ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 740
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser) rs1201438079 0.00026
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00015
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322 0.00012
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=) rs745575483 0.00011
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=) rs758308334 0.00008
NM_020822.3(KCNT1):c.2482C>T (p.Arg828Cys) rs370800291 0.00007
NM_020822.3(KCNT1):c.2630C>T (p.Ala877Val) rs774033346 0.00006
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326 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.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.110+1G>C rs780331569 0.00005
NM_020822.3(KCNT1):c.1510+4C>T rs554828530 0.00005
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518 0.00005
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp) rs150447764 0.00005
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110 0.00004
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe) rs950983477 0.00004
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681 0.00004
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu) rs775923151 0.00004
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) rs748115007 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.3679C>T (p.Pro1227Ser) rs779262121 0.00004
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu) rs753714293 0.00004
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 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.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534 0.00003
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063 0.00003
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951 0.00003
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val) rs928555901 0.00002
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp) rs779209462 0.00002
NM_020822.3(KCNT1):c.1328T>C (p.Met443Thr) rs763557773 0.00002
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile) rs368322298 0.00002
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys) rs774249834 0.00002
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 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.1955G>T (p.Gly652Val) rs536588045 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.2199G>T (p.Glu733Asp) rs772800657 0.00002
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu) rs760032575 0.00002
NM_020822.3(KCNT1):c.254+6G>C rs923032212 0.00002
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His) rs776239808 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 0.00002
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103 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.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.712G>A (p.Val238Ile) rs760870883 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020822.3(KCNT1):c.1093C>T (p.Arg365Cys) rs751116785 0.00001
NM_020822.3(KCNT1):c.110+5A>G rs768926196 0.00001
NM_020822.3(KCNT1):c.1109C>T (p.Thr370Met) rs1284049151 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.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.1336A>C (p.Lys446Gln) rs144824627 0.00001
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser) rs1336529060 0.00001
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln) rs141311481 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.1498G>A (p.Val500Ile) rs778483249 0.00001
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met) rs905524850 0.00001
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile) rs753874335 0.00001
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571 0.00001
NM_020822.3(KCNT1):c.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.1664G>A (p.Arg555His) rs764477306 0.00001
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser) rs1220099278 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.1797G>T (p.Lys599Asn) rs762247965 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.191T>G (p.Leu64Trp) rs1564314603 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.1975C>T (p.Arg659Cys) rs753599140 0.00001
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573 0.00001
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) rs753401695 0.00001
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870 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.211C>T (p.Arg71Trp) rs755348603 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.2216C>T (p.Ser739Leu) rs1163455129 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.2339G>A (p.Arg780Gln) rs780759196 0.00001
NM_020822.3(KCNT1):c.2349+4A>G rs745399878 0.00001
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr) rs1466772062 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.2671G>A (p.Ala891Thr) rs752835491 0.00001
NM_020822.3(KCNT1):c.2713G>A (p.Val905Met) rs761134824 0.00001
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp) rs1249219901 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.2797C>T (p.Arg933Cys) rs150395210 0.00001
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403 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.2905G>A (p.Val969Ile) rs1216283172 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.299G>A (p.Arg100Gln) rs752032951 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.3027+1G>A rs756311140 0.00001
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=) rs371694148 0.00001
NM_020822.3(KCNT1):c.3046G>A (p.Asp1016Asn) rs779908455 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.3100G>A (p.Ala1034Thr) rs779961735 0.00001
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys) rs748937639 0.00001
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184 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.3284G>A (p.Gly1095Asp) rs1206215512 0.00001
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val) rs996610690 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.3371C>T (p.Ala1124Val) rs1381344367 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.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.3502+2dup rs1336283260 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.3571G>A (p.Glu1191Lys) rs1292390745 0.00001
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758 0.00001
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr) rs759561558 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.3668C>T (p.Ser1223Leu) rs779379200 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316 0.00001
NM_020822.3(KCNT1):c.398G>A (p.Arg133His) rs201295824 0.00001
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile) rs766663683 0.00001
NM_020822.3(KCNT1):c.425G>T (p.Gly142Val) rs1831131534 0.00001
NM_020822.3(KCNT1):c.473C>T (p.Ser158Leu) rs751075368 0.00001
NM_020822.3(KCNT1):c.494C>T (p.Ala165Val) rs1359744304 0.00001
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys) rs1238224961 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.566T>C (p.Leu189Pro) rs749194581 0.00001
NM_020822.3(KCNT1):c.600+5G>A rs770367654 0.00001
NM_020822.3(KCNT1):c.730C>T (p.Leu244=) rs376096546 0.00001
NM_020822.3(KCNT1):c.754A>C (p.Met252Leu) rs755782470 0.00001
NM_020822.3(KCNT1):c.759+6C>T rs1057522462 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.(?_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.1018G>A (p.Val340Met) rs558837964
NM_020822.3(KCNT1):c.1035+1G>A rs778538243
NM_020822.3(KCNT1):c.1036-3C>T
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.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.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.108del (p.Arg37fs)
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+3dup
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.111-15G>A
NM_020822.3(KCNT1):c.1115A>G (p.Lys372Arg) rs2131473824
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.113G>T (p.Arg38Leu)
NM_020822.3(KCNT1):c.1150G>T (p.Asp384Tyr)
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.1200+12_1200+13delinsGC
NM_020822.3(KCNT1):c.1200+5G>A
NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)
NM_020822.3(KCNT1):c.1208A>G (p.Tyr403Cys) rs2131477259
NM_020822.3(KCNT1):c.1224C>A (p.Cys408Ter)
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.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.1254A>C (p.Arg418Ser) rs1440098446
NM_020822.3(KCNT1):c.1260_1269dup (p.Leu424fs)
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.1300G>A (p.Gly434Ser)
NM_020822.3(KCNT1):c.1323C>A (p.Asp441Glu)
NM_020822.3(KCNT1):c.1330C>T (p.Arg444Ter)
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.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.1401+6_1401+9del
NM_020822.3(KCNT1):c.1401A>G (p.Ala467=)
NM_020822.3(KCNT1):c.1402-6C>G
NM_020822.3(KCNT1):c.1402-7C>G
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser) rs866242631
NM_020822.3(KCNT1):c.1432G>A (p.Val478Met)
NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg) rs1245114972
NM_020822.3(KCNT1):c.1510+3G>A rs1832520059
NM_020822.3(KCNT1):c.1510+5G>A
NM_020822.3(KCNT1):c.151G>A (p.Gly51Ser)
NM_020822.3(KCNT1):c.1525GAG[2] (p.Glu511del)
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg) rs1832635534
NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)
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.15C>G (p.Asp5Glu)
NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)
NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)
NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)
NM_020822.3(KCNT1):c.1619+5G>A
NM_020822.3(KCNT1):c.1619+6T>A rs1328836350
NM_020822.3(KCNT1):c.1620-14_1620-4dup
NM_020822.3(KCNT1):c.1620-3C>T
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.1654A>G (p.Met552Val) rs2131507644
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.1684T>C (p.Tyr562His)
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys) rs1832668143
NM_020822.3(KCNT1):c.1693C>T (p.Arg565Cys)
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.1719C>T (p.Arg573=)
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.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.1769+6G>A rs927454585
NM_020822.3(KCNT1):c.1770-3C>T
NM_020822.3(KCNT1):c.1770-7_1785dup
NM_020822.3(KCNT1):c.1777G>C (p.Val593Leu)
NM_020822.3(KCNT1):c.1788C>G (p.Ile596Met)
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
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.1828C>A (p.Pro610Thr)
NM_020822.3(KCNT1):c.1831G>C (p.Gly611Arg)
NM_020822.3(KCNT1):c.1833del (p.Arg613fs) rs1832711486
NM_020822.3(KCNT1):c.1852G>C (p.Ala618Pro)
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val) rs1832713510
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.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.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu) rs1832717620
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.1954G>A (p.Gly652Arg) rs1832720528
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu) rs536588045
NM_020822.3(KCNT1):c.1957_1958insACGGGC (p.Gly652_Leu653insHisGly)
NM_020822.3(KCNT1):c.195_254+851del rs1835645943
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.1991G>A (p.Ser664Asn) rs1832724038
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.2008+15del rs2131512215
NM_020822.3(KCNT1):c.2008+16C>T
NM_020822.3(KCNT1):c.2008+6C>A
NM_020822.3(KCNT1):c.2009-2A>G rs1318491844
NM_020822.3(KCNT1):c.2009-3C>T rs2131520063
NM_020822.3(KCNT1):c.2011A>G (p.Thr671Ala) rs1364315508
NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
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.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.2120G>A (p.Arg707Gln) rs1407599692
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr) rs892635002
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.2152G>T (p.Asp718Tyr)
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.2188G>A (p.Asp730Asn) rs752598622
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.2212C>T (p.Pro738Ser)
NM_020822.3(KCNT1):c.2222A>C (p.Asp741Ala) rs756359375
NM_020822.3(KCNT1):c.2239G>A (p.Val747Ile)
NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)
NM_020822.3(KCNT1):c.2243+6T>C
NM_020822.3(KCNT1):c.2244-1G>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.2291C>T (p.Pro764Leu) rs1833087099
NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del) rs1390654782
NM_020822.3(KCNT1):c.2330G>C (p.Cys777Ser)
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val) rs1833240649
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.2397G>T (p.Lys799Asn)
NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.3(KCNT1):c.2411T>C (p.Ile804Thr) rs2131543567
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.2435A>G (p.Asn812Ser) rs1564380461
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.2465G>A (p.Arg822Gln) rs1833247008
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.2503G>A (p.Val835Met) rs753584318
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+3G>A rs1588381370
NM_020822.3(KCNT1):c.2522+3G>T
NM_020822.3(KCNT1):c.2525C>T (p.Pro842Leu)
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.3(KCNT1):c.2531A>T (p.His844Leu) rs1833337197
NM_020822.3(KCNT1):c.254+3A>G
NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)
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.2576T>C (p.Met859Thr)
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) rs1564381972
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.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.2631G>A (p.Ala877=)
NM_020822.3(KCNT1):c.2634C>A (p.Asp878Glu)
NM_020822.3(KCNT1):c.2639TGG[3] (p.Val883del) rs2131549532
NM_020822.3(KCNT1):c.2647G>A (p.Val883Met)
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2661C>T (p.Ser887=)
NM_020822.3(KCNT1):c.2680G>T (p.Asp894Tyr)
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.2727C>A (p.Phe909Leu)
NM_020822.3(KCNT1):c.2729G>T (p.Arg910Leu)
NM_020822.3(KCNT1):c.2730-18G>C
NM_020822.3(KCNT1):c.2734_2745dup (p.Leu915_Ser916insPheProSerLeu)
NM_020822.3(KCNT1):c.2746A>G (p.Ser916Gly)
NM_020822.3(KCNT1):c.2749A>G (p.Ile917Val) rs2131552837
NM_020822.3(KCNT1):c.2767C>T (p.His923Tyr)
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu) rs1486195544
NM_020822.3(KCNT1):c.2780T>C (p.Met927Thr)
NM_020822.3(KCNT1):c.278A>G (p.Asn93Ser)
NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser) rs1564383774
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2804A>G (p.Lys935Arg) rs1414528567
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.2828C>T (p.Ser943Phe) rs1833442719
NM_020822.3(KCNT1):c.2830A>C (p.Lys944Gln)
NM_020822.3(KCNT1):c.2841+5G>A
NM_020822.3(KCNT1):c.2843G>C (p.Arg948Thr) rs755704046
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.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.2910CAGCAT[3] (p.Ser973_Met974insIleSer)
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr) rs1279003717
NM_020822.3(KCNT1):c.2919C>T (p.Ser973=)
NM_020822.3(KCNT1):c.2944-21_2944-6del
NM_020822.3(KCNT1):c.2944-3C>T rs1554779944
NM_020822.3(KCNT1):c.2950G>C (p.Val984Leu)
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn) rs1833883179
NM_020822.3(KCNT1):c.2960A>G (p.Tyr987Cys)
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala) rs1833884066
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln) rs1833885872
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.3028-2A>T rs2131575343
NM_020822.3(KCNT1):c.3028-5T>G rs755073132
NM_020822.3(KCNT1):c.3040G>A (p.Glu1014Lys)
NM_020822.3(KCNT1):c.304A>G (p.Lys102Glu)
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
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.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.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+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.3157C>T (p.Pro1053Ser) rs1833952592
NM_020822.3(KCNT1):c.3163G>T (p.Asp1055Tyr)
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+6C>T
NM_020822.3(KCNT1):c.3177_3177+22dup rs1833953810
NM_020822.3(KCNT1):c.3178-12_3180dup
NM_020822.3(KCNT1):c.3178-1G>A
NM_020822.3(KCNT1):c.3178-5_3178-1dup rs772240955
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.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.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.3211G>A (p.Asp1071Asn)
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro) rs747837141
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.3281C>G (p.Thr1094Arg)
NM_020822.3(KCNT1):c.3290G>T (p.Gly1097Val)
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>T (p.Arg1106Trp) rs542409033
NM_020822.3(KCNT1):c.3318_3320dup (p.Arg1107_Lys1108insArg)
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.334+8G>A
NM_020822.3(KCNT1):c.3340C>G (p.Arg1114Gly) rs370085077
NM_020822.3(KCNT1):c.3346C>A (p.Leu1116Met)
NM_020822.3(KCNT1):c.335-5C>A rs745658927
NM_020822.3(KCNT1):c.3352C>T (p.Arg1118Cys)
NM_020822.3(KCNT1):c.3356A>C (p.Lys1119Thr)
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
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.3388G>T (p.Ala1130Ser) rs138421850
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.3407A>G (p.Gln1136Arg)
NM_020822.3(KCNT1):c.3409C>A (p.Arg1137Ser)
NM_020822.3(KCNT1):c.3412C>A (p.Leu1138Ile)
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met) rs1237797436
NM_020822.3(KCNT1):c.3419T>A (p.Leu1140Gln) rs774987263
NM_020822.3(KCNT1):c.3427C>A (p.Arg1143Ser) rs760923308
NM_020822.3(KCNT1):c.3427C>T (p.Arg1143Cys)
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.3464A>G (p.Asn1155Ser)
NM_020822.3(KCNT1):c.3466C>G (p.Arg1156Gly)
NM_020822.3(KCNT1):c.3466C>T (p.Arg1156Cys)
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.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.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.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.35dup (p.Val13fs) rs1835063072
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.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.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.3649A>G (p.Ser1217Gly) rs2131606216
NM_020822.3(KCNT1):c.3650G>T (p.Ser1217Ile)
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.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.3700_3701del (p.Gln1234fs) rs1834589533
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.400G>T (p.Val134Phe) rs766663683
NM_020822.3(KCNT1):c.406C>T (p.Leu136Phe)
NM_020822.3(KCNT1):c.416C>T (p.Pro139Leu)
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.434G>A (p.Cys145Tyr) rs1831132002
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.492-3C>A rs1831398385
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr) rs149908455
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser) rs748898708
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.524C>T (p.Thr175Ile)
NM_020822.3(KCNT1):c.540G>A (p.Gln180=)
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.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+3G>A
NM_020822.3(KCNT1):c.60_75del (p.Gly21fs) rs2131304179
NM_020822.3(KCNT1):c.612G>T (p.Trp204Cys)
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.626G>T (p.Arg209Leu)
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.658C>G (p.Leu220Val)
NM_020822.3(KCNT1):c.675+17_676-22del
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.701T>A (p.Leu234Gln) rs201583448
NM_020822.3(KCNT1):c.704del (p.Phe235fs) rs1187172120
NM_020822.3(KCNT1):c.70A>C (p.Asn24His)
NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)
NM_020822.3(KCNT1):c.752del (p.Asn251fs)
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.3(KCNT1):c.763G>A (p.Asp255Asn)
NM_020822.3(KCNT1):c.763del (p.Asp255fs) rs755630818
NM_020822.3(KCNT1):c.772C>T (p.Arg258Cys)
NM_020822.3(KCNT1):c.773G>A (p.Arg258His)
NM_020822.3(KCNT1):c.775G>T (p.Ala259Ser)
NM_020822.3(KCNT1):c.779T>C (p.Ile260Thr)
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.814C>A (p.Leu272Ile) rs757884130
NM_020822.3(KCNT1):c.814C>T (p.Leu272Phe)
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.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.855-10G>A rs1057521940
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.881G>A (p.Arg294Gln)
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser) rs1831777941
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.943G>A (p.Val315Met)
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.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.997A>T (p.Ile333Phe)
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met) rs764327750

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