ClinVar Miner

List of variants in gene KCNT1 studied for Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 808
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HGVS dbSNP
NC_000009.11:g.(?_138594085)_(138606586_?)dup
NC_000009.11:g.(?_138606413)_(138606576_?)del
NC_000009.11:g.(?_138606505_138607415del
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.1008C>T (p.Cys336=) rs540422455
NM_020822.3(KCNT1):c.1011G>A (p.Val337=)
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met)
NM_020822.3(KCNT1):c.1035+1G>A
NM_020822.3(KCNT1):c.1036-15G>A rs112341167
NM_020822.3(KCNT1):c.1036-8del
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu)
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859
NM_020822.3(KCNT1):c.1047C>T (p.Leu349=) rs370414453
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195
NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=) rs973806258
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) rs116691849
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=) rs777409717
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553
NM_020822.3(KCNT1):c.1089C>T (p.Tyr363=)
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser) rs778405770
NM_020822.3(KCNT1):c.110+1G>C rs780331569
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val)
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445
NM_020822.3(KCNT1):c.111-8G>A rs779128853
NM_020822.3(KCNT1):c.111-8G>C
NM_020822.3(KCNT1):c.111-8G>T
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.1113G>A (p.Glu371=)
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341
NM_020822.3(KCNT1):c.1122G>T (p.Val374=) rs774643792
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly) rs1588255201
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn)
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe) rs765193021
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110
NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile)
NM_020822.3(KCNT1):c.1167C>T (p.Phe389=)
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys) rs780708628
NM_020822.3(KCNT1):c.1176G>A (p.Glu392=)
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) rs372491855
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr) rs1588343193
NM_020822.3(KCNT1):c.1188C>T (p.His396=) rs544796091
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1194G>T (p.Arg398=)
NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg)
NM_020822.3(KCNT1):c.1200+12T>G rs58604946
NM_020822.3(KCNT1):c.1200+15C>T rs138631641
NM_020822.3(KCNT1):c.1200+7C>T
NM_020822.3(KCNT1):c.1201-5G>A rs766093946
NM_020822.3(KCNT1):c.1201-6C>T rs543464639
NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=) rs374653926
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1230G>A (p.Thr410=)
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val)
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys) rs781342838
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1284G>A (p.Arg428=) rs943112493
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr)
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285
NM_020822.3(KCNT1):c.1317C>T (p.Asp439=)
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1337+7G>A rs374975940
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser)
NM_020822.3(KCNT1):c.1347T>C (p.Asn449=)
NM_020822.3(KCNT1):c.1356C>G (p.Ala452=) rs138306663
NM_020822.3(KCNT1):c.135G>A (p.Ala45=)
NM_020822.3(KCNT1):c.135G>C (p.Ala45=)
NM_020822.3(KCNT1):c.1365C>T (p.Ile455=) rs1305510057
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1380C>T (p.Asn460=) rs566700584
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376
NM_020822.3(KCNT1):c.1396G>A (p.Ala466Thr)
NM_020822.3(KCNT1):c.1402-5G>A rs573411729
NM_020822.3(KCNT1):c.1402-6C>T rs755796820
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr)
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val)
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=)
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr) rs577633745
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=) rs765534465
NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=) rs375585422
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile)
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341
NM_020822.3(KCNT1):c.1473C>T (p.Ile491=)
NM_020822.3(KCNT1):c.1476C>T (p.Leu492=)
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg) rs1245114972
NM_020822.3(KCNT1):c.1497C>T (p.His499=) rs754670800
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile) rs778483249
NM_020822.3(KCNT1):c.1510+3G>A
NM_020822.3(KCNT1):c.1510+4C>T rs554828530
NM_020822.3(KCNT1):c.1511-4G>A rs368480443
NM_020822.3(KCNT1):c.1515C>T (p.His505=)
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978
NM_020822.3(KCNT1):c.1524T>C (p.Cys508=)
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala) rs1554763393
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg)
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302
NM_020822.3(KCNT1):c.1563C>T (p.Cys521=) rs377263803
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501
NM_020822.3(KCNT1):c.1575G>A (p.Ala525=) rs566045604
NM_020822.3(KCNT1):c.1602G>A (p.Val534=)
NM_020822.3(KCNT1):c.1605C>T (p.His535=)
NM_020822.3(KCNT1):c.1608G>A (p.Thr536=)
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173
NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser)
NM_020822.3(KCNT1):c.1619+19G>A
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1619+6T>A rs1328836350
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg)
NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys)
NM_020822.3(KCNT1):c.1623G>A (p.Glu541=) rs758644634
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly) rs1564370162
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His) rs567764094
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=)
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys)
NM_020822.3(KCNT1):c.1671C>T (p.Ser557=)
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys) rs1564370223
NM_020822.3(KCNT1):c.1677C>T (p.Asn559=)
NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys)
NM_020822.3(KCNT1):c.1680G>A (p.Glu560=) rs143983055
NM_020822.3(KCNT1):c.1683G>A (p.Val561=)
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys)
NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=) rs760141025
NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr)
NM_020822.3(KCNT1):c.1689C>T (p.His563=)
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr)
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer) rs1554774874
NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg)
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg)
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) rs781375160
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys)
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) rs763438119
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly) rs1554774904
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) rs1554774904
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=)
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr) rs144421853
NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg)
NM_020822.3(KCNT1):c.1769+11del
NM_020822.3(KCNT1):c.1769+16A>G rs10776844
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.1769+8C>T rs371287985
NM_020822.3(KCNT1):c.1769+9G>A rs758402819
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=)
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe)
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768
NM_020822.3(KCNT1):c.1794G>C (p.Leu598=) rs1588361953
NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn)
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) rs773621687
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=) rs376892911
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=) rs1060505001
NM_020822.3(KCNT1):c.1812G>A (p.Lys604=)
NM_020822.3(KCNT1):c.1824G>A (p.Leu608=) rs764141661
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.1830G>C (p.Pro610=)
NM_020822.3(KCNT1):c.1833G>A (p.Gly611=)
NM_020822.3(KCNT1):c.1833del (p.Arg613fs)
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser) rs1330106369
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp)
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257
NM_020822.3(KCNT1):c.1851C>T (p.Ala617=) rs1275903338
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val)
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)
NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn)
NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu)
NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His)
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=) rs1554775088
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.1887G>A (p.Lys629=)
NM_020822.3(KCNT1):c.1890G>A (p.Glu630=) rs1326023054
NM_020822.3(KCNT1):c.1893G>A (p.Glu631=)
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108
NM_020822.3(KCNT1):c.1905C>T (p.Phe635=)
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu)
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp) rs1564314603
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser) rs753543470
NM_020822.3(KCNT1):c.1946C>G (p.Ser649Trp)
NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu) rs747671066
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=) rs779903423
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg) rs1022928641
NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg)
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu)
NM_020822.3(KCNT1):c.195_254+851del
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln) rs770039542
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154
NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu) rs566157365
NM_020822.3(KCNT1):c.1975del (p.Arg659fs)
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985
NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu)
NM_020822.3(KCNT1):c.1988A>G (p.His663Arg)
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn)
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=) rs558095270
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=)
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=) rs368777569
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys) rs1060503698
NM_020822.3(KCNT1):c.2005A>G (p.Met669Val)
NM_020822.3(KCNT1):c.2008+10G>C rs752453368
NM_020822.3(KCNT1):c.2008+7C>T rs372707698
NM_020822.3(KCNT1):c.2008+8G>A rs759334176
NM_020822.3(KCNT1):c.2008+9G>T rs375088109
NM_020822.3(KCNT1):c.2009-2A>G
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) rs753401695
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.3(KCNT1):c.2036C>T (p.Thr679Ile)
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly) rs1207174167
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438
NM_020822.3(KCNT1):c.2049T>C (p.Pro683=) rs1234688449
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410
NM_020822.3(KCNT1):c.2068G>A (p.Gly690Ser)
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val)
NM_020822.3(KCNT1):c.2089C>T (p.Leu697=)
NM_020822.3(KCNT1):c.2095A>G (p.Thr699Ala)
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) rs538197009
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=) rs762620377
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln) rs1554775570
NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser)
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485
NM_020822.3(KCNT1):c.2109G>A (p.Ser703=)
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=) rs767200583
NM_020822.3(KCNT1):c.2117G>A (p.Arg706Gln)
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=)
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp) rs568144711
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp) rs755348603
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln)
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=)
NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr)
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=) rs755266973
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058
NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile)
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=) rs752522838
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=) rs758589013
NM_020822.3(KCNT1):c.2152G>A (p.Asp718Asn)
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023
NM_020822.3(KCNT1):c.2175C>T (p.Cys725=) rs368450848
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) rs1367605908
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889
NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu)
NM_020822.3(KCNT1):c.2196G>A (p.Ser732=) rs557680361
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
NM_020822.3(KCNT1):c.219G>A (p.Leu73=)
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del)
NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del)
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=) rs148928475
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu)
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797
NM_020822.3(KCNT1):c.2220C>T (p.Asp740=) rs148162797
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn) rs375403065
NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly) rs756359375
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2229G>T (p.Gly743=)
NM_020822.3(KCNT1):c.222G>T (p.Leu74=)
NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe)
NM_020822.3(KCNT1):c.2232C>G (p.Leu744=)
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618
NM_020822.3(KCNT1):c.2244-10C>T
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995
NM_020822.3(KCNT1):c.2265C>T (p.Pro755=) rs1263083880
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu) rs775923151
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=) rs370521183
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu)
NM_020822.3(KCNT1):c.2295C>T (p.Thr765=) rs765278495
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=)
NM_020822.3(KCNT1):c.231C>T (p.Asp77=) rs370998066
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=) rs1588376018
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del) rs1390654782
NM_020822.3(KCNT1):c.2337G>A (p.Leu779=) rs544099606
NM_020822.3(KCNT1):c.2349+6G>T
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2349+8del
NM_020822.3(KCNT1):c.2350-10C>T rs367855961
NM_020822.3(KCNT1):c.2350-3C>T
NM_020822.3(KCNT1):c.2350-5C>T rs965133345
NM_020822.3(KCNT1):c.2350-8G>A rs371678685
NM_020822.3(KCNT1):c.2370T>C (p.Tyr790=) rs1588380952
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val)
NM_020822.3(KCNT1):c.237C>T (p.Ser79=) rs749179872
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2388C>T (p.Tyr796=)
NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg)
NM_020822.3(KCNT1):c.2391G>A (p.Gly797=)
NM_020822.3(KCNT1):c.2409C>T (p.Ile803=) rs557969167
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.3(KCNT1):c.240C>T (p.Phe80=) rs1554763398
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=) rs559452456
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010
NM_020822.3(KCNT1):c.2421A>G (p.Ala807=)
NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met)
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser) rs1564380461
NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu)
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val)
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823
NM_020822.3(KCNT1):c.2455G>A (p.Val819Met)
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln)
NM_020822.3(KCNT1):c.2475C>T (p.Tyr825=)
NM_020822.3(KCNT1):c.247G>C (p.Asp83His) rs774085172
NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val)
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met) rs753584318
NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del)
NM_020822.3(KCNT1):c.2522+3G>A rs1588381370
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn)
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
NM_020822.3(KCNT1):c.254+20T>C rs2385007
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.255-4T>A
NM_020822.3(KCNT1):c.2555G>T (p.Cys852Phe)
NM_020822.3(KCNT1):c.2568C>T (p.Val856=) rs1554777911
NM_020822.3(KCNT1):c.2580G>A (p.Glu860=)
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) rs1564381972
NM_020822.3(KCNT1):c.2589G>A (p.Val863=) rs558135119
NM_020822.3(KCNT1):c.2594+10G>A
NM_020822.3(KCNT1):c.2594+6G>A rs973179248
NM_020822.3(KCNT1):c.2594+7C>A
NM_020822.3(KCNT1):c.2594+7C>T rs545094921
NM_020822.3(KCNT1):c.2595-8G>A
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.2598G>A (p.Leu866=)
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly)
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=) rs1588384964
NM_020822.3(KCNT1):c.2649G>A (p.Val883=)
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=) rs765403435
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=) rs142642528
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=) rs369904278
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr) rs778647834
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=) rs1588385244
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp)
NM_020822.3(KCNT1):c.2729+5G>A
NM_020822.3(KCNT1):c.2729+9A>G rs12005420
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys)
NM_020822.3(KCNT1):c.2739C>T (p.Pro913=)
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) rs776233220
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) rs775752475
NM_020822.3(KCNT1):c.2757G>C (p.Thr919=)
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu)
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys) rs150395210
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2799C>T (p.Arg933=) rs551148089
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn)
NM_020822.3(KCNT1):c.2814C>T (p.Tyr938=)
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe)
NM_020822.3(KCNT1):c.2833C>T (p.Leu945=)
NM_020822.3(KCNT1):c.2835A>T (p.Leu945=) rs1401533323
NM_020822.3(KCNT1):c.2841+10C>T rs765179799
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=) rs779429071
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732
NM_020822.3(KCNT1):c.2865C>T (p.Asn955=)
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.2888C>T (p.Pro963Leu) rs997774104
NM_020822.3(KCNT1):c.2889G>A (p.Pro963=)
NM_020822.3(KCNT1):c.288C>T (p.Thr96=) rs764504563
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=) rs776550763
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242
NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser)
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473
NM_020822.3(KCNT1):c.2904C>T (p.Arg968=)
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr)
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=) rs878855056
NM_020822.3(KCNT1):c.2943+1G>C
NM_020822.3(KCNT1):c.2943+6C>T rs28612938
NM_020822.3(KCNT1):c.2943+7G>A rs375869783
NM_020822.3(KCNT1):c.2946C>T (p.Ser982=)
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met) rs1465054757
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn)
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala)
NM_020822.3(KCNT1):c.2973C>T (p.Ile991=) rs781212036
NM_020822.3(KCNT1):c.2976C>T (p.Thr992=)
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp) rs368252006
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln)
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp)
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=) rs560435329
NM_020822.3(KCNT1):c.3006G>A (p.Pro1002=) rs377162900
NM_020822.3(KCNT1):c.300G>A (p.Arg100=) rs762249620
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=) rs751965012
NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=) rs368875875
NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser)
NM_020822.3(KCNT1):c.3027+1G>A
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=)
NM_020822.3(KCNT1):c.3028-10C>G
NM_020822.3(KCNT1):c.3028-5T>G
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=)
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg)
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=) rs760974671
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782
NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His)
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) rs1588401995
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142
NM_020822.3(KCNT1):c.3099C>T (p.Ser1033=)
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239
NM_020822.3(KCNT1):c.30G>A (p.Pro10=) rs139034501
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735
NM_020822.3(KCNT1):c.3102C>T (p.Ala1034=)
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys)
NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=)
NM_020822.3(KCNT1):c.3111C>T (p.Pro1037=)
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp) rs772472766
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp)
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) rs760000324
NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del)
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter)
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.3(KCNT1):c.3156+15_3156+37del rs777726660
NM_020822.3(KCNT1):c.3157-8C>T rs371874401
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His)
NM_020822.3(KCNT1):c.3162C>T (p.His1054=) rs146272510
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn) rs537379253
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr) rs1564392375
NM_020822.3(KCNT1):c.3173C>T (p.Ala1058Val)
NM_020822.3(KCNT1):c.3177+12del
NM_020822.3(KCNT1):c.3177_3177+22dup
NM_020822.3(KCNT1):c.3178-5_3178-1dup
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr) rs1588407407
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu)
NM_020822.3(KCNT1):c.3189G>C (p.Ser1063=)
NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=) rs777914546
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226
NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg)
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser) rs781225639
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro) rs747837141
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=) rs375957383
NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser)
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro)
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly) rs776232246
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) rs760151844
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534
NM_020822.3(KCNT1):c.3247G>A (p.Ala1083Thr) rs917893164
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) rs917893164
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=) rs948170691
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=)
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp)
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His) rs369576806
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=)
NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp)
NM_020822.3(KCNT1):c.3285C>T (p.Gly1095=)
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) rs748115007
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=) rs376167145
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr)
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val) rs996610690
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His) rs756256138
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn) rs1588407944
NM_020822.3(KCNT1):c.3333G>A (p.Gln1111=) rs960008558
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253
NM_020822.3(KCNT1):c.334+10G>A rs185209587
NM_020822.3(KCNT1):c.334+7G>A rs1057522631
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln) rs758311066
NM_020822.3(KCNT1):c.335-4G>A rs372339395
NM_020822.3(KCNT1):c.335-5C>T rs745658927
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103
NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg)
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367
NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp)
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) rs763400879
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418
NM_020822.3(KCNT1):c.3384G>A (p.Ala1128=) rs760868141
NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr)
NM_020822.3(KCNT1):c.3387C>G (p.Ala1129=)
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser)
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln) rs1588309597
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=) rs781111074
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly)
NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His)
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met)
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln) rs773520283
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys)
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=) rs1373486252
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe)
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln) rs750176430
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val)
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.346C>T (p.Arg116Trp)
NM_020822.3(KCNT1):c.3483G>T (p.Gly1161=)
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala)
NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile)
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser)
NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser)
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.3(KCNT1):c.3502+10C>T
NM_020822.3(KCNT1):c.3502+16G>A rs112116686
NM_020822.3(KCNT1):c.3502+2dup
NM_020822.3(KCNT1):c.3502+9A>G
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=) rs761504279
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val)
NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg)
NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys)
NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val)
NM_020822.3(KCNT1):c.3534C>A (p.Ser1178=) rs1588422518
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148
NM_020822.3(KCNT1):c.3538G>A (p.Val1180Ile)
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
NM_020822.3(KCNT1):c.3554C>T (p.Pro1185Leu)
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu)
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396
NM_020822.3(KCNT1):c.3564G>C (p.Thr1188=) rs530040739
NM_020822.3(KCNT1):c.3567G>A (p.Arg1189=)
NM_020822.3(KCNT1):c.3571G>A (p.Glu1191Lys)
NM_020822.3(KCNT1):c.3574C>T (p.Pro1192Ser)
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995
NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg)
NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=)
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758
NM_020822.3(KCNT1):c.3588-3C>T rs1222157071
NM_020822.3(KCNT1):c.3588-4G>A
NM_020822.3(KCNT1):c.3588-5C>T
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=)
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322
NM_020822.3(KCNT1):c.35dup (p.Val13fs)
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=)
NM_020822.3(KCNT1):c.3603C>T (p.Ser1201=)
NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu)
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His) rs762025166
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr)
NM_020822.3(KCNT1):c.3618C>T (p.His1206=) rs577378740
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met) rs766339368
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr) rs1564402008
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys) rs1554782444
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp)
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg)
NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=)
NM_020822.3(KCNT1):c.364C>T (p.Leu122=)
NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg)
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=) rs755694160
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=)
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) rs556454353
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys) rs771068120
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=) rs758617654
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494
NM_020822.3(KCNT1):c.36C>G (p.Gly12=)
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala) rs764111643
NM_020822.3(KCNT1):c.398G>A (p.Arg133His) rs201295824
NM_020822.3(KCNT1):c.399C>T (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile) rs766663683
NM_020822.3(KCNT1):c.400G>T (p.Val134Phe)
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.429C>A (p.Ile143=)
NM_020822.3(KCNT1):c.429C>T (p.Ile143=)
NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg)
NM_020822.3(KCNT1):c.434+10G>A rs187872786
NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr)
NM_020822.3(KCNT1):c.435-6C>T
NM_020822.3(KCNT1):c.462C>T (p.Ser154=)
NM_020822.3(KCNT1):c.467A>G (p.Asn156Ser)
NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln)
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val) rs755980218
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys)
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser)
NM_020822.3(KCNT1):c.502C>T (p.Leu168=) rs1175336277
NM_020822.3(KCNT1):c.504G>A (p.Leu168=) rs1588317741
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val) rs377687237
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.526C>T (p.Leu176=)
NM_020822.3(KCNT1):c.528G>A (p.Leu176=)
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys)
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737
NM_020822.3(KCNT1):c.534G>A (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.53G>A (p.Arg18His)
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)
NM_020822.3(KCNT1):c.541-7C>A rs1489319809
NM_020822.3(KCNT1):c.547G>A (p.Val183Met)
NM_020822.3(KCNT1):c.54C>G (p.Arg18=) rs754697766
NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser)
NM_020822.3(KCNT1):c.553A>G (p.Ile185Val)
NM_020822.3(KCNT1):c.555A>G (p.Ile185Met)
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser)
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864
NM_020822.3(KCNT1):c.573G>A (p.Thr191=)
NM_020822.3(KCNT1):c.573G>C (p.Thr191=) rs375310989
NM_020822.3(KCNT1):c.57C>T (p.Gly19=) rs1245480933
NM_020822.3(KCNT1):c.585C>T (p.Ile195=) rs148910448
NM_020822.3(KCNT1):c.588C>T (p.Tyr196=)
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020822.3(KCNT1):c.600+5G>A rs770367654
NM_020822.3(KCNT1):c.600+8C>T rs1588321982
NM_020822.3(KCNT1):c.601-13C>G rs202113794
NM_020822.3(KCNT1):c.60G>A (p.Gly20=) rs777349172
NM_020822.3(KCNT1):c.621C>A (p.Ile207=)
NM_020822.3(KCNT1):c.626G>A (p.Arg209His) rs756952430
NM_020822.3(KCNT1):c.627C>T (p.Arg209=)
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp) rs368870705
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val) rs368870705
NM_020822.3(KCNT1):c.636C>T (p.Phe212=)
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) rs143536408
NM_020822.3(KCNT1):c.642G>A (p.Leu214=)
NM_020822.3(KCNT1):c.645G>A (p.Glu215=) rs1233969286
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys) rs551930493
NM_020822.3(KCNT1):c.675+10C>T
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063
NM_020822.3(KCNT1):c.676-4A>G rs780921786
NM_020822.3(KCNT1):c.687G>A (p.Pro229=)
NM_020822.3(KCNT1):c.704del (p.Phe235fs)
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=)
NM_020822.3(KCNT1):c.730C>T (p.Leu244=) rs376096546
NM_020822.3(KCNT1):c.732G>A (p.Leu244=) rs759580596
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)
NM_020822.3(KCNT1):c.741C>T (p.His247=) rs1218041775
NM_020822.3(KCNT1):c.744G>A (p.Ala248=) rs145697148
NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro)
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.3(KCNT1):c.759+10G>A
NM_020822.3(KCNT1):c.759+7C>T rs779833209
NM_020822.3(KCNT1):c.760-19G>A rs375929015
NM_020822.3(KCNT1):c.760-9C>T rs1554771446
NM_020822.3(KCNT1):c.762T>C (p.Asn254=) rs1481356544
NM_020822.3(KCNT1):c.765C>T (p.Asp255=) rs1167927802
NM_020822.3(KCNT1):c.768C>T (p.Phe256=)
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951
NM_020822.3(KCNT1):c.777C>T (p.Ala259=)
NM_020822.3(KCNT1):c.781C>T (p.Leu261=) rs1588327182
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.793_796del (p.Ser265fs)
NM_020822.3(KCNT1):c.797C>T (p.Ala266Val)
NM_020822.3(KCNT1):c.804C>T (p.Phe268=)
NM_020822.3(KCNT1):c.81C>T (p.Phe27=)
NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu) rs1554760875
NM_020822.3(KCNT1):c.835C>T (p.Leu279=)
NM_020822.3(KCNT1):c.843C>T (p.Leu281=)
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met) rs376583438
NM_020822.3(KCNT1):c.852G>A (p.Thr284=) rs773023899
NM_020822.3(KCNT1):c.854+10G>A rs146470183
NM_020822.3(KCNT1):c.854+9C>T rs370686981
NM_020822.3(KCNT1):c.855-7G>A rs768046676
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu) rs1406826181
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901
NM_020822.3(KCNT1):c.879G>A (p.Glu293=) rs557092185
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser)
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.3(KCNT1):c.897G>A (p.Leu299=)
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) rs1564356207
NM_020822.3(KCNT1):c.903C>T (p.Leu301=) rs1588330751
NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr) rs1060503697
NM_020822.3(KCNT1):c.90C>T (p.Asp30=)
NM_020822.3(KCNT1):c.91G>T (p.Asp31Tyr)
NM_020822.3(KCNT1):c.921C>T (p.Phe307=) rs878855057
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser)
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met) rs1588330851
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) rs978227077
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met)
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met)
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956

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