NC_000009.11:g.(?_138606413)_(138606576_?)del


NC_000009.11:g.(?_138606505_138607415del


NM_020822.3(KCNT1):c.*13C>T

rs373376689

NM_020822.3(KCNT1):c.16C>T

rs562987416

NM_020822.3(KCNT1):c.1C>A

rs149383208

NM_020822.3(KCNT1):c.27C>T

rs550838618

NM_020822.3(KCNT1):c.38C>T

rs943933167

NM_020822.3(KCNT1):c.40C>T

rs908377945

NM_020822.3(KCNT1):c.1008C>T (p.Cys336=)

rs540422455

NM_020822.3(KCNT1):c.1032G>A (p.Leu344=)

rs1057521705

NM_020822.3(KCNT1):c.103612T>G

rs113079797

NM_020822.3(KCNT1):c.1036160G>T

rs112178019

NM_020822.3(KCNT1):c.1036168C>G

rs114063333

NM_020822.3(KCNT1):c.1036205G>T

rs79954161

NM_020822.3(KCNT1):c.10367C>T

rs774394132

NM_020822.3(KCNT1):c.10368del


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.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.110+154G>A

rs188210338

NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)

rs146032445

NM_020822.3(KCNT1):c.1118G>A

rs779128853

NM_020822.3(KCNT1):c.1118G>C


NM_020822.3(KCNT1):c.1118G>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.1134C>T (p.Val378=)

rs149960236

NM_020822.3(KCNT1):c.1149C>T (p.Ile383=)

rs144977019

NM_020822.3(KCNT1):c.1152C>T (p.Asp384=)

rs763854215

NM_020822.3(KCNT1):c.1155T>C (p.Leu385=)

rs756900818

NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)

rs780875110

NM_020822.3(KCNT1):c.1158C>G (p.Leu386=)

rs749974440

NM_020822.3(KCNT1):c.1167C>T (p.Phe389=)


NM_020822.3(KCNT1):c.1173C>T (p.Asn391=)

rs374015551

NM_020822.3(KCNT1):c.1176G>A (p.Glu392=)


NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=)

rs372491855

NM_020822.3(KCNT1):c.1194G>T (p.Arg398=)


NM_020822.3(KCNT1):c.1200+15C>T

rs138631641

NM_020822.3(KCNT1):c.1200+16G>A

rs542132567

NM_020822.3(KCNT1):c.1200+68A>G

rs141793832

NM_020822.3(KCNT1):c.1200+7C>T


NM_020822.3(KCNT1):c.120116T>C

rs1057521711

NM_020822.3(KCNT1):c.12015G>A

rs766093946

NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=)

rs374653926

NM_020822.3(KCNT1):c.123G>C (p.Ala41=)

rs1352859989

NM_020822.3(KCNT1):c.1258C>T (p.Leu420=)

rs199996353

NM_020822.3(KCNT1):c.126G>A (p.Gly42=)

rs1278186698

NM_020822.3(KCNT1):c.1282C>A (p.Arg428=)

rs373755663

NM_020822.3(KCNT1):c.1284G>A (p.Arg428=)

rs943112493

NM_020822.3(KCNT1):c.1296C>G (p.Leu432=)

rs1057524172

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.1326C>A (p.Leu442=)

rs200910140

NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu)

rs1554773537

NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu)

rs201908490

NM_020822.3(KCNT1):c.1337+16C>T

rs369329858

NM_020822.3(KCNT1):c.1337+17G>A

rs780243563

NM_020822.3(KCNT1):c.1337+7G>A

rs374975940

NM_020822.3(KCNT1):c.13383C>T

rs369562243

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.1368C>T (p.Leu456=)

rs373948466

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.1394C>T (p.Thr465Met)

rs539139475

NM_020822.3(KCNT1):c.1395G>A (p.Thr465=)

rs777870376

NM_020822.3(KCNT1):c.140212C>T

rs1057521588

NM_020822.3(KCNT1):c.14025G>A

rs573411729

NM_020822.3(KCNT1):c.14026C>T

rs755796820

NM_020822.3(KCNT1):c.1407C>G (p.His469Gln)

rs537722828

NM_020822.3(KCNT1):c.1409A>G (p.Gln470Arg)

rs773888049

NM_020822.3(KCNT1):c.1422C>T (p.Arg474=)

rs372250372

NM_020822.3(KCNT1):c.1431C>T (p.Ala477=)

rs375534850

NM_020822.3(KCNT1):c.1440C>T (p.Asp480=)


NM_020822.3(KCNT1):c.1443C>T (p.Phe481=)

rs576446992

NM_020822.3(KCNT1):c.1449C>T (p.Pro483=)

rs765534465

NM_020822.3(KCNT1):c.1461C>T (p.Leu487=)

rs763089040

NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=)

rs375585422

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.1497C>T (p.His499=)

rs754670800

NM_020822.3(KCNT1):c.150C>A (p.Ala50=)

rs761304952

NM_020822.3(KCNT1):c.1510+183T>A

rs10858171

NM_020822.3(KCNT1):c.1510+251C>T

rs56413753

NM_020822.3(KCNT1):c.1510+270A>G

rs60142493

NM_020822.3(KCNT1):c.1510+80C>T

rs188246311

NM_020822.3(KCNT1):c.151112C>A

rs549024643

NM_020822.3(KCNT1):c.15114G>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.1533G>A (p.Glu511=)

rs151080601

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.1554G>A (p.Ala518=)

rs756721305

NM_020822.3(KCNT1):c.1563C>T (p.Cys521=)

rs377263803

NM_020822.3(KCNT1):c.1566C>T (p.Ile522=)


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.1593C>T (p.Thr531=)

rs749641549

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.1614C>T (p.Arg538=)

rs368876173

NM_020822.3(KCNT1):c.1619+18C>T

rs183348093

NM_020822.3(KCNT1):c.1619+20_1619+27del

rs1064795535

NM_020822.3(KCNT1):c.1619+5GTGCCCC[3]

rs573524284

NM_020822.3(KCNT1):c.162010_16205dup

rs754045989

NM_020822.3(KCNT1):c.162015_16205del

rs761464076

NM_020822.3(KCNT1):c.162015_16205dup

rs761464076

NM_020822.3(KCNT1):c.162016C>G

rs369334561

NM_020822.3(KCNT1):c.162017C>T

rs376069264

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.1638G>A (p.Pro546=)

rs138352399

NM_020822.3(KCNT1):c.1653C>T (p.Arg551=)


NM_020822.3(KCNT1):c.1671C>T (p.Ser557=)


NM_020822.3(KCNT1):c.1677C>T (p.Asn559=)


NM_020822.3(KCNT1):c.1680G>A (p.Glu560=)

rs143983055

NM_020822.3(KCNT1):c.1683G>A (p.Val561=)


NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=)

rs760141025

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.16G>A (p.Gly6Arg)


NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val)

rs781375160

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.173A>G (p.Asp58Gly)

rs1588255313

NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=)

rs763438119

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.1769+11del


NM_020822.3(KCNT1):c.1769+20A>G

rs1057524400

NM_020822.3(KCNT1):c.1769+8C>A

rs371287985

NM_020822.3(KCNT1):c.1769+8C>T

rs371287985

NM_020822.3(KCNT1):c.1769+98G>A

rs145655663

NM_020822.3(KCNT1):c.1769+9G>A

rs758402819

NM_020822.3(KCNT1):c.1770116C>A

rs143609496

NM_020822.3(KCNT1):c.177015G>A

rs746828967

NM_020822.3(KCNT1):c.177016C>T

rs192658955

NM_020822.3(KCNT1):c.177020T>C

rs1239661382

NM_020822.3(KCNT1):c.177034G>T

rs148022360

NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)

rs769406687

NM_020822.3(KCNT1):c.1777G>A (p.Val593Met)

rs779590747

NM_020822.3(KCNT1):c.1779G>A (p.Val593=)

rs748744989

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.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.1827C>T (p.Asn609=)

rs142534422

NM_020822.3(KCNT1):c.1830G>C (p.Pro610=)


NM_020822.3(KCNT1):c.1833G>A (p.Gly611=)


NM_020822.3(KCNT1):c.1851C>T (p.Ala617=)

rs1275903338

NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)


NM_020822.3(KCNT1):c.1881C>T (p.Ile627=)

rs1554775088

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.1899G>A (p.Ser633=)

rs371135108

NM_020822.3(KCNT1):c.1905C>T (p.Phe635=)


NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)

rs141281093

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.1962C>T (p.His654=)

rs141759469

NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln)

rs770039542

NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu)

rs566157365

NM_020822.3(KCNT1):c.1983C>T (p.Pro661=)

rs533528985

NM_020822.3(KCNT1):c.1988A>G (p.His663Arg)


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.1998C>A (p.Ile666=)


NM_020822.3(KCNT1):c.1998C>T (p.Ile666=)

rs368777569

NM_020822.3(KCNT1):c.2008+10G>C

rs752453368

NM_020822.3(KCNT1):c.2008+18C>T

rs370292952

NM_020822.3(KCNT1):c.2008+19G>A

rs369119562

NM_020822.3(KCNT1):c.2008+20C>T

rs371649094

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.200939G>A

rs78274769

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.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.2061C>T (p.Gly687=)

rs748229745

NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)

rs370155559

NM_020822.3(KCNT1):c.2076C>T (p.Gly692=)

rs1267885761

NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val)


NM_020822.3(KCNT1):c.2089C>T (p.Leu697=)


NM_020822.3(KCNT1):c.2097G>A (p.Thr699=)

rs762620377

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.2121G>A (p.Arg707=)


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.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.2175C>T (p.Cys725=)

rs368450848

NM_020822.3(KCNT1):c.2184G>C (p.Leu728=)

rs1057522862

NM_020822.3(KCNT1):c.2187C>T (p.Ser729=)

rs150222138

NM_020822.3(KCNT1):c.2196G>A (p.Ser732=)

rs557680361

NM_020822.3(KCNT1):c.219G>A (p.Leu73=)


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.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.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.2232C>G (p.Leu744=)


NM_020822.3(KCNT1):c.2235C>G (p.Ser745=)

rs146810749

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.2243+172C>T

rs113382099

NM_020822.3(KCNT1):c.2243+328G>A

rs118000596

NM_020822.3(KCNT1):c.224410C>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.2280C>T (p.Ile760=)

rs370521183

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.2337G>A (p.Leu779=)

rs544099606

NM_020822.3(KCNT1):c.2349+20C>T

rs375666062

NM_020822.3(KCNT1):c.2349+6G>T


NM_020822.3(KCNT1):c.2349+8del


NM_020822.3(KCNT1):c.235010C>T

rs367855961

NM_020822.3(KCNT1):c.235017C>G

rs1057522624

NM_020822.3(KCNT1):c.2350189G>A

rs369543918

NM_020822.3(KCNT1):c.235024_235013del

rs374463149

NM_020822.3(KCNT1):c.235040CAGCCCTGACTC[3]

rs374463149

NM_020822.3(KCNT1):c.23505C>T

rs965133345

NM_020822.3(KCNT1):c.23508G>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.237C>T (p.Ser79=)

rs749179872

NM_020822.3(KCNT1):c.2388C>T (p.Tyr796=)


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>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.2427G>A (p.Thr809=)

rs914428

NM_020822.3(KCNT1):c.2451C>T (p.Phe817=)

rs942926305

NM_020822.3(KCNT1):c.2454C>T (p.Ile818=)

rs149452823

NM_020822.3(KCNT1):c.2475C>T (p.Tyr825=)


NM_020822.3(KCNT1):c.2502C>T (p.Ile834=)

rs139958448

NM_020822.3(KCNT1):c.2522+14G>A

rs947043112

NM_020822.3(KCNT1):c.2522+15G>A

rs1313134564

NM_020822.3(KCNT1):c.25236C>T

rs992509278

NM_020822.3(KCNT1):c.25237C>T

rs1287735480

NM_020822.3(KCNT1):c.252399C>A

rs146087255

NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn)


NM_020822.3(KCNT1):c.254+20delinsGGC

rs1554763415

NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)

rs149804567

NM_020822.3(KCNT1):c.25516CT[2]

rs760287830

NM_020822.3(KCNT1):c.2554T>A


NM_020822.3(KCNT1):c.2568C>T (p.Val856=)

rs1554777911

NM_020822.3(KCNT1):c.2580G>A (p.Glu860=)


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.259515C>T

rs1190489711

NM_020822.3(KCNT1):c.25958G>A


NM_020822.3(KCNT1):c.25959C>T

rs369966222

NM_020822.3(KCNT1):c.2598G>A (p.Leu866=)


NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)

rs144659358

NM_020822.3(KCNT1):c.261G>A (p.Gln87=)

rs777687658

NM_020822.3(KCNT1):c.2638C>T (p.Leu880=)

rs1588384964

NM_020822.3(KCNT1):c.2640G>C (p.Leu880=)

rs773647691

NM_020822.3(KCNT1):c.2649G>A (p.Val883=)


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.2691G>A (p.Ala897=)

rs142642528

NM_020822.3(KCNT1):c.2694C>T (p.Asp898=)

rs369904278

NM_020822.3(KCNT1):c.2712C>T (p.Asn904=)

rs554237279

NM_020822.3(KCNT1):c.2721C>T (p.Thr907=)

rs1588385244

NM_020822.3(KCNT1):c.2729+15C>T

rs200624821

NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)

rs151272083

NM_020822.3(KCNT1):c.273015G>A

rs539244041

NM_020822.3(KCNT1):c.27303C>T

rs1193875216

NM_020822.3(KCNT1):c.2739C>T (p.Pro913=)


NM_020822.3(KCNT1):c.273C>T (p.Tyr91=)

rs770619151

NM_020822.3(KCNT1):c.2757G>C (p.Thr919=)


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.2809A>G (p.Ser937Gly)

rs1554778379

NM_020822.3(KCNT1):c.2814C>T (p.Tyr938=)


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.2841+18G>A

rs763792397

NM_020822.3(KCNT1):c.2841+9C>A

rs1057523993

NM_020822.3(KCNT1):c.284215C>T

rs372262576

NM_020822.3(KCNT1):c.284218G>A

rs572059153

NM_020822.3(KCNT1):c.2847G>A (p.Glu949=)

rs779429071

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.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.2898C>T (p.Ala966=)

rs762968242

NM_020822.3(KCNT1):c.2904C>T (p.Arg968=)


NM_020822.3(KCNT1):c.2916C>T (p.Ile972=)

rs878855056

NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=)

rs1554779778

NM_020822.3(KCNT1):c.2943+6C>T

rs28612938

NM_020822.3(KCNT1):c.2943+7G>A

rs375869783

NM_020822.3(KCNT1):c.294419T>C

rs759060806

NM_020822.3(KCNT1):c.29443C>T

rs1554779944

NM_020822.3(KCNT1):c.294452CTCC[4]

rs55843930

NM_020822.3(KCNT1):c.294452CTCC[5]

rs55843930

NM_020822.3(KCNT1):c.294452CTCC[8]

rs55843930

NM_020822.3(KCNT1):c.294452CTCC[9]

rs55843930

NM_020822.3(KCNT1):c.294475C>T

rs192706978

NM_020822.3(KCNT1):c.2946C>T (p.Ser982=)


NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)

rs764574987

NM_020822.3(KCNT1):c.2973C>T (p.Ile991=)

rs781212036

NM_020822.3(KCNT1):c.2976C>T (p.Thr992=)


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.299G>A (p.Arg100Gln)

rs752032951

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.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.3027+14G>A

rs370564938

NM_020822.3(KCNT1):c.3027+18C>T

rs369541323

NM_020822.3(KCNT1):c.3027+18_3027+22del

rs778352896

NM_020822.3(KCNT1):c.3027+19G>A

rs778490327

NM_020822.3(KCNT1):c.302810C>G


NM_020822.3(KCNT1):c.302814T>G

rs539727852

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.3042G>A (p.Glu1014=)


NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=)

rs748942066

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.3072C>T (p.Arg1024=)

rs141695705

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.3100G>A (p.Ala1034Thr)

rs779961735

NM_020822.3(KCNT1):c.3102C>T (p.Ala1034=)


NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=)


NM_020822.3(KCNT1):c.3111C>T (p.Pro1037=)


NM_020822.3(KCNT1):c.3138C>T (p.His1046=)

rs138533589

NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)

rs765432746

NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)

rs141802876

NM_020822.3(KCNT1):c.3156+14C>G

rs555174141

NM_020822.3(KCNT1):c.3156+15T>C

rs910734807

NM_020822.3(KCNT1):c.3156+15_3156+37del

rs777726660

NM_020822.3(KCNT1):c.3156+8G>A

rs764262230

NM_020822.3(KCNT1):c.31578C>T

rs371874401

NM_020822.3(KCNT1):c.3162C>T (p.His1054=)

rs146272510

NM_020822.3(KCNT1):c.3177+129G>A

rs146429987

NM_020822.3(KCNT1):c.3177+16G>A

rs749539780

NM_020822.3(KCNT1):c.317810_31781dup

rs748283635

NM_020822.3(KCNT1):c.317816G>T

rs55906268

NM_020822.3(KCNT1):c.317826GCCCT[2]

rs757968008

NM_020822.3(KCNT1):c.317826GCCCT[6]

rs757968008

NM_020822.3(KCNT1):c.3189G>C (p.Ser1063=)


NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=)

rs777914546

NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=)

rs747248633

NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)

rs553389226

NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=)

rs375957383

NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)

rs200250181

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.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.3285C>T (p.Gly1095=)


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.3297C>T (p.Pro1099=)

rs759060691

NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)

rs1003586835

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.3317G>A (p.Arg1106Gln)

rs561255614

NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His)

rs756256138

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.33516G>A

rs151217665

NM_020822.3(KCNT1):c.3354G>A

rs372339395

NM_020822.3(KCNT1):c.3355C>T

rs745658927

NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=)

rs768977873

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.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.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.3435G>A (p.Glu1145=)

rs1373486252

NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)

rs368339692

NM_020822.3(KCNT1):c.3450C>A (p.Ser1150=)

rs757210594

NM_020822.3(KCNT1):c.3461A>G (p.Lys1154Arg)

rs779810960

NM_020822.3(KCNT1):c.3483G>T (p.Gly1161=)


NM_020822.3(KCNT1):c.3495C>A (p.Thr1165=)

rs374429090

NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=)

rs374429090

NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=)

rs773575309

NM_020822.3(KCNT1):c.3502+10C>T


NM_020822.3(KCNT1):c.3502+12C>T

rs367727105

NM_020822.3(KCNT1):c.3502+1584G>A

rs759235951

NM_020822.3(KCNT1):c.3502+17C>T

rs767500906

NM_020822.3(KCNT1):c.3502+18G>A

rs374991913

NM_020822.3(KCNT1):c.3502+9A>G


NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn)

rs747317425

NM_020822.3(KCNT1):c.350315C>T

rs373596158

NM_020822.3(KCNT1):c.350318C>T

rs373901872

NM_020822.3(KCNT1):c.350367G>A

rs139315777

NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=)

rs761504279

NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg)


NM_020822.3(KCNT1):c.3534C>A (p.Ser1178=)

rs1588422518

NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)


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>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.3579T>A (p.Ser1193Arg)


NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=)


NM_020822.3(KCNT1):c.3587+14G>A

rs765545901

NM_020822.3(KCNT1):c.3587+20T>G

rs374412920

NM_020822.3(KCNT1):c.3587+3G>A

rs1588422718

NM_020822.3(KCNT1):c.35883C>T

rs1222157071

NM_020822.3(KCNT1):c.35884G>A


NM_020822.3(KCNT1):c.35885C>T


NM_020822.3(KCNT1):c.3588C>T (p.Val1196=)


NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=)


NM_020822.3(KCNT1):c.3603C>T (p.Ser1201=)


NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=)

rs140628824

NM_020822.3(KCNT1):c.3609C>G (p.Pro1203=)

rs767668014

NM_020822.3(KCNT1):c.3612G>A (p.Leu1204=)

rs1554782422

NM_020822.3(KCNT1):c.3618C>T (p.His1206=)

rs577378740

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.3641G>A (p.Arg1214Gln)

rs138282349

NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=)


NM_020822.3(KCNT1):c.364C>T (p.Leu122=)


NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)


NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=)

rs755694160

NM_020822.3(KCNT1):c.3668C>T (p.Ser1223Leu)

rs779379200

NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=)


NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=)

rs556454353

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.3689G>A (p.Arg1230His)

rs776538404

NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)

rs141521745

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.399C>A (p.Arg133=)

rs377259793

NM_020822.3(KCNT1):c.399C>T (p.Arg133=)

rs377259793

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>T (p.Ile143=)


NM_020822.3(KCNT1):c.434+10G>A

rs187872786

NM_020822.3(KCNT1):c.434+15C>T

rs778629667

NM_020822.3(KCNT1):c.434+19C>T

rs772750955

NM_020822.3(KCNT1):c.43518C>T

rs1057523539

NM_020822.3(KCNT1):c.4356C>T


NM_020822.3(KCNT1):c.452A>G (p.Gln151Arg)


NM_020822.3(KCNT1):c.462C>T (p.Ser154=)


NM_020822.3(KCNT1):c.467A>G (p.Asn156Ser)


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.480C>T (p.Ser160=)

rs374042509

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.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.533C>T (p.Ala178Val)

rs141961737

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)


NM_020822.3(KCNT1):c.54116C>G

rs369006830

NM_020822.3(KCNT1):c.5417C>A

rs1489319809

NM_020822.3(KCNT1):c.54C>G (p.Arg18=)

rs754697766

NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser)


NM_020822.3(KCNT1):c.564C>T (p.Phe188=)

rs1588321872

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.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+8C>T

rs1588321982

NM_020822.3(KCNT1):c.60113C>G

rs202113794

NM_020822.3(KCNT1):c.60113C>T

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.625C>T (p.Arg209Cys)

rs568539413

NM_020822.3(KCNT1):c.626G>A (p.Arg209His)

rs756952430

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.675+10C>T


NM_020822.3(KCNT1):c.687G>A (p.Pro229=)


NM_020822.3(KCNT1):c.711C>T (p.Pro237=)

rs117286274

NM_020822.3(KCNT1):c.720G>C (p.Leu240=)


NM_020822.3(KCNT1):c.732G>A (p.Leu244=)

rs759580596

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.759+10G>A


NM_020822.3(KCNT1):c.759+13G>A

rs375237065

NM_020822.3(KCNT1):c.759+6C>T

rs1057522462

NM_020822.3(KCNT1):c.759+7C>T

rs779833209

NM_020822.3(KCNT1):c.760138C>T

rs11103170

NM_020822.3(KCNT1):c.760189_76098del

rs1564353623

NM_020822.3(KCNT1):c.76019G>A

rs375929015

NM_020822.3(KCNT1):c.760231G>A

rs10858165

NM_020822.3(KCNT1):c.7609C>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.777C>T (p.Ala259=)


NM_020822.3(KCNT1):c.781C>T (p.Leu261=)

rs1588327182

NM_020822.3(KCNT1):c.804C>T (p.Phe268=)


NM_020822.3(KCNT1):c.81C>T (p.Phe27=)


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.854+10G>A

rs146470183

NM_020822.3(KCNT1):c.854+7G>A

rs1298118251

NM_020822.3(KCNT1):c.854+9C>T

rs370686981

NM_020822.3(KCNT1):c.85510G>A

rs1057521940

NM_020822.3(KCNT1):c.8557G>A

rs768046676

NM_020822.3(KCNT1):c.861C>T (p.Cys287=)

rs750884338

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.889G>A (p.Glu297Lys)

rs146070496

NM_020822.3(KCNT1):c.897G>A (p.Leu299=)


NM_020822.3(KCNT1):c.903C>T (p.Leu301=)

rs1588330751

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.942C>T (p.Thr314=)

rs144766991

NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys)

rs754823810

NM_020822.3(KCNT1):c.951C>T (p.Tyr317=)

rs747685419

NM_020822.3(KCNT1):c.957C>T (p.Asp319=)

rs148562086

NM_020822.3(KCNT1):c.963G>A (p.Thr321=)

rs760300415

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>T (p.Ile333=)

rs764327750

NM_020822.3(KCNT1):c.99A>G (p.Gln33=)

rs146152956
