251A>G (p.Asp84Gly)
NM_020822.3(KCNT1):c.2522+12G>A
NM_020822.3(KCNT1):c.2522+15G>A rs1313134564
NM_020822.3(KCNT1):c.2522+15dup
NM_020822.3(KCNT1):c.2522+28_2522+36del rs759743096
NM_020822.3(KCNT1):c.2522+28_2522+36dup rs759743096
NM_020822.3(KCNT1):c.2522+28_2522+82del
NM_020822.3(KCNT1):c.2522+3G>A rs1588381370
NM_020822.3(KCNT1):c.2522+3G>T
NM_020822.3(KCNT1):c.2523-12C>T rs1007419018
NM_020822.3(KCNT1):c.2523-14C>T
NM_020822.3(KCNT1):c.2523-5del
NM_020822.3(KCNT1):c.2525C>T (p.Pro842Leu)
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.3(KCNT1):c.254+10G>A
NM_020822.3(KCNT1):c.254+11_254+12insTAGGGACCGGGC
NM_020822.3(KCNT1):c.254+12_254+13insTG rs1443453581
NM_020822.3(KCNT1):c.254+15C>T
NM_020822.3(KCNT1):c.254+17G>A rs1425749928
NM_020822.3(KCNT1):c.254+18G>A
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
NM_020822.3(KCNT1):c.254+3A>G
NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)
NM_020822.3(KCNT1):c.255-11T>C
NM_020822.3(KCNT1):c.255-14C>T
NM_020822.3(KCNT1):c.255-16CT[2] rs760287830
NM_020822.3(KCNT1):c.2555G>T (p.Cys852Phe) rs1474100198
NM_020822.3(KCNT1):c.2561C>T (p.Pro854Leu)
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile) rs1172819191
NM_020822.3(KCNT1):c.2575A>G (p.Met859Val)
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) rs1564381972
NM_020822.3(KCNT1):c.2592C>T (p.Asp864=)
NM_020822.3(KCNT1):c.2594+10G>A rs2131548582
NM_020822.3(KCNT1):c.2594+13C>T
NM_020822.3(KCNT1):c.2594+7C>A rs545094921
NM_020822.3(KCNT1):c.2594+8G>A
NM_020822.3(KCNT1):c.2595-11C>T
NM_020822.3(KCNT1):c.2595-4C>T
NM_020822.3(KCNT1):c.2595-7C>T
NM_020822.3(KCNT1):c.2598G>A (p.Leu866=) rs2131549376
NM_020822.3(KCNT1):c.2598G>T (p.Leu866=)
NM_020822.3(KCNT1):c.2599G>A (p.Asp867Asn) rs1424894748
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly) rs757223440
NM_020822.3(KCNT1):c.2601C>T (p.Asp867=) rs1833360129
NM_020822.3(KCNT1):c.2610G>A (p.Leu870=)
NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
NM_020822.3(KCNT1):c.2620A>G (p.Ile874Val)
NM_020822.3(KCNT1):c.2621T>C (p.Ile874Thr)
NM_020822.3(KCNT1):c.2622C>T (p.Ile874=)
NM_020822.3(KCNT1):c.2628T>C (p.Tyr876=) rs2131549484
NM_020822.3(KCNT1):c.2631G>A (p.Ala877=)
NM_020822.3(KCNT1):c.2634C>A (p.Asp878Glu)
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=) rs1588384964
NM_020822.3(KCNT1):c.2639TGG[3] (p.Val883del) rs2131549532
NM_020822.3(KCNT1):c.2643G>C (p.Val881=)
NM_020822.3(KCNT1):c.2646G>A (p.Val882=)
NM_020822.3(KCNT1):c.2647G>A (p.Val883Met)
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.267G>A (p.Glu89=) rs917179079
NM_020822.3(KCNT1):c.2680G>T (p.Asp894Tyr)
NM_020822.3(KCNT1):c.2685C>T (p.Tyr895=)
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_020822.3(KCNT1):c.2690C>T (p.Ala897Val)
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr) rs778647834
NM_020822.3(KCNT1):c.2695G>T (p.Ala899Ser)
NM_020822.3(KCNT1):c.26C>A (p.Thr9Asn)
NM_020822.3(KCNT1):c.26C>T (p.Thr9Ile) rs771423997
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=) rs1588385244
NM_020822.3(KCNT1):c.2727C>A (p.Phe909Leu)
NM_020822.3(KCNT1):c.2729+10G>A
NM_020822.3(KCNT1):c.2729+20C>T
NM_020822.3(KCNT1):c.2729G>T (p.Arg910Leu)
NM_020822.3(KCNT1):c.2730-15_2730-9dup
NM_020822.3(KCNT1):c.2730-18G>C
NM_020822.3(KCNT1):c.2730-4C>G
NM_020822.3(KCNT1):c.2730-6C>T rs1300286037
NM_020822.3(KCNT1):c.2733C>G (p.Leu911=)
NM_020822.3(KCNT1):c.2734_2745dup (p.Leu915_Ser916insPheProSerLeu)
NM_020822.3(KCNT1):c.2736C>T (p.Phe912=) rs780650756
NM_020822.3(KCNT1):c.2739C>T (p.Pro913=) rs140516977
NM_020822.3(KCNT1):c.2745C>T (p.Leu915=)
NM_020822.3(KCNT1):c.2746A>G (p.Ser916Gly)
NM_020822.3(KCNT1):c.2749A>G (p.Ile917Val) rs2131552837
NM_020822.3(KCNT1):c.2751C>T (p.Ile917=)
NM_020822.3(KCNT1):c.2757G>C (p.Thr919=) rs775752475
NM_020822.3(KCNT1):c.2766C>G (p.Thr922=)
NM_020822.3(KCNT1):c.2767C>T (p.His923Tyr)
NM_020822.3(KCNT1):c.2771C>T (p.Pro924Leu)
NM_020822.3(KCNT1):c.2778C>T (p.Asn926=) rs1833435836
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu) rs1486195544
NM_020822.3(KCNT1):c.2780T>C (p.Met927Thr)
NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)
NM_020822.3(KCNT1):c.278A>G (p.Asn93Ser)
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>G (p.Arg933Gly) rs150395210
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.2800G>T (p.Ala934Ser) rs397515403
NM_020822.3(KCNT1):c.2801C>T (p.Ala934Val)
NM_020822.3(KCNT1):c.2804A>G (p.Lys935Arg) rs1414528567
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn) rs1833441002
NM_020822.3(KCNT1):c.2819T>C (p.Leu940Pro)
NM_020822.3(KCNT1):c.2824C>G (p.Leu942Val) rs1833442352
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe) rs1833442719
NM_020822.3(KCNT1):c.2830A>C (p.Lys944Gln)
NM_020822.3(KCNT1):c.2833C>T (p.Leu945=) rs759566793
NM_020822.3(KCNT1):c.2835A>T (p.Leu945=) rs1401533323
NM_020822.3(KCNT1):c.2841+17C>T
NM_020822.3(KCNT1):c.2841+5G>A
NM_020822.3(KCNT1):c.2841+8G>A rs1833445005
NM_020822.3(KCNT1):c.2842-11C>T rs1051472581
NM_020822.3(KCNT1):c.2842-11_2842-9del
NM_020822.3(KCNT1):c.2842-16C>T
NM_020822.3(KCNT1):c.2842-18G>T
NM_020822.3(KCNT1):c.2842-25_2842-15del rs2131570559
NM_020822.3(KCNT1):c.2842-36_2842-12del
NM_020822.3(KCNT1):c.2842-6C>T rs2131570804
NM_020822.3(KCNT1):c.2843G>C (p.Arg948Thr) rs755704046
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=) rs779429071
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.2862C>T (p.Ser954=) rs2131570981
NM_020822.3(KCNT1):c.2866C>T (p.Leu956=)
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr) rs1318262895
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2887C>G (p.Pro963Ala) rs2131571194
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu) rs997774104
NM_020822.3(KCNT1):c.2889G>A (p.Pro963=) rs376839128
NM_020822.3(KCNT1):c.288C>G (p.Thr96=)
NM_020822.3(KCNT1):c.288C>T (p.Thr96=) rs764504563
NM_020822.3(KCNT1):c.2893G>A (p.Ala965Thr)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.28C>G (p.Pro10Ala)
NM_020822.3(KCNT1):c.2903G>T (p.Arg968Leu) rs1325608473
NM_020822.3(KCNT1):c.2910C>T (p.Phe970=)
NM_020822.3(KCNT1):c.2910CAGCAT[3] (p.Ser973_Met974insIleSer)
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr) rs1279003717
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=) rs878855056
NM_020822.3(KCNT1):c.2919C>T (p.Ser973=)
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=) rs1554779778
NM_020822.3(KCNT1):c.2943+10G>C rs1165451009
NM_020822.3(KCNT1):c.2943+15G>A rs369299178
NM_020822.3(KCNT1):c.2943+15G>C
NM_020822.3(KCNT1):c.2943+15G>T
NM_020822.3(KCNT1):c.2943+19G>A
NM_020822.3(KCNT1):c.2943+1G>C rs1833833144
NM_020822.3(KCNT1):c.2944-10_2944-9insTCTCCCTC rs1833876769
NM_020822.3(KCNT1):c.2944-13_2944-6dup
NM_020822.3(KCNT1):c.2944-14_2944-13insTCTC
NM_020822.3(KCNT1):c.2944-15_2944-14insTCCT
NM_020822.3(KCNT1):c.2944-19_2944-13del rs1487601601
NM_020822.3(KCNT1):c.2944-21_2944-6del
NM_020822.3(KCNT1):c.2944-3C>T rs1554779944
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[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.2944-6G>C rs1452612792
NM_020822.3(KCNT1):c.2944-8C>G
NM_020822.3(KCNT1):c.2946C>T (p.Ser982=) rs2131574304
NM_020822.3(KCNT1):c.2950G>C (p.Val984Leu)
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn) rs1833883179
NM_020822.3(KCNT1):c.2958C>T (p.Asp986=)
NM_020822.3(KCNT1):c.2960A>G (p.Tyr987Cys)
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala) rs1833884066
NM_020822.3(KCNT1):c.2970C>T (p.Thr990=)
NM_020822.3(KCNT1):c.2973C>T (p.Ile991=) rs781212036
NM_020822.3(KCNT1):c.2976C>T (p.Thr992=) rs1331320043
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln) rs1833885872
NM_020822.3(KCNT1):c.298C>A (p.Arg100=)
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) rs1831067002
NM_020822.3(KCNT1):c.2992C>T (p.Leu998=)
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=) rs560435329
NM_020822.3(KCNT1):c.3011C>G (p.Ser1004Trp)
NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser) rs1833891089
NM_020822.3(KCNT1):c.3023G>A (p.Cys1008Tyr)
NM_020822.3(KCNT1):c.3027+10C>T
NM_020822.3(KCNT1):c.3027+10_3027+23del
NM_020822.3(KCNT1):c.3027+12_3027+13insC
NM_020822.3(KCNT1):c.3027+13G>C
NM_020822.3(KCNT1):c.3027+18_3027+22del rs778352896
NM_020822.3(KCNT1):c.3027+8C>G
NM_020822.3(KCNT1):c.3028-10C>G rs2131575320
NM_020822.3(KCNT1):c.3028-2A>T rs2131575343
NM_020822.3(KCNT1):c.3028-5T>G rs755073132
NM_020822.3(KCNT1):c.3028-8C>T rs2131575328
NM_020822.3(KCNT1):c.3040G>A (p.Glu1014Lys)
NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr) rs779908455
NM_020822.3(KCNT1):c.304A>G (p.Lys102Glu)
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3060C>T (p.Arg1020=)
NM_020822.3(KCNT1):c.3072C>G (p.Arg1024=)
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) rs1588401995
NM_020822.3(KCNT1):c.3092C>T (p.Ser1031Phe) rs750371003
NM_020822.3(KCNT1):c.30G>C (p.Pro10=)
NM_020822.3(KCNT1):c.30G>T (p.Pro10=) rs139034501
NM_020822.3(KCNT1):c.3102C>T (p.Ala1034=) rs1176639976
NM_020822.3(KCNT1):c.3112A>G (p.Ile1038Val)
NM_020822.3(KCNT1):c.3119T>C (p.Ile1040Thr)
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp) rs772472766
NM_020822.3(KCNT1):c.3128C>G (p.Thr1043Arg)
NM_020822.3(KCNT1):c.3128C>T (p.Thr1043Ile)
NM_020822.3(KCNT1):c.3129A>G (p.Thr1043=)
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp) rs771326200
NM_020822.3(KCNT1):c.3134G>A (p.Ser1045Asn)
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) rs760000324
NM_020822.3(KCNT1):c.3145T>G (p.Ser1049Ala)
NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del) rs758292147
NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter) rs375749415
NM_020822.3(KCNT1):c.3156+14C>A
NM_020822.3(KCNT1):c.3156+15_3156+37del rs777726660
NM_020822.3(KCNT1):c.3156+15_3156+71del rs1564391620
NM_020822.3(KCNT1):c.3156+19G>A rs1364101045
NM_020822.3(KCNT1):c.3156+3T>C rs2131575984
NM_020822.3(KCNT1):c.3156+5T>C rs2131575991
NM_020822.3(KCNT1):c.3156+6G>C rs1474671973
NM_020822.3(KCNT1):c.3156+9G>A
NM_020822.3(KCNT1):c.3157-15C>G
NM_020822.3(KCNT1):c.3157-18C>A rs367695978
NM_020822.3(KCNT1):c.3157-18C>T
NM_020822.3(KCNT1):c.3157-20T>C rs774520067
NM_020822.3(KCNT1):c.3157-20T>G
NM_020822.3(KCNT1):c.3157C>T (p.Pro1053Ser) rs1833952592
NM_020822.3(KCNT1):c.3163G>T (p.Asp1055Tyr)
NM_020822.3(KCNT1):c.3165C>T (p.Asp1055=)
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr) rs1564392375
NM_020822.3(KCNT1):c.3173C>T (p.Ala1058Val) rs757774262
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=) rs2131577612
NM_020822.3(KCNT1):c.3176A>G (p.Gln1059Arg)
NM_020822.3(KCNT1):c.3177+12del rs749581375
NM_020822.3(KCNT1):c.3177+15C>T
NM_020822.3(KCNT1):c.3177+16G>T
NM_020822.3(KCNT1):c.3177+6C>T
NM_020822.3(KCNT1):c.3177+9C>A rs781750496
NM_020822.3(KCNT1):c.3177_3177+22dup rs1833953810
NM_020822.3(KCNT1):c.3178-12_3180dup
NM_020822.3(KCNT1):c.3178-14C>T
NM_020822.3(KCNT1):c.3178-19C>T
NM_020822.3(KCNT1):c.3178-1G>A
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.3178-26GCCCT[6] rs757968008
NM_020822.3(KCNT1):c.3178-5_3178-1dup rs772240955
NM_020822.3(KCNT1):c.3178-6_3178-5insT
NM_020822.3(KCNT1):c.3178-7T>A
NM_020822.3(KCNT1):c.3178-7_3180dup
NM_020822.3(KCNT1):c.3178T>C (p.Ser1060Pro)
NM_020822.3(KCNT1):c.3179C>T (p.Ser1060Phe) rs758653391
NM_020822.3(KCNT1):c.3183G>A (p.Gln1061=)
NM_020822.3(KCNT1):c.3184_3210dup (p.Glu1070_Asp1071insIleSerValAsnValGluAspCysGlu)
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr) rs1588407407
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu) rs1161728281
NM_020822.3(KCNT1):c.3189G>A (p.Ser1063=)
NM_020822.3(KCNT1):c.3189G>C (p.Ser1063=) rs777914546
NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=) rs777914546
NM_020822.3(KCNT1):c.3198G>A (p.Val1066=)
NM_020822.3(KCNT1):c.3202G>A (p.Asp1068Asn) rs1834036491
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser) rs781225639
NM_020822.3(KCNT1):c.3206G>A (p.Cys1069Tyr)
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3218G>A (p.Arg1073Gln)
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro) rs747837141
NM_020822.3(KCNT1):c.3219G>A (p.Arg1073=)
NM_020822.3(KCNT1):c.3225G>A (p.Val1075=)
NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser) rs1834038347
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly) rs776232246
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) rs917893164
NM_020822.3(KCNT1):c.324C>A (p.Asn108Lys)
NM_020822.3(KCNT1):c.3254C>T (p.Thr1085Ile)
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp) rs1834040486
NM_020822.3(KCNT1):c.3281C>G (p.Thr1094Arg)
NM_020822.3(KCNT1):c.3290G>T (p.Gly1097Val)
NM_020822.3(KCNT1):c.3294C>T (p.Asp1098=)
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3299C>T (p.Ala1100Val)
NM_020822.3(KCNT1):c.3306C>A (p.His1102Gln)
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr) rs1347095932
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp) rs542409033
NM_020822.3(KCNT1):c.3318G>A (p.Arg1106=) rs2131582189
NM_020822.3(KCNT1):c.3318_3320dup (p.Arg1107_Lys1108insArg)
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn) rs1588407944
NM_020822.3(KCNT1):c.3327C>T (p.Ser1109=)
NM_020822.3(KCNT1):c.3328C>T (p.Leu1110=)
NM_020822.3(KCNT1):c.3333G>A (p.Gln1111=) rs960008558
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.3339C>A (p.Ala1113=)
NM_020822.3(KCNT1):c.334+10G>C
NM_020822.3(KCNT1):c.334+12G>A
NM_020822.3(KCNT1):c.334+13C>G
NM_020822.3(KCNT1):c.334+14C>G rs2131408140
NM_020822.3(KCNT1):c.334+16G>A
NM_020822.3(KCNT1):c.334+7G>A rs1057522631
NM_020822.3(KCNT1):c.334+8G>A
NM_020822.3(KCNT1):c.334+8_334+12del
NM_020822.3(KCNT1):c.3340C>G (p.Arg1114Gly) rs370085077
NM_020822.3(KCNT1):c.3346C>A (p.Leu1116Met)
NM_020822.3(KCNT1):c.335-14T>C
NM_020822.3(KCNT1):c.335-14T>G
NM_020822.3(KCNT1):c.335-17C>A rs764048972
NM_020822.3(KCNT1):c.335-17C>T
NM_020822.3(KCNT1):c.335-5C>A rs745658927
NM_020822.3(KCNT1):c.3352C>T (p.Arg1118Cys)
NM_020822.3(KCNT1):c.3354C>T (p.Arg1118=)
NM_020822.3(KCNT1):c.3356A>C (p.Lys1119Thr)
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
NM_020822.3(KCNT1):c.3369G>A (p.Gln1123=) rs2131582485
NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp) rs1316682933
NM_020822.3(KCNT1):c.3374G>C (p.Gly1125Ala)
NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr) rs1834052820
NM_020822.3(KCNT1):c.3385G>T (p.Ala1129Ser)
NM_020822.3(KCNT1):c.3387C>G (p.Ala1129=) rs372410150
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser) rs138421850
NM_020822.3(KCNT1):c.3389C>T (p.Ala1130Val)
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln) rs1588309597
NM_020822.3(KCNT1):c.3391G>A (p.Glu1131Lys) rs2131582676
NM_020822.3(KCNT1):c.3396G>T (p.Trp1132Cys)
NM_020822.3(KCNT1):c.3397A>T (p.Ile1133Phe) rs1408375707
NM_020822.3(KCNT1):c.3409C>A (p.Arg1137Ser)
NM_020822.3(KCNT1):c.3412C>A (p.Leu1138Ile)
NM_020822.3(KCNT1):c.3417C>T (p.Ser1139=)
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met) rs1237797436
NM_020822.3(KCNT1):c.3418C>T (p.Leu1140=)
NM_020822.3(KCNT1):c.3419T>A (p.Leu1140Gln) rs774987263
NM_020822.3(KCNT1):c.3420G>A (p.Leu1140=)
NM_020822.3(KCNT1):c.3426G>A (p.Arg1142=)
NM_020822.3(KCNT1):c.3427C>A (p.Arg1143Ser) rs760923308
NM_020822.3(KCNT1):c.3427C>T (p.Arg1143Cys)
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.3(KCNT1):c.3430T>C (p.Ser1144Pro) rs2131582898
NM_020822.3(KCNT1):c.3433G>A (p.Glu1145Lys)
NM_020822.3(KCNT1):c.3441G>C (p.Gln1147His)
NM_020822.3(KCNT1):c.3451G>C (p.Glu1151Gln)
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val) rs1834060931
NM_020822.3(KCNT1):c.3461A>G (p.Lys1154Arg) rs779810960
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr) rs1283268556
NM_020822.3(KCNT1):c.3464A>G (p.Asn1155Ser)
NM_020822.3(KCNT1):c.3466C>T (p.Arg1156Cys)
NM_020822.3(KCNT1):c.3478C>T (p.Leu1160=)
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala) rs549276113
NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile) rs748679465
NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser) rs1445337149
NM_020822.3(KCNT1):c.3502+12C>G rs367727105
NM_020822.3(KCNT1):c.3502+14G>A
NM_020822.3(KCNT1):c.3502+15C>T
NM_020822.3(KCNT1):c.3502+9A>G rs2131583276
NM_020822.3(KCNT1):c.3503-10T>C
NM_020822.3(KCNT1):c.3503-19C>T
NM_020822.3(KCNT1):c.3503-7T>A rs559088025
NM_020822.3(KCNT1):c.3513C>T (p.Asn1171=) rs1206106180
NM_020822.3(KCNT1):c.3514G>A (p.Asp1172Asn)
NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup) rs1290067674
NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys) rs139454881
NM_020822.3(KCNT1):c.3526A>G (p.Thr1176Ala)
NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val) rs1474508355
NM_020822.3(KCNT1):c.3529C>T (p.Leu1177Phe)
NM_020822.3(KCNT1):c.3534C>A (p.Ser1178=) rs1588422518
NM_020822.3(KCNT1):c.3540C>T (p.Val1180=) rs185469582
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu) rs1161862851
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3558C>A (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3559G>A (p.Asp1187Asn)
NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His) rs142875411
NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu) rs773695396
NM_020822.3(KCNT1):c.3564G>C (p.Thr1188=) rs530040739
NM_020822.3(KCNT1):c.3564G>T (p.Thr1188=)
NM_020822.3(KCNT1):c.3567G>A (p.Arg1189=) rs2131604834
NM_020822.3(KCNT1):c.3570G>A (p.Leu1190=) rs1247173859
NM_020822.3(KCNT1):c.3574C>T (p.Pro1192Ser) rs1445788992
NM_020822.3(KCNT1):c.3579T>G (p.Ser1193Arg)
NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys) rs1831125430
NM_020822.3(KCNT1):c.3581A>G (p.Asp1194Gly) rs2131604934
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
NM_020822.3(KCNT1):c.3587+12C>T
NM_020822.3(KCNT1):c.3587+13_3587+44del rs1426064441
NM_020822.3(KCNT1):c.3588-10C>T
NM_020822.3(KCNT1):c.3588-13_3588-12del rs2131605777
NM_020822.3(KCNT1):c.3588-14G>A
NM_020822.3(KCNT1):c.3588-9C>T rs2131605802
NM_020822.3(KCNT1):c.35dup (p.Val13fs) rs1835063072
NM_020822.3(KCNT1):c.3600C>G (p.Arg1200=)
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=) rs144658404
NM_020822.3(KCNT1):c.3601T>A (p.Ser1201Thr)
NM_020822.3(KCNT1):c.3601T>C (p.Ser1201Pro)
NM_020822.3(KCNT1):c.3603C>A (p.Ser1201=) rs769180686
NM_020822.3(KCNT1):c.3603C>T (p.Ser1201=) rs769180686
NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu) rs140628824
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His) rs762025166
NM_020822.3(KCNT1):c.360C>G (p.Phe120Leu)
NM_020822.3(KCNT1):c.3614C>G (p.Ala1205Gly)
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr) rs1564402008
NM_020822.3(KCNT1):c.3624C>T (p.Ala1208=) rs1372740051
NM_020822.3(KCNT1):c.3630C>A (p.Ser1210Arg)
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys) rs1554782444
NM_020822.3(KCNT1):c.3634C>T (p.Gln1212Ter)
NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg) rs1834583130
NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=) rs1834583279
NM_020822.3(KCNT1):c.3649A>G (p.Ser1217Gly) rs2131606216
NM_020822.3(KCNT1):c.364C>T (p.Leu122=) rs2131411142
NM_020822.3(KCNT1):c.3650G>T (p.Ser1217Ile)
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr) rs758465935
NM_020822.3(KCNT1):c.3661A>G (p.Lys1221Glu)
NM_020822.3(KCNT1):c.3662A>G (p.Lys1221Arg) rs1834585051
NM_020822.3(KCNT1):c.3666GTC[1] (p.Ser1224del)
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=) rs556454353
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
NM_020822.3(KCNT1):c.3679_3690del (p.Pro1227_Arg1230del)
NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
NM_020822.3(KCNT1):c.3696G>C (p.Glu1232Asp)
NM_020822.3(KCNT1):c.3699A>C (p.Thr1233=) rs750109650
NM_020822.3(KCNT1):c.3699A>G (p.Thr1233=)
NM_020822.3(KCNT1):c.36C>G (p.Gly12=) rs1442852201
NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs) rs1834589533
NM_020822.3(KCNT1):c.372G>A (p.Leu124=) rs1398608504
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.38T>C (p.Val13Ala) rs764111643
NM_020822.3(KCNT1):c.394G>A (p.Val132Met)
NM_020822.3(KCNT1):c.397C>T (p.Arg133Cys)
NM_020822.3(KCNT1):c.399C>A (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.399C>T (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.400G>T (p.Val134Phe) rs766663683
NM_020822.3(KCNT1):c.402C>G (p.Val134=)
NM_020822.3(KCNT1):c.406C>T (p.Leu136Phe)
NM_020822.3(KCNT1):c.416C>T (p.Pro139Leu)
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.417G>C (p.Pro139=)
NM_020822.3(KCNT1):c.419C>T (p.Ala140Val) rs2131411420
NM_020822.3(KCNT1):c.426C>T (p.Gly142=)
NM_020822.3(KCNT1):c.427A>G (p.Ile143Val)
NM_020822.3(KCNT1):c.429C>A (p.Ile143=) rs767429133
NM_020822.3(KCNT1):c.433T>C (p.Cys145Arg)
NM_020822.3(KCNT1):c.434+10G>C rs187872786
NM_020822.3(KCNT1):c.434+14G>A
NM_020822.3(KCNT1):c.434+16G>A rs560535799
NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr) rs1831132002
NM_020822.3(KCNT1):c.435-10C>T rs2131422803
NM_020822.3(KCNT1):c.435-17G>C
NM_020822.3(KCNT1):c.435-18C>T rs1057523539
NM_020822.3(KCNT1):c.44G>A (p.Arg15Gln) rs373446490
NM_020822.3(KCNT1):c.451C>G (p.Gln151Glu)
NM_020822.3(KCNT1):c.457T>C (p.Tyr153His) rs757995472
NM_020822.3(KCNT1):c.464T>C (p.Phe155Ser)
NM_020822.3(KCNT1):c.46G>A (p.Glu16Lys)
NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln) rs1835063926
NM_020822.3(KCNT1):c.476C>T (p.Ser159Phe) rs2131422984
NM_020822.3(KCNT1):c.488A>G (p.Asn163Ser)
NM_020822.3(KCNT1):c.491+18C>G rs748233532
NM_020822.3(KCNT1):c.491+18C>T
NM_020822.3(KCNT1):c.491+7C>T rs538968704
NM_020822.3(KCNT1):c.492-10C>G
NM_020822.3(KCNT1):c.492-14C>G
NM_020822.3(KCNT1):c.492-15C>T
NM_020822.3(KCNT1):c.492-19G>A
NM_020822.3(KCNT1):c.492-3C>A rs1831398385
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr) rs149908455
NM_020822.3(KCNT1):c.497C>T (p.Pro166Leu)
NM_020822.3(KCNT1):c.498T>C (p.Pro166=) rs1402179280
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser) rs748898708
NM_020822.3(KCNT1):c.504G>A (p.Leu168=) rs1588317741
NM_020822.3(KCNT1):c.504G>C (p.Leu168=)
NM_020822.3(KCNT1):c.513G>A (p.Glu171=)
NM_020822.3(KCNT1):c.513_516del (p.Arg172_Lys173insTer) rs1831399744
NM_020822.3(KCNT1):c.518A>G (p.Lys173Arg) rs1028292080
NM_020822.3(KCNT1):c.51G>A (p.Ala17=)
NM_020822.3(KCNT1):c.524C>T (p.Thr175Ile)
NM_020822.3(KCNT1):c.526C>T (p.Leu176=) rs1395075330
NM_020822.3(KCNT1):c.528G>A (p.Leu176=) rs2131427169
NM_020822.3(KCNT1):c.534G>A (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.534G>C (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.53G>A (p.Arg18His) rs753714293
NM_020822.3(KCNT1):c.540+14C>T
NM_020822.3(KCNT1):c.540+23del rs759524379
NM_020822.3(KCNT1):c.540G>A (p.Gln180=)
NM_020822.3(KCNT1):c.541-14T>C
NM_020822.3(KCNT1):c.541-16C>A
NM_020822.3(KCNT1):c.541-16C>T
NM_020822.3(KCNT1):c.541-17C>T
NM_020822.3(KCNT1):c.541-7C>A rs1489319809
NM_020822.3(KCNT1):c.54C>A (p.Arg18=)
NM_020822.3(KCNT1):c.54C>G (p.Arg18=) rs754697766
NM_020822.3(KCNT1):c.54C>T (p.Arg18=) rs754697766
NM_020822.3(KCNT1):c.553A>G (p.Ile185Val) rs2131434707
NM_020822.3(KCNT1):c.555A>G (p.Ile185Met) rs1588321846
NM_020822.3(KCNT1):c.556A>G (p.Ile186Val) rs1831515095
NM_020822.3(KCNT1):c.558A>G (p.Ile186Met)
NM_020822.3(KCNT1):c.55G>C (p.Gly19Arg)
NM_020822.3(KCNT1):c.56_75dup (p.Thr26fs)
NM_020822.3(KCNT1):c.572C>T (p.Thr191Met) rs1429039180
NM_020822.3(KCNT1):c.573G>A (p.Thr191=) rs375310989
NM_020822.3(KCNT1):c.573G>C (p.Thr191=) rs375310989
NM_020822.3(KCNT1):c.57C>G (p.Gly19=)
NM_020822.3(KCNT1):c.57C>T (p.Gly19=) rs1245480933
NM_020822.3(KCNT1):c.582C>T (p.Leu194=)
NM_020822.3(KCNT1):c.588C>T (p.Tyr196=) rs2131434951
NM_020822.3(KCNT1):c.589C>T (p.Leu197Phe)
NM_020822.3(KCNT1):c.58G>C (p.Gly20Arg) rs2131304181
NM_020822.3(KCNT1):c.593G>C (p.Ser198Thr)
NM_020822.3(KCNT1):c.600+11G>A rs375220600
NM_020822.3(KCNT1):c.600+11G>T
NM_020822.3(KCNT1):c.600+12C>T
NM_020822.3(KCNT1):c.600+14C>T
NM_020822.3(KCNT1):c.600+15G>A
NM_020822.3(KCNT1):c.600+16G>A rs764442404
NM_020822.3(KCNT1):c.600+17G>A rs1182136206
NM_020822.3(KCNT1):c.600+3G>A
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.600+8C>T rs1588321982
NM_020822.3(KCNT1):c.601-13C>T rs202113794
NM_020822.3(KCNT1):c.601-13del
NM_020822.3(KCNT1):c.601-14C>T
NM_020822.3(KCNT1):c.601-17C>T
NM_020822.3(KCNT1):c.601-18C>A
NM_020822.3(KCNT1):c.601-18C>T rs762196150
NM_020822.3(KCNT1):c.60_75del (p.Gly21fs) rs2131304179
NM_020822.3(KCNT1):c.612G>T (p.Trp204Cys)
NM_020822.3(KCNT1):c.615G>A (p.Glu205=)
NM_020822.3(KCNT1):c.616C>T (p.Gln206Ter) rs1192150242
NM_020822.3(KCNT1):c.616_618del (p.Gln206del)
NM_020822.3(KCNT1):c.619A>G (p.Ile207Val)
NM_020822.3(KCNT1):c.621C>A (p.Ile207=) rs1185207674
NM_020822.3(KCNT1):c.626G>T (p.Arg209Leu)
NM_020822.3(KCNT1):c.627C>T (p.Arg209=) rs1417508265
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp) rs368870705
NM_020822.3(KCNT1):c.62del (p.Gly21fs)
NM_020822.3(KCNT1):c.648G>A (p.Met216Ile)
NM_020822.3(KCNT1):c.651C>G (p.Ile217Met) rs1217512521
NM_020822.3(KCNT1):c.654C>T (p.Asn218=)
NM_020822.3(KCNT1):c.658C>G (p.Leu220Val)
NM_020822.3(KCNT1):c.672C>T (p.Ile224=)
NM_020822.3(KCNT1):c.675+11C>A
NM_020822.3(KCNT1):c.675+12C>G rs1322006932
NM_020822.3(KCNT1):c.675+15G>T rs1171483239
NM_020822.3(KCNT1):c.675+17_676-22del
NM_020822.3(KCNT1):c.676-11C>A
NM_020822.3(KCNT1):c.676-14T>C
NM_020822.3(KCNT1):c.676-18G>A
NM_020822.3(KCNT1):c.67A>C (p.Thr23Pro)
NM_020822.3(KCNT1):c.686C>T (p.Pro229Leu)
NM_020822.3(KCNT1):c.694C>T (p.Arg232Trp)
NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)
NM_020822.3(KCNT1):c.700C>T (p.Leu234=) rs1831563332
NM_020822.3(KCNT1):c.701T>A (p.Leu234Gln) rs201583448
NM_020822.3(KCNT1):c.702G>A (p.Leu234=) rs2131438438
NM_020822.3(KCNT1):c.704del (p.Phe235fs) rs1187172120
NM_020822.3(KCNT1):c.70A>C (p.Asn24His)
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.711C>T (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.720G>C (p.Leu240=) rs2131438525
NM_020822.3(KCNT1):c.73C>A (p.Arg25=)
NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
NM_020822.3(KCNT1):c.744G>T (p.Ala248=)
NM_020822.3(KCNT1):c.747G>A (p.Leu249=)
NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)
NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro) rs764163914
NM_020822.3(KCNT1):c.752del (p.Asn251fs)
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.3(KCNT1):c.759+10G>A rs1378294661
NM_020822.3(KCNT1):c.759+11G>T
NM_020822.3(KCNT1):c.759+12C>T
NM_020822.3(KCNT1):c.759+13G>C rs375237065
NM_020822.3(KCNT1):c.759+13G>T
NM_020822.3(KCNT1):c.759+14G>C rs2131438888
NM_020822.3(KCNT1):c.759+16G>A rs1362410976
NM_020822.3(KCNT1):c.759+18G>A rs748532863
NM_020822.3(KCNT1):c.759+18G>T
NM_020822.3(KCNT1):c.759+18del
NM_020822.3(KCNT1):c.759+18dup
NM_020822.3(KCNT1):c.760-13A>T
NM_020822.3(KCNT1):c.760-18C>T
NM_020822.3(KCNT1):c.760-20A>T
NM_020822.3(KCNT1):c.760-4A>C rs2131444316
NM_020822.3(KCNT1):c.760-4A>G rs2131444316
NM_020822.3(KCNT1):c.760-9C>T rs1554771446
NM_020822.3(KCNT1):c.763G>A (p.Asp255Asn)
NM_020822.3(KCNT1):c.763del (p.Asp255fs) rs755630818
NM_020822.3(KCNT1):c.768C>T (p.Phe256=) rs1422265516
NM_020822.3(KCNT1):c.772C>T (p.Arg258Cys)
NM_020822.3(KCNT1):c.773G>A (p.Arg258His)
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr) rs1831666357
NM_020822.3(KCNT1):c.775G>T (p.Ala259Ser)
NM_020822.3(KCNT1):c.779T>C (p.Ile260Thr)
NM_020822.3(KCNT1):c.781C>T (p.Leu261=) rs1588327182
NM_020822.3(KCNT1):c.784C>A (p.Arg262=)
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.790C>A (p.Gln264Lys)
NM_020822.3(KCNT1):c.790C>T (p.Gln264Ter)
NM_020822.3(KCNT1):c.793_796del (p.Ser265fs) rs764041770
NM_020822.3(KCNT1):c.797C>T (p.Ala266Val) rs1341175923
NM_020822.3(KCNT1):c.7C>T (p.Leu3Phe)
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
NM_020822.3(KCNT1):c.814C>A (p.Leu272Ile) rs757884130
NM_020822.3(KCNT1):c.814C>T (p.Leu272Phe)
NM_020822.3(KCNT1):c.816C>T (p.Leu272=) rs764531029
NM_020822.3(KCNT1):c.817A>G (p.Ile273Val)
NM_020822.3(KCNT1):c.819C>G (p.Ile273Met)
NM_020822.3(KCNT1):c.81C>A (p.Phe27Leu)
NM_020822.3(KCNT1):c.825C>G (p.Phe275Leu)
NM_020822.3(KCNT1):c.825C>T (p.Phe275=)
NM_020822.3(KCNT1):c.82_84del (p.Glu28del)
NM_020822.3(KCNT1):c.839G>A (p.Cys280Tyr) rs1160972448
NM_020822.3(KCNT1):c.844G>A (p.Val282Ile)
NM_020822.3(KCNT1):c.852G>T (p.Thr284=)
NM_020822.3(KCNT1):c.854+13C>T
NM_020822.3(KCNT1):c.855-10G>A rs1057521940
NM_020822.3(KCNT1):c.855-4G>T
NM_020822.3(KCNT1):c.855-7G>A rs768046676
NM_020822.3(KCNT1):c.855-9G>A
NM_020822.3(KCNT1):c.855G>C (p.Gly285=)
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu) rs1406826181
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys) rs587777264
NM_020822.3(KCNT1):c.864C>T (p.Gly288=)
NM_020822.3(KCNT1):c.880C>A (p.Arg294=)
NM_020822.3(KCNT1):c.881G>A (p.Arg294Gln)
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser) rs1831777941
NM_020822.3(KCNT1):c.895C>T (p.Leu299=) rs2131450994
NM_020822.3(KCNT1):c.897G>A (p.Leu299=) rs1197592007
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) rs1564356207
NM_020822.3(KCNT1):c.899C>T (p.Ser300Phe)
NM_020822.3(KCNT1):c.908C>T (p.Thr303Ile)
NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr) rs1060503697
NM_020822.3(KCNT1):c.914T>C (p.Phe305Ser)
NM_020822.3(KCNT1):c.91G>T (p.Asp31Tyr) rs766377529
NM_020822.3(KCNT1):c.921C>T (p.Phe307=) rs878855057
NM_020822.3(KCNT1):c.927C>T (p.Ile309=)
NM_020822.3(KCNT1):c.943G>A (p.Val315Met)
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser) rs1831783786
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met) rs1588330851
NM_020822.3(KCNT1):c.963G>C (p.Thr321=) rs760300415
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) rs978227077
NM_020822.3(KCNT1):c.971T>A (p.Ile324Asn) rs2131451388
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) rs1831785244
NM_020822.3(KCNT1):c.973T>G (p.Trp325Gly)
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu) rs777106178
NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu) rs1340962392
NM_020822.3(KCNT1):c.997A>T (p.Ile333Phe)
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met) rs764327750
NM_020822.3(KCNT1):c.9C>T (p.Leu3=) rs768423949

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