NM_020822.3(KCNT1):c.1769+16A>G
|
rs10776844
|
0.72033
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
NM_020822.3(KCNT1):c.600+59A>C
|
rs59909130
|
0.57178
|
NM_020822.3(KCNT1):c.600+60G>A
|
rs56375931
|
0.51258
|
NM_020822.3(KCNT1):c.434+25C>A
|
rs10122976
|
0.47340
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
NM_020822.3(KCNT1):c.254+20T>C
|
rs2385007
|
0.27844
|
NM_020822.3(KCNT1):c.1200+12T>G
|
rs58604946
|
0.23256
|
NM_020822.3(KCNT1):c.2008+21G>A
|
rs7869884
|
0.16982
|
NM_020822.3(KCNT1):c.2944-19T>C
|
rs759060806
|
0.12219
|
NM_020822.3(KCNT1):c.978A>G (p.Pro326=)
|
rs61739517
|
0.02678
|
NM_020822.3(KCNT1):c.1036-15G>A
|
rs112341167
|
0.02567
|
NM_020822.3(KCNT1):c.3502+16G>A
|
rs112116686
|
0.01447
|
NM_020822.3(KCNT1):c.2943+6C>T
|
rs28612938
|
0.01429
|
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met)
|
rs61744696
|
0.01246
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=)
|
rs116691849
|
0.00907
|
NM_020822.3(KCNT1):c.2729+9A>G
|
rs12005420
|
0.00858
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
NM_020822.3(KCNT1):c.30G>A (p.Pro10=)
|
rs139034501
|
0.00419
|
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)
|
rs201051863
|
0.00399
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)
|
rs151080601
|
0.00325
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=)
|
rs139114208
|
0.00243
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)
|
rs141521745
|
0.00185
|
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val)
|
rs143704418
|
0.00182
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val)
|
rs200250181
|
0.00159
|
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=)
|
rs146904895
|
0.00143
|
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=)
|
rs77912754
|
0.00140
|
NM_020822.3(KCNT1):c.435-17G>A
|
rs140115987
|
0.00140
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00098
|
NM_020822.3(KCNT1):c.2350-8G>A
|
rs371678685
|
0.00096
|
NM_020822.3(KCNT1):c.985C>T (p.Leu329=)
|
rs147165522
|
0.00093
|
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)
|
rs143355299
|
0.00090
|
NM_020822.3(KCNT1):c.1134C>T (p.Val378=)
|
rs149960236
|
0.00088
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
NM_020822.3(KCNT1):c.3157-8C>T
|
rs371874401
|
0.00088
|
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)
|
rs143198263
|
0.00087
|
NM_020822.3(KCNT1):c.854+10G>A
|
rs146470183
|
0.00087
|
NM_020822.3(KCNT1):c.2842-15C>T
|
rs372262576
|
0.00083
|
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=)
|
rs140628824
|
0.00081
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_020822.3(KCNT1):c.1619+18C>T
|
rs183348093
|
0.00074
|
NM_020822.3(KCNT1):c.3503-18C>T
|
rs373901872
|
0.00068
|
NM_020822.3(KCNT1):c.601-13C>G
|
rs202113794
|
0.00068
|
NM_020822.3(KCNT1):c.1770-16C>T
|
rs192658955
|
0.00059
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)
|
rs144659358
|
0.00055
|
NM_020822.3(KCNT1):c.3028-14T>G
|
rs539727852
|
0.00050
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys)
|
rs144679713
|
0.00047
|
NM_020822.3(KCNT1):c.3502+12C>T
|
rs367727105
|
0.00043
|
NM_020822.3(KCNT1):c.760-19G>A
|
rs375929015
|
0.00043
|
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)
|
rs370155559
|
0.00041
|
NM_020822.3(KCNT1):c.-1C>A
|
rs149383208
|
0.00039
|
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp)
|
rs370085077
|
0.00037
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=)
|
rs150905302
|
0.00034
|
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=)
|
rs142642528
|
0.00034
|
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=)
|
rs149049198
|
0.00034
|
NM_020822.3(KCNT1):c.957C>T (p.Asp319=)
|
rs148562086
|
0.00033
|
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=)
|
rs199996353
|
0.00032
|
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg)
|
rs200173000
|
0.00032
|
NM_020822.3(KCNT1):c.1338-3C>T
|
rs369562243
|
0.00031
|
NM_020822.3(KCNT1):c.2008+7C>T
|
rs372707698
|
0.00030
|
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=)
|
rs374347802
|
0.00030
|
NM_020822.3(KCNT1):c.334+10G>A
|
rs185209587
|
0.00029
|
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=)
|
rs144068763
|
0.00028
|
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)
|
rs146032445
|
0.00027
|
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=)
|
rs142726010
|
0.00027
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=)
|
rs149452823
|
0.00026
|
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser)
|
rs1201438079
|
0.00026
|
NM_020822.3(KCNT1):c.467A>G (p.Asn156Ser)
|
rs200632957
|
0.00026
|
NM_020822.3(KCNT1):c.759+13G>A
|
rs375237065
|
0.00026
|
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)
|
rs138352399
|
0.00025
|
NM_020822.3(KCNT1):c.1511-4G>A
|
rs368480443
|
0.00024
|
NM_020822.3(KCNT1):c.3162C>T (p.His1054=)
|
rs146272510
|
0.00024
|
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=)
|
rs374429090
|
0.00024
|
NM_020822.3(KCNT1):c.3502+18G>A
|
rs374991913
|
0.00024
|
NM_020822.3(KCNT1):c.1620-16C>G
|
rs369334561
|
0.00023
|
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)
|
rs138109494
|
0.00023
|
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=)
|
rs540422455
|
0.00021
|
NM_020822.3(KCNT1):c.1620-17C>T
|
rs376069264
|
0.00021
|
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)
|
rs141281093
|
0.00021
|
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=)
|
rs111647144
|
0.00021
|
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met)
|
rs559344618
|
0.00021
|
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=)
|
rs377516058
|
0.00020
|
NM_020822.3(KCNT1):c.3027+18C>T
|
rs369541323
|
0.00019
|
NM_020822.3(KCNT1):c.3178-16G>T
|
rs55906268
|
0.00019
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)
|
rs143780942
|
0.00018
|
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile)
|
rs143536408
|
0.00018
|
NM_020822.3(KCNT1):c.867C>A (p.Ile289=)
|
rs761045901
|
0.00018
|
NM_020822.3(KCNT1):c.2008+19G>A
|
rs369119562
|
0.00016
|
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=)
|
rs766746716
|
0.00016
|
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu)
|
rs148162797
|
0.00016
|
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=)
|
rs376167145
|
0.00016
|
NM_020822.3(KCNT1):c.585C>T (p.Ile195=)
|
rs148910448
|
0.00016
|
NM_020822.3(KCNT1):c.2350-10C>T
|
rs367855961
|
0.00015
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
0.00014
|
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=)
|
rs373444768
|
0.00014
|
NM_020822.3(KCNT1):c.1852G>A (p.Ala618Thr)
|
rs756996609
|
0.00014
|
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys)
|
rs747605326
|
0.00014
|
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=)
|
rs766717782
|
0.00014
|
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=)
|
rs765774534
|
0.00014
|
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)
|
rs561255614
|
0.00014
|
NM_020822.3(KCNT1):c.708C>T (p.Ile236=)
|
rs148038658
|
0.00014
|
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=)
|
rs144977019
|
0.00012
|
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=)
|
rs372491855
|
0.00012
|
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=)
|
rs142534422
|
0.00012
|
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)
|
rs371135108
|
0.00012
|
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys)
|
rs372028322
|
0.00012
|
NM_020822.3(KCNT1):c.477C>G (p.Ser159=)
|
rs200157100
|
0.00012
|
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=)
|
rs763854215
|
0.00011
|
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=)
|
rs372250372
|
0.00011
|
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=)
|
rs745575483
|
0.00011
|
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
|
rs143678590
|
0.00011
|
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=)
|
rs373503298
|
0.00011
|
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=)
|
rs762968242
|
0.00011
|
NM_020822.3(KCNT1):c.1337+16C>T
|
rs369329858
|
0.00010
|
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=)
|
rs373520472
|
0.00010
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met)
|
rs377506738
|
0.00010
|
NM_020822.3(KCNT1):c.601-12G>A
|
rs765238793
|
0.00010
|
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=)
|
rs375534850
|
0.00009
|
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg)
|
rs148808978
|
0.00009
|
NM_020822.3(KCNT1):c.2008+10G>C
|
rs752453368
|
0.00009
|
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)
|
rs376314779
|
0.00009
|
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=)
|
rs150222138
|
0.00009
|
NM_020822.3(KCNT1):c.2349+11C>T
|
rs374140862
|
0.00009
|
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn)
|
rs376758763
|
0.00009
|
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=)
|
rs201120894
|
0.00009
|
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=)
|
rs148001061
|
0.00009
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00009
|
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=)
|
rs368477306
|
0.00008
|
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=)
|
rs371913299
|
0.00008
|
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)
|
rs575162600
|
0.00008
|
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=)
|
rs139958448
|
0.00008
|
NM_020822.3(KCNT1):c.2730-15G>A
|
rs539244041
|
0.00008
|
NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=)
|
rs760974671
|
0.00008
|
NM_020822.3(KCNT1):c.3138C>T (p.His1046=)
|
rs138533589
|
0.00008
|
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=)
|
rs371632359
|
0.00008
|
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=)
|
rs372410150
|
0.00008
|
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=)
|
rs758308334
|
0.00008
|
NM_020822.3(KCNT1):c.434+10G>A
|
rs187872786
|
0.00008
|
NM_020822.3(KCNT1):c.1036-12T>G
|
rs113079797
|
0.00007
|
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs)
|
rs796214553
|
0.00007
|
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=)
|
rs576446992
|
0.00007
|
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His)
|
rs769855266
|
0.00007
|
NM_020822.3(KCNT1):c.1769+8C>T
|
rs371287985
|
0.00007
|
NM_020822.3(KCNT1):c.1770-15G>A
|
rs746828967
|
0.00007
|
NM_020822.3(KCNT1):c.2482C>T (p.Arg828Cys)
|
rs370800291
|
0.00007
|
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=)
|
rs147671362
|
0.00007
|
NM_020822.3(KCNT1):c.2944-17C>T
|
rs1255015458
|
0.00007
|
NM_020822.3(KCNT1):c.335-16G>A
|
rs151217665
|
0.00007
|
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His)
|
rs776538404
|
0.00007
|
NM_020822.3(KCNT1):c.435-12G>C
|
rs367739886
|
0.00007
|
NM_020822.3(KCNT1):c.480C>T (p.Ser160=)
|
rs374042509
|
0.00007
|
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys)
|
rs568539413
|
0.00007
|
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met)
|
rs376583438
|
0.00007
|
NM_020822.3(KCNT1):c.854+9C>T
|
rs370686981
|
0.00007
|
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=)
|
rs374015551
|
0.00006
|
NM_020822.3(KCNT1):c.1200+15C>T
|
rs138631641
|
0.00006
|
NM_020822.3(KCNT1):c.1201-6C>T
|
rs543464639
|
0.00006
|
NM_020822.3(KCNT1):c.1326C>A (p.Leu442=)
|
rs200910140
|
0.00006
|
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu)
|
rs201908490
|
0.00006
|
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser)
|
rs200137341
|
0.00006
|
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=)
|
rs537431085
|
0.00006
|
NM_020822.3(KCNT1):c.1962C>T (p.His654=)
|
rs141759469
|
0.00006
|
NM_020822.3(KCNT1):c.2152G>A (p.Asp718Asn)
|
rs777958749
|
0.00006
|
NM_020822.3(KCNT1):c.2630C>T (p.Ala877Val)
|
rs774033346
|
0.00006
|
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=)
|
rs765403435
|
0.00006
|
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)
|
rs376757326
|
0.00006
|
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=)
|
rs770619151
|
0.00006
|
NM_020822.3(KCNT1):c.279C>T (p.Asn93=)
|
rs183022730
|
0.00006
|
NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=)
|
rs368875875
|
0.00006
|
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)
|
rs141802876
|
0.00006
|
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
|
rs373041291
|
0.00006
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln)
|
rs758311066
|
0.00006
|
NM_020822.3(KCNT1):c.335-4G>A
|
rs372339395
|
0.00006
|
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=)
|
rs773575309
|
0.00006
|
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)
|
rs147654995
|
0.00006
|
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=)
|
rs556454353
|
0.00006
|
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val)
|
rs141961737
|
0.00006
|
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val)
|
rs368870705
|
0.00006
|
NM_020822.3(KCNT1):c.744G>A (p.Ala248=)
|
rs145697148
|
0.00006
|
NM_020822.3(KCNT1):c.963G>A (p.Thr321=)
|
rs760300415
|
0.00006
|
NM_020822.3(KCNT1):c.1035+17C>T
|
rs375391930
|
0.00005
|
NM_020822.3(KCNT1):c.110+1G>C
|
rs780331569
|
0.00005
|
NM_020822.3(KCNT1):c.1337+7G>A
|
rs374975940
|
0.00005
|
NM_020822.3(KCNT1):c.1402-5G>A
|
rs573411729
|
0.00005
|
NM_020822.3(KCNT1):c.1402-6C>T
|
rs755796820
|
0.00005
|
NM_020822.3(KCNT1):c.1510+4C>T
|
rs554828530
|
0.00005
|
NM_020822.3(KCNT1):c.1689C>T (p.His563=)
|
rs765616016
|
0.00005
|
NM_020822.3(KCNT1):c.2008+20C>T
|
rs371649094
|
0.00005
|
NM_020822.3(KCNT1):c.2349+12G>A
|
rs769180254
|
0.00005
|
NM_020822.3(KCNT1):c.2841+11C>T
|
rs901557898
|
0.00005
|
NM_020822.3(KCNT1):c.309G>T (p.Leu103=)
|
rs767894239
|
0.00005
|
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr)
|
rs769422518
|
0.00005
|
NM_020822.3(KCNT1):c.335-5C>T
|
rs745658927
|
0.00005
|
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)
|
rs368339692
|
0.00005
|
NM_020822.3(KCNT1):c.3502+17C>T
|
rs767500906
|
0.00005
|
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp)
|
rs150447764
|
0.00005
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
NM_020822.3(KCNT1):c.676-4A>G
|
rs780921786
|
0.00005
|
NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile)
|
rs143015526
|
0.00005
|
NM_020822.3(KCNT1):c.1047C>T (p.Leu349=)
|
rs370414453
|
0.00004
|
NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=)
|
rs973806258
|
0.00004
|
NM_020822.3(KCNT1):c.110+11del
|
rs1464834508
|
0.00004
|
NM_020822.3(KCNT1):c.110+12T>G
|
rs1186799198
|
0.00004
|
NM_020822.3(KCNT1):c.1119C>T (p.His373=)
|
rs1052932341
|
0.00004
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
NM_020822.3(KCNT1):c.1201-5G>A
|
rs766093946
|
0.00004
|
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=)
|
rs373948466
|
0.00004
|
NM_020822.3(KCNT1):c.1497C>T (p.His499=)
|
rs754670800
|
0.00004
|
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=)
|
rs368876173
|
0.00004
|
NM_020822.3(KCNT1):c.1620-14G>A
|
rs754311028
|
0.00004
|
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)
|
rs769406687
|
0.00004
|
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe)
|
rs950983477
|
0.00004
|
NM_020822.3(KCNT1):c.1833G>A (p.Gly611=)
|
rs755787639
|
0.00004
|
NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu)
|
rs747671066
|
0.00004
|
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=)
|
rs533528985
|
0.00004
|
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)
|
rs376231681
|
0.00004
|
NM_020822.3(KCNT1):c.2008+18C>T
|
rs370292952
|
0.00004
|
NM_020822.3(KCNT1):c.2008+8G>A
|
rs759334176
|
0.00004
|
NM_020822.3(KCNT1):c.2009-18C>T
|
rs1457591989
|
0.00004
|
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=)
|
rs148928475
|
0.00004
|
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)
|
rs144118960
|
0.00004
|
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu)
|
rs775923151
|
0.00004
|
NM_020822.3(KCNT1):c.231C>T (p.Asp77=)
|
rs370998066
|
0.00004
|
NM_020822.3(KCNT1):c.2388C>T (p.Tyr796=)
|
rs530678159
|
0.00004
|
NM_020822.3(KCNT1):c.2523-6C>T
|
rs992509278
|
0.00004
|
NM_020822.3(KCNT1):c.2594+17C>T
|
rs370941241
|
0.00004
|
NM_020822.3(KCNT1):c.2594+18G>A
|
rs374664484
|
0.00004
|
NM_020822.3(KCNT1):c.2594+7C>T
|
rs545094921
|
0.00004
|
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=)
|
rs775752475
|
0.00004
|
NM_020822.3(KCNT1):c.2841+10C>T
|
rs765179799
|
0.00004
|
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=)
|
rs369519989
|
0.00004
|
NM_020822.3(KCNT1):c.2943+7G>A
|
rs375869783
|
0.00004
|
NM_020822.3(KCNT1):c.2944-18C>G
|
rs1361654206
|
0.00004
|
NM_020822.3(KCNT1):c.3006G>A (p.Pro1002=)
|
rs377162900
|
0.00004
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
0.00004
|
NM_020822.3(KCNT1):c.3111C>T (p.Pro1037=)
|
rs778321915
|
0.00004
|
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
|
rs375749415
|
0.00004
|
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn)
|
rs537379253
|
0.00004
|
NM_020822.3(KCNT1):c.3240C>T (p.Gly1080=)
|
rs766038759
|
0.00004
|
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His)
|
rs760151844
|
0.00004
|
NM_020822.3(KCNT1):c.3285C>T (p.Gly1095=)
|
rs778877333
|
0.00004
|
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser)
|
rs748115007
|
0.00004
|
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)
|
rs199779214
|
0.00004
|
NM_020822.3(KCNT1):c.3381G>A (p.Ala1127=)
|
rs762220012
|
0.00004
|
NM_020822.3(KCNT1):c.3384G>A (p.Ala1128=)
|
rs760868141
|
0.00004
|
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=)
|
rs757210594
|
0.00004
|
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=)
|
rs761504279
|
0.00004
|
NM_020822.3(KCNT1):c.3505G>A (p.Glu1169Lys)
|
rs768746178
|
0.00004
|
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met)
|
rs370090905
|
0.00004
|
NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg)
|
rs142340167
|
0.00004
|
NM_020822.3(KCNT1):c.3588-4G>A
|
rs754639389
|
0.00004
|
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser)
|
rs779262121
|
0.00004
|
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)
|
rs753714293
|
0.00004
|
NM_020822.3(KCNT1):c.601-20T>C
|
rs774722496
|
0.00004
|
NM_020822.3(KCNT1):c.690G>A (p.Pro230=)
|
rs565506288
|
0.00004
|
NM_020822.3(KCNT1):c.759+7C>T
|
rs779833209
|
0.00004
|
NM_020822.3(KCNT1):c.111-8G>A
|
rs779128853
|
0.00003
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
NM_020822.3(KCNT1):c.1122G>T (p.Val374=)
|
rs774643792
|
0.00003
|
NM_020822.3(KCNT1):c.1188C>T (p.His396=)
|
rs544796091
|
0.00003
|
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys)
|
rs773228285
|
0.00003
|
NM_020822.3(KCNT1):c.1338-4G>A
|
rs963826986
|
0.00003
|
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=)
|
rs777870376
|
0.00003
|
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln)
|
rs537722828
|
0.00003
|
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=)
|
rs765534465
|
0.00003
|
NM_020822.3(KCNT1):c.1593C>T (p.Thr531=)
|
rs749641549
|
0.00003
|
NM_020822.3(KCNT1):c.1620-15C>T
|
rs766797836
|
0.00003
|
NM_020822.3(KCNT1):c.1623G>A (p.Glu541=)
|
rs758644634
|
0.00003
|
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu)
|
rs770986306
|
0.00003
|
NM_020822.3(KCNT1):c.1677C>T (p.Asn559=)
|
rs1028802868
|
0.00003
|
NM_020822.3(KCNT1):c.1680G>A (p.Glu560=)
|
rs143983055
|
0.00003
|
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met)
|
rs779590747
|
0.00003
|
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=)
|
rs1060505001
|
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.2076C>T (p.Gly692=)
|
rs1267885761
|
0.00003
|
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=)
|
rs762620377
|
0.00003
|
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=)
|
rs767200583
|
0.00003
|
NM_020822.3(KCNT1):c.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.2271G>A (p.Ser757=)
|
rs374981764
|
0.00003
|
NM_020822.3(KCNT1):c.233C>T (p.Pro78Leu)
|
rs771096934
|
0.00003
|
NM_020822.3(KCNT1):c.237C>T (p.Ser79=)
|
rs749179872
|
0.00003
|
NM_020822.3(KCNT1):c.2526C>T (p.Pro842=)
|
rs776258175
|
0.00003
|
NM_020822.3(KCNT1):c.2706C>T (p.Ile902=)
|
rs934780855
|
0.00003
|
NM_020822.3(KCNT1):c.2729+16G>A
|
rs373773787
|
0.00003
|
NM_020822.3(KCNT1):c.2729+19G>A
|
rs369987473
|
0.00003
|
NM_020822.3(KCNT1):c.2841+18G>A
|
rs763792397
|
0.00003
|
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=)
|
rs576099213
|
0.00003
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
|
rs1313669242
|
0.00003
|
NM_020822.3(KCNT1):c.3157-17G>A
|
rs753593622
|
0.00003
|
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=)
|
rs948170691
|
0.00003
|
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys)
|
rs1060503695
|
0.00003
|
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His)
|
rs369576806
|
0.00003
|
NM_020822.3(KCNT1):c.3297C>T (p.Pro1099=)
|
rs759060691
|
0.00003
|
NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg)
|
rs775015763
|
0.00003
|
NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His)
|
rs568818508
|
0.00003
|
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=)
|
rs149927148
|
0.00003
|
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe)
|
rs769083534
|
0.00003
|
NM_020822.3(KCNT1):c.600+9C>T
|
rs1287458024
|
0.00003
|
NM_020822.3(KCNT1):c.60G>A (p.Gly20=)
|
rs777349172
|
0.00003
|
NM_020822.3(KCNT1):c.675G>A (p.Thr225=)
|
rs773255063
|
0.00003
|
NM_020822.3(KCNT1):c.732G>A (p.Leu244=)
|
rs759580596
|
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.1038C>T (p.Phe346=)
|
rs767434859
|
0.00002
|
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)
|
rs772080195
|
0.00002
|
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=)
|
rs777409717
|
0.00002
|
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val)
|
rs928555901
|
0.00002
|
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=)
|
rs749974440
|
0.00002
|
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp)
|
rs779209462
|
0.00002
|
NM_020822.3(KCNT1):c.1201-13G>A
|
rs576149390
|
0.00002
|
NM_020822.3(KCNT1):c.1201-14C>T
|
rs767283074
|
0.00002
|
NM_020822.3(KCNT1):c.1230G>A (p.Thr410=)
|
rs778178642
|
0.00002
|
NM_020822.3(KCNT1):c.1328T>C (p.Met443Thr)
|
rs763557773
|
0.00002
|
NM_020822.3(KCNT1):c.1359C>T (p.Cys453=)
|
rs1455107112
|
0.00002
|
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile)
|
rs368322298
|
0.00002
|
NM_020822.3(KCNT1):c.147C>T (p.Thr49=)
|
rs751274694
|
0.00002
|
NM_020822.3(KCNT1):c.1511-15C>T
|
rs1233580407
|
0.00002
|
NM_020822.3(KCNT1):c.1515C>T (p.His505=)
|
rs148302564
|
0.00002
|
NM_020822.3(KCNT1):c.1554G>A (p.Ala518=)
|
rs756721305
|
0.00002
|
NM_020822.3(KCNT1):c.1563C>T (p.Cys521=)
|
rs377263803
|
0.00002
|
NM_020822.3(KCNT1):c.15C>T (p.Asp5=)
|
rs771669111
|
0.00002
|
NM_020822.3(KCNT1):c.1619+11C>T
|
rs773278543
|
0.00002
|
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys)
|
rs774249834
|
0.00002
|
NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg)
|
rs773874266
|
0.00002
|
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys)
|
rs557219607
|
0.00002
|
NM_020822.3(KCNT1):c.1758C>T (p.His586=)
|
rs142760483
|
0.00002
|
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr)
|
rs144421853
|
0.00002
|
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=)
|
rs376892911
|
0.00002
|
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)
|
rs571757257
|
0.00002
|
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)
|
rs1208098376
|
0.00002
|
NM_020822.3(KCNT1):c.1890G>A (p.Glu630=)
|
rs1326023054
|
0.00002
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
NM_020822.3(KCNT1):c.1940C>T (p.Ala647Val)
|
rs550751778
|
0.00002
|
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=)
|
rs779903423
|
0.00002
|
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
|
rs536588045
|
0.00002
|
NM_020822.3(KCNT1):c.2008+9G>T
|
rs375088109
|
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.2104G>A (p.Gly702Ser)
|
rs550447485
|
0.00002
|
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
|
rs772800657
|
0.00002
|
NM_020822.3(KCNT1):c.219G>A (p.Leu73=)
|
rs758602991
|
0.00002
|
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu)
|
rs760032575
|
0.00002
|
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val)
|
rs777479133
|
0.00002
|
NM_020822.3(KCNT1):c.2349+20C>T
|
rs375666062
|
0.00002
|
NM_020822.3(KCNT1):c.2350-13C>T
|
rs374333732
|
0.00002
|
NM_020822.3(KCNT1):c.2403G>A (p.Lys801=)
|
rs761739057
|
0.00002
|
NM_020822.3(KCNT1):c.2460A>G (p.Pro820=)
|
rs1219349050
|
0.00002
|
NM_020822.3(KCNT1):c.254+10G>C
|
rs772892562
|
0.00002
|
NM_020822.3(KCNT1):c.254+6G>C
|
rs923032212
|
0.00002
|
NM_020822.3(KCNT1):c.2580G>A (p.Glu860=)
|
rs763685503
|
0.00002
|
NM_020822.3(KCNT1):c.2595-8G>A
|
rs779012524
|
0.00002
|
NM_020822.3(KCNT1):c.2649G>A (p.Val883=)
|
rs766768602
|
0.00002
|
NM_020822.3(KCNT1):c.270C>T (p.Phe90=)
|
rs930841801
|
0.00002
|
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=)
|
rs554237279
|
0.00002
|
NM_020822.3(KCNT1):c.2730-16C>T
|
rs571787446
|
0.00002
|
NM_020822.3(KCNT1):c.2730-3C>T
|
rs1193875216
|
0.00002
|
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=)
|
rs776550763
|
0.00002
|
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)
|
rs764574987
|
0.00002
|
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His)
|
rs776239808
|
0.00002
|
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
|
rs553389226
|
0.00002
|
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
|
rs776232246
|
0.00002
|
NM_020822.3(KCNT1):c.3247G>A (p.Ala1083Thr)
|
rs917893164
|
0.00002
|
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His)
|
rs756256138
|
0.00002
|
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val)
|
rs745484103
|
0.00002
|
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp)
|
rs763400879
|
0.00002
|
NM_020822.3(KCNT1):c.3377G>A (p.Arg1126Gln)
|
rs769135500
|
0.00002
|
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val)
|
rs774589071
|
0.00002
|
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=)
|
rs781111074
|
0.00002
|
NM_020822.3(KCNT1):c.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.3502+10C>T
|
rs771187830
|
0.00002
|
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn)
|
rs747317425
|
0.00002
|
NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg)
|
rs761270493
|
0.00002
|
NM_020822.3(KCNT1):c.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.626G>A (p.Arg209His)
|
rs756952430
|
0.00002
|
NM_020822.3(KCNT1):c.712G>A (p.Val238Ile)
|
rs760870883
|
0.00002
|
NM_020822.3(KCNT1):c.762T>C (p.Asn254=)
|
rs1481356544
|
0.00002
|
NM_020822.3(KCNT1):c.843C>T (p.Leu281=)
|
rs780294486
|
0.00002
|
NM_020822.3(KCNT1):c.852G>A (p.Thr284=)
|
rs773023899
|
0.00002
|
NM_020822.3(KCNT1):c.854+14G>A
|
rs367694801
|
0.00002
|
NM_020822.3(KCNT1):c.879G>A (p.Glu293=)
|
rs557092185
|
0.00002
|
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)
|
rs146070496
|
0.00002
|
NM_020822.3(KCNT1):c.93C>T (p.Asp31=)
|
rs145033597
|
0.00002
|
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=)
|
rs747685419
|
0.00002
|
NM_020822.3(KCNT1):c.958G>A (p.Val320Ile)
|
rs773718324
|
0.00002
|
NM_020822.3(KCNT1):c.999C>T (p.Ile333=)
|
rs764327750
|
0.00002
|
NM_020822.3(KCNT1):c.1093C>T (p.Arg365Cys)
|
rs751116785
|
0.00001
|
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser)
|
rs778405770
|
0.00001
|
NM_020822.3(KCNT1):c.110+5A>G
|
rs768926196
|
0.00001
|
NM_020822.3(KCNT1):c.110+9T>A
|
rs761910853
|
0.00001
|
NM_020822.3(KCNT1):c.1101T>A (p.Arg367=)
|
rs553751644
|
0.00001
|
NM_020822.3(KCNT1):c.1109C>T (p.Thr370Met)
|
rs1284049151
|
0.00001
|
NM_020822.3(KCNT1):c.111-2A>T
|
rs1382443844
|
0.00001
|
NM_020822.3(KCNT1):c.1113G>A (p.Glu371=)
|
rs1217096141
|
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.1167C>T (p.Phe389=)
|
rs868420087
|
0.00001
|
NM_020822.3(KCNT1):c.1176G>A (p.Glu392=)
|
rs149085499
|
0.00001
|
NM_020822.3(KCNT1):c.1200+16G>A
|
rs542132567
|
0.00001
|
NM_020822.3(KCNT1):c.1200+7C>T
|
rs1291798500
|
0.00001
|
NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=)
|
rs374653926
|
0.00001
|
NM_020822.3(KCNT1):c.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.1257C>G (p.Val419=)
|
rs547714141
|
0.00001
|
NM_020822.3(KCNT1):c.1336A>C (p.Lys446Gln)
|
rs144824627
|
0.00001
|
NM_020822.3(KCNT1):c.1337+17G>A
|
rs780243563
|
0.00001
|
NM_020822.3(KCNT1):c.1337+19A>G
|
rs1373490805
|
0.00001
|
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser)
|
rs1336529060
|
0.00001
|
NM_020822.3(KCNT1):c.1347T>C (p.Asn449=)
|
rs1383981222
|
0.00001
|
NM_020822.3(KCNT1):c.1356C>G (p.Ala452=)
|
rs138306663
|
0.00001
|
NM_020822.3(KCNT1):c.1365C>T (p.Ile455=)
|
rs1305510057
|
0.00001
|
NM_020822.3(KCNT1):c.1380C>T (p.Asn460=)
|
rs566700584
|
0.00001
|
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln)
|
rs141311481
|
0.00001
|
NM_020822.3(KCNT1):c.1401+9G>A
|
rs1260793909
|
0.00001
|
NM_020822.3(KCNT1):c.1402-8C>T
|
rs1303785635
|
0.00001
|
NM_020822.3(KCNT1):c.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.1464C>T (p.Tyr488=)
|
rs375585422
|
0.00001
|
NM_020822.3(KCNT1):c.1476C>T (p.Leu492=)
|
rs756062584
|
0.00001
|
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)
|
rs778483249
|
0.00001
|
NM_020822.3(KCNT1):c.1511-5C>T
|
rs546333402
|
0.00001
|
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met)
|
rs905524850
|
0.00001
|
NM_020822.3(KCNT1):c.1521G>A (p.Val507=)
|
rs759337224
|
0.00001
|
NM_020822.3(KCNT1):c.1524T>C (p.Cys508=)
|
rs1328119218
|
0.00001
|
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=)
|
rs113333501
|
0.00001
|
NM_020822.3(KCNT1):c.1575G>A (p.Ala525=)
|
rs566045604
|
0.00001
|
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile)
|
rs753874335
|
0.00001
|
NM_020822.3(KCNT1):c.1605C>T (p.His535=)
|
rs1339025046
|
0.00001
|
NM_020822.3(KCNT1):c.1608G>A (p.Thr536=)
|
rs768778333
|
0.00001
|
NM_020822.3(KCNT1):c.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.1620-13C>T
|
rs1255165614
|
0.00001
|
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His)
|
rs764477306
|
0.00001
|
NM_020822.3(KCNT1):c.1671C>T (p.Ser557=)
|
rs772929290
|
0.00001
|
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val)
|
rs781375160
|
0.00001
|
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser)
|
rs1220099278
|
0.00001
|
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=)
|
rs763438119
|
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.1769+9G>A
|
rs758402819
|
0.00001
|
NM_020822.3(KCNT1):c.1770-14G>A
|
rs756948128
|
0.00001
|
NM_020822.3(KCNT1):c.1770-4C>G
|
rs1422786351
|
0.00001
|
NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn)
|
rs762247965
|
0.00001
|
NM_020822.3(KCNT1):c.1812G>A (p.Lys604=)
|
rs754003723
|
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.1851C>T (p.Ala617=)
|
rs1275903338
|
0.00001
|
NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu)
|
rs1392866875
|
0.00001
|
NM_020822.3(KCNT1):c.1887G>A (p.Lys629=)
|
rs531712032
|
0.00001
|
NM_020822.3(KCNT1):c.1905C>T (p.Phe635=)
|
rs1455339615
|
0.00001
|
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp)
|
rs1564314603
|
0.00001
|
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser)
|
rs753543470
|
0.00001
|
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg)
|
rs1022928641
|
0.00001
|
NM_020822.3(KCNT1):c.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.1970C>T (p.Pro657Leu)
|
rs566157365
|
0.00001
|
NM_020822.3(KCNT1):c.1971G>A (p.Pro657=)
|
rs773072248
|
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.1988A>G (p.His663Arg)
|
rs1285595185
|
0.00001
|
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=)
|
rs558095270
|
0.00001
|
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=)
|
rs368777569
|
0.00001
|
NM_020822.3(KCNT1):c.2005A>G (p.Met669Val)
|
rs576552962
|
0.00001
|
NM_020822.3(KCNT1):c.2008+11A>G
|
rs762508818
|
0.00001
|
NM_020822.3(KCNT1):c.2009-9C>G
|
rs1832837736
|
0.00001
|
NM_020822.3(KCNT1):c.2012C>T (p.Thr671Ile)
|
rs1832838063
|
0.00001
|
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val)
|
rs753401695
|
0.00001
|
NM_020822.3(KCNT1):c.2028G>T (p.Leu676=)
|
rs1010117716
|
0.00001
|
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His)
|
rs1411700632
|
0.00001
|
NM_020822.3(KCNT1):c.2049T>C (p.Pro683=)
|
rs1234688449
|
0.00001
|
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)
|
rs1156662870
|
0.00001
|
NM_020822.3(KCNT1):c.2061C>T (p.Gly687=)
|
rs748229745
|
0.00001
|
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
|
rs570983410
|
0.00001
|
NM_020822.3(KCNT1):c.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.2103C>T (p.Asn701=)
|
rs375289689
|
0.00001
|
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)
|
rs755348603
|
0.00001
|
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=)
|
rs755266973
|
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.2196G>A (p.Ser732=)
|
rs557680361
|
0.00001
|
NM_020822.3(KCNT1):c.220C>A (p.Leu74Met)
|
rs943048769
|
0.00001
|
NM_020822.3(KCNT1):c.2216C>T (p.Ser739Leu)
|
rs1163455129
|
0.00001
|
NM_020822.3(KCNT1):c.222G>T (p.Leu74=)
|
rs573574312
|
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.2244-10C>T
|
rs758069398
|
0.00001
|
NM_020822.3(KCNT1):c.2244-17C>T
|
rs1024730518
|
0.00001
|
NM_020822.3(KCNT1):c.2244-5C>T
|
rs746682785
|
0.00001
|
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp)
|
rs1333549995
|
0.00001
|
NM_020822.3(KCNT1):c.2265C>T (p.Pro755=)
|
rs1263083880
|
0.00001
|
NM_020822.3(KCNT1):c.2295C>T (p.Thr765=)
|
rs765278495
|
0.00001
|
NM_020822.3(KCNT1):c.22C>G (p.Arg8Gly)
|
rs747457929
|
0.00001
|
NM_020822.3(KCNT1):c.2339G>A (p.Arg780Gln)
|
rs780759196
|
0.00001
|
NM_020822.3(KCNT1):c.2349+4A>G
|
rs745399878
|
0.00001
|
NM_020822.3(KCNT1):c.2350-3C>T
|
rs776607977
|
0.00001
|
NM_020822.3(KCNT1):c.2350-5C>T
|
rs965133345
|
0.00001
|
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr)
|
rs1466772062
|
0.00001
|
NM_020822.3(KCNT1):c.2409C>T (p.Ile803=)
|
rs557969167
|
0.00001
|
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=)
|
rs559452456
|
0.00001
|
NM_020822.3(KCNT1):c.2421A>G (p.Ala807=)
|
rs765974520
|
0.00001
|
NM_020822.3(KCNT1):c.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.2522+13G>A
|
rs41310951
|
0.00001
|
NM_020822.3(KCNT1):c.2522+14G>A
|
rs947043112
|
0.00001
|
NM_020822.3(KCNT1):c.2523-13G>A
|
rs770824523
|
0.00001
|
NM_020822.3(KCNT1):c.2538C>T (p.Phe846=)
|
rs1251104570
|
0.00001
|
NM_020822.3(KCNT1):c.254+15C>G
|
rs1341686028
|
0.00001
|
NM_020822.3(KCNT1):c.255-12C>G
|
rs778749299
|
0.00001
|
NM_020822.3(KCNT1):c.255-4T>A
|
rs1564343924
|
0.00001
|
NM_020822.3(KCNT1):c.2559C>T (p.Phe853=)
|
rs1166992644
|
0.00001
|
NM_020822.3(KCNT1):c.2568C>T (p.Val856=)
|
rs1554777911
|
0.00001
|
NM_020822.3(KCNT1):c.2589G>A (p.Val863=)
|
rs558135119
|
0.00001
|
NM_020822.3(KCNT1):c.2594+14G>A
|
rs750707802
|
0.00001
|
NM_020822.3(KCNT1):c.2594+6G>A
|
rs973179248
|
0.00001
|
NM_020822.3(KCNT1):c.2595-15C>T
|
rs1190489711
|
0.00001
|
NM_020822.3(KCNT1):c.261G>A (p.Gln87=)
|
rs777687658
|
0.00001
|
NM_020822.3(KCNT1):c.2640G>C (p.Leu880=)
|
rs773647691
|
0.00001
|
NM_020822.3(KCNT1):c.2671G>A (p.Ala891Thr)
|
rs752835491
|
0.00001
|
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=)
|
rs369904278
|
0.00001
|
NM_020822.3(KCNT1):c.2713G>A (p.Val905Met)
|
rs761134824
|
0.00001
|
NM_020822.3(KCNT1):c.2715G>A (p.Val905=)
|
rs771377696
|
0.00001
|
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp)
|
rs1249219901
|
0.00001
|
NM_020822.3(KCNT1):c.2729+15C>T
|
rs200624821
|
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.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys)
|
rs150395210
|
0.00001
|
NM_020822.3(KCNT1):c.2799C>T (p.Arg933=)
|
rs551148089
|
0.00001
|
NM_020822.3(KCNT1):c.2814C>T (p.Tyr938=)
|
rs767742382
|
0.00001
|
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter)
|
rs1276883403
|
0.00001
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00001
|
NM_020822.3(KCNT1):c.2865C>T (p.Asn955=)
|
rs142596339
|
0.00001
|
NM_020822.3(KCNT1):c.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.2904C>T (p.Arg968=)
|
rs986294962
|
0.00001
|
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile)
|
rs1216283172
|
0.00001
|
NM_020822.3(KCNT1):c.2943+14C>T
|
rs562923809
|
0.00001
|
NM_020822.3(KCNT1):c.2944-14C>G
|
rs1387209716
|
0.00001
|
NM_020822.3(KCNT1):c.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.2997C>T (p.Asp999=)
|
rs771951768
|
0.00001
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00001
|
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=)
|
rs1209287528
|
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.300G>A (p.Arg100=)
|
rs762249620
|
0.00001
|
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=)
|
rs751965012
|
0.00001
|
NM_020822.3(KCNT1):c.3027+19G>A
|
rs778490327
|
0.00001
|
NM_020822.3(KCNT1):c.3027+1G>A
|
rs756311140
|
0.00001
|
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=)
|
rs371694148
|
0.00001
|
NM_020822.3(KCNT1):c.3028-16G>A
|
rs1236949709
|
0.00001
|
NM_020822.3(KCNT1):c.3046G>A (p.Asp1016Asn)
|
rs779908455
|
0.00001
|
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=)
|
rs748942066
|
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.3096C>T (p.Ser1032=)
|
rs1360446142
|
0.00001
|
NM_020822.3(KCNT1):c.3099C>T (p.Ser1033=)
|
rs377554985
|
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.3105G>A (p.Glu1035=)
|
rs1833915179
|
0.00001
|
NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=)
|
rs370878235
|
0.00001
|
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln)
|
rs763578184
|
0.00001
|
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)
|
rs765432746
|
0.00001
|
NM_020822.3(KCNT1):c.3177+16G>A
|
rs749539780
|
0.00001
|
NM_020822.3(KCNT1):c.3177+9C>T
|
rs781750496
|
0.00001
|
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=)
|
rs747248633
|
0.00001
|
NM_020822.3(KCNT1):c.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.3231G>A (p.Gly1077=)
|
rs375957383
|
0.00001
|
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro)
|
rs1312042895
|
0.00001
|
NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=)
|
rs754919919
|
0.00001
|
NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp)
|
rs1206215512
|
0.00001
|
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val)
|
rs996610690
|
0.00001
|
NM_020822.3(KCNT1):c.3319C>T (p.Arg1107Cys)
|
rs750627411
|
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.3360G>A (p.Ala1120=)
|
rs768977873
|
0.00001
|
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val)
|
rs1381344367
|
0.00001
|
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly)
|
rs1332070255
|
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.3435G>A (p.Glu1145=)
|
rs1373486252
|
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.3483G>T (p.Gly1161=)
|
rs371640443
|
0.00001
|
NM_020822.3(KCNT1):c.3502+13G>A
|
rs769937688
|
0.00001
|
NM_020822.3(KCNT1):c.3502+2dup
|
rs1336283260
|
0.00001
|
NM_020822.3(KCNT1):c.3503-15C>T
|
rs373596158
|
0.00001
|
NM_020822.3(KCNT1):c.3503-16G>C
|
rs1343359299
|
0.00001
|
NM_020822.3(KCNT1):c.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.3554C>T (p.Pro1185Leu)
|
rs544495873
|
0.00001
|
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=)
|
rs773695396
|
0.00001
|
NM_020822.3(KCNT1):c.3564G>A (p.Thr1188=)
|
rs530040739
|
0.00001
|
NM_020822.3(KCNT1):c.3571G>A (p.Glu1191Lys)
|
rs1292390745
|
0.00001
|
NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=)
|
rs1375394882
|
0.00001
|
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile)
|
rs1171803758
|
0.00001
|
NM_020822.3(KCNT1):c.3587+14G>A
|
rs765545901
|
0.00001
|
NM_020822.3(KCNT1):c.3588-3C>T
|
rs1222157071
|
0.00001
|
NM_020822.3(KCNT1):c.3588-5C>T
|
rs765277880
|
0.00001
|
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr)
|
rs759561558
|
0.00001
|
NM_020822.3(KCNT1):c.3618C>T (p.His1206=)
|
rs577378740
|
0.00001
|
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met)
|
rs766339368
|
0.00001
|
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys)
|
rs752729337
|
0.00001
|
NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg)
|
rs756986311
|
0.00001
|
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln)
|
rs868847760
|
0.00001
|
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=)
|
rs755694160
|
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.3693C>T (p.Asp1231=)
|
rs758617654
|
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.41G>C (p.Cys14Ser)
|
rs750374521
|
0.00001
|
NM_020822.3(KCNT1):c.425G>T (p.Gly142Val)
|
rs1831131534
|
0.00001
|
NM_020822.3(KCNT1):c.429C>T (p.Ile143=)
|
rs767429133
|
0.00001
|
NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg)
|
rs1157678641
|
0.00001
|
NM_020822.3(KCNT1):c.434+13C>T
|
rs748845591
|
0.00001
|
NM_020822.3(KCNT1):c.434+19C>T
|
rs772750955
|
0.00001
|
NM_020822.3(KCNT1):c.434+20G>A
|
rs773820998
|
0.00001
|
NM_020822.3(KCNT1):c.435-6C>T
|
rs370235990
|
0.00001
|
NM_020822.3(KCNT1):c.462C>T (p.Ser154=)
|
rs1298529710
|
0.00001
|
NM_020822.3(KCNT1):c.473C>T (p.Ser158Leu)
|
rs751075368
|
0.00001
|
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val)
|
rs755980218
|
0.00001
|
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys)
|
rs770108075
|
0.00001
|
NM_020822.3(KCNT1):c.494C>T (p.Ala165Val)
|
rs1359744304
|
0.00001
|
NM_020822.3(KCNT1):c.4C>G (p.Pro2Ala)
|
rs748898708
|
0.00001
|
NM_020822.3(KCNT1):c.502C>T (p.Leu168=)
|
rs1175336277
|
0.00001
|
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val)
|
rs377687237
|
0.00001
|
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys)
|
rs1238224961
|
0.00001
|
NM_020822.3(KCNT1):c.546C>T (p.Ile182=)
|
rs778118549
|
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.55G>A (p.Gly19Ser)
|
rs778657830
|
0.00001
|
NM_020822.3(KCNT1):c.566T>C (p.Leu189Pro)
|
rs749194581
|
0.00001
|
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
|
rs372998864
|
0.00001
|
NM_020822.3(KCNT1):c.600+5G>A
|
rs770367654
|
0.00001
|
NM_020822.3(KCNT1):c.601-17C>A
|
rs1242080755
|
0.00001
|
NM_020822.3(KCNT1):c.601-4C>G
|
rs752516170
|
0.00001
|
NM_020822.3(KCNT1):c.636C>T (p.Phe212=)
|
rs769137731
|
0.00001
|
NM_020822.3(KCNT1):c.642G>A (p.Leu214=)
|
rs749747344
|
0.00001
|
NM_020822.3(KCNT1):c.645G>A (p.Glu215=)
|
rs1233969286
|
0.00001
|
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys)
|
rs551930493
|
0.00001
|
NM_020822.3(KCNT1):c.675+10C>T
|
rs1045068086
|
0.00001
|
NM_020822.3(KCNT1):c.687G>A (p.Pro229=)
|
rs748796809
|
0.00001
|
NM_020822.3(KCNT1):c.730C>T (p.Leu244=)
|
rs376096546
|
0.00001
|
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)
|
rs775807509
|
0.00001
|
NM_020822.3(KCNT1):c.741C>T (p.His247=)
|
rs1218041775
|
0.00001
|
NM_020822.3(KCNT1):c.754A>C (p.Met252Leu)
|
rs755782470
|
0.00001
|
NM_020822.3(KCNT1):c.759+11G>A
|
rs1376011545
|
0.00001
|
NM_020822.3(KCNT1):c.759+6C>T
|
rs1057522462
|
0.00001
|
NM_020822.3(KCNT1):c.759+8G>A
|
rs370804021
|
0.00001
|
NM_020822.3(KCNT1):c.765C>T (p.Asp255=)
|
rs1167927802
|
0.00001
|
NM_020822.3(KCNT1):c.777C>T (p.Ala259=)
|
rs759317415
|
0.00001
|
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp)
|
rs375711140
|
0.00001
|
NM_020822.3(KCNT1):c.804C>T (p.Phe268=)
|
rs138371302
|
0.00001
|
NM_020822.3(KCNT1):c.81C>T (p.Phe27=)
|
rs761869915
|
0.00001
|
NM_020822.3(KCNT1):c.835C>T (p.Leu279=)
|
rs1187706487
|
0.00001
|
NM_020822.3(KCNT1):c.854+19T>G
|
rs762382117
|
0.00001
|
NM_020822.3(KCNT1):c.855-12C>T
|
rs1042693872
|
0.00001
|
NM_020822.3(KCNT1):c.861C>T (p.Cys287=)
|
rs750884338
|
0.00001
|
NM_020822.3(KCNT1):c.882G>A (p.Arg294=)
|
rs755272136
|
0.00001
|
NM_020822.3(KCNT1):c.903C>T (p.Leu301=)
|
rs1588330751
|
0.00001
|
NM_020822.3(KCNT1):c.90C>T (p.Asp30=)
|
rs1385683784
|
0.00001
|
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.(?_138606413)_(138606576_?)del
|
|
|
NC_000009.11:g.(?_138641924)_(138649247_?)del
|
|
|
NC_000009.11:g.(?_138651496)_(138651725_?)dup
|
|
|
NC_000009.12:g.(?_135769927)_(135792181_?)dup
|
|
|
NC_000009.12:g.(?_135775290)_(135788182_?)del
|
|
|
NC_000009.12:g.(?_135786177)_(135792181_?)del
|
|
|
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
|
|
|
NM_020822.3(KCNT1):c.1009G>A (p.Val337Met)
|
|
|
NM_020822.3(KCNT1):c.1011G>A (p.Val337=)
|
rs1831789283
|
|
NM_020822.3(KCNT1):c.1017C>T (p.Leu339=)
|
|
|
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met)
|
rs558837964
|
|
NM_020822.3(KCNT1):c.1020G>A (p.Val340=)
|
rs749129414
|
|
NM_020822.3(KCNT1):c.1029A>G (p.Pro343=)
|
|
|
NM_020822.3(KCNT1):c.1035+12G>A
|
|
|
NM_020822.3(KCNT1):c.1035+1G>A
|
rs778538243
|
|
NM_020822.3(KCNT1):c.1035+20G>A
|
|
|
NM_020822.3(KCNT1):c.1035+22_1035+37dup
|
|
|
NM_020822.3(KCNT1):c.1036-3C>T
|
|
|
NM_020822.3(KCNT1):c.1036-8del
|
rs766451840
|
|
NM_020822.3(KCNT1):c.1036-9C>T
|
|
|
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)
|
rs767434859
|
|
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu)
|
rs767434859
|
|
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.1066C>T (p.Arg356Trp)
|
rs752514808
|
|
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.1083C>T (p.Gly361=)
|
|
|
NM_020822.3(KCNT1):c.1089C>T (p.Tyr363=)
|
rs1832164748
|
|
NM_020822.3(KCNT1):c.108C>T (p.Pro36=)
|
|
|
NM_020822.3(KCNT1):c.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+16C>A
|
|
|
NM_020822.3(KCNT1):c.110+3dup
|
|
|
NM_020822.3(KCNT1):c.110+7T>A
|
|
|
NM_020822.3(KCNT1):c.110+9T>G
|
|
|
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.111-11dup
|
|
|
NM_020822.3(KCNT1):c.111-12G>C
|
rs768967168
|
|
NM_020822.3(KCNT1):c.111-15G>A
|
|
|
NM_020822.3(KCNT1):c.111-18G>C
|
|
|
NM_020822.3(KCNT1):c.111-4G>A
|
|
|
NM_020822.3(KCNT1):c.111-6C>T
|
|
|
NM_020822.3(KCNT1):c.111-8G>C
|
rs779128853
|
|
NM_020822.3(KCNT1):c.111-8G>T
|
rs779128853
|
|
NM_020822.3(KCNT1):c.1115A>G (p.Lys372Arg)
|
rs2131473824
|
|
NM_020822.3(KCNT1):c.1128G>A (p.Leu376=)
|
|
|
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.1136G>A (p.Ser379Asn)
|
rs1481122214
|
|
NM_020822.3(KCNT1):c.113G>T (p.Arg38Leu)
|
|
|
NM_020822.3(KCNT1):c.1150G>T (p.Asp384Tyr)
|
|
|
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=)
|
rs756900818
|
|
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.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.1194G>A (p.Arg398=)
|
|
|
NM_020822.3(KCNT1):c.1194G>T (p.Arg398=)
|
rs781506115
|
|
NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg)
|
rs747733979
|
|
NM_020822.3(KCNT1):c.1200+12_1200+13delinsGC
|
|
|
NM_020822.3(KCNT1):c.1200+5G>A
|
|
|
NM_020822.3(KCNT1):c.1200+8C>G
|
|
|
NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)
|
|
|
NM_020822.3(KCNT1):c.1201-17C>G
|
|
|
NM_020822.3(KCNT1):c.1201-4G>A
|
rs2131477231
|
|
NM_020822.3(KCNT1):c.1208A>G (p.Tyr403Cys)
|
rs2131477259
|
|
NM_020822.3(KCNT1):c.1215C>A (p.Val405=)
|
|
|
NM_020822.3(KCNT1):c.1224C>A (p.Cys408Ter)
|
|
|
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
|
rs1588344733
|
|
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.123G>A (p.Ala41=)
|
rs1352859989
|
|
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.1251C>G (p.Arg417=)
|
|
|
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser)
|
rs1440098446
|
|
NM_020822.3(KCNT1):c.1260_1269dup (p.Leu424fs)
|
|
|
NM_020822.3(KCNT1):c.126G>A (p.Gly42=)
|
rs1278186698
|
|
NM_020822.3(KCNT1):c.126G>T (p.Gly42=)
|
rs1278186698
|
|
NM_020822.3(KCNT1):c.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.1283G>A (p.Arg428Gln)
|
|
|
NM_020822.3(KCNT1):c.1284G>A (p.Arg428=)
|
rs943112493
|
|
NM_020822.3(KCNT1):c.1287C>A (p.Val429=)
|
|
|
NM_020822.3(KCNT1):c.129C>T (p.Asp43=)
|
|
|
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
|
|
|
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr)
|
rs1832220041
|
|
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile)
|
rs1057518066
|
|
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe)
|
rs1057518066
|
|
NM_020822.3(KCNT1):c.1311C>G (p.Leu437=)
|
rs770741523
|
|
NM_020822.3(KCNT1):c.1317C>T (p.Asp439=)
|
rs2131477940
|
|
NM_020822.3(KCNT1):c.1323C>A (p.Asp441Glu)
|
|
|
NM_020822.3(KCNT1):c.1326C>T (p.Leu442=)
|
rs200910140
|
|
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu)
|
rs1554773537
|
|
NM_020822.3(KCNT1):c.1330C>T (p.Arg444Ter)
|
|
|
NM_020822.3(KCNT1):c.1335C>T (p.Ala445=)
|
rs751944320
|
|
NM_020822.3(KCNT1):c.1337+12T>A
|
|
|
NM_020822.3(KCNT1):c.1338-11G>A
|
|
|
NM_020822.3(KCNT1):c.1338-12G>C
|
|
|
NM_020822.3(KCNT1):c.1338-12G>T
|
rs1015003209
|
|
NM_020822.3(KCNT1):c.1338-16C>A
|
|
|
NM_020822.3(KCNT1):c.1338-2A>C
|
|
|
NM_020822.3(KCNT1):c.1342G>C (p.Asp448His)
|
|
|
NM_020822.3(KCNT1):c.1347T>A (p.Asn449Lys)
|
|
|
NM_020822.3(KCNT1):c.1353G>A (p.Glu451=)
|
rs1832498978
|
|
NM_020822.3(KCNT1):c.135G>A (p.Ala45=)
|
rs769898346
|
|
NM_020822.3(KCNT1):c.135G>C (p.Ala45=)
|
rs769898346
|
|
NM_020822.3(KCNT1):c.135G>T (p.Ala45=)
|
|
|
NM_020822.3(KCNT1):c.1365C>A (p.Ile455=)
|
|
|
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)
|
rs869312682
|
|
NM_020822.3(KCNT1):c.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.139C>T (p.Leu47=)
|
rs2131329270
|
|
NM_020822.3(KCNT1):c.1401+17C>T
|
|
|
NM_020822.3(KCNT1):c.1401+6_1401+9del
|
|
|
NM_020822.3(KCNT1):c.1401+7G>A
|
rs2131496908
|
|
NM_020822.3(KCNT1):c.1401A>G (p.Ala467=)
|
|
|
NM_020822.3(KCNT1):c.1402-13C>T
|
|
|
NM_020822.3(KCNT1):c.1402-6C>G
|
|
|
NM_020822.3(KCNT1):c.1402-7C>G
|
|
|
NM_020822.3(KCNT1):c.1407C>T (p.His469=)
|
rs537722828
|
|
NM_020822.3(KCNT1):c.1409A>G (p.Gln470Arg)
|
rs773888049
|
|
NM_020822.3(KCNT1):c.1416C>T (p.Ile472=)
|
|
|
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)
|
rs866242631
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr)
|
rs1564367605
|
|
NM_020822.3(KCNT1):c.1432G>A (p.Val478Met)
|
|
|
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=)
|
rs2131497788
|
|
NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)
|
|
|
NM_020822.3(KCNT1):c.1455C>T (p.Cys485=)
|
|
|
NM_020822.3(KCNT1):c.1458C>A (p.Pro486=)
|
|
|
NM_020822.3(KCNT1):c.1461C>T (p.Leu487=)
|
rs763089040
|
|
NM_020822.3(KCNT1):c.1473C>A (p.Ile491=)
|
|
|
NM_020822.3(KCNT1):c.1473C>T (p.Ile491=)
|
rs1832518596
|
|
NM_020822.3(KCNT1):c.147C>A (p.Thr49=)
|
rs751274694
|
|
NM_020822.3(KCNT1):c.1488C>T (p.Asn496=)
|
|
|
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg)
|
rs1245114972
|
|
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
|
|
|
NM_020822.3(KCNT1):c.150C>A (p.Ala50=)
|
rs761304952
|
|
NM_020822.3(KCNT1):c.1510+10G>C
|
rs921050767
|
|
NM_020822.3(KCNT1):c.1510+14A>G
|
|
|
NM_020822.3(KCNT1):c.1510+15C>A
|
rs1416512239
|
|
NM_020822.3(KCNT1):c.1510+17C>T
|
|
|
NM_020822.3(KCNT1):c.1510+31_1510+70del
|
rs780670028
|
|
NM_020822.3(KCNT1):c.1510+3G>A
|
rs1832520059
|
|
NM_020822.3(KCNT1):c.1510+5G>A
|
|
|
NM_020822.3(KCNT1):c.1510+8T>C
|
|
|
NM_020822.3(KCNT1):c.1510+8T>G
|
|
|
NM_020822.3(KCNT1):c.1511-10C>T
|
|
|
NM_020822.3(KCNT1):c.1511-11A>T
|
rs2131504578
|
|
NM_020822.3(KCNT1):c.1511-12C>A
|
rs549024643
|
|
NM_020822.3(KCNT1):c.1511-12C>G
|
rs549024643
|
|
NM_020822.3(KCNT1):c.1511-12C>T
|
|
|
NM_020822.3(KCNT1):c.1511-19C>T
|
rs2131504498
|
|
NM_020822.3(KCNT1):c.1512C>T (p.Asp504=)
|
|
|
NM_020822.3(KCNT1):c.1518G>A (p.Val506=)
|
|
|
NM_020822.3(KCNT1):c.151G>A (p.Gly51Ser)
|
|
|
NM_020822.3(KCNT1):c.1525GAG[2] (p.Glu511del)
|
|
|
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala)
|
rs1554763393
|
|
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg)
|
rs1832635534
|
|
NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)
|
|
|
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)
|
rs886041691
|
|
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.1596G>A (p.Leu532=)
|
|
|
NM_020822.3(KCNT1):c.15C>G (p.Asp5Glu)
|
|
|
NM_020822.3(KCNT1):c.1602G>A (p.Val534=)
|
rs2131505379
|
|
NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)
|
|
|
NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)
|
|
|
NM_020822.3(KCNT1):c.1611C>G (p.Ser537=)
|
rs2131505461
|
|
NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)
|
|
|
NM_020822.3(KCNT1):c.1619+13T>A
|
rs2131505684
|
|
NM_020822.3(KCNT1):c.1619+13_1619+19del
|
|
|
NM_020822.3(KCNT1):c.1619+16C>T
|
|
|
NM_020822.3(KCNT1):c.1619+17C>A
|
rs1384470539
|
|
NM_020822.3(KCNT1):c.1619+17C>T
|
|
|
NM_020822.3(KCNT1):c.1619+18C>G
|
|
|
NM_020822.3(KCNT1):c.1619+19G>A
|
rs374386910
|
|
NM_020822.3(KCNT1):c.1619+20_1619+27del
|
rs1064795535
|
|
NM_020822.3(KCNT1):c.1619+5G>A
|
|
|
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3]
|
rs573524284
|
|
NM_020822.3(KCNT1):c.1619+6T>A
|
rs1328836350
|
|
NM_020822.3(KCNT1):c.1620-10_1620-5dup
|
rs754045989
|
|
NM_020822.3(KCNT1):c.1620-12C>T
|
|
|
NM_020822.3(KCNT1):c.1620-14_1620-4dup
|
|
|
NM_020822.3(KCNT1):c.1620-15C>G
|
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5del
|
rs761464076
|
|
NM_020822.3(KCNT1):c.1620-3C>T
|
|
|
NM_020822.3(KCNT1):c.1620-9G>C
|
|
|
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.1653C>T (p.Arg551=)
|
rs1832666302
|
|
NM_020822.3(KCNT1):c.1654A>G (p.Met552Val)
|
rs2131507644
|
|
NM_020822.3(KCNT1):c.165C>T (p.Ser55=)
|
|
|
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.1683G>A (p.Val561=)
|
rs1253303573
|
|
NM_020822.3(KCNT1):c.1684T>C (p.Tyr562His)
|
|
|
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys)
|
rs1832668143
|
|
NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=)
|
rs760141025
|
|
NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr)
|
rs1190253737
|
|
NM_020822.3(KCNT1):c.1693C>T (p.Arg565Cys)
|
|
|
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=)
|
rs553208215
|
|
NM_020822.3(KCNT1):c.1695C>T (p.Arg565=)
|
|
|
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.1704C>T (p.Asp568=)
|
|
|
NM_020822.3(KCNT1):c.1713C>T (p.Phe571=)
|
|
|
NM_020822.3(KCNT1):c.1719C>T (p.Arg573=)
|
|
|
NM_020822.3(KCNT1):c.1731C>A (p.Gly577=)
|
|
|
NM_020822.3(KCNT1):c.1737C>T (p.Ser579=)
|
rs775919081
|
|
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly)
|
rs1588255313
|
|
NM_020822.3(KCNT1):c.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.1749G>C (p.Ala583=)
|
rs17038714
|
|
NM_020822.3(KCNT1):c.174C>T (p.Asp58=)
|
rs2131329369
|
|
NM_020822.3(KCNT1):c.1752C>T (p.Ala584=)
|
|
|
NM_020822.3(KCNT1):c.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.1764C>T (p.His588=)
|
|
|
NM_020822.3(KCNT1):c.1769+11del
|
rs2131508480
|
|
NM_020822.3(KCNT1):c.1769+15_1769+16inv
|
|
|
NM_020822.3(KCNT1):c.1769+19C>T
|
|
|
NM_020822.3(KCNT1):c.1769+20A>G
|
rs1057524400
|
|
NM_020822.3(KCNT1):c.1769+6G>A
|
rs927454585
|
|
NM_020822.3(KCNT1):c.1769+8C>A
|
rs371287985
|
|
NM_020822.3(KCNT1):c.1770-10C>G
|
|
|
NM_020822.3(KCNT1):c.1770-20T>C
|
rs1239661382
|
|
NM_020822.3(KCNT1):c.1770-3C>T
|
|
|
NM_020822.3(KCNT1):c.1770-7T>C
|
|
|
NM_020822.3(KCNT1):c.1770-7_1785dup
|
|
|
NM_020822.3(KCNT1):c.1777G>C (p.Val593Leu)
|
|
|
NM_020822.3(KCNT1):c.1779G>A (p.Val593=)
|
rs748744989
|
|
NM_020822.3(KCNT1):c.1779G>T (p.Val593=)
|
rs748744989
|
|
NM_020822.3(KCNT1):c.1788C>G (p.Ile596Met)
|
|
|
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
|
|
|
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.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.1815C>T (p.Ser605=)
|
rs113201678
|
|
NM_020822.3(KCNT1):c.1822C>T (p.Leu608=)
|
|
|
NM_020822.3(KCNT1):c.1824G>A (p.Leu608=)
|
rs764141661
|
|
NM_020822.3(KCNT1):c.1828C>A (p.Pro610Thr)
|
|
|
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=)
|
rs780892917
|
|
NM_020822.3(KCNT1):c.1830G>C (p.Pro610=)
|
rs780892917
|
|
NM_020822.3(KCNT1):c.1831G>C (p.Gly611Arg)
|
|
|
NM_020822.3(KCNT1):c.1833del (p.Arg613fs)
|
rs1832711486
|
|
NM_020822.3(KCNT1):c.1839G>T (p.Arg613=)
|
|
|
NM_020822.3(KCNT1):c.183G>A (p.Val61=)
|
|
|
NM_020822.3(KCNT1):c.1852G>C (p.Ala618Pro)
|
|
|
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val)
|
rs1832713510
|
|
NM_020822.3(KCNT1):c.1860C>T (p.Asp620=)
|
|
|
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.1881C>T (p.Ile627=)
|
rs1554775088
|
|
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)
|
rs1057522978
|
|
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.1893G>A (p.Glu631=)
|
rs2131511290
|
|
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.1935G>A (p.Lys645=)
|
|
|
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.1950G>T (p.Gly650=)
|
|
|
NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)
|
|
|
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.1956G>T (p.Gly652=)
|
|
|
NM_020822.3(KCNT1):c.1957_1958insACGGGC (p.Gly652_Leu653insHisGly)
|
|
|
NM_020822.3(KCNT1):c.195_254+851del
|
rs1835645943
|
|
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln)
|
rs770039542
|
|
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.198G>A (p.Pro66=)
|
|
|
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn)
|
rs1832724038
|
|
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=)
|
rs368777569
|
|
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.2001C>T (p.Ala667=)
|
|
|
NM_020822.3(KCNT1):c.2008+15del
|
rs2131512215
|
|
NM_020822.3(KCNT1):c.2008+16C>T
|
|
|
NM_020822.3(KCNT1):c.2008+17G>A
|
|
|
NM_020822.3(KCNT1):c.2008+6C>A
|
|
|
NM_020822.3(KCNT1):c.2009-12G>A
|
|
|
NM_020822.3(KCNT1):c.2009-13G>T
|
rs1391208726
|
|
NM_020822.3(KCNT1):c.2009-2A>G
|
rs1318491844
|
|
NM_020822.3(KCNT1):c.2009-3C>T
|
rs2131520063
|
|
NM_020822.3(KCNT1):c.2009-7C>T
|
rs935840917
|
|
NM_020822.3(KCNT1):c.2011A>G (p.Thr671Ala)
|
rs1364315508
|
|
NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)
|
|
|
NM_020822.3(KCNT1):c.2016G>C (p.Val672=)
|
|
|
NM_020822.3(KCNT1):c.2019C>T (p.Ala673=)
|
|
|
NM_020822.3(KCNT1):c.2025C>T (p.Asp675=)
|
|
|
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)
|
rs1060505000
|
|
NM_020822.3(KCNT1):c.2036C>T (p.Thr679Ile)
|
rs2131520253
|
|
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly)
|
rs1207174167
|
|
NM_020822.3(KCNT1):c.204C>T (p.Tyr68=)
|
rs2131329436
|
|
NM_020822.3(KCNT1):c.2055G>A (p.Gln685=)
|
|
|
NM_020822.3(KCNT1):c.2061C>A (p.Gly687=)
|
rs748229745
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
NM_020822.3(KCNT1):c.2064T>C (p.Gly688=)
|
|
|
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.2087C>T (p.Ala696Val)
|
rs775382017
|
|
NM_020822.3(KCNT1):c.2089C>T (p.Leu697=)
|
rs1218571907
|
|
NM_020822.3(KCNT1):c.2091G>A (p.Leu697=)
|
|
|
NM_020822.3(KCNT1):c.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.2109G>A (p.Ser703=)
|
rs767200583
|
|
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln)
|
rs1407599692
|
|
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=)
|
rs2131521147
|
|
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr)
|
rs892635002
|
|
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
|
|
|
NM_020822.3(KCNT1):c.2130C>T (p.Ile710=)
|
rs1832851605
|
|
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.2146C>T (p.Leu716=)
|
rs752522838
|
|
NM_020822.3(KCNT1):c.2151C>A (p.Ala717=)
|
|
|
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=)
|
rs758589013
|
|
NM_020822.3(KCNT1):c.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.2172C>G (p.Pro724=)
|
rs1354699667
|
|
NM_020822.3(KCNT1):c.2172C>T (p.Pro724=)
|
|
|
NM_020822.3(KCNT1):c.2175C>T (p.Cys725=)
|
rs368450848
|
|
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn)
|
rs752598622
|
|
NM_020822.3(KCNT1):c.2190C>T (p.Asp730=)
|
rs2131521695
|
|
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.220C>T (p.Leu74=)
|
rs943048769
|
|
NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)
|
|
|
NM_020822.3(KCNT1):c.2212C>T (p.Pro738Ser)
|
|
|
NM_020822.3(KCNT1):c.2214G>T (p.Pro738=)
|
|
|
NM_020822.3(KCNT1):c.2220C>T (p.Asp740=)
|
rs148162797
|
|
NM_020822.3(KCNT1):c.2222A>C (p.Asp741Ala)
|
rs756359375
|
|
NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly)
|
rs756359375
|
|
NM_020822.3(KCNT1):c.2229G>A (p.Gly743=)
|
rs1289338720
|
|
NM_020822.3(KCNT1):c.2229G>T (p.Gly743=)
|
rs1289338720
|
|
NM_020822.3(KCNT1):c.2232C>G (p.Leu744=)
|
rs1281401990
|
|
NM_020822.3(KCNT1):c.2238G>A (p.Val746=)
|
|
|
NM_020822.3(KCNT1):c.2239G>A (p.Val747Ile)
|
|
|
NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)
|
|
|
NM_020822.3(KCNT1):c.2243+10G>A
|
|
|
NM_020822.3(KCNT1):c.2243+10G>T
|
|
|
NM_020822.3(KCNT1):c.2243+20C>T
|
rs989956820
|
|
NM_020822.3(KCNT1):c.2243+6T>C
|
|
|
NM_020822.3(KCNT1):c.2244-14G>A
|
|
|
NM_020822.3(KCNT1):c.2244-1G>A
|
|
|
NM_020822.3(KCNT1):c.2244-20G>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.2280C>T (p.Ile760=)
|
rs370521183
|
|
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu)
|
rs1833087099
|
|
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=)
|
rs2131535193
|
|
NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)
|
|
|
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala)
|
rs751320619
|
|
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.2338C>A (p.Arg780=)
|
|
|
NM_020822.3(KCNT1):c.2349+19C>T
|
|
|
NM_020822.3(KCNT1):c.2349+6G>T
|
rs1418169170
|
|
NM_020822.3(KCNT1):c.2349+7C>T
|
rs190849453
|
|
NM_020822.3(KCNT1):c.2349+8del
|
rs748745850
|
|
NM_020822.3(KCNT1):c.2350-13_2350-12insCCTGACTCCAGT
|
|
|
NM_020822.3(KCNT1):c.2350-8G>T
|
|
|
NM_020822.3(KCNT1):c.2370T>C (p.Tyr790=)
|
rs1588380952
|
|
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val)
|
rs1833240649
|
|
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)
|
rs397515406
|
|
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.2391G>A (p.Gly797=)
|
rs2131543508
|
|
NM_020822.3(KCNT1):c.2397G>A (p.Lys799=)
|
|
|
NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)
|
|
|
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.2411T>C (p.Ile804Thr)
|
rs2131543567
|
|
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=)
|
rs142726010
|
|
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.2433C>T (p.Gly811=)
|
|
|
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser)
|
rs1564380461
|
|
NM_020822.3(KCNT1):c.2436T>C (p.Asn812=)
|
|
|
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.2451C>T (p.Phe817=)
|
rs942926305
|
|
NM_020822.3(KCNT1):c.2457G>A (p.Val819=)
|
|
|
NM_020822.3(KCNT1):c.2464C>A (p.Arg822=)
|
|
|
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp)
|
rs746067661
|
|
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln)
|
rs1833247008
|
|
NM_020822.3(KCNT1):c.2466G>A (p.Arg822=)
|
|
|
NM_020822.3(KCNT1):c.2469C>A (p.Ala823=)
|
|
|
NM_020822.3(KCNT1):c.2475C>T (p.Tyr825=)
|
rs2131543938
|
|
NM_020822.3(KCNT1):c.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.2493G>A (p.Leu831=)
|
|
|
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met)
|
rs753584318
|
|
NM_020822.3(KCNT1):c.2505G>A (p.Val835=)
|
|
|
NM_020822.3(KCNT1):c.2509C>T (p.Leu837=)
|
rs2131544108
|
|
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+12G>A
|
|
|
NM_020822.3(KCNT1):c.2522+15G>A
|
rs1313134564
|
|
NM_020822.3(KCNT1):c.2522+15dup
|
|
|
NM_020822.3(KCNT1):c.2522+28_2522+36del
|
rs759743096
|
|
NM_020822.3(KCNT1):c.2522+28_2522+36dup
|
rs759743096
|
|
NM_020822.3(KCNT1):c.2522+28_2522+82del
|
|
|
NM_020822.3(KCNT1):c.2522+3G>A
|
rs1588381370
|
|
NM_020822.3(KCNT1):c.2522+3G>T
|
|
|
NM_020822.3(KCNT1):c.2523-12C>T
|
rs1007419018
|
|
NM_020822.3(KCNT1):c.2523-14C>T
|
|
|
NM_020822.3(KCNT1):c.2523-5del
|
|
|
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+10G>A
|
|
|
NM_020822.3(KCNT1):c.254+11_254+12insTAGGGACCGGGC
|
|
|
NM_020822.3(KCNT1):c.254+12_254+13insTG
|
rs1443453581
|
|
NM_020822.3(KCNT1):c.254+15C>T
|
|
|
NM_020822.3(KCNT1):c.254+17G>A
|
rs1425749928
|
|
NM_020822.3(KCNT1):c.254+18G>A
|
|
|
NM_020822.3(KCNT1):c.254+18_254+19dup
|
rs141291153
|
|
NM_020822.3(KCNT1):c.254+3A>G
|
|
|
NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)
|
|
|
NM_020822.3(KCNT1):c.255-11T>C
|
|
|
NM_020822.3(KCNT1):c.255-14C>T
|
|
|
NM_020822.3(KCNT1):c.255-16CT[2]
|
rs760287830
|
|
NM_020822.3(KCNT1):c.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.2592C>T (p.Asp864=)
|
|
|
NM_020822.3(KCNT1):c.2594+10G>A
|
rs2131548582
|
|
NM_020822.3(KCNT1):c.2594+13C>T
|
|
|
NM_020822.3(KCNT1):c.2594+7C>A
|
rs545094921
|
|
NM_020822.3(KCNT1):c.2594+8G>A
|
|
|
NM_020822.3(KCNT1):c.2595-11C>T
|
|
|
NM_020822.3(KCNT1):c.2595-4C>T
|
|
|
NM_020822.3(KCNT1):c.2595-7C>T
|
|
|
NM_020822.3(KCNT1):c.2598G>A (p.Leu866=)
|
rs2131549376
|
|
NM_020822.3(KCNT1):c.2598G>T (p.Leu866=)
|
|
|
NM_020822.3(KCNT1):c.2599G>A (p.Asp867Asn)
|
rs1424894748
|
|
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly)
|
rs757223440
|
|
NM_020822.3(KCNT1):c.2601C>T (p.Asp867=)
|
rs1833360129
|
|
NM_020822.3(KCNT1):c.2610G>A (p.Leu870=)
|
|
|
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.2622C>T (p.Ile874=)
|
|
|
NM_020822.3(KCNT1):c.2628T>C (p.Tyr876=)
|
rs2131549484
|
|
NM_020822.3(KCNT1):c.2631G>A (p.Ala877=)
|
|
|
NM_020822.3(KCNT1):c.2634C>A (p.Asp878Glu)
|
|
|
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=)
|
rs1588384964
|
|
NM_020822.3(KCNT1):c.2639TGG[3] (p.Val883del)
|
rs2131549532
|
|
NM_020822.3(KCNT1):c.2643G>C (p.Val881=)
|
|
|
NM_020822.3(KCNT1):c.2646G>A (p.Val882=)
|
|
|
NM_020822.3(KCNT1):c.2647G>A (p.Val883Met)
|
|
|
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu)
|
rs974652934
|
|
NM_020822.3(KCNT1):c.267G>A (p.Glu89=)
|
rs917179079
|
|
NM_020822.3(KCNT1):c.2680G>T (p.Asp894Tyr)
|
|
|
NM_020822.3(KCNT1):c.2685C>T (p.Tyr895=)
|
|
|
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
|
|
|
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys)
|
rs1060503696
|
|
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg)
|
rs1060503696
|
|
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)
|
rs797044544
|
|
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.2717A>G (p.Gln906Arg)
|
rs1588385233
|
|
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=)
|
rs1588385244
|
|
NM_020822.3(KCNT1):c.2727C>A (p.Phe909Leu)
|
|
|
NM_020822.3(KCNT1):c.2729+10G>A
|
|
|
NM_020822.3(KCNT1):c.2729+20C>T
|
|
|
NM_020822.3(KCNT1):c.2729G>T (p.Arg910Leu)
|
|
|
NM_020822.3(KCNT1):c.2730-15_2730-9dup
|
|
|
NM_020822.3(KCNT1):c.2730-18G>C
|
|
|
NM_020822.3(KCNT1):c.2730-4C>G
|
|
|
NM_020822.3(KCNT1):c.2730-6C>T
|
rs1300286037
|
|
NM_020822.3(KCNT1):c.2733C>G (p.Leu911=)
|
|
|
NM_020822.3(KCNT1):c.2734_2745dup (p.Leu915_Ser916insPheProSerLeu)
|
|
|
NM_020822.3(KCNT1):c.2736C>T (p.Phe912=)
|
rs780650756
|
|
NM_020822.3(KCNT1):c.2739C>T (p.Pro913=)
|
rs140516977
|
|
NM_020822.3(KCNT1):c.2745C>T (p.Leu915=)
|
|
|
NM_020822.3(KCNT1):c.2746A>G (p.Ser916Gly)
|
|
|
NM_020822.3(KCNT1):c.2749A>G (p.Ile917Val)
|
rs2131552837
|
|
NM_020822.3(KCNT1):c.2751C>T (p.Ile917=)
|
|
|
NM_020822.3(KCNT1):c.2757G>C (p.Thr919=)
|
rs775752475
|
|
NM_020822.3(KCNT1):c.2766C>G (p.Thr922=)
|
|
|
NM_020822.3(KCNT1):c.2767C>T (p.His923Tyr)
|
|
|
NM_020822.3(KCNT1):c.2771C>T (p.Pro924Leu)
|
|
|
NM_020822.3(KCNT1):c.2778C>T (p.Asn926=)
|
rs1833435836
|
|
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu)
|
rs1486195544
|
|
NM_020822.3(KCNT1):c.2780T>C (p.Met927Thr)
|
|
|
NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)
|
|
|
NM_020822.3(KCNT1):c.278A>G (p.Asn93Ser)
|
|
|
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile)
|
rs886044717
|
|
NM_020822.3(KCNT1):c.2797C>G (p.Arg933Gly)
|
rs150395210
|
|
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
|
rs1023136319
|
|
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)
|
rs397515403
|
|
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser)
|
rs397515403
|
|
NM_020822.3(KCNT1):c.2801C>T (p.Ala934Val)
|
|
|
NM_020822.3(KCNT1):c.2804A>G (p.Lys935Arg)
|
rs1414528567
|
|
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly)
|
rs1554778379
|
|
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.2824C>T (p.Leu942Phe)
|
|
|
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe)
|
rs1833442719
|
|
NM_020822.3(KCNT1):c.2830A>C (p.Lys944Gln)
|
|
|
NM_020822.3(KCNT1):c.2833C>T (p.Leu945=)
|
rs759566793
|
|
NM_020822.3(KCNT1):c.2835A>T (p.Leu945=)
|
rs1401533323
|
|
NM_020822.3(KCNT1):c.2841+17C>T
|
|
|
NM_020822.3(KCNT1):c.2841+5G>A
|
|
|
NM_020822.3(KCNT1):c.2841+8G>A
|
rs1833445005
|
|
NM_020822.3(KCNT1):c.2842-11C>T
|
rs1051472581
|
|
NM_020822.3(KCNT1):c.2842-11_2842-9del
|
|
|
NM_020822.3(KCNT1):c.2842-16C>T
|
|
|
NM_020822.3(KCNT1):c.2842-18G>T
|
|
|
NM_020822.3(KCNT1):c.2842-25_2842-15del
|
rs2131570559
|
|
NM_020822.3(KCNT1):c.2842-36_2842-12del
|
|
|
NM_020822.3(KCNT1):c.2842-6C>T
|
rs2131570804
|
|
NM_020822.3(KCNT1):c.2843G>C (p.Arg948Thr)
|
rs755704046
|
|
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=)
|
rs779429071
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu)
|
rs886043455
|
|
NM_020822.3(KCNT1):c.2862C>T (p.Ser954=)
|
rs2131570981
|
|
NM_020822.3(KCNT1):c.2866C>T (p.Leu956=)
|
|
|
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser)
|
rs1277322108
|
|
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr)
|
rs1318262895
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
NM_020822.3(KCNT1):c.2887C>G (p.Pro963Ala)
|
rs2131571194
|
|
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu)
|
rs997774104
|
|
NM_020822.3(KCNT1):c.2889G>A (p.Pro963=)
|
rs376839128
|
|
NM_020822.3(KCNT1):c.288C>G (p.Thr96=)
|
|
|
NM_020822.3(KCNT1):c.288C>T (p.Thr96=)
|
rs764504563
|
|
NM_020822.3(KCNT1):c.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.2910C>T (p.Phe970=)
|
|
|
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.2916C>T (p.Ile972=)
|
rs878855056
|
|
NM_020822.3(KCNT1):c.2919C>T (p.Ser973=)
|
|
|
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=)
|
rs1554779778
|
|
NM_020822.3(KCNT1):c.2943+10G>C
|
rs1165451009
|
|
NM_020822.3(KCNT1):c.2943+15G>A
|
rs369299178
|
|
NM_020822.3(KCNT1):c.2943+15G>C
|
|
|
NM_020822.3(KCNT1):c.2943+15G>T
|
|
|
NM_020822.3(KCNT1):c.2943+19G>A
|
|
|
NM_020822.3(KCNT1):c.2943+1G>C
|
rs1833833144
|
|
NM_020822.3(KCNT1):c.2944-10_2944-9insTCTCCCTC
|
rs1833876769
|
|
NM_020822.3(KCNT1):c.2944-13_2944-6dup
|
|
|
NM_020822.3(KCNT1):c.2944-14_2944-13insTCTC
|
|
|
NM_020822.3(KCNT1):c.2944-15_2944-14insTCCT
|
|
|
NM_020822.3(KCNT1):c.2944-19_2944-13del
|
rs1487601601
|
|
NM_020822.3(KCNT1):c.2944-21_2944-6del
|
|
|
NM_020822.3(KCNT1):c.2944-3C>T
|
rs1554779944
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[4]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[6]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[7]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[8]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-52CTCC[9]
|
rs55843930
|
|
NM_020822.3(KCNT1):c.2944-6G>C
|
rs1452612792
|
|
NM_020822.3(KCNT1):c.2944-8C>G
|
|
|
NM_020822.3(KCNT1):c.2946C>T (p.Ser982=)
|
rs2131574304
|
|
NM_020822.3(KCNT1):c.2950G>C (p.Val984Leu)
|
|
|
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn)
|
rs1833883179
|
|
NM_020822.3(KCNT1):c.2958C>T (p.Asp986=)
|
|
|
NM_020822.3(KCNT1):c.2960A>G (p.Tyr987Cys)
|
|
|
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala)
|
rs1833884066
|
|
NM_020822.3(KCNT1):c.2970C>T (p.Thr990=)
|
|
|
NM_020822.3(KCNT1):c.2973C>T (p.Ile991=)
|
rs781212036
|
|
NM_020822.3(KCNT1):c.2976C>T (p.Thr992=)
|
rs1331320043
|
|
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln)
|
rs1833885872
|
|
NM_020822.3(KCNT1):c.298C>A (p.Arg100=)
|
|
|
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp)
|
rs1831067002
|
|
NM_020822.3(KCNT1):c.2992C>T (p.Leu998=)
|
|
|
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=)
|
rs560435329
|
|
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.3027+10C>T
|
|
|
NM_020822.3(KCNT1):c.3027+10_3027+23del
|
|
|
NM_020822.3(KCNT1):c.3027+12_3027+13insC
|
|
|
NM_020822.3(KCNT1):c.3027+13G>C
|
|
|
NM_020822.3(KCNT1):c.3027+18_3027+22del
|
rs778352896
|
|
NM_020822.3(KCNT1):c.3027+8C>G
|
|
|
NM_020822.3(KCNT1):c.3028-10C>G
|
rs2131575320
|
|
NM_020822.3(KCNT1):c.3028-2A>T
|
rs2131575343
|
|
NM_020822.3(KCNT1):c.3028-5T>G
|
rs755073132
|
|
NM_020822.3(KCNT1):c.3028-8C>T
|
rs2131575328
|
|
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.3060C>T (p.Arg1020=)
|
|
|
NM_020822.3(KCNT1):c.3072C>G (p.Arg1024=)
|
|
|
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.30G>C (p.Pro10=)
|
|
|
NM_020822.3(KCNT1):c.30G>T (p.Pro10=)
|
rs139034501
|
|
NM_020822.3(KCNT1):c.3102C>T (p.Ala1034=)
|
rs1176639976
|
|
NM_020822.3(KCNT1):c.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.3129A>G (p.Thr1043=)
|
|
|
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+14C>A
|
|
|
NM_020822.3(KCNT1):c.3156+15_3156+37del
|
rs777726660
|
|
NM_020822.3(KCNT1):c.3156+15_3156+71del
|
rs1564391620
|
|
NM_020822.3(KCNT1):c.3156+19G>A
|
rs1364101045
|
|
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.3156+9G>A
|
|
|
NM_020822.3(KCNT1):c.3157-15C>G
|
|
|
NM_020822.3(KCNT1):c.3157-18C>A
|
rs367695978
|
|
NM_020822.3(KCNT1):c.3157-18C>T
|
|
|
NM_020822.3(KCNT1):c.3157-20T>C
|
rs774520067
|
|
NM_020822.3(KCNT1):c.3157-20T>G
|
|
|
NM_020822.3(KCNT1):c.3157C>T (p.Pro1053Ser)
|
rs1833952592
|
|
NM_020822.3(KCNT1):c.3163G>T (p.Asp1055Tyr)
|
|
|
NM_020822.3(KCNT1):c.3165C>T (p.Asp1055=)
|
|
|
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+12del
|
rs749581375
|
|
NM_020822.3(KCNT1):c.3177+15C>T
|
|
|
NM_020822.3(KCNT1):c.3177+16G>T
|
|
|
NM_020822.3(KCNT1):c.3177+6C>T
|
|
|
NM_020822.3(KCNT1):c.3177+9C>A
|
rs781750496
|
|
NM_020822.3(KCNT1):c.3177_3177+22dup
|
rs1833953810
|
|
NM_020822.3(KCNT1):c.3178-12_3180dup
|
|
|
NM_020822.3(KCNT1):c.3178-14C>T
|
|
|
NM_020822.3(KCNT1):c.3178-19C>T
|
|
|
NM_020822.3(KCNT1):c.3178-1G>A
|
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[2]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[3]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[5]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3178-26GCCCT[6]
|
rs757968008
|
|
NM_020822.3(KCNT1):c.3178-5_3178-1dup
|
rs772240955
|
|
NM_020822.3(KCNT1):c.3178-6_3178-5insT
|
|
|
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.3183G>A (p.Gln1061=)
|
|
|
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.3189G>A (p.Ser1063=)
|
|
|
NM_020822.3(KCNT1):c.3189G>C (p.Ser1063=)
|
rs777914546
|
|
NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=)
|
rs777914546
|
|
NM_020822.3(KCNT1):c.3198G>A (p.Val1066=)
|
|
|
NM_020822.3(KCNT1):c.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>A (p.Arg1073Gln)
|
|
|
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro)
|
rs747837141
|
|
NM_020822.3(KCNT1):c.3219G>A (p.Arg1073=)
|
|
|
NM_020822.3(KCNT1):c.3225G>A (p.Val1075=)
|
|
|
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.3254C>T (p.Thr1085Ile)
|
|
|
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp)
|
rs1834040486
|
|
NM_020822.3(KCNT1):c.3281C>G (p.Thr1094Arg)
|
|
|
NM_020822.3(KCNT1):c.3290G>T (p.Gly1097Val)
|
|
|
NM_020822.3(KCNT1):c.3294C>T (p.Asp1098=)
|
|
|
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=)
|
rs759060691
|
|
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>A (p.Arg1106=)
|
rs542409033
|
|
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
|
rs542409033
|
|
NM_020822.3(KCNT1):c.3318G>A (p.Arg1106=)
|
rs2131582189
|
|
NM_020822.3(KCNT1):c.3318_3320dup (p.Arg1107_Lys1108insArg)
|
|
|
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn)
|
rs1588407944
|
|
NM_020822.3(KCNT1):c.3327C>T (p.Ser1109=)
|
|
|
NM_020822.3(KCNT1):c.3328C>T (p.Leu1110=)
|
|
|
NM_020822.3(KCNT1):c.3333G>A (p.Gln1111=)
|
rs960008558
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_020822.3(KCNT1):c.3339C>A (p.Ala1113=)
|
|
|
NM_020822.3(KCNT1):c.334+10G>C
|
|
|
NM_020822.3(KCNT1):c.334+12G>A
|
|
|
NM_020822.3(KCNT1):c.334+13C>G
|
|
|
NM_020822.3(KCNT1):c.334+14C>G
|
rs2131408140
|
|
NM_020822.3(KCNT1):c.334+16G>A
|
|
|
NM_020822.3(KCNT1):c.334+7G>A
|
rs1057522631
|
|
NM_020822.3(KCNT1):c.334+8G>A
|
|
|
NM_020822.3(KCNT1):c.334+8_334+12del
|
|
|
NM_020822.3(KCNT1):c.3340C>G (p.Arg1114Gly)
|
rs370085077
|
|
NM_020822.3(KCNT1):c.3346C>A (p.Leu1116Met)
|
|
|
NM_020822.3(KCNT1):c.335-14T>C
|
|
|
NM_020822.3(KCNT1):c.335-14T>G
|
|
|
NM_020822.3(KCNT1):c.335-17C>A
|
rs764048972
|
|
NM_020822.3(KCNT1):c.335-17C>T
|
|
|
NM_020822.3(KCNT1):c.335-5C>A
|
rs745658927
|
|
NM_020822.3(KCNT1):c.3352C>T (p.Arg1118Cys)
|
|
|
NM_020822.3(KCNT1):c.3354C>T (p.Arg1118=)
|
|
|
NM_020822.3(KCNT1):c.3356A>C (p.Lys1119Thr)
|
|
|
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
|
|
|
NM_020822.3(KCNT1):c.3369G>A (p.Gln1123=)
|
rs2131582485
|
|
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.3387C>G (p.Ala1129=)
|
rs372410150
|
|
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser)
|
rs138421850
|
|
NM_020822.3(KCNT1):c.3389C>T (p.Ala1130Val)
|
|
|
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.3417C>T (p.Ser1139=)
|
|
|
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met)
|
rs1237797436
|
|
NM_020822.3(KCNT1):c.3418C>T (p.Leu1140=)
|
|
|
NM_020822.3(KCNT1):c.3419T>A (p.Leu1140Gln)
|
rs774987263
|
|
NM_020822.3(KCNT1):c.3420G>A (p.Leu1140=)
|
|
|
NM_020822.3(KCNT1):c.3426G>A (p.Arg1142=)
|
|
|
NM_020822.3(KCNT1):c.3427C>A (p.Arg1143Ser)
|
rs760923308
|
|
NM_020822.3(KCNT1):c.3427C>T (p.Arg1143Cys)
|
|
|
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His)
|
rs1182743416
|
|
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.3461A>G (p.Lys1154Arg)
|
rs779810960
|
|
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr)
|
rs1283268556
|
|
NM_020822.3(KCNT1):c.3464A>G (p.Asn1155Ser)
|
|
|
NM_020822.3(KCNT1):c.3466C>T (p.Arg1156Cys)
|
|
|
NM_020822.3(KCNT1):c.3478C>T (p.Leu1160=)
|
|
|
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.3502+12C>G
|
rs367727105
|
|
NM_020822.3(KCNT1):c.3502+14G>A
|
|
|
NM_020822.3(KCNT1):c.3502+15C>T
|
|
|
NM_020822.3(KCNT1):c.3502+9A>G
|
rs2131583276
|
|
NM_020822.3(KCNT1):c.3503-10T>C
|
|
|
NM_020822.3(KCNT1):c.3503-19C>T
|
|
|
NM_020822.3(KCNT1):c.3503-7T>A
|
rs559088025
|
|
NM_020822.3(KCNT1):c.3513C>T (p.Asn1171=)
|
rs1206106180
|
|
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.3534C>A (p.Ser1178=)
|
rs1588422518
|
|
NM_020822.3(KCNT1):c.3540C>T (p.Val1180=)
|
rs185469582
|
|
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
|
rs1161862851
|
|
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=)
|
rs144068763
|
|
NM_020822.3(KCNT1):c.3558C>A (p.Pro1186=)
|
rs148525032
|
|
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=)
|
rs148525032
|
|
NM_020822.3(KCNT1):c.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.3564G>C (p.Thr1188=)
|
rs530040739
|
|
NM_020822.3(KCNT1):c.3564G>T (p.Thr1188=)
|
|
|
NM_020822.3(KCNT1):c.3567G>A (p.Arg1189=)
|
rs2131604834
|
|
NM_020822.3(KCNT1):c.3570G>A (p.Leu1190=)
|
rs1247173859
|
|
NM_020822.3(KCNT1):c.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.3587+12C>T
|
|
|
NM_020822.3(KCNT1):c.3587+13_3587+44del
|
rs1426064441
|
|
NM_020822.3(KCNT1):c.3588-10C>T
|
|
|
NM_020822.3(KCNT1):c.3588-13_3588-12del
|
rs2131605777
|
|
NM_020822.3(KCNT1):c.3588-14G>A
|
|
|
NM_020822.3(KCNT1):c.3588-9C>T
|
rs2131605802
|
|
NM_020822.3(KCNT1):c.35dup (p.Val13fs)
|
rs1835063072
|
|
NM_020822.3(KCNT1):c.3600C>G (p.Arg1200=)
|
|
|
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=)
|
rs144658404
|
|
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.3603C>T (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.3622G>A (p.Ala1208Thr)
|
rs1564402008
|
|
NM_020822.3(KCNT1):c.3624C>T (p.Ala1208=)
|
rs1372740051
|
|
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.3648C>T (p.Ser1216=)
|
rs1834583279
|
|
NM_020822.3(KCNT1):c.3649A>G (p.Ser1217Gly)
|
rs2131606216
|
|
NM_020822.3(KCNT1):c.364C>T (p.Leu122=)
|
rs2131411142
|
|
NM_020822.3(KCNT1):c.3650G>T (p.Ser1217Ile)
|
|
|
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr)
|
rs758465935
|
|
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.3669G>A (p.Ser1223=)
|
rs556454353
|
|
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.3699A>C (p.Thr1233=)
|
rs750109650
|
|
NM_020822.3(KCNT1):c.3699A>G (p.Thr1233=)
|
|
|
NM_020822.3(KCNT1):c.36C>G (p.Gly12=)
|
rs1442852201
|
|
NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs)
|
rs1834589533
|
|
NM_020822.3(KCNT1):c.372G>A (p.Leu124=)
|
rs1398608504
|
|
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.399C>A (p.Arg133=)
|
rs377259793
|
|
NM_020822.3(KCNT1):c.399C>T (p.Arg133=)
|
rs377259793
|
|
NM_020822.3(KCNT1):c.400G>T (p.Val134Phe)
|
rs766663683
|
|
NM_020822.3(KCNT1):c.402C>G (p.Val134=)
|
|
|
NM_020822.3(KCNT1):c.406C>T (p.Leu136Phe)
|
|
|
NM_020822.3(KCNT1):c.416C>T (p.Pro139Leu)
|
|
|
NM_020822.3(KCNT1):c.417G>A (p.Pro139=)
|
rs542441332
|
|
NM_020822.3(KCNT1):c.417G>C (p.Pro139=)
|
|
|
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.434+10G>C
|
rs187872786
|
|
NM_020822.3(KCNT1):c.434+14G>A
|
|
|
NM_020822.3(KCNT1):c.434+16G>A
|
rs560535799
|
|
NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr)
|
rs1831132002
|
|
NM_020822.3(KCNT1):c.435-10C>T
|
rs2131422803
|
|
NM_020822.3(KCNT1):c.435-17G>C
|
|
|
NM_020822.3(KCNT1):c.435-18C>T
|
rs1057523539
|
|
NM_020822.3(KCNT1):c.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.491+18C>G
|
rs748233532
|
|
NM_020822.3(KCNT1):c.491+18C>T
|
|
|
NM_020822.3(KCNT1):c.491+7C>T
|
rs538968704
|
|
NM_020822.3(KCNT1):c.492-10C>G
|
|
|
NM_020822.3(KCNT1):c.492-14C>G
|
|
|
NM_020822.3(KCNT1):c.492-15C>T
|
|
|
NM_020822.3(KCNT1):c.492-19G>A
|
|
|
NM_020822.3(KCNT1):c.492-3C>A
|
rs1831398385
|
|
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr)
|
rs149908455
|
|
NM_020822.3(KCNT1):c.497C>T (p.Pro166Leu)
|
|
|
NM_020822.3(KCNT1):c.498T>C (p.Pro166=)
|
rs1402179280
|
|
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser)
|
rs748898708
|
|
NM_020822.3(KCNT1):c.504G>A (p.Leu168=)
|
rs1588317741
|
|
NM_020822.3(KCNT1):c.504G>C (p.Leu168=)
|
|
|
NM_020822.3(KCNT1):c.513G>A (p.Glu171=)
|
|
|
NM_020822.3(KCNT1):c.513_516del (p.Arg172_Lys173insTer)
|
rs1831399744
|
|
NM_020822.3(KCNT1):c.518A>G (p.Lys173Arg)
|
rs1028292080
|
|
NM_020822.3(KCNT1):c.51G>A (p.Ala17=)
|
|
|
NM_020822.3(KCNT1):c.524C>T (p.Thr175Ile)
|
|
|
NM_020822.3(KCNT1):c.526C>T (p.Leu176=)
|
rs1395075330
|
|
NM_020822.3(KCNT1):c.528G>A (p.Leu176=)
|
rs2131427169
|
|
NM_020822.3(KCNT1):c.534G>A (p.Ala178=)
|
rs144250793
|
|
NM_020822.3(KCNT1):c.534G>C (p.Ala178=)
|
rs144250793
|
|
NM_020822.3(KCNT1):c.53G>A (p.Arg18His)
|
rs753714293
|
|
NM_020822.3(KCNT1):c.540+14C>T
|
|
|
NM_020822.3(KCNT1):c.540+23del
|
rs759524379
|
|
NM_020822.3(KCNT1):c.540G>A (p.Gln180=)
|
|
|
NM_020822.3(KCNT1):c.541-14T>C
|
|
|
NM_020822.3(KCNT1):c.541-16C>A
|
|
|
NM_020822.3(KCNT1):c.541-16C>T
|
|
|
NM_020822.3(KCNT1):c.541-17C>T
|
|
|
NM_020822.3(KCNT1):c.541-7C>A
|
rs1489319809
|
|
NM_020822.3(KCNT1):c.54C>A (p.Arg18=)
|
|
|
NM_020822.3(KCNT1):c.54C>G (p.Arg18=)
|
rs754697766
|
|
NM_020822.3(KCNT1):c.54C>T (p.Arg18=)
|
rs754697766
|
|
NM_020822.3(KCNT1):c.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.573G>A (p.Thr191=)
|
rs375310989
|
|
NM_020822.3(KCNT1):c.573G>C (p.Thr191=)
|
rs375310989
|
|
NM_020822.3(KCNT1):c.57C>G (p.Gly19=)
|
|
|
NM_020822.3(KCNT1):c.57C>T (p.Gly19=)
|
rs1245480933
|
|
NM_020822.3(KCNT1):c.582C>T (p.Leu194=)
|
|
|
NM_020822.3(KCNT1):c.588C>T (p.Tyr196=)
|
rs2131434951
|
|
NM_020822.3(KCNT1):c.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+11G>A
|
rs375220600
|
|
NM_020822.3(KCNT1):c.600+11G>T
|
|
|
NM_020822.3(KCNT1):c.600+12C>T
|
|
|
NM_020822.3(KCNT1):c.600+14C>T
|
|
|
NM_020822.3(KCNT1):c.600+15G>A
|
|
|
NM_020822.3(KCNT1):c.600+16G>A
|
rs764442404
|
|
NM_020822.3(KCNT1):c.600+17G>A
|
rs1182136206
|
|
NM_020822.3(KCNT1):c.600+3G>A
|
|
|
NM_020822.3(KCNT1):c.600+71dup
|
rs879903723
|
|
NM_020822.3(KCNT1):c.600+8C>T
|
rs1588321982
|
|
NM_020822.3(KCNT1):c.601-13C>T
|
rs202113794
|
|
NM_020822.3(KCNT1):c.601-13del
|
|
|
NM_020822.3(KCNT1):c.601-14C>T
|
|
|
NM_020822.3(KCNT1):c.601-17C>T
|
|
|
NM_020822.3(KCNT1):c.601-18C>A
|
|
|
NM_020822.3(KCNT1):c.601-18C>T
|
rs762196150
|
|
NM_020822.3(KCNT1):c.60_75del (p.Gly21fs)
|
rs2131304179
|
|
NM_020822.3(KCNT1):c.612G>T (p.Trp204Cys)
|
|
|
NM_020822.3(KCNT1):c.615G>A (p.Glu205=)
|
|
|
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.621C>A (p.Ile207=)
|
rs1185207674
|
|
NM_020822.3(KCNT1):c.626G>T (p.Arg209Leu)
|
|
|
NM_020822.3(KCNT1):c.627C>T (p.Arg209=)
|
rs1417508265
|
|
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.654C>T (p.Asn218=)
|
|
|
NM_020822.3(KCNT1):c.658C>G (p.Leu220Val)
|
|
|
NM_020822.3(KCNT1):c.672C>T (p.Ile224=)
|
|
|
NM_020822.3(KCNT1):c.675+11C>A
|
|
|
NM_020822.3(KCNT1):c.675+12C>G
|
rs1322006932
|
|
NM_020822.3(KCNT1):c.675+15G>T
|
rs1171483239
|
|
NM_020822.3(KCNT1):c.675+17_676-22del
|
|
|
NM_020822.3(KCNT1):c.676-11C>A
|
|
|
NM_020822.3(KCNT1):c.676-14T>C
|
|
|
NM_020822.3(KCNT1):c.676-18G>A
|
|
|
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.700C>T (p.Leu234=)
|
rs1831563332
|
|
NM_020822.3(KCNT1):c.701T>A (p.Leu234Gln)
|
rs201583448
|
|
NM_020822.3(KCNT1):c.702G>A (p.Leu234=)
|
rs2131438438
|
|
NM_020822.3(KCNT1):c.704del (p.Phe235fs)
|
rs1187172120
|
|
NM_020822.3(KCNT1):c.70A>C (p.Asn24His)
|
|
|
NM_020822.3(KCNT1):c.711C>G (p.Pro237=)
|
rs117286274
|
|
NM_020822.3(KCNT1):c.711C>T (p.Pro237=)
|
rs117286274
|
|
NM_020822.3(KCNT1):c.720G>C (p.Leu240=)
|
rs2131438525
|
|
NM_020822.3(KCNT1):c.73C>A (p.Arg25=)
|
|
|
NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
|
|
|
NM_020822.3(KCNT1):c.744G>T (p.Ala248=)
|
|
|
NM_020822.3(KCNT1):c.747G>A (p.Leu249=)
|
|
|
NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)
|
|
|
NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro)
|
rs764163914
|
|
NM_020822.3(KCNT1):c.752del (p.Asn251fs)
|
|
|
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu)
|
rs755782470
|
|
NM_020822.3(KCNT1):c.759+10G>A
|
rs1378294661
|
|
NM_020822.3(KCNT1):c.759+11G>T
|
|
|
NM_020822.3(KCNT1):c.759+12C>T
|
|
|
NM_020822.3(KCNT1):c.759+13G>C
|
rs375237065
|
|
NM_020822.3(KCNT1):c.759+13G>T
|
|
|
NM_020822.3(KCNT1):c.759+14G>C
|
rs2131438888
|
|
NM_020822.3(KCNT1):c.759+16G>A
|
rs1362410976
|
|
NM_020822.3(KCNT1):c.759+18G>A
|
rs748532863
|
|
NM_020822.3(KCNT1):c.759+18G>T
|
|
|
NM_020822.3(KCNT1):c.759+18del
|
|
|
NM_020822.3(KCNT1):c.759+18dup
|
|
|
NM_020822.3(KCNT1):c.760-13A>T
|
|
|
NM_020822.3(KCNT1):c.760-18C>T
|
|
|
NM_020822.3(KCNT1):c.760-20A>T
|
|
|
NM_020822.3(KCNT1):c.760-4A>C
|
rs2131444316
|
|
NM_020822.3(KCNT1):c.760-4A>G
|
rs2131444316
|
|
NM_020822.3(KCNT1):c.760-9C>T
|
rs1554771446
|
|
NM_020822.3(KCNT1):c.763G>A (p.Asp255Asn)
|
|
|
NM_020822.3(KCNT1):c.763del (p.Asp255fs)
|
rs755630818
|
|
NM_020822.3(KCNT1):c.768C>T (p.Phe256=)
|
rs1422265516
|
|
NM_020822.3(KCNT1):c.772C>T (p.Arg258Cys)
|
|
|
NM_020822.3(KCNT1):c.773G>A (p.Arg258His)
|
|
|
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)
|
rs1831666357
|
|
NM_020822.3(KCNT1):c.775G>T (p.Ala259Ser)
|
|
|
NM_020822.3(KCNT1):c.779T>C (p.Ile260Thr)
|
|
|
NM_020822.3(KCNT1):c.781C>T (p.Leu261=)
|
rs1588327182
|
|
NM_020822.3(KCNT1):c.784C>A (p.Arg262=)
|
|
|
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)
|
rs1554771469
|
|
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.808C>A (p.Gln270Lys)
|
|
|
NM_020822.3(KCNT1):c.814C>A (p.Leu272Ile)
|
rs757884130
|
|
NM_020822.3(KCNT1):c.814C>T (p.Leu272Phe)
|
|
|
NM_020822.3(KCNT1):c.816C>T (p.Leu272=)
|
rs764531029
|
|
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.825C>T (p.Phe275=)
|
|
|
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.852G>T (p.Thr284=)
|
|
|
NM_020822.3(KCNT1):c.854+13C>T
|
|
|
NM_020822.3(KCNT1):c.855-10G>A
|
rs1057521940
|
|
NM_020822.3(KCNT1):c.855-4G>T
|
|
|
NM_020822.3(KCNT1):c.855-7G>A
|
rs768046676
|
|
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.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys)
|
rs587777264
|
|
NM_020822.3(KCNT1):c.864C>T (p.Gly288=)
|
|
|
NM_020822.3(KCNT1):c.880C>A (p.Arg294=)
|
|
|
NM_020822.3(KCNT1):c.881G>A (p.Arg294Gln)
|
|
|
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser)
|
rs1831777941
|
|
NM_020822.3(KCNT1):c.895C>T (p.Leu299=)
|
rs2131450994
|
|
NM_020822.3(KCNT1):c.897G>A (p.Leu299=)
|
rs1197592007
|
|
NM_020822.3(KCNT1):c.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.91G>T (p.Asp31Tyr)
|
rs766377529
|
|
NM_020822.3(KCNT1):c.921C>T (p.Phe307=)
|
rs878855057
|
|
NM_020822.3(KCNT1):c.927C>T (p.Ile309=)
|
|
|
NM_020822.3(KCNT1):c.943G>A (p.Val315Met)
|
|
|
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys)
|
rs754823810
|
|
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.963G>C (p.Thr321=)
|
rs760300415
|
|
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
|
|
NM_020822.3(KCNT1):c.9C>T (p.Leu3=)
|
rs768423949
|
|