ClinVar Miner

List of variants in gene KCNT1 reported as likely benign for malignant migrating partial seizures of infancy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1086
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HGVS dbSNP gnomAD frequency
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.1533G>A (p.Glu511=) rs151080601 0.00325
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
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.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458 0.00122
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
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.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.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.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.2070C>T (p.Gly690=) rs370155559 0.00041
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
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.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.2008+7C>T rs372707698 0.00030
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.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.3694G>A (p.Glu1232Lys) rs138109494 0.00023
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.2454C>T (p.Ile818=) rs149452823 0.00019
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.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.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.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.1827C>T (p.Asn609=) rs142534422 0.00012
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108 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.2673C>T (p.Ala891=) rs373503298 0.00011
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242 0.00011
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472 0.00010
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738 0.00010
NM_020822.3(KCNT1):c.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.2052G>A (p.Thr684=) rs376314779 0.00009
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138 0.00009
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn) rs376758763 0.00009
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695 0.00009
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306 0.00008
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299 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.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.2856T>C (p.Asn952=) rs147671362 0.00007
NM_020822.3(KCNT1):c.2944-17C>T rs1255015458 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.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.1962C>T (p.His654=) rs141759469 0.00006
NM_020822.3(KCNT1):c.2152G>A (p.Asp718Asn) rs777958749 0.00006
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=) rs765403435 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.335-4G>A rs372339395 0.00006
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309 0.00006
NM_020822.3(KCNT1):c.3502+1584G>A rs759235951 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.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.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.335-5C>T rs745658927 0.00005
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 0.00005
NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile) rs143015526 0.00005
NM_020822.3(KCNT1):c.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.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.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.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.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.3579T>A (p.Ser1193Arg) rs142340167 0.00004
NM_020822.3(KCNT1):c.3588-4G>A rs754639389 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.1201-16T>C rs1057521711 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.1806C>T (p.Asp602=) rs1060505001 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.2201A>G (p.Asp734Gly) rs1360863995 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.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.600+9C>T rs1287458024 0.00003
NM_020822.3(KCNT1):c.60G>A (p.Gly20=) rs777349172 0.00003
NM_020822.3(KCNT1):c.732G>A (p.Leu244=) rs759580596 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.1077A>G (p.Ser359=) rs777409717 0.00002
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440 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.1359C>T (p.Cys453=) rs1455107112 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.16G>A (p.Gly6Arg) rs773874266 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.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.1947G>A (p.Ser649=) rs779903423 0.00002
NM_020822.3(KCNT1):c.2008+9G>T rs375088109 0.00002
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485 0.00002
NM_020822.3(KCNT1):c.219G>A (p.Leu73=) rs758602991 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.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.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.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.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.626G>A (p.Arg209His) rs756952430 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.10C>T (p.Pro4Ser) rs778405770 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.1113G>A (p.Glu371=) rs1217096141 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.1337+17G>A rs780243563 0.00001
NM_020822.3(KCNT1):c.1337+19A>G rs1373490805 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.1401+9G>A rs1260793909 0.00001
NM_020822.3(KCNT1):c.1402-8C>T rs1303785635 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.1511-5C>T rs546333402 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.1605C>T (p.His535=) rs1339025046 0.00001
NM_020822.3(KCNT1):c.1608G>A (p.Thr536=) rs768778333 0.00001
NM_020822.3(KCNT1):c.1620-13C>T rs1255165614 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.1746C>T (p.Tyr582=) rs763438119 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.1812G>A (p.Lys604=) rs754003723 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.1938G>T (p.Arg646Ser) rs753543470 0.00001
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg) rs1022928641 0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) rs770039542 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.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.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.2069G>A (p.Gly690Asp) rs777827895 0.00001
NM_020822.3(KCNT1):c.20del (p.Ala7fs) rs757568103 0.00001
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689 0.00001
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=) rs755266973 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.222G>T (p.Leu74=) rs573574312 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.2350-3C>T rs776607977 0.00001
NM_020822.3(KCNT1):c.2350-5C>T rs965133345 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.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.2694C>T (p.Asp898=) rs369904278 0.00001
NM_020822.3(KCNT1):c.2715G>A (p.Val905=) rs771377696 0.00001
NM_020822.3(KCNT1):c.2729+15C>T rs200624821 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.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.2865C>T (p.Asn955=) rs142596339 0.00001
NM_020822.3(KCNT1):c.2904C>T (p.Arg968=) rs986294962 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.2997C>T (p.Asp999=) rs771951768 0.00001
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=) rs1209287528 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.3028-16G>A rs1236949709 0.00001
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066 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.3105G>A (p.Glu1035=) rs1833915179 0.00001
NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=) rs370878235 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.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.3319C>T (p.Arg1107Cys) rs750627411 0.00001
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=) rs768977873 0.00001
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly) rs1332070255 0.00001
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=) rs1373486252 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.3503-15C>T rs373596158 0.00001
NM_020822.3(KCNT1):c.3503-16G>C rs1343359299 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.3582C>T (p.Asp1194=) rs1375394882 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.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.3664C>T (p.Leu1222=) rs755694160 0.00001
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=) rs758617654 0.00001
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser) rs750374521 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.47A>T (p.Glu16Val) rs755980218 0.00001
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys) rs770108075 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.546C>T (p.Ile182=) rs778118549 0.00001
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser) rs778657830 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 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.741C>T (p.His247=) rs1218041775 0.00001
NM_020822.3(KCNT1):c.759+11G>A rs1376011545 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.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
NC_000009.11:g.(?_138606403)_(138606586_?)del
NC_000009.11:g.(?_138606413)_(138606576_?)del
NM_020822.3(KCNT1):c.1011G>A (p.Val337=) rs1831789283
NM_020822.3(KCNT1):c.1017C>T (p.Leu339=)
NM_020822.3(KCNT1):c.1020G>A (p.Val340=) rs749129414
NM_020822.3(KCNT1):c.1029A>G (p.Pro343=)
NM_020822.3(KCNT1):c.1032G>A (p.Leu344=) rs1057521705
NM_020822.3(KCNT1):c.1035+12G>A
NM_020822.3(KCNT1):c.1035+14G>A
NM_020822.3(KCNT1):c.1035+20G>A
NM_020822.3(KCNT1):c.1035+22_1035+37dup
NM_020822.3(KCNT1):c.1035+7C>A
NM_020822.3(KCNT1):c.1036-8del rs766451840
NM_020822.3(KCNT1):c.1036-9C>T
NM_020822.3(KCNT1):c.1080G>C (p.Gly360=)
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.110+11C>T
NM_020822.3(KCNT1):c.110+16C>A
NM_020822.3(KCNT1):c.110+7T>A
NM_020822.3(KCNT1):c.110+9T>G
NM_020822.3(KCNT1):c.111-11dup
NM_020822.3(KCNT1):c.111-12G>C rs768967168
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.1128G>A (p.Leu376=)
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=) rs756900818
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+17T>C
NM_020822.3(KCNT1):c.1200+8C>G
NM_020822.3(KCNT1):c.1201-17C>G
NM_020822.3(KCNT1):c.1201-4G>A rs2131477231
NM_020822.3(KCNT1):c.1215C>A (p.Val405=)
NM_020822.3(KCNT1):c.1218C>T (p.Ile406=)
NM_020822.3(KCNT1):c.123G>A (p.Ala41=) rs1352859989
NM_020822.3(KCNT1):c.1251C>G (p.Arg417=)
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.1284G>A (p.Arg428=) rs943112493
NM_020822.3(KCNT1):c.1287C>A (p.Val429=)
NM_020822.3(KCNT1):c.1287C>T (p.Val429=)
NM_020822.3(KCNT1):c.1296C>G (p.Leu432=) rs1057524172
NM_020822.3(KCNT1):c.129C>T (p.Asp43=)
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr) rs1832220041
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.1326C>T (p.Leu442=) rs200910140
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1335C>T (p.Ala445=) rs751944320
NM_020822.3(KCNT1):c.1337+12T>A
NM_020822.3(KCNT1):c.1337+15G>A
NM_020822.3(KCNT1):c.1337+9T>C
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.1338-7A>G
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.139C>T (p.Leu47=) rs2131329270
NM_020822.3(KCNT1):c.1401+17C>T
NM_020822.3(KCNT1):c.1401+7G>A rs2131496908
NM_020822.3(KCNT1):c.1402-13C>T
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.1434G>A (p.Val478=)
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=) rs2131497788
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.147C>G (p.Thr49=)
NM_020822.3(KCNT1):c.1488C>T (p.Asn496=)
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+18G>A
NM_020822.3(KCNT1):c.1510+31_1510+70del rs780670028
NM_020822.3(KCNT1):c.1510+7C>T
NM_020822.3(KCNT1):c.1510+8T>C
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>T
NM_020822.3(KCNT1):c.1511-13C>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.152G>C (p.Gly51Ala) rs1554763393
NM_020822.3(KCNT1):c.1594C>T (p.Leu532=)
NM_020822.3(KCNT1):c.1596G>A (p.Leu532=)
NM_020822.3(KCNT1):c.1602G>A (p.Val534=) rs2131505379
NM_020822.3(KCNT1):c.1611C>G (p.Ser537=) rs2131505461
NM_020822.3(KCNT1):c.1619+12G>A
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+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1620-12C>T
NM_020822.3(KCNT1):c.1620-15C>G
NM_020822.3(KCNT1):c.1620-15_1620-5del rs761464076
NM_020822.3(KCNT1):c.1620-19G>A
NM_020822.3(KCNT1):c.1620-6C>T
NM_020822.3(KCNT1):c.1620-9G>C
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=) rs1832666302
NM_020822.3(KCNT1):c.165C>T (p.Ser55=)
NM_020822.3(KCNT1):c.1683G>A (p.Val561=) rs1253303573
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.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1695C>T (p.Arg565=)
NM_020822.3(KCNT1):c.1704C>T (p.Asp568=)
NM_020822.3(KCNT1):c.1713C>T (p.Phe571=)
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.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.1764C>T (p.His588=)
NM_020822.3(KCNT1):c.1769+10G>C
NM_020822.3(KCNT1):c.1769+11del rs2131508480
NM_020822.3(KCNT1):c.1769+15_1769+16inv
NM_020822.3(KCNT1):c.1769+16A>C
NM_020822.3(KCNT1):c.1769+19C>T
NM_020822.3(KCNT1):c.1769+20A>G rs1057524400
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.1770-7T>C
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.1794G>C (p.Leu598=) rs1588361953
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) rs773621687
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.1830G>C (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.1839G>T (p.Arg613=)
NM_020822.3(KCNT1):c.183G>A (p.Val61=)
NM_020822.3(KCNT1):c.1860C>T (p.Asp620=)
NM_020822.3(KCNT1):c.1875C>T (p.Ile625=)
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=) rs1554775088
NM_020822.3(KCNT1):c.1884C>A (p.Thr628=)
NM_020822.3(KCNT1):c.1884C>T (p.Thr628=)
NM_020822.3(KCNT1):c.1893G>A (p.Glu631=) rs2131511290
NM_020822.3(KCNT1):c.1911C>T (p.Phe637=)
NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)
NM_020822.3(KCNT1):c.1950G>T (p.Gly650=)
NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)
NM_020822.3(KCNT1):c.1956G>T (p.Gly652=)
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln) rs770039542
NM_020822.3(KCNT1):c.1980G>A (p.Leu660=)
NM_020822.3(KCNT1):c.198G>A (p.Pro66=)
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=) rs368777569
NM_020822.3(KCNT1):c.2001C>T (p.Ala667=)
NM_020822.3(KCNT1):c.2008+17G>A
NM_020822.3(KCNT1):c.2008+17G>C
NM_020822.3(KCNT1):c.2009-12G>A
NM_020822.3(KCNT1):c.2009-12G>C
NM_020822.3(KCNT1):c.2009-13G>T rs1391208726
NM_020822.3(KCNT1):c.2009-16C>T
NM_020822.3(KCNT1):c.2009-19G>A
NM_020822.3(KCNT1):c.2009-7C>T rs935840917
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.2064T>C (p.Gly688=)
NM_020822.3(KCNT1):c.2073G>A (p.Gly691=)
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.2109G>A (p.Ser703=) rs767200583
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=) rs2131521147
NM_020822.3(KCNT1):c.2130C>T (p.Ile710=) rs1832851605
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.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.2190C>T (p.Asp730=) rs2131521695
NM_020822.3(KCNT1):c.220C>T (p.Leu74=) rs943048769
NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)
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>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.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.2244-14G>A
NM_020822.3(KCNT1):c.2244-20G>A
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=) rs370521183
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=) rs2131535193
NM_020822.3(KCNT1):c.2325C>T (p.Pro775=)
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=) rs1588376018
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+8del rs748745850
NM_020822.3(KCNT1):c.234G>A (p.Pro78=)
NM_020822.3(KCNT1):c.2350-11T>C
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.2391G>A (p.Gly797=) rs2131543508
NM_020822.3(KCNT1):c.2397G>A (p.Lys799=)
NM_020822.3(KCNT1):c.240C>T (p.Phe80=) rs1554763398
NM_020822.3(KCNT1):c.2415C>G (p.Val805=)
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=) rs142726010
NM_020822.3(KCNT1):c.2433C>T (p.Gly811=)
NM_020822.3(KCNT1):c.2436T>C (p.Asn812=)
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.2466G>A (p.Arg822=)
NM_020822.3(KCNT1):c.2466G>T (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.2493G>A (p.Leu831=)
NM_020822.3(KCNT1):c.2499C>T (p.Pro833=)
NM_020822.3(KCNT1):c.2505G>A (p.Val835=)
NM_020822.3(KCNT1):c.2509C>T (p.Leu837=) rs2131544108
NM_020822.3(KCNT1):c.2522+12G>A
NM_020822.3(KCNT1):c.2522+15G>A rs1313134564
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.2523-12C>T rs1007419018
NM_020822.3(KCNT1):c.2523-14C>T
NM_020822.3(KCNT1):c.2523-7C>T rs1287735480
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.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.255-18C>T
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.2595-17C>G
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.2601C>T (p.Asp867=) rs1833360129
NM_020822.3(KCNT1):c.2610G>A (p.Leu870=)
NM_020822.3(KCNT1):c.2622C>T (p.Ile874=)
NM_020822.3(KCNT1):c.2628T>C (p.Tyr876=) rs2131549484
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=) rs1588384964
NM_020822.3(KCNT1):c.2643G>C (p.Val881=)
NM_020822.3(KCNT1):c.2646G>A (p.Val882=)
NM_020822.3(KCNT1):c.267G>A (p.Glu89=) rs917179079
NM_020822.3(KCNT1):c.2685C>T (p.Tyr895=)
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=) rs1588385244
NM_020822.3(KCNT1):c.2729+10G>A
NM_020822.3(KCNT1):c.2729+20C>T
NM_020822.3(KCNT1):c.2730-15G>T
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.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.2751C>T (p.Ile917=)
NM_020822.3(KCNT1):c.2754C>T (p.Thr918=)
NM_020822.3(KCNT1):c.2757G>C (p.Thr919=) rs775752475
NM_020822.3(KCNT1):c.2766C>G (p.Thr922=)
NM_020822.3(KCNT1):c.2775C>T (p.Ser925=)
NM_020822.3(KCNT1):c.2778C>T (p.Asn926=) rs1833435836
NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)
NM_020822.3(KCNT1):c.2799C>A (p.Arg933=)
NM_020822.3(KCNT1):c.2802C>T (p.Ala934=)
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
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+16C>T
NM_020822.3(KCNT1):c.2841+17C>T
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>A rs572059153
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.2847G>A (p.Glu949=) rs779429071
NM_020822.3(KCNT1):c.2862C>T (p.Ser954=) rs2131570981
NM_020822.3(KCNT1):c.2866C>T (p.Leu956=)
NM_020822.3(KCNT1):c.2884C>T (p.Leu962=)
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.2910C>T (p.Phe970=)
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=) rs878855056
NM_020822.3(KCNT1):c.2928C>T (p.Asp976=)
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.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.2944-18C>T
NM_020822.3(KCNT1):c.2944-19_2944-13del rs1487601601
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.2944-6G>C rs1452612792
NM_020822.3(KCNT1):c.2944-7_2944-6insCCCTGCCTCCCT
NM_020822.3(KCNT1):c.2944-8C>G
NM_020822.3(KCNT1):c.2944-8C>T
NM_020822.3(KCNT1):c.2946C>T (p.Ser982=) rs2131574304
NM_020822.3(KCNT1):c.2958C>T (p.Asp986=)
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.298C>A (p.Arg100=)
NM_020822.3(KCNT1):c.2992C>T (p.Leu998=)
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=) rs560435329
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+25_3027+29del
NM_020822.3(KCNT1):c.3027+8C>G
NM_020822.3(KCNT1):c.3028-10C>G rs2131575320
NM_020822.3(KCNT1):c.3028-5T>G rs755073132
NM_020822.3(KCNT1):c.3028-8C>T rs2131575328
NM_020822.3(KCNT1):c.3060C>T (p.Arg1020=)
NM_020822.3(KCNT1):c.3072C>G (p.Arg1024=)
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.3108C>T (p.Ile1036=)
NM_020822.3(KCNT1):c.3129A>G (p.Thr1043=)
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+17G>T
NM_020822.3(KCNT1):c.3156+19G>A rs1364101045
NM_020822.3(KCNT1):c.3156+7G>C
NM_020822.3(KCNT1):c.3156+9G>A
NM_020822.3(KCNT1):c.3157-15C>G
NM_020822.3(KCNT1):c.3157-17G>T
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.3165C>T (p.Asp1055=)
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=) rs2131577612
NM_020822.3(KCNT1):c.3177+10C>T
NM_020822.3(KCNT1):c.3177+15C>T
NM_020822.3(KCNT1):c.3177+16G>T
NM_020822.3(KCNT1):c.3177+9C>A rs781750496
NM_020822.3(KCNT1):c.3178-14C>T
NM_020822.3(KCNT1):c.3178-18C>T
NM_020822.3(KCNT1):c.3178-19C>T
NM_020822.3(KCNT1):c.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[6] rs757968008
NM_020822.3(KCNT1):c.3178-6_3178-5insT
NM_020822.3(KCNT1):c.3183G>A (p.Gln1061=)
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.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3218G>A (p.Arg1073Gln)
NM_020822.3(KCNT1):c.3219G>A (p.Arg1073=)
NM_020822.3(KCNT1):c.3225G>A (p.Val1075=)
NM_020822.3(KCNT1):c.3248C>T (p.Ala1083Val)
NM_020822.3(KCNT1):c.3254C>T (p.Thr1085Ile)
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp) rs1834040486
NM_020822.3(KCNT1):c.3294C>T (p.Asp1098=)
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.3318G>A (p.Arg1106=) rs2131582189
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.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+8_334+12del
NM_020822.3(KCNT1):c.335-10C>T
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.3354C>T (p.Arg1118=)
NM_020822.3(KCNT1):c.3369G>A (p.Gln1123=) rs2131582485
NM_020822.3(KCNT1):c.3387C>G (p.Ala1129=) rs372410150
NM_020822.3(KCNT1):c.3389C>T (p.Ala1130Val)
NM_020822.3(KCNT1):c.3417C>T (p.Ser1139=)
NM_020822.3(KCNT1):c.3418C>T (p.Leu1140=)
NM_020822.3(KCNT1):c.3426G>A (p.Arg1142=)
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.3(KCNT1):c.3438C>T (p.Arg1146=)
NM_020822.3(KCNT1):c.3459G>A (p.Val1153=)
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.3478C>T (p.Leu1160=)
NM_020822.3(KCNT1):c.3502+12C>A
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+8C>A
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.3503-20C>A
NM_020822.3(KCNT1):c.3503-7T>A rs559088025
NM_020822.3(KCNT1):c.3503-8C>T
NM_020822.3(KCNT1):c.3513C>T (p.Asn1171=) rs1206106180
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.3549C>T (p.Asn1183=)
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.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.3587+12C>T
NM_020822.3(KCNT1):c.3587+13T>C
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.3600C>G (p.Arg1200=)
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=) rs144658404
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.3622G>A (p.Ala1208Thr) rs1564402008
NM_020822.3(KCNT1):c.3624C>T (p.Ala1208=) rs1372740051
NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=) rs1834583279
NM_020822.3(KCNT1):c.364C>T (p.Leu122=) rs2131411142
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr) rs758465935
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=) rs556454353
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.372G>A (p.Leu124=) rs1398608504
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.402C>G (p.Val134=)
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.417G>C (p.Pro139=)
NM_020822.3(KCNT1):c.429C>A (p.Ile143=) rs767429133
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.434+16G>T
NM_020822.3(KCNT1):c.434+9C>T
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.450G>A (p.Lys150=)
NM_020822.3(KCNT1):c.474G>C (p.Ser158=)
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.497C>T (p.Pro166Leu)
NM_020822.3(KCNT1):c.498T>C (p.Pro166=) rs1402179280
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.51G>A (p.Ala17=)
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+7G>A
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.541-20T>C
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.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.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+8C>T rs1588321982
NM_020822.3(KCNT1):c.601-13C>T rs202113794
NM_020822.3(KCNT1):c.601-14C>T
NM_020822.3(KCNT1):c.601-15C>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.615G>A (p.Glu205=)
NM_020822.3(KCNT1):c.621C>A (p.Ile207=) rs1185207674
NM_020822.3(KCNT1):c.627C>T (p.Arg209=) rs1417508265
NM_020822.3(KCNT1):c.630G>A (p.Val210=)
NM_020822.3(KCNT1):c.654C>T (p.Asn218=)
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+9G>A
NM_020822.3(KCNT1):c.676-11C>A
NM_020822.3(KCNT1):c.676-14T>C
NM_020822.3(KCNT1):c.676-15C>T
NM_020822.3(KCNT1):c.676-18G>A
NM_020822.3(KCNT1):c.700C>T (p.Leu234=) rs1831563332
NM_020822.3(KCNT1):c.702G>A (p.Leu234=) rs2131438438
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.744G>T (p.Ala248=)
NM_020822.3(KCNT1):c.747G>A (p.Leu249=)
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.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.768C>T (p.Phe256=) rs1422265516
NM_020822.3(KCNT1):c.780C>T (p.Ile260=)
NM_020822.3(KCNT1):c.781C>T (p.Leu261=) rs1588327182
NM_020822.3(KCNT1):c.784C>A (p.Arg262=)
NM_020822.3(KCNT1):c.816C>T (p.Leu272=) rs764531029
NM_020822.3(KCNT1):c.825C>T (p.Phe275=)
NM_020822.3(KCNT1):c.852G>T (p.Thr284=)
NM_020822.3(KCNT1):c.854+13C>T
NM_020822.3(KCNT1):c.855-4G>T
NM_020822.3(KCNT1):c.855-7G>A rs768046676
NM_020822.3(KCNT1):c.864C>T (p.Gly288=)
NM_020822.3(KCNT1):c.880C>A (p.Arg294=)
NM_020822.3(KCNT1):c.894C>T (p.Asn298=)
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.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.94G>T (p.Gly32Cys) rs754823810
NM_020822.3(KCNT1):c.963G>C (p.Thr321=) rs760300415
NM_020822.3(KCNT1):c.9C>T (p.Leu3=) rs768423949

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