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.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.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.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.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.880C>T (p.Arg294Trp)
|
rs369101729
|
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.111-2A>T
|
rs1382443844
|
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.1402-8C>T
|
rs1303785635
|
0.00001
|
NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr)
|
rs144956052
|
0.00001
|
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val)
|
rs762875063
|
0.00001
|
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr)
|
rs577633745
|
0.00001
|
NM_020822.3(KCNT1):c.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_000009.11:g.(?_138662683)_(138662961_?)del
|
|
|
NC_000009.11:g.(?_138676361)_(138676484_?)del
|
|
|
NC_000009.11:g.(?_138676361)_(138676755_?)dup
|
|
|
NC_000009.11:g.(?_138683623)_(138684007_?)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.1049T>C (p.Val350Ala)
|
rs1329791962
|
|
NM_020822.3(KCNT1):c.104C>A (p.Ala35Asp)
|
|
|
NM_020822.3(KCNT1):c.1054C>G (p.Leu352Val)
|
|
|
NM_020822.3(KCNT1):c.1059G>C (p.Trp353Cys)
|
|
|
NM_020822.3(KCNT1):c.1060A>G (p.Met354Val)
|
rs2131473380
|
|
NM_020822.3(KCNT1):c.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.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.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.1510+8T>G
|
|
|
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.2126G>A (p.Ser709Asn)
|
|
|
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.2166_2170del (p.Pro724fs)
|
rs1832854272
|
|
NM_020822.3(KCNT1):c.2168_2175dup (p.Asp726fs)
|
|
|
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup)
|
rs757605635
|
|
NM_020822.3(KCNT1):c.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.2323C>G (p.Pro775Ala)
|
rs751320619
|
|
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del)
|
rs1390654782
|
|
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.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.2464C>T (p.Arg822Trp)
|
rs746067661
|
|
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.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.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.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.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.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.3046G>T (p.Asp1016Tyr)
|
rs779908455
|
|
NM_020822.3(KCNT1):c.304A>G (p.Lys102Glu)
|
|
|
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro)
|
rs1450164108
|
|
NM_020822.3(KCNT1):c.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.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.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>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.3544A>C (p.Ile1182Leu)
|
rs1161862851
|
|
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.980C>T (p.Ser327Leu)
|
rs1340962392
|
|
NM_020822.3(KCNT1):c.997A>T (p.Ile333Phe)
|
|
|
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met)
|
rs764327750
|
|