NM_000744.7(CHRNA4):c.228+26A>G
|
rs6090384
|
0.86813
|
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)
|
rs2229960
|
0.86626
|
NM_000742.4(CHRNA2):c.*1809T>C
|
rs2280375
|
0.86065
|
NM_000742.4(CHRNA2):c.*602T>C
|
rs2292976
|
0.85227
|
NM_000742.4(CHRNA2):c.*511G>C
|
rs2292977
|
0.82917
|
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)
|
rs1044394
|
0.80763
|
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
|
rs1044393
|
0.78554
|
NM_020822.3(KCNT1):c.1769+16A>G
|
rs10776844
|
0.72033
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
NM_000744.7(CHRNA4):c.*534C>T
|
rs2236196
|
0.62296
|
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala)
|
rs891398
|
0.58886
|
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_000742.4(CHRNA2):c.*1701C>A
|
rs1057137
|
0.42655
|
NM_000742.4(CHRNA2):c.*1159T>C
|
rs1560344
|
0.41008
|
NM_000742.4(CHRNA2):c.*755G>A
|
rs2292974
|
0.40756
|
NM_000742.4(CHRNA2):c.*721G>T
|
rs2292975
|
0.40648
|
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)
|
rs1044397
|
0.40553
|
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
|
rs1044396
|
0.40465
|
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_000742.4(CHRNA2):c.*1384C>T
|
rs2280376
|
0.23196
|
NM_000744.7(CHRNA4):c.1758+14A>G
|
rs3827020
|
0.19437
|
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=)
|
rs2565061
|
0.17492
|
NM_020822.3(KCNT1):c.2008+21G>A
|
rs7869884
|
0.16982
|
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile)
|
rs2472553
|
0.16614
|
NR_110634.1(LOC100130587):n.219C>T
|
rs6122429
|
0.15920
|
NM_000742.4(CHRNA2):c.-563T>A
|
rs2565060
|
0.15796
|
NM_020822.3(KCNT1):c.2944-19T>C
|
rs759060806
|
0.12219
|
NM_000748.3(CHRNB2):c.210+9A>G
|
rs3926124
|
0.10829
|
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)
|
rs2273506
|
0.09394
|
NM_000748.3(CHRNB2):c.1338+14G>T
|
rs4845378
|
0.07732
|
NM_000742.4(CHRNA2):c.-561A>T
|
rs111661898
|
0.06819
|
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)
|
rs79739740
|
0.05992
|
NM_000742.4(CHRNA2):c.-565T>A
|
rs879442926
|
0.04553
|
NM_000744.7(CHRNA4):c.1758+11C>T
|
rs45442394
|
0.04350
|
NM_000756.2(CRH):c.-669C>A
|
rs12721510
|
0.04273
|
NM_000742.4(CHRNA2):c.*1003G>A
|
rs74974243
|
0.04107
|
NM_000742.4(CHRNA2):c.*623G>A
|
rs79796894
|
0.02803
|
NM_000742.4(CHRNA2):c.*1480C>T
|
rs113471592
|
0.02800
|
NM_000742.4(CHRNA2):c.*936C>T
|
rs112587531
|
0.02798
|
NM_020822.3(KCNT1):c.978A>G (p.Pro326=)
|
rs61739517
|
0.02678
|
NM_020822.3(KCNT1):c.1036-15G>A
|
rs112341167
|
0.02567
|
NM_000744.7(CHRNA4):c.1759-14G>A
|
rs45440192
|
0.01945
|
NM_000748.2(CHRNB2):c.-296G>A
|
rs2072658
|
0.01801
|
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)
|
rs56298562
|
0.01760
|
NM_020822.3(KCNT1):c.3502+16G>A
|
rs112116686
|
0.01447
|
NM_020822.3(KCNT1):c.2943+6C>T
|
rs28612938
|
0.01429
|
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=)
|
rs114294066
|
0.01308
|
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=)
|
rs56229264
|
0.01257
|
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_000744.7(CHRNA4):c.24G>C (p.Ala8=)
|
rs6089898
|
0.00898
|
NM_020822.3(KCNT1):c.2729+9A>G
|
rs12005420
|
0.00858
|
NM_000742.4(CHRNA2):c.-424C>T
|
rs55726427
|
0.00829
|
NM_000742.4(CHRNA2):c.-422G>A
|
rs80025940
|
0.00813
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00688
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
NM_000744.7(CHRNA4):c.76+18G>T
|
rs199908363
|
0.00504
|
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_000742.4(CHRNA2):c.*1006G>A
|
rs145560154
|
0.00467
|
NM_000744.7(CHRNA4):c.384-11T>G
|
rs201015514
|
0.00425
|
NM_000742.4(CHRNA2):c.*108C>T
|
rs147882344
|
0.00421
|
NM_020822.3(KCNT1):c.30G>A (p.Pro10=)
|
rs139034501
|
0.00419
|
NM_000742.4(CHRNA2):c.*1446A>G
|
rs28697263
|
0.00411
|
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)
|
rs201051863
|
0.00399
|
NM_000742.4(CHRNA2):c.*285G>C
|
rs111565880
|
0.00356
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_000742.4(CHRNA2):c.*384G>A
|
rs76428534
|
0.00349
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
NM_000742.4(CHRNA2):c.-379T>C
|
rs75861520
|
0.00327
|
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_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00273
|
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)
|
rs55915440
|
0.00262
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00262
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00257
|
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=)
|
rs139114208
|
0.00243
|
NM_000742.4(CHRNA2):c.449+12T>C
|
rs202012980
|
0.00236
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_000742.4(CHRNA2):c.-447T>A
|
rs75312501
|
0.00225
|
NM_000742.4(CHRNA2):c.-45C>A
|
rs12114756
|
0.00222
|
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)
|
rs113168860
|
0.00222
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
|
rs75221202
|
0.00208
|
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)
|
rs75593857
|
0.00200
|
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_000744.7(CHRNA4):c.1662G>A (p.Pro554=)
|
rs121912284
|
0.00165
|
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_000744.7(CHRNA4):c.1758+16G>A
|
rs113109615
|
0.00153
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=)
|
rs143223159
|
0.00150
|
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=)
|
rs146904895
|
0.00143
|
NM_000744.7(CHRNA4):c.77-4G>A
|
rs201123897
|
0.00141
|
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=)
|
rs77912754
|
0.00140
|
NM_020822.3(KCNT1):c.435-17G>A
|
rs140115987
|
0.00140
|
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp)
|
rs112585933
|
0.00133
|
NM_000742.4(CHRNA2):c.*1849A>G
|
rs531828656
|
0.00130
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)
|
rs76270730
|
0.00122
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
NM_000742.4(CHRNA2):c.*1403C>G
|
rs376282591
|
0.00121
|
NM_000742.4(CHRNA2):c.*1117G>A
|
rs7840761
|
0.00117
|
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_000742.4(CHRNA2):c.1100G>A (p.Arg367Gln)
|
rs149464248
|
0.00091
|
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)
|
rs143355299
|
0.00090
|
NM_000744.7(CHRNA4):c.1160A>G (p.Glu387Gly)
|
rs45604738
|
0.00088
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
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_000744.7(CHRNA4):c.384-18C>T
|
rs200407438
|
0.00087
|
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=)
|
rs143198263
|
0.00087
|
NM_020822.3(KCNT1):c.854+10G>A
|
rs146470183
|
0.00087
|
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
|
rs79137415
|
0.00084
|
NM_020822.3(KCNT1):c.2842-15C>T
|
rs372262576
|
0.00083
|
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=)
|
rs61737042
|
0.00082
|
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=)
|
rs140628824
|
0.00081
|
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp)
|
rs76378652
|
0.00080
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_020822.3(KCNT1):c.1619+18C>T
|
rs183348093
|
0.00074
|
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=)
|
rs143536618
|
0.00073
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=)
|
rs56069517
|
0.00068
|
NM_020822.3(KCNT1):c.3503-18C>T
|
rs373901872
|
0.00068
|
NM_020822.3(KCNT1):c.601-13C>G
|
rs202113794
|
0.00068
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
NM_000742.4(CHRNA2):c.*1603C>A
|
rs535057169
|
0.00064
|
NM_000744.7(CHRNA4):c.258C>T (p.Asn86=)
|
rs140239470
|
0.00064
|
NM_000742.4(CHRNA2):c.*771C>T
|
rs572058986
|
0.00063
|
NM_020822.3(KCNT1):c.1770-16C>T
|
rs192658955
|
0.00059
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=)
|
rs8192486
|
0.00058
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=)
|
rs147530139
|
0.00055
|
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)
|
rs139694653
|
0.00055
|
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)
|
rs144659358
|
0.00055
|
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)
|
rs71651692
|
0.00054
|
NM_000742.4(CHRNA2):c.*1392A>G
|
rs564765220
|
0.00052
|
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg)
|
rs146751925
|
0.00051
|
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=)
|
rs113080067
|
0.00051
|
NM_020822.3(KCNT1):c.3028-14T>G
|
rs539727852
|
0.00050
|
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=)
|
rs565990502
|
0.00048
|
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_000742.4(CHRNA2):c.1530C>T (p.Ile510=)
|
rs149142237
|
0.00046
|
NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys)
|
rs140350483
|
0.00045
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
NM_020822.3(KCNT1):c.3502+12C>T
|
rs367727105
|
0.00043
|
NM_020822.3(KCNT1):c.760-19G>A
|
rs375929015
|
0.00043
|
NM_000742.4(CHRNA2):c.210C>T (p.Tyr70=)
|
rs144316375
|
0.00041
|
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=)
|
rs370155559
|
0.00041
|
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser)
|
rs144185168
|
0.00040
|
NM_000744.7(CHRNA4):c.1431G>A (p.Ala477=)
|
rs80307076
|
0.00040
|
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
|
rs141721605
|
0.00039
|
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=)
|
rs149921259
|
0.00039
|
NM_020822.3(KCNT1):c.-1C>A
|
rs149383208
|
0.00039
|
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp)
|
rs370085077
|
0.00037
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
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_000742.4(CHRNA2):c.*29G>A
|
rs186509115
|
0.00034
|
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_000744.7(CHRNA4):c.384-9C>T
|
rs199992800
|
0.00030
|
NM_000744.7(CHRNA4):c.462G>A (p.Pro154=)
|
rs121912245
|
0.00030
|
NM_020822.3(KCNT1):c.2008+7C>T
|
rs372707698
|
0.00030
|
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=)
|
rs374347802
|
0.00030
|
NM_000742.4(CHRNA2):c.340-15C>A
|
rs373046238
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_000742.4(CHRNA2):c.966G>A (p.Ser322=)
|
rs140118184
|
0.00029
|
NM_000744.7(CHRNA4):c.1711G>A (p.Val571Ile)
|
rs121912285
|
0.00029
|
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)
|
rs146651027
|
0.00029
|
NM_020822.3(KCNT1):c.334+10G>A
|
rs185209587
|
0.00029
|
NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=)
|
rs199829902
|
0.00028
|
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=)
|
rs144068763
|
0.00028
|
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=)
|
rs142646795
|
0.00027
|
NM_000744.7(CHRNA4):c.879C>T (p.Thr293=)
|
rs371527699
|
0.00027
|
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_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu)
|
rs45622132
|
0.00026
|
NM_000744.7(CHRNA4):c.76+14C>A
|
rs6090386
|
0.00026
|
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_000742.4(CHRNA2):c.*386G>T
|
rs542172546
|
0.00025
|
NM_000742.4(CHRNA2):c.1437C>T (p.His479=)
|
rs374849310
|
0.00025
|
NM_000744.7(CHRNA4):c.1415C>T (p.Ser472Phe)
|
rs534477048
|
0.00025
|
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)
|
rs138352399
|
0.00025
|
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu)
|
rs121912268
|
0.00024
|
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=)
|
rs113116986
|
0.00024
|
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=)
|
rs138886952
|
0.00024
|
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_000744.7(CHRNA4):c.1538G>A (p.Arg513His)
|
rs868845088
|
0.00023
|
NM_000744.7(CHRNA4):c.1551G>A (p.Ser517=)
|
rs201441215
|
0.00023
|
NM_020822.3(KCNT1):c.1620-16C>G
|
rs369334561
|
0.00023
|
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys)
|
rs138109494
|
0.00023
|
NM_000744.7(CHRNA4):c.126G>A (p.Lys42=)
|
rs149588336
|
0.00021
|
NM_000744.7(CHRNA4):c.1584G>A (p.Pro528=)
|
rs199783192
|
0.00021
|
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
|
rs121912283
|
0.00021
|
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)
|
rs143103435
|
0.00021
|
NM_000756.3(CRH):c.-365G>C
|
rs72556399
|
0.00021
|
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_000742.4(CHRNA2):c.295-12T>G
|
rs369707163
|
0.00020
|
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=)
|
rs377516058
|
0.00020
|
NM_000742.4(CHRNA2):c.1464+20G>A
|
rs377015162
|
0.00019
|
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_000742.4(CHRNA2):c.45C>T (p.Ser15=)
|
rs149934219
|
0.00018
|
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_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)
|
rs55855125
|
0.00016
|
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser)
|
rs774449832
|
0.00016
|
NM_000748.3(CHRNB2):c.483C>T (p.His161=)
|
rs190967991
|
0.00016
|
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_000742.4(CHRNA2):c.173C>T (p.Thr58Ile)
|
rs151268950
|
0.00015
|
NM_020822.3(KCNT1):c.2350-10C>T
|
rs367855961
|
0.00015
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
NM_000742.4(CHRNA2):c.-544C>T
|
rs886062851
|
0.00014
|
NM_000744.7(CHRNA4):c.1269G>C (p.Lys423Asn)
|
rs199916140
|
0.00014
|
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser)
|
rs78306886
|
0.00014
|
NM_000744.7(CHRNA4):c.384-17G>A
|
rs200449795
|
0.00014
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
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_000742.4(CHRNA2):c.401G>A (p.Arg134Lys)
|
rs150112824
|
0.00013
|
NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu)
|
rs121912277
|
0.00013
|
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp)
|
rs200200279
|
0.00013
|
NM_000756.4(CRH):c.89C>G (p.Pro30Arg)
|
rs748404250
|
0.00013
|
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_000742.4(CHRNA2):c.246C>T (p.Asp82=)
|
rs201244136
|
0.00011
|
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg)
|
rs113794453
|
0.00011
|
NM_000744.7(CHRNA4):c.1758+9C>T
|
rs202235637
|
0.00011
|
NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys)
|
rs144716263
|
0.00011
|
NM_000744.7(CHRNA4):c.693G>A (p.Pro231=)
|
rs121912250
|
0.00011
|
NM_000744.7(CHRNA4):c.948C>T (p.Phe316=)
|
rs121912259
|
0.00011
|
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)
|
rs71651693
|
0.00011
|
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_000742.4(CHRNA2):c.*997C>G
|
rs539161001
|
0.00010
|
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln)
|
rs568479156
|
0.00010
|
NM_000744.7(CHRNA4):c.1228G>A (p.Val410Ile)
|
rs121912272
|
0.00010
|
NM_000744.7(CHRNA4):c.1645C>T (p.Arg549Cys)
|
rs367658654
|
0.00010
|
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)
|
rs200010568
|
0.00010
|
NM_000744.7(CHRNA4):c.384-8C>G
|
rs369806756
|
0.00010
|
NM_000744.7(CHRNA4):c.95C>A (p.Thr32Asn)
|
rs200601170
|
0.00010
|
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)
|
rs141735618
|
0.00010
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
0.00010
|
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_000742.4(CHRNA2):c.1202A>G (p.Tyr401Cys)
|
rs370964466
|
0.00009
|
NM_000742.4(CHRNA2):c.984C>T (p.Ile328=)
|
rs371858399
|
0.00009
|
NM_000744.7(CHRNA4):c.1245G>A (p.Pro415=)
|
rs200164578
|
0.00009
|
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)
|
rs796052318
|
0.00009
|
NM_000744.7(CHRNA4):c.1359C>T (p.His453=)
|
rs121912276
|
0.00009
|
NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr)
|
rs199852690
|
0.00009
|
NM_000744.7(CHRNA4):c.186C>T (p.Val62=)
|
rs200250180
|
0.00009
|
NM_000744.7(CHRNA4):c.229-10G>T
|
rs776781462
|
0.00009
|
NM_000744.7(CHRNA4):c.282C>T (p.His94=)
|
rs754402670
|
0.00009
|
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=)
|
rs121912253
|
0.00009
|
NM_000744.7(CHRNA4):c.963C>T (p.Ile321=)
|
rs121912261
|
0.00009
|
NM_000748.3(CHRNB2):c.1084C>T (p.Arg362Cys)
|
rs199928622
|
0.00009
|
NM_000748.3(CHRNB2):c.1339-6A>T
|
rs200177119
|
0.00009
|
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_000744.7(CHRNA4):c.1087G>A (p.Val363Met)
|
rs121912266
|
0.00008
|
NM_000744.7(CHRNA4):c.1148G>A (p.Arg383His)
|
rs762374374
|
0.00008
|
NM_000744.7(CHRNA4):c.1510G>A (p.Gly504Ser)
|
rs201244483
|
0.00008
|
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=)
|
rs201488442
|
0.00008
|
NM_000748.3(CHRNB2):c.1488C>T (p.His496=)
|
rs200582284
|
0.00008
|
NM_000748.3(CHRNB2):c.211-13T>C
|
rs201514937
|
0.00008
|
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_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp)
|
rs751699392
|
0.00007
|
NM_000742.4(CHRNA2):c.759C>T (p.Pro253=)
|
rs144913811
|
0.00007
|
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln)
|
rs200007766
|
0.00007
|
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=)
|
rs137860047
|
0.00007
|
NM_000744.7(CHRNA4):c.414G>A (p.Leu138=)
|
rs769287364
|
0.00007
|
NM_000744.7(CHRNA4):c.852G>A (p.Ser284=)
|
rs199741056
|
0.00007
|
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=)
|
rs140739605
|
0.00007
|
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_000742.4(CHRNA2):c.-136-14T>C
|
rs886062847
|
0.00006
|
NM_000742.4(CHRNA2):c.-78C>G
|
rs886062845
|
0.00006
|
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn)
|
rs141072985
|
0.00006
|
NM_000744.7(CHRNA4):c.1116C>T (p.Ile372=)
|
rs199889002
|
0.00006
|
NM_000744.7(CHRNA4):c.1266C>T (p.Cys422=)
|
rs121912274
|
0.00006
|
NM_000744.7(CHRNA4):c.1300C>A (p.Pro434Thr)
|
rs545104411
|
0.00006
|
NM_000744.7(CHRNA4):c.1334C>T (p.Ser445Leu)
|
rs773253903
|
0.00006
|
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=)
|
rs200705061
|
0.00006
|
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val)
|
rs200243948
|
0.00006
|
NM_000744.7(CHRNA4):c.1440C>T (p.Gly480=)
|
rs749506890
|
0.00006
|
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln)
|
rs755416498
|
0.00006
|
NM_000744.7(CHRNA4):c.1535C>G (p.Ser512Cys)
|
rs754133410
|
0.00006
|
NM_000744.7(CHRNA4):c.1583C>T (p.Pro528Leu)
|
rs201739273
|
0.00006
|
NM_000744.7(CHRNA4):c.1609C>T (p.Pro537Ser)
|
rs758895760
|
0.00006
|
NM_000744.7(CHRNA4):c.1815G>A (p.Met605Ile)
|
rs774394637
|
0.00006
|
NM_000744.7(CHRNA4):c.1825G>A (p.Val609Ile)
|
rs201168195
|
0.00006
|
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala)
|
rs1025632281
|
0.00006
|
NM_000744.7(CHRNA4):c.383+13C>T
|
rs199761642
|
0.00006
|
NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu)
|
rs121912244
|
0.00006
|
NM_000744.7(CHRNA4):c.553G>A (p.Asp185Asn)
|
rs200979226
|
0.00006
|
NM_000744.7(CHRNA4):c.711C>T (p.Phe237=)
|
rs144446511
|
0.00006
|
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)
|
rs202114705
|
0.00006
|
NM_000748.3(CHRNB2):c.1359C>T (p.Tyr453=)
|
rs761717685
|
0.00006
|
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His)
|
rs144508607
|
0.00006
|
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_000742.4(CHRNA2):c.1158C>T (p.Pro386=)
|
rs560790452
|
0.00005
|
NM_000742.4(CHRNA2):c.1222G>C (p.Val408Leu)
|
rs771994243
|
0.00005
|
NM_000742.4(CHRNA2):c.1245G>A (p.Val415=)
|
rs373599393
|
0.00005
|
NM_000742.4(CHRNA2):c.1431C>T (p.Ala477=)
|
rs373912586
|
0.00005
|
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=)
|
rs796052305
|
0.00005
|
NM_000742.4(CHRNA2):c.168C>T (p.Thr56=)
|
rs200729883
|
0.00005
|
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp)
|
rs376970816
|
0.00005
|
NM_000742.4(CHRNA2):c.416T>C (p.Met139Thr)
|
rs770447351
|
0.00005
|
NM_000744.7(CHRNA4):c.1086C>T (p.Ser362=)
|
rs74396179
|
0.00005
|
NM_000744.7(CHRNA4):c.1188C>T (p.Ser396=)
|
rs201164674
|
0.00005
|
NM_000744.7(CHRNA4):c.1278C>T (p.Ser426=)
|
rs202169925
|
0.00005
|
NM_000744.7(CHRNA4):c.1525G>A (p.Ala509Thr)
|
rs142137599
|
0.00005
|
NM_000744.7(CHRNA4):c.1759-4G>A
|
rs374354698
|
0.00005
|
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)
|
rs200259564
|
0.00005
|
NM_000744.7(CHRNA4):c.552C>T (p.Tyr184=)
|
rs112301452
|
0.00005
|
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)
|
rs767533378
|
0.00005
|
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp)
|
rs77710036
|
0.00005
|
NM_000748.3(CHRNB2):c.1339-16C>T
|
rs117167810
|
0.00005
|
NM_000748.3(CHRNB2):c.210+10G>A
|
rs200196583
|
0.00005
|
NM_000748.3(CHRNB2):c.348T>C (p.Asp116=)
|
rs78921047
|
0.00005
|
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=)
|
rs369234693
|
0.00005
|
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_000742.4(CHRNA2):c.*159G>A
|
rs1026564153
|
0.00004
|
NM_000742.4(CHRNA2):c.*1752G>A
|
rs1040675339
|
0.00004
|
NM_000742.4(CHRNA2):c.*1775C>T
|
rs773958762
|
0.00004
|
NM_000742.4(CHRNA2):c.-537C>T
|
rs564405421
|
0.00004
|
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His)
|
rs368791756
|
0.00004
|
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile)
|
rs74341575
|
0.00004
|
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)
|
rs137965290
|
0.00004
|
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala)
|
rs746613509
|
0.00004
|
NM_000742.4(CHRNA2):c.1198T>A (p.Ser400Thr)
|
rs771693410
|
0.00004
|
NM_000742.4(CHRNA2):c.1317C>T (p.His439=)
|
rs775578495
|
0.00004
|
NM_000742.4(CHRNA2):c.1569G>A (p.Pro523=)
|
rs199993564
|
0.00004
|
NM_000742.4(CHRNA2):c.222G>A (p.Ala74=)
|
rs369806823
|
0.00004
|
NM_000742.4(CHRNA2):c.276C>T (p.Ile92=)
|
rs201944711
|
0.00004
|
NM_000742.4(CHRNA2):c.288C>T (p.Ile96=)
|
rs561008438
|
0.00004
|
NM_000742.4(CHRNA2):c.289G>A (p.Asp97Asn)
|
rs775714882
|
0.00004
|
NM_000742.4(CHRNA2):c.615T>G (p.Thr205=)
|
rs370425843
|
0.00004
|
NM_000742.4(CHRNA2):c.777C>T (p.Phe259=)
|
rs77769511
|
0.00004
|
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu)
|
rs767619637
|
0.00004
|
NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu)
|
rs367914235
|
0.00004
|
NM_000742.4(CHRNA2):c.906G>A (p.Ser302=)
|
rs151068685
|
0.00004
|
NM_000744.7(CHRNA4):c.1033C>T (p.Arg345Cys)
|
rs142260793
|
0.00004
|
NM_000744.7(CHRNA4):c.1044C>T (p.Phe348=)
|
rs199504576
|
0.00004
|
NM_000744.7(CHRNA4):c.1104C>T (p.Cys368=)
|
rs202166947
|
0.00004
|
NM_000744.7(CHRNA4):c.1138A>G (p.Ser380Gly)
|
rs187372416
|
0.00004
|
NM_000744.7(CHRNA4):c.1189G>A (p.Gly397Ser)
|
rs200667912
|
0.00004
|
NM_000744.7(CHRNA4):c.1402G>A (p.Val468Ile)
|
rs121912278
|
0.00004
|
NM_000744.7(CHRNA4):c.1443C>T (p.Gly481=)
|
rs1057522022
|
0.00004
|
NM_000744.7(CHRNA4):c.1483C>T (p.Arg495Ter)
|
rs765379481
|
0.00004
|
NM_000744.7(CHRNA4):c.1522G>A (p.Gly508Ser)
|
rs111286066
|
0.00004
|
NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu)
|
rs121912281
|
0.00004
|
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)
|
rs764888239
|
0.00004
|
NM_000744.7(CHRNA4):c.1682C>T (p.Ser561Leu)
|
rs199949135
|
0.00004
|
NM_000744.7(CHRNA4):c.1708G>C (p.Gly570Arg)
|
rs771468419
|
0.00004
|
NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu)
|
rs200644872
|
0.00004
|
NM_000744.7(CHRNA4):c.1759-17G>A
|
rs201735615
|
0.00004
|
NM_000744.7(CHRNA4):c.383+7C>T
|
rs200690355
|
0.00004
|
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)
|
rs112748821
|
0.00004
|
NM_000744.7(CHRNA4):c.537C>T (p.Phe179=)
|
rs747499031
|
0.00004
|
NM_000744.7(CHRNA4):c.585C>G (p.His195Gln)
|
rs121912248
|
0.00004
|
NM_000744.7(CHRNA4):c.590G>A (p.Arg197His)
|
rs373516964
|
0.00004
|
NM_000744.7(CHRNA4):c.633C>T (p.Ile211=)
|
rs769813725
|
0.00004
|
NM_000744.7(CHRNA4):c.669C>T (p.Tyr223=)
|
rs79068736
|
0.00004
|
NM_000744.7(CHRNA4):c.692C>T (p.Pro231Leu)
|
rs763248360
|
0.00004
|
NM_000744.7(CHRNA4):c.828G>A (p.Thr276=)
|
rs2234932
|
0.00004
|
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=)
|
rs121912257
|
0.00004
|
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)
|
rs201841018
|
0.00004
|
NM_000748.3(CHRNB2):c.1069G>T (p.Ala357Ser)
|
rs1421654764
|
0.00004
|
NM_000748.3(CHRNB2):c.1073G>A (p.Arg358His)
|
rs770156397
|
0.00004
|
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr)
|
rs778714852
|
0.00004
|
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys)
|
rs542041934
|
0.00004
|
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His)
|
rs199999862
|
0.00004
|
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp)
|
rs945492622
|
0.00004
|
NM_000748.3(CHRNB2):c.1413C>T (p.Val471=)
|
rs772270570
|
0.00004
|
NM_000748.3(CHRNB2):c.201C>T (p.Leu67=)
|
rs773706734
|
0.00004
|
NM_000748.3(CHRNB2):c.372C>T (p.Asp124=)
|
rs151054217
|
0.00004
|
NM_000748.3(CHRNB2):c.447C>T (p.Ala149=)
|
rs755205867
|
0.00004
|
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys)
|
rs1469333218
|
0.00004
|
NM_000748.3(CHRNB2):c.594A>G (p.Thr198=)
|
rs749930516
|
0.00004
|
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His)
|
rs79646221
|
0.00004
|
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met)
|
rs145893879
|
0.00004
|
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_000742.4(CHRNA2):c.*1265T>G
|
rs973667975
|
0.00003
|
NM_000742.4(CHRNA2):c.1002C>T (p.Phe334=)
|
rs780941610
|
0.00003
|
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp)
|
rs188098799
|
0.00003
|
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe)
|
rs796052307
|
0.00003
|
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter)
|
rs530383631
|
0.00003
|
NM_000742.4(CHRNA2):c.1352C>T (p.Ala451Val)
|
rs753892989
|
0.00003
|
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly)
|
rs150254933
|
0.00003
|
NM_000742.4(CHRNA2):c.1465-2A>G
|
rs1279319311
|
0.00003
|
NM_000742.4(CHRNA2):c.1465-3C>T
|
rs375469296
|
0.00003
|
NM_000742.4(CHRNA2):c.1575A>G (p.Leu525=)
|
rs1040135347
|
0.00003
|
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu)
|
rs761493925
|
0.00003
|
NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu)
|
rs199810678
|
0.00003
|
NM_000742.4(CHRNA2):c.228G>A (p.Pro76=)
|
rs200277900
|
0.00003
|
NM_000742.4(CHRNA2):c.354C>T (p.Tyr118=)
|
rs778279138
|
0.00003
|
NM_000742.4(CHRNA2):c.482C>T (p.Thr161Ile)
|
rs376045534
|
0.00003
|
NM_000742.4(CHRNA2):c.525C>T (p.Pro175=)
|
rs1026442070
|
0.00003
|
NM_000742.4(CHRNA2):c.697A>C (p.Ile233Leu)
|
rs780491416
|
0.00003
|
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys)
|
rs139727115
|
0.00003
|
NM_000742.4(CHRNA2):c.900C>T (p.Cys300=)
|
rs779197511
|
0.00003
|
NM_000744.7(CHRNA4):c.1061G>A (p.Arg354His)
|
rs200605749
|
0.00003
|
NM_000744.7(CHRNA4):c.109G>A (p.Glu37Lys)
|
rs778087682
|
0.00003
|
NM_000744.7(CHRNA4):c.1224C>T (p.Phe408=)
|
rs121912271
|
0.00003
|
NM_000744.7(CHRNA4):c.1230C>A (p.Val410=)
|
rs377273964
|
0.00003
|
NM_000744.7(CHRNA4):c.1318G>C (p.Ala440Pro)
|
rs771136225
|
0.00003
|
NM_000744.7(CHRNA4):c.1327C>G (p.His443Asp)
|
rs796052319
|
0.00003
|
NM_000744.7(CHRNA4):c.1388C>G (p.Ala463Gly)
|
rs1381116077
|
0.00003
|
NM_000744.7(CHRNA4):c.1403T>C (p.Val468Ala)
|
rs766778904
|
0.00003
|
NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=)
|
rs121912279
|
0.00003
|
NM_000744.7(CHRNA4):c.1484G>C (p.Arg495Pro)
|
rs549863396
|
0.00003
|
NM_000744.7(CHRNA4):c.1500C>T (p.Pro500=)
|
rs201391859
|
0.00003
|
NM_000744.7(CHRNA4):c.1521C>T (p.Ala507=)
|
rs138865255
|
0.00003
|
NM_000744.7(CHRNA4):c.162C>T (p.Pro54=)
|
rs776104392
|
0.00003
|
NM_000744.7(CHRNA4):c.1689C>T (p.Ala563=)
|
rs374172256
|
0.00003
|
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln)
|
rs200810080
|
0.00003
|
NM_000744.7(CHRNA4):c.1742A>G (p.Glu581Gly)
|
rs767165466
|
0.00003
|
NM_000744.7(CHRNA4):c.177G>A (p.Ser59=)
|
rs138295365
|
0.00003
|
NM_000744.7(CHRNA4):c.193C>T (p.Arg65Cys)
|
rs748440038
|
0.00003
|
NM_000744.7(CHRNA4):c.273+7G>A
|
rs202233788
|
0.00003
|
NM_000744.7(CHRNA4):c.327C>T (p.Thr109=)
|
rs200741415
|
0.00003
|
NM_000744.7(CHRNA4):c.411C>T (p.His137=)
|
rs201467277
|
0.00003
|
NM_000744.7(CHRNA4):c.438C>T (p.Asp146=)
|
rs147853603
|
0.00003
|
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)
|
rs121912243
|
0.00003
|
NM_000744.7(CHRNA4):c.501C>T (p.Phe167=)
|
rs374602963
|
0.00003
|
NM_000744.7(CHRNA4):c.591C>T (p.Arg197=)
|
rs776092779
|
0.00003
|
NM_000744.7(CHRNA4):c.807C>T (p.Ser269=)
|
rs201335931
|
0.00003
|
NM_000744.7(CHRNA4):c.817G>A (p.Glu273Lys)
|
rs758885593
|
0.00003
|
NM_000744.7(CHRNA4):c.912A>G (p.Pro304=)
|
rs1041716120
|
0.00003
|
NM_000744.7(CHRNA4):c.931C>T (p.Leu311=)
|
rs767662811
|
0.00003
|
NM_000744.7(CHRNA4):c.99G>C (p.Arg33=)
|
rs539718301
|
0.00003
|
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln)
|
rs141689121
|
0.00003
|
NM_000748.3(CHRNB2):c.1061A>C (p.His354Pro)
|
rs201793956
|
0.00003
|
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu)
|
rs1303546196
|
0.00003
|
NM_000748.3(CHRNB2):c.1338+10G>A
|
rs903039235
|
0.00003
|
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys)
|
rs746480833
|
0.00003
|
NM_000748.3(CHRNB2):c.30G>A (p.Leu10=)
|
rs1403853764
|
0.00003
|
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp)
|
rs372273025
|
0.00003
|
NM_000748.3(CHRNB2):c.321C>G (p.Leu107=)
|
rs375527798
|
0.00003
|
NM_000748.3(CHRNB2):c.432C>T (p.Phe144=)
|
rs199536721
|
0.00003
|
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr)
|
rs769929506
|
0.00003
|
NM_000748.3(CHRNB2):c.64+14G>T
|
rs187976777
|
0.00003
|
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_000742.4(CHRNA2):c.-137+11T>C
|
rs886062848
|
0.00002
|
NM_000742.4(CHRNA2):c.-471G>A
|
rs886062850
|
0.00002
|
NM_000742.4(CHRNA2):c.1019C>T (p.Thr340Ile)
|
rs758255768
|
0.00002
|
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn)
|
rs767656036
|
0.00002
|
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)
|
rs770305730
|
0.00002
|
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln)
|
rs374512926
|
0.00002
|
NM_000742.4(CHRNA2):c.1165C>T (p.Leu389Phe)
|
rs796052303
|
0.00002
|
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala)
|
rs747909980
|
0.00002
|
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)
|
rs767138285
|
0.00002
|
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)
|
rs528528743
|
0.00002
|
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)
|
rs796052306
|
0.00002
|
NM_000742.4(CHRNA2):c.247G>A (p.Val83Met)
|
rs757700781
|
0.00002
|
NM_000742.4(CHRNA2):c.294+5G>A
|
rs774398407
|
0.00002
|
NM_000742.4(CHRNA2):c.394T>A (p.Ser132Thr)
|
rs775662796
|
0.00002
|
NM_000742.4(CHRNA2):c.417G>T (p.Met139Ile)
|
rs748755253
|
0.00002
|
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu)
|
rs796052297
|
0.00002
|
NM_000742.4(CHRNA2):c.472A>G (p.Thr158Ala)
|
rs756730967
|
0.00002
|
NM_000742.4(CHRNA2):c.558C>T (p.Asp186=)
|
rs749496919
|
0.00002
|
NM_000742.4(CHRNA2):c.600G>A (p.Lys200=)
|
rs764830161
|
0.00002
|
NM_000742.4(CHRNA2):c.688G>A (p.Glu230Lys)
|
rs747493891
|
0.00002
|
NM_000742.4(CHRNA2):c.762C>T (p.Asp254=)
|
rs769975305
|
0.00002
|
NM_000742.4(CHRNA2):c.874G>A (p.Asp292Asn)
|
rs774054592
|
0.00002
|
NM_000742.4(CHRNA2):c.880G>A (p.Gly294Ser)
|
rs1039488837
|
0.00002
|
NM_000742.4(CHRNA2):c.924C>T (p.Thr308=)
|
rs752321195
|
0.00002
|
NM_000742.4(CHRNA2):c.930C>T (p.Phe310=)
|
rs554976506
|
0.00002
|
NM_000744.7(CHRNA4):c.1012C>G (p.His338Asp)
|
rs200069626
|
0.00002
|
NM_000744.7(CHRNA4):c.1050C>T (p.Asp350=)
|
rs751875597
|
0.00002
|
NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met)
|
rs121912264
|
0.00002
|
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu)
|
rs267606048
|
0.00002
|
NM_000744.7(CHRNA4):c.1083G>A (p.Pro361=)
|
rs202140852
|
0.00002
|
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln)
|
rs121912267
|
0.00002
|
NM_000744.7(CHRNA4):c.1110G>A (p.Arg370=)
|
rs150852982
|
0.00002
|
NM_000744.7(CHRNA4):c.118C>T (p.Leu40Phe)
|
rs1568819698
|
0.00002
|
NM_000744.7(CHRNA4):c.1215A>G (p.Ser405=)
|
rs1171154554
|
0.00002
|
NM_000744.7(CHRNA4):c.1217C>T (p.Pro406Leu)
|
rs777222517
|
0.00002
|
NM_000744.7(CHRNA4):c.1337C>T (p.Pro446Leu)
|
rs769897766
|
0.00002
|
NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu)
|
rs753201154
|
0.00002
|
NM_000744.7(CHRNA4):c.1395C>T (p.Ser465=)
|
rs748016098
|
0.00002
|
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser)
|
rs1043176387
|
0.00002
|
NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr)
|
rs1317529556
|
0.00002
|
NM_000744.7(CHRNA4):c.1421C>G (p.Pro474Arg)
|
rs199778549
|
0.00002
|
NM_000744.7(CHRNA4):c.1531G>T (p.Ala511Ser)
|
rs200795334
|
0.00002
|
NM_000744.7(CHRNA4):c.1537C>T (p.Arg513Cys)
|
rs201864944
|
0.00002
|
NM_000744.7(CHRNA4):c.1617G>A (p.Ser539=)
|
rs779117156
|
0.00002
|
NM_000744.7(CHRNA4):c.1661C>T (p.Pro554Leu)
|
rs56000199
|
0.00002
|
NM_000744.7(CHRNA4):c.1685C>T (p.Pro562Leu)
|
rs200750362
|
0.00002
|
NM_000744.7(CHRNA4):c.1710C>T (p.Gly570=)
|
rs1259026322
|
0.00002
|
NM_000744.7(CHRNA4):c.1732C>T (p.Leu578=)
|
rs199506324
|
0.00002
|
NM_000744.7(CHRNA4):c.1779C>T (p.Tyr593=)
|
rs201347598
|
0.00002
|
NM_000744.7(CHRNA4):c.181G>A (p.Val61Met)
|
rs150451372
|
0.00002
|
NM_000744.7(CHRNA4):c.194G>A (p.Arg65His)
|
rs200867143
|
0.00002
|
NM_000744.7(CHRNA4):c.228+10G>T
|
rs759148756
|
0.00002
|
NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met)
|
rs199699339
|
0.00002
|
NM_000744.7(CHRNA4):c.273+13G>A
|
rs1016874156
|
0.00002
|
NM_000744.7(CHRNA4):c.334C>T (p.Arg112Cys)
|
rs375654386
|
0.00002
|
NM_000744.7(CHRNA4):c.345C>T (p.Ser115=)
|
rs201033859
|
0.00002
|
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro)
|
rs1060503516
|
0.00002
|
NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu)
|
rs377114983
|
0.00002
|
NM_000744.7(CHRNA4):c.384-14C>G
|
rs202150684
|
0.00002
|
NM_000744.7(CHRNA4):c.390C>T (p.Asp130=)
|
rs375014053
|
0.00002
|
NM_000744.7(CHRNA4):c.401C>T (p.Ala134Val)
|
rs201376529
|
0.00002
|
NM_000744.7(CHRNA4):c.510C>T (p.Phe170=)
|
rs121912247
|
0.00002
|
NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly)
|
rs200197645
|
0.00002
|
NM_000744.7(CHRNA4):c.640G>A (p.Ala214Thr)
|
rs758348186
|
0.00002
|
NM_000744.7(CHRNA4):c.712G>A (p.Val238Ile)
|
rs745790876
|
0.00002
|
NM_000744.7(CHRNA4):c.751A>G (p.Ile251Val)
|
rs776882201
|
0.00002
|
NM_000744.7(CHRNA4):c.754A>G (p.Ile252Val)
|
rs201865234
|
0.00002
|
NM_000744.7(CHRNA4):c.808G>A (p.Glu270Lys)
|
rs765977956
|
0.00002
|
NM_000744.7(CHRNA4):c.961A>G (p.Ile321Val)
|
rs375340441
|
0.00002
|
NM_000744.7(CHRNA4):c.964G>A (p.Val322Ile)
|
rs779790555
|
0.00002
|
NM_000744.7(CHRNA4):c.971C>T (p.Thr324Met)
|
rs531615515
|
0.00002
|
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val)
|
rs141511378
|
0.00002
|
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=)
|
rs778458803
|
0.00002
|
NM_000748.3(CHRNB2):c.1080C>A (p.Arg360=)
|
rs1180459670
|
0.00002
|
NM_000748.3(CHRNB2):c.1091G>A (p.Arg364Gln)
|
rs751625142
|
0.00002
|
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser)
|
rs753731408
|
0.00002
|
NM_000748.3(CHRNB2):c.1146A>G (p.Pro382=)
|
rs201986342
|
0.00002
|
NM_000748.3(CHRNB2):c.1305A>G (p.Ala435=)
|
rs1464819058
|
0.00002
|
NM_000748.3(CHRNB2):c.1314G>A (p.Met438Ile)
|
rs200910048
|
0.00002
|
NM_000748.3(CHRNB2):c.211-20G>C
|
rs768075022
|
0.00002
|
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)
|
rs199885651
|
0.00002
|
NM_000748.3(CHRNB2):c.453C>T (p.Tyr151=)
|
rs781506269
|
0.00002
|
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys)
|
rs780175030
|
0.00002
|
NM_000748.3(CHRNB2):c.65-9C>T
|
rs774799731
|
0.00002
|
NM_000748.3(CHRNB2):c.734del (p.Cys245fs)
|
rs780184576
|
0.00002
|
NM_000748.3(CHRNB2):c.891C>T (p.Val297=)
|
rs750455908
|
0.00002
|
NM_000748.3(CHRNB2):c.945C>T (p.Ser315=)
|
rs199549612
|
0.00002
|
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_000742.4(CHRNA2):c.*1096C>G
|
rs886062842
|
0.00001
|
NM_000742.4(CHRNA2):c.*133G>T
|
rs1395465476
|
0.00001
|
NM_000742.4(CHRNA2):c.*1845A>T
|
rs377169301
|
0.00001
|
NM_000742.4(CHRNA2):c.1007T>C (p.Met336Thr)
|
rs754567543
|
0.00001
|
NM_000742.4(CHRNA2):c.100C>G (p.Pro34Ala)
|
rs538453326
|
0.00001
|
NM_000742.4(CHRNA2):c.1014C>T (p.Phe338=)
|
rs780056270
|
0.00001
|
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile)
|
rs1064797343
|
0.00001
|
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val)
|
rs750301958
|
0.00001
|
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile)
|
rs567044128
|
0.00001
|
NM_000742.4(CHRNA2):c.1059C>T (p.His353=)
|
rs748482434
|
0.00001
|
NM_000742.4(CHRNA2):c.106G>T (p.Ala36Ser)
|
rs771977388
|
0.00001
|
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile)
|
rs888935641
|
0.00001
|
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val)
|
rs1313467019
|
0.00001
|
NM_000742.4(CHRNA2):c.1095G>A (p.Trp365Ter)
|
rs753568467
|
0.00001
|
NM_000742.4(CHRNA2):c.1098G>A (p.Val366=)
|
rs767782606
|
0.00001
|
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val)
|
rs765772636
|
0.00001
|
NM_000742.4(CHRNA2):c.1145G>A (p.Arg382Gln)
|
rs888244000
|
0.00001
|
NM_000742.4(CHRNA2):c.1147C>A (p.Pro383Thr)
|
rs757169328
|
0.00001
|
NM_000742.4(CHRNA2):c.1151C>T (p.Pro384Leu)
|
rs777510962
|
0.00001
|
NM_000742.4(CHRNA2):c.1159G>A (p.Val387Met)
|
rs749494357
|
0.00001
|
NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=)
|
rs764346961
|
0.00001
|
NM_000742.4(CHRNA2):c.1180C>T (p.Arg394Cys)
|
rs1060503072
|
0.00001
|
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)
|
rs761054762
|
0.00001
|
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu)
|
rs745670660
|
0.00001
|
NM_000742.4(CHRNA2):c.1200T>G (p.Ser400=)
|
rs150333280
|
0.00001
|
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg)
|
rs749199596
|
0.00001
|
NM_000742.4(CHRNA2):c.1231G>T (p.Glu411Ter)
|
rs1328911807
|
0.00001
|
NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)
|
rs370878600
|
0.00001
|
NM_000742.4(CHRNA2):c.1283A>C (p.His428Pro)
|
rs1464665549
|
0.00001
|
NM_000742.4(CHRNA2):c.12C>T (p.Ser4=)
|
rs1057522016
|
0.00001
|
NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser)
|
rs1405035752
|
0.00001
|
NM_000742.4(CHRNA2):c.1331C>G (p.Ser444Cys)
|
rs772465304
|
0.00001
|
NM_000742.4(CHRNA2):c.1335G>C (p.Gly445=)
|
rs544902151
|
0.00001
|
NM_000742.4(CHRNA2):c.1340C>T (p.Ser447Leu)
|
rs1812554029
|
0.00001
|
NM_000742.4(CHRNA2):c.1365G>T (p.Leu455=)
|
rs756635424
|
0.00001
|
NM_000742.4(CHRNA2):c.1368G>A (p.Gln456=)
|
rs370957296
|
0.00001
|
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser)
|
rs757019076
|
0.00001
|
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala)
|
rs751242542
|
0.00001
|
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp)
|
rs369803320
|
0.00001
|
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe)
|
rs994299183
|
0.00001
|
NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu)
|
rs866092045
|
0.00001
|
NM_000742.4(CHRNA2):c.1464+10G>T
|
rs749942986
|
0.00001
|
NM_000742.4(CHRNA2):c.1464+7_1464+8del
|
rs763426344
|
0.00001
|
NM_000742.4(CHRNA2):c.1468A>G (p.Lys490Glu)
|
rs773515773
|
0.00001
|
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg)
|
rs762003141
|
0.00001
|
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg)
|
rs1012797739
|
0.00001
|
NM_000742.4(CHRNA2):c.1551C>T (p.Ile517=)
|
rs777412930
|
0.00001
|
NM_000742.4(CHRNA2):c.1552G>A (p.Gly518Ser)
|
rs755631456
|
0.00001
|
NM_000742.4(CHRNA2):c.1557C>A (p.Leu519=)
|
rs752689106
|
0.00001
|
NM_000742.4(CHRNA2):c.169G>A (p.Glu57Lys)
|
rs139552324
|
0.00001
|
NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val)
|
rs1473197891
|
0.00001
|
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys)
|
rs201890355
|
0.00001
|
NM_000742.4(CHRNA2):c.223C>T (p.Arg75Cys)
|
rs770949841
|
0.00001
|
NM_000742.4(CHRNA2):c.260G>A (p.Arg87His)
|
rs532212433
|
0.00001
|
NM_000742.4(CHRNA2):c.282G>A (p.Gln94=)
|
rs1812812900
|
0.00001
|
NM_000742.4(CHRNA2):c.294+4C>T
|
rs745958182
|
0.00001
|
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp)
|
rs913563840
|
0.00001
|
NM_000742.4(CHRNA2):c.323A>C (p.Asn108Thr)
|
rs564532686
|
0.00001
|
NM_000742.4(CHRNA2):c.324C>T (p.Asn108=)
|
rs544939077
|
0.00001
|
NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile)
|
rs1341647863
|
0.00001
|
NM_000742.4(CHRNA2):c.333A>G (p.Leu111=)
|
rs770131239
|
0.00001
|
NM_000742.4(CHRNA2):c.339+10C>A
|
rs746630071
|
0.00001
|
NM_000742.4(CHRNA2):c.340-8A>C
|
rs1427091098
|
0.00001
|
NM_000742.4(CHRNA2):c.346A>G (p.Ser116Gly)
|
rs777177252
|
0.00001
|
NM_000742.4(CHRNA2):c.347G>T (p.Ser116Ile)
|
rs541282922
|
0.00001
|
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu)
|
rs752422797
|
0.00001
|
NM_000742.4(CHRNA2):c.381T>C (p.Phe127=)
|
rs1346753064
|
0.00001
|
NM_000742.4(CHRNA2):c.385A>G (p.Asn129Asp)
|
rs1418872943
|
0.00001
|
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser)
|
rs773956983
|
0.00001
|
NM_000742.4(CHRNA2):c.429C>T (p.Pro143=)
|
rs777692776
|
0.00001
|
NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn)
|
rs371067379
|
0.00001
|
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly)
|
rs748032811
|
0.00001
|
NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val)
|
rs1064795580
|
0.00001
|
NM_000742.4(CHRNA2):c.443A>G (p.Tyr148Cys)
|
rs758688566
|
0.00001
|
NM_000742.4(CHRNA2):c.449+3A>T
|
rs750588205
|
0.00001
|
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=)
|
rs535699325
|
0.00001
|
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met)
|
rs766076722
|
0.00001
|
NM_000742.4(CHRNA2):c.526C>T (p.Pro176Ser)
|
rs772750196
|
0.00001
|
NM_000742.4(CHRNA2):c.576C>T (p.Phe192=)
|
rs148009259
|
0.00001
|
NM_000742.4(CHRNA2):c.577G>A (p.Asp193Asn)
|
rs373358886
|
0.00001
|
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met)
|
rs1488678087
|
0.00001
|
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val)
|
rs1064793314
|
0.00001
|
NM_000742.4(CHRNA2):c.606C>T (p.Gly202=)
|
rs1812610117
|
0.00001
|
NM_000742.4(CHRNA2):c.609C>T (p.Ser203=)
|
rs761237311
|
0.00001
|
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn)
|
rs781326114
|
0.00001
|
NM_000742.4(CHRNA2):c.687C>T (p.Gly229=)
|
rs1050947622
|
0.00001
|
NM_000742.4(CHRNA2):c.69A>C (p.Pro23=)
|
rs1242888452
|
0.00001
|
NM_000742.4(CHRNA2):c.700G>A (p.Val234Ile)
|
rs758793756
|
0.00001
|
NM_000742.4(CHRNA2):c.701T>C (p.Val234Ala)
|
rs768590131
|
0.00001
|
NM_000742.4(CHRNA2):c.717C>T (p.Thr239=)
|
rs1484589569
|
0.00001
|
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
|
rs544814869
|
0.00001
|
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn)
|
rs763633128
|
0.00001
|
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=)
|
rs775595773
|
0.00001
|
NM_000742.4(CHRNA2):c.74-17C>A
|
rs796052294
|
0.00001
|
NM_000742.4(CHRNA2):c.752T>C (p.Ile251Thr)
|
rs1255648133
|
0.00001
|
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn)
|
rs1586390822
|
0.00001
|
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr)
|
rs200372256
|
0.00001
|
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp)
|
rs376807512
|
0.00001
|
NM_000742.4(CHRNA2):c.790C>T (p.Leu264=)
|
rs746292157
|
0.00001
|
NM_000742.4(CHRNA2):c.795G>A (p.Pro265=)
|
rs756903177
|
0.00001
|
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met)
|
rs892421066
|
0.00001
|
NM_000742.4(CHRNA2):c.834C>T (p.Leu278=)
|
rs56189058
|
0.00001
|
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val)
|
rs1812595253
|
0.00001
|
NM_000742.4(CHRNA2):c.852G>A (p.Val284=)
|
rs1357751027
|
0.00001
|
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)
|
rs76140563
|
0.00001
|
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys)
|
rs764887214
|
0.00001
|
NM_000742.4(CHRNA2):c.925G>A (p.Val309Ile)
|
rs755014350
|
0.00001
|
NM_000742.4(CHRNA2):c.957G>A (p.Pro319=)
|
rs375239013
|
0.00001
|
NM_000742.4(CHRNA2):c.965C>T (p.Ser322Leu)
|
rs775592017
|
0.00001
|
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser)
|
rs56371471
|
0.00001
|
NM_000742.4(CHRNA2):c.990G>A (p.Glu330=)
|
rs769608818
|
0.00001
|
NM_000744.7(CHRNA4):c.1001C>T (p.Ser334Leu)
|
rs121912262
|
0.00001
|
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)
|
rs281865068
|
0.00001
|
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met)
|
rs201673381
|
0.00001
|
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys)
|
rs1234808455
|
0.00001
|
NM_000744.7(CHRNA4):c.1034G>T (p.Arg345Leu)
|
rs200666489
|
0.00001
|
NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr)
|
rs201052218
|
0.00001
|
NM_000744.7(CHRNA4):c.105C>T (p.His35=)
|
rs199541666
|
0.00001
|
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys)
|
rs758534439
|
0.00001
|
NM_000744.7(CHRNA4):c.1062C>T (p.Arg354=)
|
rs764108665
|
0.00001
|
NM_000744.7(CHRNA4):c.1068C>T (p.Leu356=)
|
rs373335417
|
0.00001
|
NM_000744.7(CHRNA4):c.1077G>C (p.Lys359Asn)
|
rs1292158071
|
0.00001
|
NM_000744.7(CHRNA4):c.1105C>T (p.Arg369Trp)
|
rs201224423
|
0.00001
|
NM_000744.7(CHRNA4):c.1117G>A (p.Glu373Lys)
|
rs1064794565
|
0.00001
|
NM_000744.7(CHRNA4):c.1145C>T (p.Pro382Leu)
|
rs769233762
|
0.00001
|
NM_000744.7(CHRNA4):c.1147C>T (p.Arg383Cys)
|
rs981343766
|
0.00001
|
NM_000744.7(CHRNA4):c.1159G>A (p.Glu387Lys)
|
rs534229205
|
0.00001
|
NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met)
|
rs121912269
|
0.00001
|
NM_000744.7(CHRNA4):c.1196A>G (p.Gln399Arg)
|
rs781131183
|
0.00001
|
NM_000744.7(CHRNA4):c.1208C>T (p.Pro403Leu)
|
rs766143571
|
0.00001
|
NM_000744.7(CHRNA4):c.1212C>T (p.Pro404=)
|
rs764760832
|
0.00001
|
NM_000744.7(CHRNA4):c.1218G>A (p.Pro406=)
|
rs200528988
|
0.00001
|
NM_000744.7(CHRNA4):c.1232C>A (p.Pro411His)
|
rs779035642
|
0.00001
|
NM_000744.7(CHRNA4):c.1249G>A (p.Glu417Lys)
|
rs369269532
|
0.00001
|
NM_000744.7(CHRNA4):c.1252C>T (p.Pro418Ser)
|
rs1412148347
|
0.00001
|
NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr)
|
rs121912273
|
0.00001
|
NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser)
|
rs764808511
|
0.00001
|
NM_000744.7(CHRNA4):c.1277C>T (p.Ser426Phe)
|
rs1064794408
|
0.00001
|
NM_000744.7(CHRNA4):c.1283A>T (p.Gln428Leu)
|
rs560507450
|
0.00001
|
NM_000744.7(CHRNA4):c.1319C>T (p.Ala440Val)
|
rs374914461
|
0.00001
|
NM_000744.7(CHRNA4):c.1335G>A (p.Ser445=)
|
rs1470458445
|
0.00001
|
NM_000744.7(CHRNA4):c.1348C>T (p.Arg450Cys)
|
rs746921204
|
0.00001
|
NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser)
|
rs199914663
|
0.00001
|
NM_000744.7(CHRNA4):c.135C>G (p.Phe45Leu)
|
rs766240756
|
0.00001
|
NM_000744.7(CHRNA4):c.1369G>C (p.Ala457Pro)
|
rs753598324
|
0.00001
|
NM_000744.7(CHRNA4):c.1378C>G (p.Leu460Val)
|
rs1347805541
|
0.00001
|
NM_000744.7(CHRNA4):c.1404C>T (p.Val468=)
|
rs1245158731
|
0.00001
|
NM_000744.7(CHRNA4):c.1420C>T (p.Pro474Ser)
|
rs773450609
|
0.00001
|
NM_000744.7(CHRNA4):c.1426G>A (p.Glu476Lys)
|
rs201420419
|
0.00001
|
NM_000744.7(CHRNA4):c.1432G>T (p.Val478Leu)
|
rs757163324
|
0.00001
|
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp)
|
rs998924085
|
0.00001
|
NM_000744.7(CHRNA4):c.1470G>A (p.Gln490=)
|
rs2068558681
|
0.00001
|
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr)
|
rs150336658
|
0.00001
|
NM_000744.7(CHRNA4):c.1498C>T (p.Pro500Ser)
|
rs770800835
|
0.00001
|
NM_000744.7(CHRNA4):c.1501G>A (p.Glu501Lys)
|
rs146825815
|
0.00001
|
NM_000744.7(CHRNA4):c.150G>A (p.Lys50=)
|
rs985967668
|
0.00001
|
NM_000744.7(CHRNA4):c.1520C>T (p.Ala507Val)
|
rs747883053
|
0.00001
|
NM_000744.7(CHRNA4):c.1526C>T (p.Ala509Val)
|
rs1256537631
|
0.00001
|
NM_000744.7(CHRNA4):c.1527C>T (p.Ala509=)
|
rs758693290
|
0.00001
|
NM_000744.7(CHRNA4):c.1532C>T (p.Ala511Val)
|
rs368476334
|
0.00001
|
NM_000744.7(CHRNA4):c.1576C>T (p.Pro526Ser)
|
rs1064795533
|
0.00001
|
NM_000744.7(CHRNA4):c.1585T>C (p.Cys529Arg)
|
rs112515579
|
0.00001
|
NM_000744.7(CHRNA4):c.158G>A (p.Arg53Gln)
|
rs1286318558
|
0.00001
|
NM_000744.7(CHRNA4):c.15C>G (p.Gly5=)
|
rs1208135470
|
0.00001
|
NM_000744.7(CHRNA4):c.1626G>A (p.Pro542=)
|
rs764393796
|
0.00001
|
NM_000744.7(CHRNA4):c.1630G>A (p.Ala544Thr)
|
rs540705031
|
0.00001
|
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)
|
rs121912282
|
0.00001
|
NM_000744.7(CHRNA4):c.163G>A (p.Val55Met)
|
rs1349610263
|
0.00001
|
NM_000744.7(CHRNA4):c.1646G>A (p.Arg549His)
|
rs768292011
|
0.00001
|
NM_000744.7(CHRNA4):c.1652C>T (p.Thr551Ile)
|
rs79438238
|
0.00001
|
NM_000744.7(CHRNA4):c.1658C>T (p.Ala553Val)
|
rs762808071
|
0.00001
|
NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro)
|
rs1282336623
|
0.00001
|
NM_000744.7(CHRNA4):c.1677C>T (p.Pro559=)
|
rs767662388
|
0.00001
|
NM_000744.7(CHRNA4):c.1683G>A (p.Ser561=)
|
rs750265666
|
0.00001
|
NM_000744.7(CHRNA4):c.1686G>T (p.Pro562=)
|
rs78050042
|
0.00001
|
NM_000744.7(CHRNA4):c.1696C>T (p.Arg566Trp)
|
rs201674914
|
0.00001
|
NM_000744.7(CHRNA4):c.16C>T (p.Pro6Ser)
|
rs796052312
|
0.00001
|
NM_000744.7(CHRNA4):c.1701G>A (p.Ala567=)
|
rs1373364724
|
0.00001
|
NM_000744.7(CHRNA4):c.1720A>G (p.Ile574Val)
|
rs748328796
|
0.00001
|
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr)
|
rs139657121
|
0.00001
|
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys)
|
rs752289948
|
0.00001
|
NM_000744.7(CHRNA4):c.1759-15C>T
|
rs751163361
|
0.00001
|
NM_000744.7(CHRNA4):c.1765G>A (p.Glu589Lys)
|
rs749939383
|
0.00001
|
NM_000744.7(CHRNA4):c.176C>T (p.Ser59Leu)
|
rs775143571
|
0.00001
|
NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met)
|
rs370887602
|
0.00001
|
NM_000744.7(CHRNA4):c.1786A>G (p.Met596Val)
|
rs200698041
|
0.00001
|
NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His)
|
rs752686095
|
0.00001
|
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu)
|
rs1238575890
|
0.00001
|
NM_000744.7(CHRNA4):c.1842G>A (p.Thr614=)
|
rs727503871
|
0.00001
|
NM_000744.7(CHRNA4):c.1859C>T (p.Pro620Leu)
|
rs754340834
|
0.00001
|
NM_000744.7(CHRNA4):c.1860G>A (p.Pro620=)
|
rs202203317
|
0.00001
|
NM_000744.7(CHRNA4):c.190G>A (p.Val64Ile)
|
rs756367182
|
0.00001
|
NM_000744.7(CHRNA4):c.199G>A (p.Gly67Ser)
|
rs750325388
|
0.00001
|
NM_000744.7(CHRNA4):c.211G>A (p.Ala71Thr)
|
rs200527878
|
0.00001
|
NM_000744.7(CHRNA4):c.212C>T (p.Ala71Val)
|
rs753677594
|
0.00001
|
NM_000744.7(CHRNA4):c.226G>A (p.Val76Met)
|
rs201115841
|
0.00001
|
NM_000744.7(CHRNA4):c.228+12C>T
|
rs1013043290
|
0.00001
|
NM_000744.7(CHRNA4):c.228+6T>C
|
rs367917715
|
0.00001
|
NM_000744.7(CHRNA4):c.229-11C>T
|
rs200631855
|
0.00001
|
NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn)
|
rs1204737071
|
0.00001
|
NM_000744.7(CHRNA4):c.274-1G>A
|
rs1331861720
|
0.00001
|
NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)
|
rs202042826
|
0.00001
|
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)
|
rs768527293
|
0.00001
|
NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)
|
rs1360629320
|
0.00001
|
NM_000744.7(CHRNA4):c.372C>T (p.Val124=)
|
rs201386851
|
0.00001
|
NM_000744.7(CHRNA4):c.383+1G>A
|
rs139129197
|
0.00001
|
NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg)
|
rs796052313
|
0.00001
|
NM_000744.7(CHRNA4):c.399C>T (p.Phe133=)
|
rs766218638
|
0.00001
|
NM_000744.7(CHRNA4):c.400G>A (p.Ala134Thr)
|
rs796052321
|
0.00001
|
NM_000744.7(CHRNA4):c.412C>T (p.Leu138=)
|
rs372063405
|
0.00001
|
NM_000744.7(CHRNA4):c.425A>G (p.His142Arg)
|
rs200550248
|
0.00001
|
NM_000744.7(CHRNA4):c.493G>A (p.Val165Ile)
|
rs762764855
|
0.00001
|
NM_000744.7(CHRNA4):c.502T>C (p.Phe168Leu)
|
rs1488210391
|
0.00001
|
NM_000744.7(CHRNA4):c.558G>A (p.Lys186=)
|
rs572569890
|
0.00001
|
NM_000744.7(CHRNA4):c.567C>T (p.Ile189=)
|
rs758128052
|
0.00001
|
NM_000744.7(CHRNA4):c.570C>T (p.Asp190=)
|
rs554282916
|
0.00001
|
NM_000744.7(CHRNA4):c.606C>G (p.Asp202Glu)
|
rs1048677024
|
0.00001
|
NM_000744.7(CHRNA4):c.621C>T (p.Gly207=)
|
rs149407396
|
0.00001
|
NM_000744.7(CHRNA4):c.649A>G (p.Thr217Ala)
|
rs757045864
|
0.00001
|
NM_000744.7(CHRNA4):c.657C>T (p.Asn219=)
|
rs763863668
|
0.00001
|
NM_000744.7(CHRNA4):c.663G>C (p.Arg221Ser)
|
rs1174421657
|
0.00001
|
NM_000744.7(CHRNA4):c.673T>G (p.Cys225Gly)
|
rs1263987235
|
0.00001
|
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met)
|
rs200063611
|
0.00001
|
NM_000744.7(CHRNA4):c.697A>G (p.Ile233Val)
|
rs1362651443
|
0.00001
|
NM_000744.7(CHRNA4):c.718C>T (p.Arg240Trp)
|
rs757030850
|
0.00001
|
NM_000744.7(CHRNA4):c.758C>T (p.Pro253Leu)
|
rs747083728
|
0.00001
|
NM_000744.7(CHRNA4):c.76+19G>A
|
rs1432252194
|
0.00001
|
NM_000744.7(CHRNA4):c.77-10C>T
|
rs200490160
|
0.00001
|
NM_000744.7(CHRNA4):c.778C>A (p.Leu260Ile)
|
rs770780958
|
0.00001
|
NM_000744.7(CHRNA4):c.783C>T (p.Thr261=)
|
rs199650427
|
0.00001
|
NM_000744.7(CHRNA4):c.784G>A (p.Val262Met)
|
rs150082508
|
0.00001
|
NM_000744.7(CHRNA4):c.787C>T (p.Leu263=)
|
rs76830527
|
0.00001
|
NM_000744.7(CHRNA4):c.827C>T (p.Thr276Met)
|
rs796052323
|
0.00001
|
NM_000744.7(CHRNA4):c.840C>T (p.Ser280=)
|
rs776867107
|
0.00001
|
NM_000744.7(CHRNA4):c.841G>A (p.Val281Met)
|
rs764238999
|
0.00001
|
NM_000744.7(CHRNA4):c.859G>A (p.Val287Ile)
|
rs772253190
|
0.00001
|
NM_000744.7(CHRNA4):c.865C>T (p.Leu289=)
|
rs201980705
|
0.00001
|
NM_000744.7(CHRNA4):c.868C>T (p.Leu290=)
|
rs762952445
|
0.00001
|
NM_000744.7(CHRNA4):c.880G>A (p.Glu294Lys)
|
rs201654194
|
0.00001
|
NM_000744.7(CHRNA4):c.88G>A (p.Val30Met)
|
rs746557446
|
0.00001
|
NM_000744.7(CHRNA4):c.900A>G (p.Ser300=)
|
rs878854143
|
0.00001
|
NM_000744.7(CHRNA4):c.915C>T (p.Leu305=)
|
rs121912258
|
0.00001
|
NM_000744.7(CHRNA4):c.921C>T (p.Gly307=)
|
rs543676432
|
0.00001
|
NM_000744.7(CHRNA4):c.940A>G (p.Met314Val)
|
rs773225799
|
0.00001
|
NM_000744.7(CHRNA4):c.967A>G (p.Ile323Val)
|
rs200985465
|
0.00001
|
NM_000744.7(CHRNA4):c.972G>A (p.Thr324=)
|
rs561214079
|
0.00001
|
NM_000744.7(CHRNA4):c.985A>G (p.Asn329Asp)
|
rs767865433
|
0.00001
|
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser)
|
rs201046441
|
0.00001
|
NM_000744.7(CHRNA4):c.987C>T (p.Asn329=)
|
rs572366184
|
0.00001
|
NM_000744.7(CHRNA4):c.988G>A (p.Val330Met)
|
rs951238893
|
0.00001
|
NM_000744.7(CHRNA4):c.997C>T (p.Arg333Cys)
|
rs761631713
|
0.00001
|
NM_000744.7(CHRNA4):c.998G>A (p.Arg333His)
|
rs1170843579
|
0.00001
|
NM_000748.3(CHRNB2):c.1032C>T (p.Pro344=)
|
rs374720331
|
0.00001
|
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His)
|
rs368787419
|
0.00001
|
NM_000748.3(CHRNB2):c.1041C>T (p.Leu347=)
|
rs372224633
|
0.00001
|
NM_000748.3(CHRNB2):c.1050G>A (p.Gln350=)
|
rs747589095
|
0.00001
|
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His)
|
rs200924076
|
0.00001
|
NM_000748.3(CHRNB2):c.1068C>T (p.Cys356=)
|
rs762237464
|
0.00001
|
NM_000748.3(CHRNB2):c.1082T>C (p.Leu361Pro)
|
rs1226774233
|
0.00001
|
NM_000748.3(CHRNB2):c.1087C>T (p.Leu363=)
|
rs201040879
|
0.00001
|
NM_000748.3(CHRNB2):c.1110C>G (p.Arg370=)
|
rs763983504
|
0.00001
|
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp)
|
rs757023317
|
0.00001
|
NM_000748.3(CHRNB2):c.1116C>T (p.Gly372=)
|
rs1402931071
|
0.00001
|
NM_000748.3(CHRNB2):c.1119T>C (p.Ala373=)
|
rs1358610972
|
0.00001
|
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe)
|
rs1286192889
|
0.00001
|
NM_000748.3(CHRNB2):c.1136G>C (p.Arg379Pro)
|
rs1440128191
|
0.00001
|
NM_000748.3(CHRNB2):c.1152C>T (p.Ala384=)
|
rs746495548
|
0.00001
|
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn)
|
rs932622161
|
0.00001
|
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter)
|
rs1409415937
|
0.00001
|
NM_000748.3(CHRNB2):c.1167C>T (p.Cys389=)
|
rs1274247405
|
0.00001
|
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp)
|
rs1020953003
|
0.00001
|
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg)
|
rs902984484
|
0.00001
|
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr)
|
rs199658508
|
0.00001
|
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val)
|
rs1166872057
|
0.00001
|
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro)
|
rs1225745274
|
0.00001
|
NM_000748.3(CHRNB2):c.1239C>T (p.Pro413=)
|
rs372757638
|
0.00001
|
NM_000748.3(CHRNB2):c.1250G>A (p.Gly417Glu)
|
rs1191094208
|
0.00001
|
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly)
|
rs1475853887
|
0.00001
|
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=)
|
rs199743038
|
0.00001
|
NM_000748.3(CHRNB2):c.1281G>A (p.Ala427=)
|
rs1326707359
|
0.00001
|
NM_000748.3(CHRNB2):c.1287C>T (p.Asp429=)
|
rs1057524461
|
0.00001
|
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu)
|
rs1064796396
|
0.00001
|
NM_000748.3(CHRNB2):c.1295G>C (p.Arg432Pro)
|
rs747248135
|
0.00001
|
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=)
|
rs1057524421
|
0.00001
|
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val)
|
rs916448473
|
0.00001
|
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn)
|
rs1187024375
|
0.00001
|
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg)
|
rs1049048240
|
0.00001
|
NM_000748.3(CHRNB2):c.1329T>C (p.Asp443=)
|
rs1451511201
|
0.00001
|
NM_000748.3(CHRNB2):c.1338+3G>T
|
rs886348487
|
0.00001
|
NM_000748.3(CHRNB2):c.1338C>T (p.Ser446=)
|
rs201462348
|
0.00001
|
NM_000748.3(CHRNB2):c.1339-7C>T
|
rs1350349505
|
0.00001
|
NM_000748.3(CHRNB2):c.1360G>A (p.Val454Ile)
|
rs765202298
|
0.00001
|
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn)
|
rs140505576
|
0.00001
|
NM_000748.3(CHRNB2):c.1380C>T (p.Arg460=)
|
rs373985042
|
0.00001
|
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe)
|
rs1206411079
|
0.00001
|
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His)
|
rs769249583
|
0.00001
|
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser)
|
rs200855905
|
0.00001
|
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu)
|
rs202135710
|
0.00001
|
NM_000748.3(CHRNB2):c.1425C>T (p.Ile475=)
|
rs773226966
|
0.00001
|
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala)
|
rs1420884732
|
0.00001
|
NM_000748.3(CHRNB2):c.1461C>T (p.Thr487=)
|
rs1696263685
|
0.00001
|
NM_000748.3(CHRNB2):c.1476C>T (p.Leu492=)
|
rs1167152631
|
0.00001
|
NM_000748.3(CHRNB2):c.1497C>T (p.Pro499=)
|
rs768798015
|
0.00001
|
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile)
|
rs762363770
|
0.00001
|
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile)
|
rs1483069937
|
0.00001
|
NM_000748.3(CHRNB2):c.210+15C>T
|
rs1246189959
|
0.00001
|
NM_000748.3(CHRNB2):c.213T>G (p.His71Gln)
|
rs763194096
|
0.00001
|
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp)
|
rs771286419
|
0.00001
|
NM_000748.3(CHRNB2):c.22G>T (p.Val8Leu)
|
rs772815972
|
0.00001
|
NM_000748.3(CHRNB2):c.255+15T>G
|
rs374367624
|
0.00001
|
NM_000748.3(CHRNB2):c.255+6C>T
|
rs754415116
|
0.00001
|
NM_000748.3(CHRNB2):c.270T>C (p.Tyr90=)
|
rs751365875
|
0.00001
|
NM_000748.3(CHRNB2):c.271C>T (p.Arg91Cys)
|
rs754725293
|
0.00001
|
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser)
|
rs752355994
|
0.00001
|
NM_000748.3(CHRNB2):c.294G>A (p.Glu98=)
|
rs367899705
|
0.00001
|
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
|
rs779199533
|
0.00001
|
NM_000748.3(CHRNB2):c.342C>T (p.Leu114=)
|
rs1250849813
|
0.00001
|
NM_000748.3(CHRNB2):c.366-13C>G
|
rs768920657
|
0.00001
|
NM_000748.3(CHRNB2):c.366-17T>C
|
rs747237652
|
0.00001
|
NM_000748.3(CHRNB2):c.366-3C>T
|
rs1382302930
|
0.00001
|
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser)
|
rs922186544
|
0.00001
|
NM_000748.3(CHRNB2):c.405C>T (p.Ala135=)
|
rs777250519
|
0.00001
|
NM_000748.3(CHRNB2):c.406G>A (p.Val136Met)
|
rs763776515
|
0.00001
|
NM_000748.3(CHRNB2):c.429C>T (p.Ile143=)
|
rs369264665
|
0.00001
|
NM_000748.3(CHRNB2):c.459C>T (p.Ser153=)
|
rs538508561
|
0.00001
|
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg)
|
rs1330894666
|
0.00001
|
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His)
|
rs768297928
|
0.00001
|
NM_000748.3(CHRNB2):c.546G>T (p.Glu182Asp)
|
rs199696100
|
0.00001
|
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys)
|
rs1260932072
|
0.00001
|
NM_000748.3(CHRNB2):c.615C>T (p.Ile205=)
|
rs202243284
|
0.00001
|
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val)
|
rs201622476
|
0.00001
|
NM_000748.3(CHRNB2):c.627G>A (p.Pro209=)
|
rs752968150
|
0.00001
|
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys)
|
rs572595325
|
0.00001
|
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=)
|
rs772174020
|
0.00001
|
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser)
|
rs200796605
|
0.00001
|
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=)
|
rs370886747
|
0.00001
|
NM_000748.3(CHRNB2):c.651C>T (p.Asp217=)
|
rs1425961412
|
0.00001
|
NM_000748.3(CHRNB2):c.658A>C (p.Thr220Pro)
|
rs374183227
|
0.00001
|
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met)
|
rs796052326
|
0.00001
|
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=)
|
rs1557851605
|
0.00001
|
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys)
|
rs752986234
|
0.00001
|
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys)
|
rs756406057
|
0.00001
|
NM_000748.3(CHRNB2):c.729C>T (p.Ile243=)
|
rs1696165036
|
0.00001
|
NM_000748.3(CHRNB2):c.75T>C (p.Gly25=)
|
rs764498388
|
0.00001
|
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=)
|
rs201514209
|
0.00001
|
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp)
|
rs373676452
|
0.00001
|
NM_000748.3(CHRNB2):c.794A>T (p.Lys265Met)
|
rs1696166155
|
0.00001
|
NM_000748.3(CHRNB2):c.797T>C (p.Met266Thr)
|
rs113672425
|
0.00001
|
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys)
|
rs199919525
|
0.00001
|
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser)
|
rs754992449
|
0.00001
|
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala)
|
rs780962241
|
0.00001
|
NM_000748.3(CHRNB2):c.92G>A (p.Arg31Gln)
|
rs758492974
|
0.00001
|
NM_000748.3(CHRNB2):c.960C>T (p.Asn320=)
|
rs1434865319
|
0.00001
|
NM_000748.3(CHRNB2):c.966C>T (p.His322=)
|
rs1411254585
|
0.00001
|
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg)
|
rs201004255
|
0.00001
|
NM_000748.3(CHRNB2):c.990C>T (p.Thr330=)
|
rs201825924
|
0.00001
|
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val)
|
rs1207496178
|
0.00001
|
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
|
NM_198904.4(GABRG2):c.631+1254C>T
|
rs886645578
|
0.00001
|
NC_000008.10:g.(?_27319126)_(27328595_?)dup
|
|
|
NC_000008.10:g.(?_27319146)_(28608383_?)dup
|
|
|
NC_000008.10:g.(?_27326832)_(27328595_?)del
|
|
|
NC_000008.11:g.(?_27469335)_(27471194_?)del
|
|
|
NC_000009.11:g.(?_135139626)_(140034216_?)dup
|
|
|
NC_000009.11:g.(?_138392557)_(141016451_?)del
|
|
|
NC_000009.11:g.(?_138585443)_(138606586_?)dup
|
|
|
NC_000009.11:g.(?_138594085)_(138606586_?)dup
|
|
|
NC_000009.11:g.(?_138594085)_(139440258_?)dup
|
|
|
NC_000009.11:g.(?_138594085)_(140062314_?)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.(?_138645763)_(140729425_?)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
|
|
|
NC_000020.10:g.(?_61448417)_(62124660_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62044954_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62046499_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62065276_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62159505_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62159505_?)dup
|
|
|
NC_000020.10:g.(?_61977556)_(62562941_?)dup
|
|
|
NC_000020.10:g.(?_61987307)_(61992517_?)del
|
|
|
NC_000020.10:g.(?_61987307)_(61992517_?)dup
|
|
|
NC_000020.10:g.(?_61987307)_(61993206_?)del
|
|
|
NC_000020.10:g.(?_61987717)_(62038734_?)del
|
|
|
NC_000020.10:g.(?_61990880)_(62078210_?)dup
|
|
|
NC_000020.10:g.(?_61992422)_(62038748_?)del
|
|
|
NC_000020.11:g.(?_63346204)_(63361854_?)dup
|
|
|
NC_000020.11:g.(?_63355955)_(63356104_?)del
|
|
|
NM_000742.4(CHRNA2):c.*1090C>T
|
rs906182736
|
|
NM_000742.4(CHRNA2):c.*1395C>A
|
rs886062841
|
|
NM_000742.4(CHRNA2):c.*1667G>A
|
rs577078556
|
|
NM_000742.4(CHRNA2):c.*1688G>C
|
rs996594019
|
|
NM_000742.4(CHRNA2):c.*1707C>G
|
rs533752912
|
|
NM_000742.4(CHRNA2):c.*1707C>T
|
rs533752912
|
|
NM_000742.4(CHRNA2):c.*1769C>G
|
rs1451704235
|
|
NM_000742.4(CHRNA2):c.*196G>T
|
rs1267504386
|
|
NM_000742.4(CHRNA2):c.*348C>T
|
rs930285465
|
|
NM_000742.4(CHRNA2):c.*479G>C
|
rs574004327
|
|
NM_000742.4(CHRNA2):c.*662T>C
|
rs1812461161
|
|
NM_000742.4(CHRNA2):c.*892T>A
|
rs886062843
|
|
NM_000742.4(CHRNA2):c.-133C>T
|
rs886062846
|
|
NM_000742.4(CHRNA2):c.-312G>T
|
rs886062849
|
|
NM_000742.4(CHRNA2):c.-448G>A
|
rs78426134
|
|
NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu)
|
rs1812582220
|
|
NM_000742.4(CHRNA2):c.1018A>T (p.Thr340Ser)
|
rs1586390027
|
|
NM_000742.4(CHRNA2):c.1020C>T (p.Thr340=)
|
rs2132652084
|
|
NM_000742.4(CHRNA2):c.1029C>A (p.Ile343=)
|
|
|
NM_000742.4(CHRNA2):c.1029C>T (p.Ile343=)
|
|
|
NM_000742.4(CHRNA2):c.1037C>T (p.Thr346Ile)
|
|
|
NM_000742.4(CHRNA2):c.1038C>T (p.Thr346=)
|
rs1202844498
|
|
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile)
|
rs1057524196
|
|
NM_000742.4(CHRNA2):c.1045G>A (p.Val349Met)
|
rs774279507
|
|
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu)
|
rs774279507
|
|
NM_000742.4(CHRNA2):c.1050C>T (p.Leu350=)
|
|
|
NM_000742.4(CHRNA2):c.1052A>C (p.Asn351Thr)
|
rs770305730
|
|
NM_000742.4(CHRNA2):c.105G>A (p.Arg35=)
|
rs1812824307
|
|
NM_000742.4(CHRNA2):c.1063C>G (p.Arg355Gly)
|
rs56339365
|
|
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys)
|
rs56339365
|
|
NM_000742.4(CHRNA2):c.1068C>A (p.Ser356=)
|
rs745774113
|
|
NM_000742.4(CHRNA2):c.106del (p.Ala36fs)
|
|
|
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu)
|
rs1586389806
|
|
NM_000742.4(CHRNA2):c.1082C>T (p.Thr361Ile)
|
|
|
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu)
|
rs796052301
|
|
NM_000742.4(CHRNA2):c.1093T>C (p.Trp365Arg)
|
|
|
NM_000742.4(CHRNA2):c.1094G>A (p.Trp365Ter)
|
rs2132651723
|
|
NM_000742.4(CHRNA2):c.1104G>A (p.Gly368=)
|
rs2132651658
|
|
NM_000742.4(CHRNA2):c.1105G>A (p.Ala369Thr)
|
|
|
NM_000742.4(CHRNA2):c.1105del (p.Ala369fs)
|
rs757376257
|
|
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs)
|
rs757376257
|
|
NM_000742.4(CHRNA2):c.1122G>T (p.Val374=)
|
|
|
NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu)
|
rs1812571543
|
|
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)
|
rs1018084204
|
|
NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)
|
|
|
NM_000742.4(CHRNA2):c.1138_1145dup (p.Arg382_Pro383insTer)
|
|
|
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu)
|
rs796052302
|
|
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs)
|
rs1812569409
|
|
NM_000742.4(CHRNA2):c.1155A>G (p.Pro385=)
|
|
|
NM_000742.4(CHRNA2):c.1156C>T (p.Pro386Ser)
|
rs2132651430
|
|
NM_000742.4(CHRNA2):c.1161G>T (p.Val387=)
|
|
|
NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly)
|
rs886062844
|
|
NM_000742.4(CHRNA2):c.1164G>A (p.Glu388=)
|
rs1175481996
|
|
NM_000742.4(CHRNA2):c.116A>G (p.Asp39Gly)
|
rs1812823861
|
|
NM_000742.4(CHRNA2):c.1173C>A (p.His391Gln)
|
rs183676062
|
|
NM_000742.4(CHRNA2):c.1174C>G (p.Pro392Ala)
|
rs762406891
|
|
NM_000742.4(CHRNA2):c.1174C>T (p.Pro392Ser)
|
rs762406891
|
|
NM_000742.4(CHRNA2):c.1175C>G (p.Pro392Arg)
|
|
|
NM_000742.4(CHRNA2):c.1178T>C (p.Leu393Pro)
|
rs2132651312
|
|
NM_000742.4(CHRNA2):c.1188G>A (p.Lys396=)
|
rs1812566372
|
|
NM_000742.4(CHRNA2):c.1194C>T (p.Ser398=)
|
rs1586389358
|
|
NM_000742.4(CHRNA2):c.1206C>T (p.His402=)
|
rs2132651160
|
|
NM_000742.4(CHRNA2):c.1217G>C (p.Ser406Thr)
|
|
|
NM_000742.4(CHRNA2):c.121del (p.Leu41fs)
|
rs796052310
|
|
NM_000742.4(CHRNA2):c.1221C>T (p.Asn407=)
|
|
|
NM_000742.4(CHRNA2):c.1222G>A (p.Val408Met)
|
rs771994243
|
|
NM_000742.4(CHRNA2):c.1229C>T (p.Ala410Val)
|
|
|
NM_000742.4(CHRNA2):c.122T>C (p.Leu41Pro)
|
rs1812823370
|
|
NM_000742.4(CHRNA2):c.1230C>T (p.Ala410=)
|
|
|
NM_000742.4(CHRNA2):c.1239G>A (p.Arg413=)
|
|
|
NM_000742.4(CHRNA2):c.1240G>A (p.Glu414Lys)
|
rs968676056
|
|
NM_000742.4(CHRNA2):c.1240del (p.Glu414fs)
|
rs1360369489
|
|
NM_000742.4(CHRNA2):c.1243G>A (p.Val415Met)
|
|
|
NM_000742.4(CHRNA2):c.1245G>C (p.Val415=)
|
rs373599393
|
|
NM_000742.4(CHRNA2):c.1248G>A (p.Val416=)
|
|
|
NM_000742.4(CHRNA2):c.1255G>A (p.Glu419Lys)
|
rs1812560444
|
|
NM_000742.4(CHRNA2):c.1257G>A (p.Glu419=)
|
rs2132650965
|
|
NM_000742.4(CHRNA2):c.1259del (p.Glu420fs)
|
|
|
NM_000742.4(CHRNA2):c.1260G>A (p.Glu420=)
|
rs1057522280
|
|
NM_000742.4(CHRNA2):c.1260_1261delinsAC (p.Asp421His)
|
|
|
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly)
|
rs1064795452
|
|
NM_000742.4(CHRNA2):c.1263C>T (p.Asp421=)
|
rs2132650909
|
|
NM_000742.4(CHRNA2):c.1266A>T (p.Arg422Ser)
|
rs2132650884
|
|
NM_000742.4(CHRNA2):c.1267T>C (p.Trp423Arg)
|
|
|
NM_000742.4(CHRNA2):c.1273T>A (p.Cys425Ser)
|
|
|
NM_000742.4(CHRNA2):c.1273T>C (p.Cys425Arg)
|
rs1179640861
|
|
NM_000742.4(CHRNA2):c.1275T>G (p.Cys425Trp)
|
|
|
NM_000742.4(CHRNA2):c.1277C>T (p.Ala426Val)
|
rs138721954
|
|
NM_000742.4(CHRNA2):c.1292C>T (p.Pro431Leu)
|
|
|
NM_000742.4(CHRNA2):c.1301G>A (p.Gly434Asp)
|
|
|
NM_000742.4(CHRNA2):c.1303A>G (p.Thr435Ala)
|
|
|
NM_000742.4(CHRNA2):c.1304C>T (p.Thr435Ile)
|
rs1372280583
|
|
NM_000742.4(CHRNA2):c.1306C>T (p.Leu436Phe)
|
|
|
NM_000742.4(CHRNA2):c.1318G>C (p.Gly440Arg)
|
|
|
NM_000742.4(CHRNA2):c.131C>G (p.Pro44Arg)
|
|
|
NM_000742.4(CHRNA2):c.132C>A (p.Pro44=)
|
rs1397983639
|
|
NM_000742.4(CHRNA2):c.1330T>C (p.Ser444Pro)
|
rs2132650571
|
|
NM_000742.4(CHRNA2):c.1332T>A (p.Ser444=)
|
|
|
NM_000742.4(CHRNA2):c.1345C>T (p.Pro449Ser)
|
|
|
NM_000742.4(CHRNA2):c.1346C>G (p.Pro449Arg)
|
|
|
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)
|
rs778197366
|
|
NM_000742.4(CHRNA2):c.1364T>C (p.Leu455Pro)
|
rs1812553075
|
|
NM_000742.4(CHRNA2):c.1365G>A (p.Leu455=)
|
rs756635424
|
|
NM_000742.4(CHRNA2):c.1366C>G (p.Gln456Glu)
|
|
|
NM_000742.4(CHRNA2):c.1374T>G (p.Gly458=)
|
rs976672656
|
|
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met)
|
rs765948265
|
|
NM_000742.4(CHRNA2):c.1378C>G (p.Leu460Val)
|
rs765948265
|
|
NM_000742.4(CHRNA2):c.1378C>T (p.Leu460=)
|
rs765948265
|
|
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu)
|
rs748345482
|
|
NM_000742.4(CHRNA2):c.1385T>C (p.Leu462Pro)
|
rs377612702
|
|
NM_000742.4(CHRNA2):c.1393C>G (p.His465Asp)
|
rs772765800
|
|
NM_000742.4(CHRNA2):c.1393del (p.His465fs)
|
rs1394301488
|
|
NM_000742.4(CHRNA2):c.1401G>A (p.Gln467=)
|
rs765154757
|
|
NM_000742.4(CHRNA2):c.1410G>A (p.Leu470=)
|
rs1586388697
|
|
NM_000742.4(CHRNA2):c.1412A>G (p.Glu471Gly)
|
rs963988264
|
|
NM_000742.4(CHRNA2):c.1415G>A (p.Gly472Asp)
|
rs1165713402
|
|
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu)
|
rs796052304
|
|
NM_000742.4(CHRNA2):c.1426A>G (p.Ile476Val)
|
rs796052304
|
|
NM_000742.4(CHRNA2):c.1441C>A (p.Arg481=)
|
|
|
NM_000742.4(CHRNA2):c.1447G>A (p.Glu483Lys)
|
rs755338508
|
|
NM_000742.4(CHRNA2):c.1460C>G (p.Ser487Cys)
|
|
|
NM_000742.4(CHRNA2):c.1464+12T>C
|
|
|
NM_000742.4(CHRNA2):c.1464+4C>T
|
rs1586388485
|
|
NM_000742.4(CHRNA2):c.1464+5G>T
|
rs758065946
|
|
NM_000742.4(CHRNA2):c.1464+7T>G
|
|
|
NM_000742.4(CHRNA2):c.1465-1G>A
|
rs1812498557
|
|
NM_000742.4(CHRNA2):c.1465-21_1465-20inv
|
|
|
NM_000742.4(CHRNA2):c.1465-6C>A
|
|
|
NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu)
|
|
|
NM_000742.4(CHRNA2):c.1468_1470del (p.Lys490del)
|
|
|
NM_000742.4(CHRNA2):c.1473G>A (p.Glu491=)
|
rs1270908053
|
|
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter)
|
rs374449470
|
|
NM_000742.4(CHRNA2):c.1482G>A (p.Lys494=)
|
|
|
NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del)
|
rs760166123
|
|
NM_000742.4(CHRNA2):c.149C>G (p.Pro50Arg)
|
rs146763552
|
|
NM_000742.4(CHRNA2):c.149C>T (p.Pro50Leu)
|
rs146763552
|
|
NM_000742.4(CHRNA2):c.1501G>A (p.Asp501Asn)
|
rs759930402
|
|
NM_000742.4(CHRNA2):c.150G>A (p.Pro50=)
|
rs758848783
|
|
NM_000742.4(CHRNA2):c.150G>T (p.Pro50=)
|
rs758848783
|
|
NM_000742.4(CHRNA2):c.1515C>T (p.Leu505=)
|
rs2132646413
|
|
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu)
|
rs796052306
|
|
NM_000742.4(CHRNA2):c.1533C>G (p.Val511=)
|
|
|
NM_000742.4(CHRNA2):c.1534T>C (p.Cys512Arg)
|
|
|
NM_000742.4(CHRNA2):c.1535G>T (p.Cys512Phe)
|
|
|
NM_000742.4(CHRNA2):c.1539C>T (p.Phe513=)
|
|
|
NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln)
|
rs1812493442
|
|
NM_000742.4(CHRNA2):c.1541T>C (p.Leu514Pro)
|
rs1812493442
|
|
NM_000742.4(CHRNA2):c.1544G>A (p.Gly515Glu)
|
rs1563315936
|
|
NM_000742.4(CHRNA2):c.154G>A (p.Gly52Arg)
|
|
|
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe)
|
rs1586386548
|
|
NM_000742.4(CHRNA2):c.1563_1564delinsCT (p.Pro522Ser)
|
rs2132646191
|
|
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln)
|
rs145238683
|
|
NM_000742.4(CHRNA2):c.1568C>G (p.Pro523Arg)
|
|
|
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu)
|
rs145238683
|
|
NM_000742.4(CHRNA2):c.1583T>C (p.Met528Thr)
|
rs1812490479
|
|
NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter)
|
|
|
NM_000742.4(CHRNA2):c.15T>C (p.Cys5=)
|
|
|
NM_000742.4(CHRNA2):c.164A>G (p.His55Arg)
|
rs1812820756
|
|
NM_000742.4(CHRNA2):c.16C>T (p.Pro6Ser)
|
|
|
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
|
|
|
NM_000742.4(CHRNA2):c.178G>T (p.Asp60Tyr)
|
rs759538013
|
|
NM_000742.4(CHRNA2):c.181C>T (p.Arg61Trp)
|
|
|
NM_000742.4(CHRNA2):c.182G>C (p.Arg61Pro)
|
|
|
NM_000742.4(CHRNA2):c.184C>T (p.Leu62Phe)
|
rs903870658
|
|
NM_000742.4(CHRNA2):c.193C>A (p.His65Asn)
|
rs200035862
|
|
NM_000742.4(CHRNA2):c.195C>G (p.His65Gln)
|
|
|
NM_000742.4(CHRNA2):c.197T>C (p.Leu66Pro)
|
|
|
NM_000742.4(CHRNA2):c.198C>T (p.Leu66=)
|
rs1812818583
|
|
NM_000742.4(CHRNA2):c.203G>A (p.Arg68Gln)
|
rs548268816
|
|
NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro)
|
rs548268816
|
|
NM_000742.4(CHRNA2):c.203G>T (p.Arg68Leu)
|
rs548268816
|
|
NM_000742.4(CHRNA2):c.209A>G (p.Tyr70Cys)
|
rs1812818035
|
|
NM_000742.4(CHRNA2):c.213C>T (p.Asn71=)
|
|
|
NM_000742.4(CHRNA2):c.214C>A (p.Arg72Ser)
|
|
|
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His)
|
rs201922955
|
|
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro)
|
rs201922955
|
|
NM_000742.4(CHRNA2):c.216C>T (p.Arg72=)
|
|
|
NM_000742.4(CHRNA2):c.220G>A (p.Ala74Thr)
|
|
|
NM_000742.4(CHRNA2):c.221C>A (p.Ala74Glu)
|
|
|
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val)
|
rs759595350
|
|
NM_000742.4(CHRNA2):c.224G>A (p.Arg75His)
|
rs762847144
|
|
NM_000742.4(CHRNA2):c.225C>A (p.Arg75=)
|
rs371737919
|
|
NM_000742.4(CHRNA2):c.225C>T (p.Arg75=)
|
rs371737919
|
|
NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg)
|
rs199810678
|
|
NM_000742.4(CHRNA2):c.22T>A (p.Phe8Ile)
|
rs1812864886
|
|
NM_000742.4(CHRNA2):c.235A>G (p.Asn79Asp)
|
rs1812814993
|
|
NM_000742.4(CHRNA2):c.239C>T (p.Thr80Ile)
|
rs1812814759
|
|
NM_000742.4(CHRNA2):c.245A>G (p.Asp82Gly)
|
|
|
NM_000742.4(CHRNA2):c.24C>G (p.Phe8Leu)
|
|
|
NM_000742.4(CHRNA2):c.24C>T (p.Phe8=)
|
rs757567429
|
|
NM_000742.4(CHRNA2):c.257T>A (p.Val86Glu)
|
|
|
NM_000742.4(CHRNA2):c.265G>A (p.Gly89Arg)
|
|
|
NM_000742.4(CHRNA2):c.269T>C (p.Leu90Pro)
|
|
|
NM_000742.4(CHRNA2):c.277G>C (p.Ala93Pro)
|
|
|
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe)
|
rs149615415
|
|
NM_000742.4(CHRNA2):c.288C>A (p.Ile96=)
|
rs561008438
|
|
NM_000742.4(CHRNA2):c.288C>G (p.Ile96Met)
|
|
|
NM_000742.4(CHRNA2):c.294+10T>C
|
rs2132666877
|
|
NM_000742.4(CHRNA2):c.294+19C>T
|
|
|
NM_000742.4(CHRNA2):c.294+1G>A
|
rs1064795899
|
|
NM_000742.4(CHRNA2):c.294+2T>C
|
|
|
NM_000742.4(CHRNA2):c.295-16_295-7dup
|
rs776047724
|
|
NM_000742.4(CHRNA2):c.295-18T>A
|
rs2132666061
|
|
NM_000742.4(CHRNA2):c.295-19C>G
|
|
|
NM_000742.4(CHRNA2):c.295-5G>A
|
|
|
NM_000742.4(CHRNA2):c.295-6G>A
|
rs2132665999
|
|
NM_000742.4(CHRNA2):c.295-7G>A
|
rs1812797993
|
|
NM_000742.4(CHRNA2):c.295-8del
|
|
|
NM_000742.4(CHRNA2):c.295-9C>T
|
rs2132666030
|
|
NM_000742.4(CHRNA2):c.298G>A (p.Glu100Lys)
|
|
|
NM_000742.4(CHRNA2):c.29C>A (p.Ser10Tyr)
|
|
|
NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln)
|
rs1554515367
|
|
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser)
|
rs2132665924
|
|
NM_000742.4(CHRNA2):c.321C>T (p.Thr107=)
|
rs886044444
|
|
NM_000742.4(CHRNA2):c.327C>T (p.Val109=)
|
|
|
NM_000742.4(CHRNA2):c.328T>A (p.Trp110Arg)
|
|
|
NM_000742.4(CHRNA2):c.332T>C (p.Leu111Pro)
|
|
|
NM_000742.4(CHRNA2):c.338A>C (p.Gln113Pro)
|
|
|
NM_000742.4(CHRNA2):c.339+11C>T
|
|
|
NM_000742.4(CHRNA2):c.339+12_339+13del
|
rs139680977
|
|
NM_000742.4(CHRNA2):c.339+13dup
|
rs139680977
|
|
NM_000742.4(CHRNA2):c.339+5G>C
|
|
|
NM_000742.4(CHRNA2):c.339+7G>A
|
rs1370162616
|
|
NM_000742.4(CHRNA2):c.339+8C>G
|
rs768490793
|
|
NM_000742.4(CHRNA2):c.340-11C>G
|
|
|
NM_000742.4(CHRNA2):c.340-16C>A
|
|
|
NM_000742.4(CHRNA2):c.340-18C>A
|
|
|
NM_000742.4(CHRNA2):c.340-9C>T
|
rs1278613957
|
|
NM_000742.4(CHRNA2):c.348C>A (p.Ser116Arg)
|
rs779790900
|
|
NM_000742.4(CHRNA2):c.348C>T (p.Ser116=)
|
rs779790900
|
|
NM_000742.4(CHRNA2):c.35C>T (p.Thr12Ile)
|
|
|
NM_000742.4(CHRNA2):c.360G>A (p.Leu120=)
|
rs1586395599
|
|
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser)
|
rs746274421
|
|
NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys)
|
|
|
NM_000742.4(CHRNA2):c.362G>A (p.Arg121His)
|
|
|
NM_000742.4(CHRNA2):c.363C>G (p.Arg121=)
|
|
|
NM_000742.4(CHRNA2):c.364T>C (p.Trp122Arg)
|
|
|
NM_000742.4(CHRNA2):c.368A>G (p.Asn123Ser)
|
rs2132661449
|
|
NM_000742.4(CHRNA2):c.370C>A (p.Pro124Thr)
|
|
|
NM_000742.4(CHRNA2):c.372C>G (p.Pro124=)
|
|
|
NM_000742.4(CHRNA2):c.372_373inv (p.Thr125Ala)
|
|
|
NM_000742.4(CHRNA2):c.373del (p.Thr125fs)
|
|
|
NM_000742.4(CHRNA2):c.375T>C (p.Thr125=)
|
|
|
NM_000742.4(CHRNA2):c.376G>T (p.Asp126Tyr)
|
|
|
NM_000742.4(CHRNA2):c.380T>G (p.Phe127Cys)
|
rs777304017
|
|
NM_000742.4(CHRNA2):c.392C>T (p.Thr131Ile)
|
|
|
NM_000742.4(CHRNA2):c.403del (p.Val135fs)
|
rs777391476
|
|
NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly)
|
rs1563321069
|
|
NM_000742.4(CHRNA2):c.411T>A (p.Ser137=)
|
|
|
NM_000742.4(CHRNA2):c.413_422del (p.Glu138fs)
|
|
|
NM_000742.4(CHRNA2):c.428C>A (p.Pro143His)
|
|
|
NM_000742.4(CHRNA2):c.437T>C (p.Val146Ala)
|
|
|
NM_000742.4(CHRNA2):c.444C>T (p.Tyr148=)
|
|
|
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del)
|
rs758217117
|
|
NM_000742.4(CHRNA2):c.449+16G>T
|
|
|
NM_000742.4(CHRNA2):c.449+2T>C
|
rs2132661149
|
|
NM_000742.4(CHRNA2):c.449+9C>G
|
rs368584036
|
|
NM_000742.4(CHRNA2):c.450-15C>A
|
|
|
NM_000742.4(CHRNA2):c.450-1G>T
|
|
|
NM_000742.4(CHRNA2):c.450-87C>G
|
rs3735757
|
|
NM_000742.4(CHRNA2):c.450-9T>A
|
rs1812619727
|
|
NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu)
|
rs1812618871
|
|
NM_000742.4(CHRNA2):c.459G>A (p.Gly153=)
|
rs1586391704
|
|
NM_000742.4(CHRNA2):c.476A>G (p.His159Arg)
|
rs1812618288
|
|
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs)
|
rs1563319139
|
|
NM_000742.4(CHRNA2):c.48G>A (p.Leu16=)
|
rs2132670415
|
|
NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe)
|
rs1812616489
|
|
NM_000742.4(CHRNA2):c.502A>T (p.Thr168Ser)
|
|
|
NM_000742.4(CHRNA2):c.504G>C (p.Thr168=)
|
rs1247001566
|
|
NM_000742.4(CHRNA2):c.515A>G (p.His172Arg)
|
rs1812615728
|
|
NM_000742.4(CHRNA2):c.516C>A (p.His172Gln)
|
rs1563319114
|
|
NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)
|
|
|
NM_000742.4(CHRNA2):c.523C>A (p.Pro175Thr)
|
|
|
NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu)
|
|
|
NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln)
|
rs769273715
|
|
NM_000742.4(CHRNA2):c.527C>T (p.Pro176Leu)
|
rs769273715
|
|
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter)
|
rs192887571
|
|
NM_000742.4(CHRNA2):c.540G>C (p.Lys180Asn)
|
rs201551533
|
|
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg)
|
rs768575325
|
|
NM_000742.4(CHRNA2):c.543C>T (p.Ser181=)
|
|
|
NM_000742.4(CHRNA2):c.549C>A (p.Cys183Ter)
|
rs1563319049
|
|
NM_000742.4(CHRNA2):c.551G>T (p.Ser184Ile)
|
|
|
NM_000742.4(CHRNA2):c.556G>A (p.Asp186Asn)
|
|
|
NM_000742.4(CHRNA2):c.559G>A (p.Val187Ile)
|
|
|
NM_000742.4(CHRNA2):c.563C>A (p.Thr188Asn)
|
|
|
NM_000742.4(CHRNA2):c.564C>T (p.Thr188=)
|
|
|
NM_000742.4(CHRNA2):c.56T>C (p.Leu19Pro)
|
rs1812863482
|
|
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr)
|
|
|
NM_000742.4(CHRNA2):c.579C>A (p.Asp193Glu)
|
rs2132654151
|
|
NM_000742.4(CHRNA2):c.584A>C (p.Gln195Pro)
|
rs2132654123
|
|
NM_000742.4(CHRNA2):c.589T>C (p.Cys197Arg)
|
rs1554514597
|
|
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe)
|
rs796052299
|
|
NM_000742.4(CHRNA2):c.603_616del (p.Phe201fs)
|
|
|
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs)
|
rs1812608825
|
|
NM_000742.4(CHRNA2):c.618T>C (p.Tyr206=)
|
|
|
NM_000742.4(CHRNA2):c.621C>T (p.Asp207=)
|
rs2132654000
|
|
NM_000742.4(CHRNA2):c.625G>A (p.Ala209Thr)
|
|
|
NM_000742.4(CHRNA2):c.633C>T (p.Ile211=)
|
|
|
NM_000742.4(CHRNA2):c.643C>A (p.Gln215Lys)
|
rs1812608078
|
|
NM_000742.4(CHRNA2):c.644A>G (p.Gln215Arg)
|
|
|
NM_000742.4(CHRNA2):c.646A>G (p.Met216Val)
|
rs1812607837
|
|
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr)
|
|
|
NM_000742.4(CHRNA2):c.653A>G (p.Gln218Arg)
|
rs377660408
|
|
NM_000742.4(CHRNA2):c.655A>G (p.Thr219Ala)
|
rs1428288320
|
|
NM_000742.4(CHRNA2):c.662A>G (p.Asp221Gly)
|
|
|
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg)
|
|
|
NM_000742.4(CHRNA2):c.686_694del (p.Gly229_Trp231del)
|
|
|
NM_000742.4(CHRNA2):c.694G>A (p.Ala232Thr)
|
rs1226134787
|
|
NM_000742.4(CHRNA2):c.695C>A (p.Ala232Asp)
|
rs933808461
|
|
NM_000742.4(CHRNA2):c.699C>A (p.Ile233=)
|
|
|
NM_000742.4(CHRNA2):c.699C>T (p.Ile233=)
|
rs1321895505
|
|
NM_000742.4(CHRNA2):c.6C>A (p.Gly2=)
|
|
|
NM_000742.4(CHRNA2):c.711G>A (p.Thr237=)
|
|
|
NM_000742.4(CHRNA2):c.723C>T (p.Asn241=)
|
rs1060504822
|
|
NM_000742.4(CHRNA2):c.73+4A>C
|
rs1307812125
|
|
NM_000742.4(CHRNA2):c.74-6T>C
|
|
|
NM_000742.4(CHRNA2):c.74-6T>G
|
|
|
NM_000742.4(CHRNA2):c.740G>A (p.Cys247Tyr)
|
rs1812601639
|
|
NM_000742.4(CHRNA2):c.747C>G (p.Ala249=)
|
rs1040149262
|
|
NM_000742.4(CHRNA2):c.747C>T (p.Ala249=)
|
|
|
NM_000742.4(CHRNA2):c.748G>A (p.Glu250Lys)
|
rs1262745996
|
|
NM_000742.4(CHRNA2):c.74G>C (p.Gly25Ala)
|
|
|
NM_000742.4(CHRNA2):c.763del (p.Val255fs)
|
rs2132653296
|
|
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile)
|
rs1586390822
|
|
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)
|
|
|
NM_000742.4(CHRNA2):c.784del (p.Arg262fs)
|
rs1332347946
|
|
NM_000742.4(CHRNA2):c.788G>C (p.Arg263Pro)
|
|
|
NM_000742.4(CHRNA2):c.78A>C (p.Gly26=)
|
|
|
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile)
|
rs1554514530
|
|
NM_000742.4(CHRNA2):c.809T>C (p.Ile270Thr)
|
rs2132653089
|
|
NM_000742.4(CHRNA2):c.822C>G (p.Ile274Met)
|
|
|
NM_000742.4(CHRNA2):c.82G>C (p.Glu28Gln)
|
rs1812825772
|
|
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn)
|
rs104894063
|
|
NM_000742.4(CHRNA2):c.844C>T (p.Leu282Phe)
|
|
|
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser)
|
rs1060503073
|
|
NM_000742.4(CHRNA2):c.865C>T (p.Leu289=)
|
rs2132652883
|
|
NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp)
|
|
|
NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del)
|
rs796052309
|
|
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe)
|
rs1554514507
|
|
NM_000742.4(CHRNA2):c.894G>C (p.Thr298=)
|
|
|
NM_000742.4(CHRNA2):c.906G>T (p.Ser302=)
|
rs151068685
|
|
NM_000742.4(CHRNA2):c.907G>A (p.Val303Met)
|
|
|
NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu)
|
rs2132652645
|
|
NM_000742.4(CHRNA2):c.910C>T (p.Leu304=)
|
|
|
NM_000742.4(CHRNA2):c.912_913delinsAA (p.Leu305Met)
|
rs2132652617
|
|
NM_000742.4(CHRNA2):c.915G>A (p.Leu305=)
|
|
|
NM_000742.4(CHRNA2):c.918A>T (p.Ser306=)
|
rs908715626
|
|
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro)
|
rs1233767222
|
|
NM_000742.4(CHRNA2):c.924C>G (p.Thr308=)
|
|
|
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys)
|
rs1563318247
|
|
NM_000742.4(CHRNA2):c.92G>A (p.Arg31His)
|
|
|
NM_000742.4(CHRNA2):c.936G>C (p.Leu312=)
|
rs1319128623
|
|
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
|
|
|
NM_000742.4(CHRNA2):c.948G>C (p.Glu316Asp)
|
rs1812587015
|
|
NM_000742.4(CHRNA2):c.953T>A (p.Ile318Asn)
|
|
|
NM_000742.4(CHRNA2):c.956C>G (p.Pro319Arg)
|
rs750130500
|
|
NM_000742.4(CHRNA2):c.956C>T (p.Pro319Leu)
|
rs750130500
|
|
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr)
|
rs760884840
|
|
NM_000742.4(CHRNA2):c.966G>C (p.Ser322=)
|
rs140118184
|
|
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)
|
|
|
NM_000742.4(CHRNA2):c.978G>A (p.Pro326=)
|
|
|
NM_000742.4(CHRNA2):c.981C>T (p.Leu327=)
|
|
|
NM_000742.4(CHRNA2):c.986G>C (p.Gly329Ala)
|
|
|
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs)
|
rs1812583233
|
|
NM_000742.4(CHRNA2):c.98C>G (p.Pro33Arg)
|
|
|
NM_000742.4(CHRNA2):c.993C>A (p.Tyr331Ter)
|
|
|
NM_000744.7(CHRNA4):c.1002G>A (p.Ser334=)
|
rs121912263
|
|
NM_000744.7(CHRNA4):c.1003C>T (p.Pro335Ser)
|
|
|
NM_000744.7(CHRNA4):c.1011G>A (p.Thr337=)
|
|
|
NM_000744.7(CHRNA4):c.1016C>A (p.Thr339Asn)
|
rs2123471762
|
|
NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)
|
|
|
NM_000744.7(CHRNA4):c.1030dup (p.Val344fs)
|
rs1299258914
|
|
NM_000744.7(CHRNA4):c.1033C>G (p.Arg345Gly)
|
|
|
NM_000744.7(CHRNA4):c.1034G>A (p.Arg345His)
|
|
|
NM_000744.7(CHRNA4):c.1038G>A (p.Arg346=)
|
|
|
NM_000744.7(CHRNA4):c.1051A>G (p.Ile351Val)
|
|
|
NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe)
|
rs121912265
|
|
NM_000744.7(CHRNA4):c.1069C>T (p.Leu357Phe)
|
rs1215991666
|
|
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu)
|
rs1555837732
|
|
NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter)
|
rs1555837732
|
|
NM_000744.7(CHRNA4):c.1076A>C (p.Lys359Thr)
|
|
|
NM_000744.7(CHRNA4):c.1078C>T (p.Arg360Trp)
|
rs759167480
|
|
NM_000744.7(CHRNA4):c.107C>A (p.Ala36Asp)
|
rs2068775011
|
|
NM_000744.7(CHRNA4):c.1083G>C (p.Pro361=)
|
rs202140852
|
|
NM_000744.7(CHRNA4):c.1083G>T (p.Pro361=)
|
rs202140852
|
|
NM_000744.7(CHRNA4):c.1085C>T (p.Ser362Phe)
|
|
|
NM_000744.7(CHRNA4):c.1090G>A (p.Val364Ile)
|
|
|
NM_000744.7(CHRNA4):c.1091T>A (p.Val364Asp)
|
|
|
NM_000744.7(CHRNA4):c.109G>C (p.Glu37Gln)
|
|
|
NM_000744.7(CHRNA4):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
|
|
|
NM_000744.7(CHRNA4):c.1122C>T (p.Ser374=)
|
|
|
NM_000744.7(CHRNA4):c.1129A>C (p.Lys377Gln)
|
|
|
NM_000744.7(CHRNA4):c.112G>C (p.Glu38Gln)
|
rs1428100117
|
|
NM_000744.7(CHRNA4):c.1131G>T (p.Lys377Asn)
|
rs2123471394
|
|
NM_000744.7(CHRNA4):c.1136_1158del (p.Ala379fs)
|
rs2068568636
|
|
NM_000744.7(CHRNA4):c.1139G>A (p.Ser380Asn)
|
rs1601474256
|
|
NM_000744.7(CHRNA4):c.113A>G (p.Glu38Gly)
|
rs756100070
|
|
NM_000744.7(CHRNA4):c.113A>T (p.Glu38Val)
|
rs756100070
|
|
NM_000744.7(CHRNA4):c.1146G>A (p.Pro382=)
|
rs61737377
|
|
NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=)
|
rs45564639
|
|
NM_000744.7(CHRNA4):c.1158C>T (p.Pro386=)
|
rs45564639
|
|
NM_000744.7(CHRNA4):c.115C>A (p.Arg39=)
|
|
|
NM_000744.7(CHRNA4):c.1161G>C (p.Glu387Asp)
|
rs1064795592
|
|
NM_000744.7(CHRNA4):c.116G>A (p.Arg39Gln)
|
rs1412355004
|
|
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu)
|
rs2123471262
|
|
NM_000744.7(CHRNA4):c.1178del (p.Pro393fs)
|
rs1435638963
|
|
NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs)
|
rs1435638963
|
|
NM_000744.7(CHRNA4):c.1183A>G (p.Thr395Ala)
|
rs2068567925
|
|
NM_000744.7(CHRNA4):c.1185G>A (p.Thr395=)
|
rs1448350798
|
|
NM_000744.7(CHRNA4):c.1188C>A (p.Ser396Arg)
|
|
|
NM_000744.7(CHRNA4):c.1192A>G (p.Thr398Ala)
|
|
|
NM_000744.7(CHRNA4):c.1194C>T (p.Thr398=)
|
rs752592838
|
|
NM_000744.7(CHRNA4):c.1201C>T (p.Leu401=)
|
|
|
NM_000744.7(CHRNA4):c.1206C>A (p.His402Gln)
|
|
|
NM_000744.7(CHRNA4):c.1207C>A (p.Pro403Thr)
|
rs903340563
|
|
NM_000744.7(CHRNA4):c.1207C>T (p.Pro403Ser)
|
|
|
NM_000744.7(CHRNA4):c.1208_1209delinsT (p.Pro403fs)
|
rs2068566927
|
|
NM_000744.7(CHRNA4):c.1209G>A (p.Pro403=)
|
rs2229959
|
|
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)
|
rs2229959
|
|
NM_000744.7(CHRNA4):c.1209_1210delinsTT (p.Pro404Ser)
|
rs1064795858
|
|
NM_000744.7(CHRNA4):c.1211C>T (p.Pro404Leu)
|
rs1435870435
|
|
NM_000744.7(CHRNA4):c.1214C>T (p.Ser405Leu)
|
rs1568808891
|
|
NM_000744.7(CHRNA4):c.1216C>A (p.Pro406Thr)
|
rs571283490
|
|
NM_000744.7(CHRNA4):c.1216C>T (p.Pro406Ser)
|
|
|
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe)
|
rs761335733
|
|
NM_000744.7(CHRNA4):c.1221C>T (p.Ser407=)
|
rs1601473794
|
|
NM_000744.7(CHRNA4):c.1227_1228inv (p.Val410Ile)
|
|
|
NM_000744.7(CHRNA4):c.1229T>C (p.Val410Ala)
|
rs2123470999
|
|
NM_000744.7(CHRNA4):c.1230C>T (p.Val410=)
|
rs377273964
|
|
NM_000744.7(CHRNA4):c.1231C>A (p.Pro411Thr)
|
rs2068565794
|
|
NM_000744.7(CHRNA4):c.1232C>T (p.Pro411Leu)
|
rs779035642
|
|
NM_000744.7(CHRNA4):c.123G>C (p.Leu41=)
|
|
|
NM_000744.7(CHRNA4):c.1245G>T (p.Pro415=)
|
|
|
NM_000744.7(CHRNA4):c.1255G>A (p.Gly419Arg)
|
rs2068565140
|
|
NM_000744.7(CHRNA4):c.1271C>T (p.Ser424Leu)
|
|
|
NM_000744.7(CHRNA4):c.1272A>G (p.Ser424=)
|
rs1601473530
|
|
NM_000744.7(CHRNA4):c.1274C>T (p.Pro425Leu)
|
rs561073516
|
|
NM_000744.7(CHRNA4):c.1275C>T (p.Pro425=)
|
|
|
NM_000744.7(CHRNA4):c.1279G>A (p.Asp427Asn)
|
rs1196580622
|
|
NM_000744.7(CHRNA4):c.1285C>T (p.Leu429Phe)
|
|
|
NM_000744.7(CHRNA4):c.1300C>T (p.Pro434Ser)
|
rs545104411
|
|
NM_000744.7(CHRNA4):c.1305G>A (p.Leu435=)
|
|
|
NM_000744.7(CHRNA4):c.1306G>A (p.Glu436Lys)
|
|
|
NM_000744.7(CHRNA4):c.1313A>G (p.Glu438Gly)
|
rs2068563339
|
|
NM_000744.7(CHRNA4):c.1320C>T (p.Ala440=)
|
|
|
NM_000744.7(CHRNA4):c.1325C>T (p.Pro442Leu)
|
|
|
NM_000744.7(CHRNA4):c.1328A>C (p.His443Pro)
|
rs2123470721
|
|
NM_000744.7(CHRNA4):c.1329C>G (p.His443Gln)
|
rs2068562807
|
|
NM_000744.7(CHRNA4):c.132C>T (p.Leu44=)
|
rs1555840462
|
|
NM_000744.7(CHRNA4):c.1330C>T (p.Pro444Ser)
|
rs2123470716
|
|
NM_000744.7(CHRNA4):c.1332C>G (p.Pro444=)
|
|
|
NM_000744.7(CHRNA4):c.1349G>A (p.Arg450His)
|
|
|
NM_000744.7(CHRNA4):c.1355C>T (p.Pro452Leu)
|
rs2068562170
|
|
NM_000744.7(CHRNA4):c.1369G>A (p.Ala457Thr)
|
rs753598324
|
|
NM_000744.7(CHRNA4):c.1372C>T (p.Pro458Ser)
|
|
|
NM_000744.7(CHRNA4):c.1373C>A (p.Pro458Gln)
|
rs121912277
|
|
NM_000744.7(CHRNA4):c.1380G>A (p.Leu460=)
|
rs2123470582
|
|
NM_000744.7(CHRNA4):c.1385A>C (p.Lys462Thr)
|
rs1568808487
|
|
NM_000744.7(CHRNA4):c.1395C>A (p.Ser465=)
|
|
|
NM_000744.7(CHRNA4):c.1395C>G (p.Ser465=)
|
rs748016098
|
|
NM_000744.7(CHRNA4):c.139G>A (p.Gly47Ser)
|
|
|
NM_000744.7(CHRNA4):c.1400G>A (p.Ser467Asn)
|
|
|
NM_000744.7(CHRNA4):c.1401C>G (p.Ser467Arg)
|
rs45569837
|
|
NM_000744.7(CHRNA4):c.1411A>G (p.Met471Val)
|
rs1568808418
|
|
NM_000744.7(CHRNA4):c.1415C>G (p.Ser472Cys)
|
|
|
NM_000744.7(CHRNA4):c.1417A>G (p.Ser473Gly)
|
rs1555837484
|
|
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn)
|
rs2068560302
|
|
NM_000744.7(CHRNA4):c.1422T>C (p.Pro474=)
|
|
|
NM_000744.7(CHRNA4):c.1431G>C (p.Ala477=)
|
|
|
NM_000744.7(CHRNA4):c.1444G>A (p.Val482Ile)
|
|
|
NM_000744.7(CHRNA4):c.1447C>A (p.Arg483=)
|
|
|
NM_000744.7(CHRNA4):c.1449G>A (p.Arg483=)
|
|
|
NM_000744.7(CHRNA4):c.144CAA[1] (p.Asn49del)
|
rs780385531
|
|
NM_000744.7(CHRNA4):c.1453C>T (p.Arg485Trp)
|
rs978124935
|
|
NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr)
|
rs377087067
|
|
NM_000744.7(CHRNA4):c.1466T>G (p.Ile489Ser)
|
rs377087067
|
|
NM_000744.7(CHRNA4):c.147C>G (p.Asn49Lys)
|
|
|
NM_000744.7(CHRNA4):c.147C>T (p.Asn49=)
|
rs201484306
|
|
NM_000744.7(CHRNA4):c.1484G>A (p.Arg495Gln)
|
|
|
NM_000744.7(CHRNA4):c.1489G>A (p.Asp497Asn)
|
|
|
NM_000744.7(CHRNA4):c.1496C>A (p.Ala499Asp)
|
rs1191814622
|
|
NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val)
|
rs946142547
|
|
NM_000744.7(CHRNA4):c.14del (p.Gly5fs)
|
rs2068814247
|
|
NM_000744.7(CHRNA4):c.1500dup (p.Glu501fs)
|
|
|
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
|
|
|
NM_000744.7(CHRNA4):c.1523_1525dup (p.Gly508dup)
|
rs2068557278
|
|
NM_000744.7(CHRNA4):c.152G>A (p.Trp51Ter)
|
|
|
NM_000744.7(CHRNA4):c.1542C>G (p.Asn514Lys)
|
|
|
NM_000744.7(CHRNA4):c.1543A>C (p.Thr515Pro)
|
|
|
NM_000744.7(CHRNA4):c.1545C>T (p.Thr515=)
|
|
|
NM_000744.7(CHRNA4):c.1547A>G (p.His516Arg)
|
|
|
NM_000744.7(CHRNA4):c.1553C>G (p.Ala518Gly)
|
rs201365294
|
|
NM_000744.7(CHRNA4):c.1553C>T (p.Ala518Val)
|
|
|
NM_000744.7(CHRNA4):c.1557G>A (p.Glu519=)
|
rs2068555737
|
|
NM_000744.7(CHRNA4):c.1563A>T (p.Pro521=)
|
|
|
NM_000744.7(CHRNA4):c.1569A>T (p.Pro523=)
|
rs2123470099
|
|
NM_000744.7(CHRNA4):c.1572C>T (p.Asp524=)
|
rs1307559644
|
|
NM_000744.7(CHRNA4):c.1574A>G (p.Gln525Arg)
|
rs1445972429
|
|
NM_000744.7(CHRNA4):c.1577C>T (p.Pro526Leu)
|
|
|
NM_000744.7(CHRNA4):c.1582C>T (p.Pro528Ser)
|
rs1353802225
|
|
NM_000744.7(CHRNA4):c.1586G>A (p.Cys529Tyr)
|
|
|
NM_000744.7(CHRNA4):c.1589A>C (p.Lys530Thr)
|
rs2123470034
|
|
NM_000744.7(CHRNA4):c.1596A>G (p.Thr532=)
|
rs533213338
|
|
NM_000744.7(CHRNA4):c.1598G>C (p.Cys533Ser)
|
|
|
NM_000744.7(CHRNA4):c.15C>T (p.Gly5=)
|
|
|
NM_000744.7(CHRNA4):c.1600AAG[1] (p.Lys535del)
|
rs2068554810
|
|
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
|
|
|
NM_000744.7(CHRNA4):c.161C>G (p.Pro54Arg)
|
rs2145408375
|
|
NM_000744.7(CHRNA4):c.1620G>A (p.Val540=)
|
|
|
NM_000744.7(CHRNA4):c.1622C>T (p.Ser541Phe)
|
|
|
NM_000744.7(CHRNA4):c.1625C>A (p.Pro542Gln)
|
|
|
NM_000744.7(CHRNA4):c.1629C>G (p.Ser543Arg)
|
rs1044396
|
|
NM_000744.7(CHRNA4):c.162C>G (p.Pro54=)
|
|
|
NM_000744.7(CHRNA4):c.1631C>T (p.Ala544Val)
|
|
|
NM_000744.7(CHRNA4):c.1635_1636insTGCCACG (p.Val546fs)
|
|
|
NM_000744.7(CHRNA4):c.1636G>T (p.Val546Phe)
|
rs2123469901
|
|
NM_000744.7(CHRNA4):c.1638C>G (p.Val546=)
|
|
|
NM_000744.7(CHRNA4):c.1645C>G (p.Arg549Gly)
|
rs367658654
|
|
NM_000744.7(CHRNA4):c.1663C>T (p.Pro555Ser)
|
rs757510859
|
|
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg)
|
rs77345643
|
|
NM_000744.7(CHRNA4):c.1667C>T (p.Pro556Leu)
|
rs77345643
|
|
NM_000744.7(CHRNA4):c.1668G>A (p.Pro556=)
|
|
|
NM_000744.7(CHRNA4):c.1668G>T (p.Pro556=)
|
rs201046333
|
|
NM_000744.7(CHRNA4):c.1678_1679del (p.Leu560fs)
|
rs1231314909
|
|
NM_000744.7(CHRNA4):c.1686G>A (p.Pro562=)
|
rs78050042
|
|
NM_000744.7(CHRNA4):c.1686_1689del (p.Pro562_Ala563insTer)
|
|
|
NM_000744.7(CHRNA4):c.168C>A (p.Ala56=)
|
rs2145408353
|
|
NM_000744.7(CHRNA4):c.1692G>C (p.Leu564=)
|
|
|
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr)
|
rs796052312
|
|
NM_000744.7(CHRNA4):c.1700C>G (p.Ala567Gly)
|
rs76895198
|
|
NM_000744.7(CHRNA4):c.1700C>T (p.Ala567Val)
|
rs76895198
|
|
NM_000744.7(CHRNA4):c.1719C>A (p.Tyr573Ter)
|
rs2123469625
|
|
NM_000744.7(CHRNA4):c.171C>T (p.Asn57=)
|
|
|
NM_000744.7(CHRNA4):c.1726G>A (p.Asp576Asn)
|
rs537904499
|
|
NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His)
|
rs537904499
|
|
NM_000744.7(CHRNA4):c.1729C>T (p.His577Tyr)
|
|
|
NM_000744.7(CHRNA4):c.172A>G (p.Ile58Val)
|
rs760044129
|
|
NM_000744.7(CHRNA4):c.1740C>T (p.Ala580=)
|
|
|
NM_000744.7(CHRNA4):c.1746C>T (p.Asp582=)
|
rs201727307
|
|
NM_000744.7(CHRNA4):c.1748_1749del (p.Thr583fs)
|
rs772170088
|
|
NM_000744.7(CHRNA4):c.174C>G (p.Ile58Met)
|
rs2068772907
|
|
NM_000744.7(CHRNA4):c.174C>T (p.Ile58=)
|
rs2068772907
|
|
NM_000744.7(CHRNA4):c.1752C>T (p.Asp584=)
|
|
|
NM_000744.7(CHRNA4):c.1758+10G>A
|
|
|
NM_000744.7(CHRNA4):c.1758+17G>A
|
rs1281048930
|
|
NM_000744.7(CHRNA4):c.1758+1G>T
|
|
|
NM_000744.7(CHRNA4):c.1758+8C>T
|
|
|
NM_000744.7(CHRNA4):c.1758G>A (p.Ser586=)
|
|
|
NM_000744.7(CHRNA4):c.1759-16G>A
|
|
|
NM_000744.7(CHRNA4):c.1759-18C>T
|
|
|
NM_000744.7(CHRNA4):c.1759-19A>C
|
|
|
NM_000744.7(CHRNA4):c.1762_1764del (p.Lys588del)
|
|
|
NM_000744.7(CHRNA4):c.1777T>G (p.Tyr593Asp)
|
|
|
NM_000744.7(CHRNA4):c.177G>C (p.Ser59=)
|
|
|
NM_000744.7(CHRNA4):c.177G>T (p.Ser59=)
|
rs138295365
|
|
NM_000744.7(CHRNA4):c.1780G>T (p.Val594Leu)
|
rs370887602
|
|
NM_000744.7(CHRNA4):c.1782G>A (p.Val594=)
|
|
|
NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val)
|
rs1019612389
|
|
NM_000744.7(CHRNA4):c.1800C>T (p.Arg600=)
|
rs2068503706
|
|
NM_000744.7(CHRNA4):c.1803C>T (p.Ile601=)
|
rs2123463774
|
|
NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu)
|
rs112051150
|
|
NM_000744.7(CHRNA4):c.180C>T (p.Asp60=)
|
|
|
NM_000744.7(CHRNA4):c.181G>T (p.Val61Leu)
|
rs150451372
|
|
NM_000744.7(CHRNA4):c.1825G>T (p.Val609Phe)
|
rs201168195
|
|
NM_000744.7(CHRNA4):c.183_195dup (p.Phe66fs)
|
|
|
NM_000744.7(CHRNA4):c.1841C>T (p.Thr614Met)
|
|
|
NM_000744.7(CHRNA4):c.1847G>T (p.Gly616Val)
|
rs796052324
|
|
NM_000744.7(CHRNA4):c.1848C>G (p.Gly616=)
|
|
|
NM_000744.7(CHRNA4):c.184G>A (p.Val62Ile)
|
|
|
NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu)
|
rs1568805215
|
|
NM_000744.7(CHRNA4):c.1855C>T (p.Leu619=)
|
|
|
NM_000744.7(CHRNA4):c.1858C>T (p.Pro620Ser)
|
rs1218865781
|
|
NM_000744.7(CHRNA4):c.1859C>G (p.Pro620Arg)
|
rs754340834
|
|
NM_000744.7(CHRNA4):c.1864T>C (p.Trp622Arg)
|
|
|
NM_000744.7(CHRNA4):c.1867C>T (p.Leu623=)
|
rs878854142
|
|
NM_000744.7(CHRNA4):c.18C>G (p.Pro6=)
|
|
|
NM_000744.7(CHRNA4):c.195C>A (p.Arg65=)
|
rs2068772101
|
|
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu)
|
rs201018244
|
|
NM_000744.7(CHRNA4):c.198C>T (p.Phe66=)
|
rs201018244
|
|
NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)
|
|
|
NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu)
|
rs1359272155
|
|
NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp)
|
rs1568819500
|
|
NM_000744.7(CHRNA4):c.201C>A (p.Gly67=)
|
rs2068771752
|
|
NM_000744.7(CHRNA4):c.201C>T (p.Gly67=)
|
|
|
NM_000744.7(CHRNA4):c.207C>G (p.Ser69=)
|
|
|
NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)
|
|
|
NM_000744.7(CHRNA4):c.210C>A (p.Ile70=)
|
rs765247204
|
|
NM_000744.7(CHRNA4):c.213T>C (p.Ala71=)
|
rs2145408224
|
|
NM_000744.7(CHRNA4):c.216G>A (p.Gln72=)
|
|
|
NM_000744.7(CHRNA4):c.219C>T (p.Leu73=)
|
rs1555840418
|
|
NM_000744.7(CHRNA4):c.21A>C (p.Gly7=)
|
|
|
NM_000744.7(CHRNA4):c.21A>G (p.Gly7=)
|
rs1406609330
|
|
NM_000744.7(CHRNA4):c.220A>C (p.Ile74Leu)
|
rs2068771449
|
|
NM_000744.7(CHRNA4):c.222T>C (p.Ile74=)
|
rs2145408221
|
|
NM_000744.7(CHRNA4):c.227T>G (p.Val76Gly)
|
|
|
NM_000744.7(CHRNA4):c.228+13G>A
|
rs45521136
|
|
NM_000744.7(CHRNA4):c.228+17C>T
|
|
|
NM_000744.7(CHRNA4):c.228+6T>A
|
|
|
NM_000744.7(CHRNA4):c.228+8A>T
|
|
|
NM_000744.7(CHRNA4):c.229-10G>A
|
rs776781462
|
|
NM_000744.7(CHRNA4):c.229-17C>T
|
rs2068720168
|
|
NM_000744.7(CHRNA4):c.229-5C>T
|
rs1255151217
|
|
NM_000744.7(CHRNA4):c.237G>A (p.Lys79=)
|
rs747023127
|
|
NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr)
|
rs2068719750
|
|
NM_000744.7(CHRNA4):c.252C>T (p.Thr84=)
|
|
|
NM_000744.7(CHRNA4):c.255G>A (p.Thr85=)
|
rs145142528
|
|
NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)
|
|
|
NM_000744.7(CHRNA4):c.261A>C (p.Val87=)
|
rs2145401998
|
|
NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter)
|
rs2145401994
|
|
NM_000744.7(CHRNA4):c.270G>A (p.Lys90=)
|
rs2145401983
|
|
NM_000744.7(CHRNA4):c.273+14C>A
|
rs2145401939
|
|
NM_000744.7(CHRNA4):c.273+9G>A
|
|
|
NM_000744.7(CHRNA4):c.274-13C>G
|
rs1057524765
|
|
NM_000744.7(CHRNA4):c.274-14C>T
|
rs2068713307
|
|
NM_000744.7(CHRNA4):c.274-16G>A
|
|
|
NM_000744.7(CHRNA4):c.274-17C>T
|
|
|
NM_000744.7(CHRNA4):c.274-19C>G
|
rs2145401105
|
|
NM_000744.7(CHRNA4):c.274-20C>T
|
|
|
NM_000744.7(CHRNA4):c.274-3C>T
|
|
|
NM_000744.7(CHRNA4):c.274-9C>T
|
rs765669522
|
|
NM_000744.7(CHRNA4):c.27G>A (p.Pro9=)
|
|
|
NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)
|
|
|
NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly)
|
rs2068813671
|
|
NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)
|
|
|
NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)
|
|
|
NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)
|
|
|
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup)
|
rs777630161
|
|
NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr)
|
rs2068814460
|
|
NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn)
|
rs1427242612
|
|
NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu)
|
rs759593635
|
|
NM_000744.7(CHRNA4):c.315T>C (p.Tyr105=)
|
|
|
NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)
|
|
|
NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)
|
|
|
NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)
|
|
|
NM_000744.7(CHRNA4):c.345C>A (p.Ser115=)
|
rs201033859
|
|
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)
|
rs866334493
|
|
NM_000744.7(CHRNA4):c.358C>A (p.Arg120=)
|
rs200010568
|
|
NM_000744.7(CHRNA4):c.363G>A (p.Pro121=)
|
rs149936966
|
|
NM_000744.7(CHRNA4):c.363G>C (p.Pro121=)
|
rs149936966
|
|
NM_000744.7(CHRNA4):c.366C>T (p.Asp122=)
|
|
|
NM_000744.7(CHRNA4):c.369C>T (p.Ile123=)
|
rs1334588457
|
|
NM_000744.7(CHRNA4):c.36G>A (p.Leu12=)
|
rs1039600168
|
|
NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe)
|
rs1568816521
|
|
NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)
|
|
|
NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)
|
|
|
NM_000744.7(CHRNA4):c.382_383+1dup
|
rs2145400815
|
|
NM_000744.7(CHRNA4):c.383+14A>G
|
|
|
NM_000744.7(CHRNA4):c.383+15_383+32del
|
|
|
NM_000744.7(CHRNA4):c.383+16C>T
|
rs1211345378
|
|
NM_000744.7(CHRNA4):c.383+3G>A
|
|
|
NM_000744.7(CHRNA4):c.384-15T>G
|
|
|
NM_000744.7(CHRNA4):c.384-3C>G
|
rs894265779
|
|
NM_000744.7(CHRNA4):c.384-5C>T
|
|
|
NM_000744.7(CHRNA4):c.384-7T>C
|
|
|
NM_000744.7(CHRNA4):c.388G>C (p.Asp130His)
|
rs2068589553
|
|
NM_000744.7(CHRNA4):c.389A>G (p.Asp130Gly)
|
|
|
NM_000744.7(CHRNA4):c.38C>T (p.Pro13Leu)
|
|
|
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup)
|
rs1064794327
|
|
NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del)
|
rs771936944
|
|
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup)
|
rs771936944
|
|
NM_000744.7(CHRNA4):c.391G>T (p.Gly131Trp)
|
|
|
NM_000744.7(CHRNA4):c.39G>A (p.Pro13=)
|
rs1158391765
|
|
NM_000744.7(CHRNA4):c.403_409del (p.Val135fs)
|
|
|
NM_000744.7(CHRNA4):c.405C>A (p.Val135=)
|
|
|
NM_000744.7(CHRNA4):c.409C>G (p.His137Asp)
|
rs1326365559
|
|
NM_000744.7(CHRNA4):c.410A>G (p.His137Arg)
|
rs1380488577
|
|
NM_000744.7(CHRNA4):c.413T>A (p.Leu138Gln)
|
rs1379403896
|
|
NM_000744.7(CHRNA4):c.419A>G (p.Lys140Arg)
|
|
|
NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu)
|
rs761934698
|
|
NM_000744.7(CHRNA4):c.42G>C (p.Pro14=)
|
|
|
NM_000744.7(CHRNA4):c.42G>T (p.Pro14=)
|
rs565990502
|
|
NM_000744.7(CHRNA4):c.42GCT[5] (p.Leu19dup)
|
rs1053984520
|
|
NM_000744.7(CHRNA4):c.431T>G (p.Phe144Cys)
|
|
|
NM_000744.7(CHRNA4):c.431del (p.Phe144fs)
|
rs2068588736
|
|
NM_000744.7(CHRNA4):c.434A>G (p.His145Arg)
|
rs2123473347
|
|
NM_000744.7(CHRNA4):c.435T>C (p.His145=)
|
rs199915426
|
|
NM_000744.7(CHRNA4):c.437A>G (p.Asp146Gly)
|
rs2068588643
|
|
NM_000744.7(CHRNA4):c.439G>T (p.Gly147Trp)
|
rs780556996
|
|
NM_000744.7(CHRNA4):c.441G>A (p.Gly147=)
|
rs2123473322
|
|
NM_000744.7(CHRNA4):c.443G>A (p.Arg148Gln)
|
|
|
NM_000744.7(CHRNA4):c.447G>T (p.Val149=)
|
rs2068588322
|
|
NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys)
|
rs200747769
|
|
NM_000744.7(CHRNA4):c.448C>T (p.Gln150Ter)
|
rs200747769
|
|
NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro)
|
rs886044055
|
|
NM_000744.7(CHRNA4):c.466A>G (p.Ile156Val)
|
rs754895704
|
|
NM_000744.7(CHRNA4):c.471C>T (p.Tyr157=)
|
|
|
NM_000744.7(CHRNA4):c.477C>T (p.Ser159=)
|
rs2068587734
|
|
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys)
|
rs201421555
|
|
NM_000744.7(CHRNA4):c.489C>T (p.Ile163=)
|
rs61734382
|
|
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser)
|
rs1568810867
|
|
NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln)
|
rs2145412501
|
|
NM_000744.7(CHRNA4):c.505C>T (p.Pro169Ser)
|
|
|
NM_000744.7(CHRNA4):c.506C>G (p.Pro169Arg)
|
rs199519224
|
|
NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu)
|
rs199519224
|
|
NM_000744.7(CHRNA4):c.507del (p.Phe170fs)
|
rs1250589502
|
|
NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn)
|
rs1352017376
|
|
NM_000744.7(CHRNA4):c.515A>G (p.Gln172Arg)
|
rs2068586894
|
|
NM_000744.7(CHRNA4):c.516G>A (p.Gln172=)
|
rs141909279
|
|
NM_000744.7(CHRNA4):c.51G>C (p.Leu17=)
|
rs79739740
|
|
NM_000744.7(CHRNA4):c.522C>A (p.Asn174Lys)
|
rs2068586748
|
|
NM_000744.7(CHRNA4):c.522C>G (p.Asn174Lys)
|
rs2068586748
|
|
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup)
|
rs2068812649
|
|
NM_000744.7(CHRNA4):c.538G>A (p.Gly180Ser)
|
|
|
NM_000744.7(CHRNA4):c.552C>G (p.Tyr184Ter)
|
rs112301452
|
|
NM_000744.7(CHRNA4):c.555C>T (p.Asp185=)
|
rs2123473061
|
|
NM_000744.7(CHRNA4):c.565A>G (p.Ile189Val)
|
|
|
NM_000744.7(CHRNA4):c.568G>T (p.Asp190Tyr)
|
rs750232429
|
|
NM_000744.7(CHRNA4):c.576G>A (p.Val192=)
|
|
|
NM_000744.7(CHRNA4):c.57G>A (p.Leu19=)
|
rs927241644
|
|
NM_000744.7(CHRNA4):c.580A>G (p.Met194Val)
|
|
|
NM_000744.7(CHRNA4):c.581T>C (p.Met194Thr)
|
rs2068585706
|
|
NM_000744.7(CHRNA4):c.588C>T (p.Ser196=)
|
rs2123472979
|
|
NM_000744.7(CHRNA4):c.597C>A (p.Asp199Glu)
|
rs376632839
|
|
NM_000744.7(CHRNA4):c.598C>G (p.Gln200Glu)
|
|
|
NM_000744.7(CHRNA4):c.602T>G (p.Leu201Arg)
|
rs2068585275
|
|
NM_000744.7(CHRNA4):c.605A>C (p.Asp202Ala)
|
|
|
NM_000744.7(CHRNA4):c.613G>A (p.Glu205Lys)
|
|
|
NM_000744.7(CHRNA4):c.615G>C (p.Glu205Asp)
|
rs2123472933
|
|
NM_000744.7(CHRNA4):c.618T>C (p.Ser206=)
|
rs1057521157
|
|
NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys)
|
rs771249249
|
|
NM_000744.7(CHRNA4):c.629T>C (p.Val210Ala)
|
rs1252975373
|
|
NM_000744.7(CHRNA4):c.631A>G (p.Ile211Val)
|
rs749493840
|
|
NM_000744.7(CHRNA4):c.633C>A (p.Ile211=)
|
rs769813725
|
|
NM_000744.7(CHRNA4):c.634G>A (p.Val212Met)
|
|
|
NM_000744.7(CHRNA4):c.636G>A (p.Val212=)
|
rs1813403521
|
|
NM_000744.7(CHRNA4):c.639_640inv (p.Ala214Thr)
|
|
|
NM_000744.7(CHRNA4):c.642C>G (p.Ala214=)
|
rs199939003
|
|
NM_000744.7(CHRNA4):c.642C>T (p.Ala214=)
|
|
|
NM_000744.7(CHRNA4):c.643G>A (p.Val215Met)
|
rs918550714
|
|
NM_000744.7(CHRNA4):c.647G>C (p.Gly216Ala)
|
|
|
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr)
|
rs201645533
|
|
NM_000744.7(CHRNA4):c.663G>T (p.Arg221Ser)
|
|
|
NM_000744.7(CHRNA4):c.66C>T (p.Gly22=)
|
rs2145412236
|
|
NM_000744.7(CHRNA4):c.678_679inv (p.Ala227Thr)
|
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
NM_000744.7(CHRNA4):c.681C>G (p.Ala227=)
|
rs45588436
|
|
NM_000744.7(CHRNA4):c.681C>T (p.Ala227=)
|
|
|
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys)
|
rs1064795157
|
|
NM_000744.7(CHRNA4):c.683A>T (p.Glu228Val)
|
rs1568810474
|
|
NM_000744.7(CHRNA4):c.687C>A (p.Ile229=)
|
rs200063611
|
|
NM_000744.7(CHRNA4):c.704A>G (p.Tyr235Cys)
|
|
|
NM_000744.7(CHRNA4):c.708C>G (p.Ala236=)
|
|
|
NM_000744.7(CHRNA4):c.720G>C (p.Arg240=)
|
rs777500590
|
|
NM_000744.7(CHRNA4):c.721C>G (p.Arg241Gly)
|
|
|
NM_000744.7(CHRNA4):c.727C>A (p.Pro243Thr)
|
rs1568810345
|
|
NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)
|
|
|
NM_000744.7(CHRNA4):c.731T>C (p.Leu244Pro)
|
rs2123472530
|
|
NM_000744.7(CHRNA4):c.732C>G (p.Leu244=)
|
|
|
NM_000744.7(CHRNA4):c.732C>T (p.Leu244=)
|
rs752054605
|
|
NM_000744.7(CHRNA4):c.73C>T (p.Arg25Cys)
|
rs2068812315
|
|
NM_000744.7(CHRNA4):c.744C>T (p.Ile248=)
|
|
|
NM_000744.7(CHRNA4):c.747C>T (p.Asn249=)
|
|
|
NM_000744.7(CHRNA4):c.748C>T (p.Leu250Phe)
|
rs759579810
|
|
NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)
|
|
|
NM_000744.7(CHRNA4):c.755T>C (p.Ile252Thr)
|
rs1601476010
|
|
NM_000744.7(CHRNA4):c.76+10G>A
|
rs2145412202
|
|
NM_000744.7(CHRNA4):c.76+12G>C
|
rs796052315
|
|
NM_000744.7(CHRNA4):c.76+13G>T
|
|
|
NM_000744.7(CHRNA4):c.76+1G>A
|
rs2068812210
|
|
NM_000744.7(CHRNA4):c.76+9C>G
|
|
|
NM_000744.7(CHRNA4):c.768C>T (p.Leu256=)
|
|
|
NM_000744.7(CHRNA4):c.77-16C>G
|
|
|
NM_000744.7(CHRNA4):c.77-5C>G
|
rs200082259
|
|
NM_000744.7(CHRNA4):c.77-5C>T
|
rs200082259
|
|
NM_000744.7(CHRNA4):c.77-5del
|
rs1209439525
|
|
NM_000744.7(CHRNA4):c.77-8C>A
|
|
|
NM_000744.7(CHRNA4):c.771C>G (p.Ile257Met)
|
|
|
NM_000744.7(CHRNA4):c.775_840dup (p.Ser280_Val281insCysLeuThrValLeuValPheTyrLeuProSerGluCysGlyGluLysIleThrLeuCysIleSer)
|
|
|
NM_000744.7(CHRNA4):c.777C>T (p.Cys259=)
|
rs1555837947
|
|
NM_000744.7(CHRNA4):c.778C>T (p.Leu260Phe)
|
|
|
NM_000744.7(CHRNA4):c.77C>T (p.Ala26Val)
|
rs761362001
|
|
NM_000744.7(CHRNA4):c.790G>A (p.Val264Ile)
|
rs2068579848
|
|
NM_000744.7(CHRNA4):c.792C>G (p.Val264=)
|
|
|
NM_000744.7(CHRNA4):c.797A>G (p.Tyr266Cys)
|
|
|
NM_000744.7(CHRNA4):c.799C>T (p.Leu267=)
|
rs121912256
|
|
NM_000744.7(CHRNA4):c.800T>G (p.Leu267Arg)
|
rs2068579508
|
|
NM_000744.7(CHRNA4):c.801G>A (p.Leu267=)
|
rs747762347
|
|
NM_000744.7(CHRNA4):c.802C>T (p.Pro268Ser)
|
|
|
NM_000744.7(CHRNA4):c.804C>T (p.Pro268=)
|
|
|
NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys)
|
rs2123472338
|
|
NM_000744.7(CHRNA4):c.808G>C (p.Glu270Gln)
|
|
|
NM_000744.7(CHRNA4):c.810G>C (p.Glu270Asp)
|
rs2123472324
|
|
NM_000744.7(CHRNA4):c.810G>T (p.Glu270Asp)
|
|
|
NM_000744.7(CHRNA4):c.816C>T (p.Gly272=)
|
rs981113016
|
|
NM_000744.7(CHRNA4):c.819G>A (p.Glu273=)
|
|
|
NM_000744.7(CHRNA4):c.81C>A (p.Ser27Arg)
|
rs1211831892
|
|
NM_000744.7(CHRNA4):c.825C>A (p.Ile275=)
|
|
|
NM_000744.7(CHRNA4):c.825C>G (p.Ile275Met)
|
|
|
NM_000744.7(CHRNA4):c.830T>C (p.Leu277Pro)
|
rs2068578781
|
|
NM_000744.7(CHRNA4):c.831G>A (p.Leu277=)
|
|
|
NM_000744.7(CHRNA4):c.831G>T (p.Leu277=)
|
rs762201442
|
|
NM_000744.7(CHRNA4):c.839C>G (p.Ser280Cys)
|
rs121909580
|
|
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe)
|
rs121909580
|
|
NM_000744.7(CHRNA4):c.844C>G (p.Leu282Val)
|
rs1601475770
|
|
NM_000744.7(CHRNA4):c.851C>G (p.Ser284Trp)
|
rs28931591
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000744.7(CHRNA4):c.855C>T (p.Leu285=)
|
rs2123472214
|
|
NM_000744.7(CHRNA4):c.861C>G (p.Val287=)
|
rs2068578110
|
|
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup)
|
rs281865067
|
|
NM_000744.7(CHRNA4):c.871C>T (p.Leu291Phe)
|
|
|
NM_000744.7(CHRNA4):c.873C>T (p.Leu291=)
|
|
|
NM_000744.7(CHRNA4):c.87T>C (p.His29=)
|
|
|
NM_000744.7(CHRNA4):c.888C>A (p.Ile296=)
|
|
|
NM_000744.7(CHRNA4):c.888C>T (p.Ile296=)
|
|
|
NM_000744.7(CHRNA4):c.88G>C (p.Val30Leu)
|
rs746557446
|
|
NM_000744.7(CHRNA4):c.890C>T (p.Pro297Leu)
|
|
|
NM_000744.7(CHRNA4):c.891G>A (p.Pro297=)
|
|
|
NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln)
|
rs2145412488
|
|
NM_000744.7(CHRNA4):c.901C>T (p.Leu301=)
|
rs2123472082
|
|
NM_000744.7(CHRNA4):c.913C>G (p.Leu305Val)
|
rs2123472055
|
|
NM_000744.7(CHRNA4):c.918C>T (p.Ile306=)
|
|
|
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser)
|
rs764586079
|
|
NM_000744.7(CHRNA4):c.922G>T (p.Glu308Ter)
|
rs1369167310
|
|
NM_000744.7(CHRNA4):c.936C>T (p.Phe312=)
|
rs2123472003
|
|
NM_000744.7(CHRNA4):c.940A>T (p.Met314Leu)
|
|
|
NM_000744.7(CHRNA4):c.942G>A (p.Met314Ile)
|
|
|
NM_000744.7(CHRNA4):c.946T>G (p.Phe316Val)
|
|
|
NM_000744.7(CHRNA4):c.950T>A (p.Val317Asp)
|
rs2068575976
|
|
NM_000744.7(CHRNA4):c.953C>A (p.Thr318Asn)
|
rs121912260
|
|
NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln)
|
|
|
NM_000744.7(CHRNA4):c.956T>C (p.Leu319Pro)
|
rs1315507965
|
|
NM_000744.7(CHRNA4):c.957G>A (p.Leu319=)
|
rs761872673
|
|
NM_000744.7(CHRNA4):c.973G>A (p.Val325Ile)
|
|
|
NM_000744.7(CHRNA4):c.975C>T (p.Val325=)
|
|
|
NM_000744.7(CHRNA4):c.979G>C (p.Val327Leu)
|
|
|
NM_000744.7(CHRNA4):c.97C>T (p.Arg33Trp)
|
rs370553755
|
|
NM_000744.7(CHRNA4):c.9del (p.Gly5fs)
|
rs2145412485
|
|
NM_000748.3(CHRNB2):c.1003G>A (p.Val335Met)
|
|
|
NM_000748.3(CHRNB2):c.1008G>A (p.Lys336=)
|
rs779023843
|
|
NM_000748.3(CHRNB2):c.1011C>A (p.Val337=)
|
rs766422414
|
|
NM_000748.3(CHRNB2):c.1017C>A (p.Phe339Leu)
|
rs756041212
|
|
NM_000748.3(CHRNB2):c.1018C>T (p.Leu340=)
|
rs2101521714
|
|
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr)
|
rs927693883
|
|
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=)
|
rs1571022654
|
|
NM_000748.3(CHRNB2):c.1040T>C (p.Leu347Pro)
|
|
|
NM_000748.3(CHRNB2):c.1049A>G (p.Gln350Arg)
|
|
|
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe)
|
rs1557850747
|
|
NM_000748.3(CHRNB2):c.1073G>C (p.Arg358Pro)
|
|
|
NM_000748.3(CHRNB2):c.1078C>T (p.Arg360Cys)
|
rs2101521916
|
|
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3])
|
rs781654245
|
|
NM_000748.3(CHRNB2):c.1088_1093dup (p.361LR[3])
|
rs2101521963
|
|
NM_000748.3(CHRNB2):c.1089G>A (p.Leu363=)
|
rs930562574
|
|
NM_000748.3(CHRNB2):c.108C>T (p.Leu36=)
|
rs2149366138
|
|
NM_000748.3(CHRNB2):c.1093C>A (p.Arg365=)
|
rs1448656942
|
|
NM_000748.3(CHRNB2):c.1094G>T (p.Arg365Leu)
|
|
|
NM_000748.3(CHRNB2):c.1096C>T (p.Arg366Cys)
|
|
|
NM_000748.3(CHRNB2):c.1097_1099dup (p.Arg366_Gln367insArg)
|
|
|
NM_000748.3(CHRNB2):c.1098C>A (p.Arg366=)
|
|
|
NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)
|
|
|
NM_000748.3(CHRNB2):c.1100A>G (p.Gln367Arg)
|
|
|
NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)
|
|
|
NM_000748.3(CHRNB2):c.1109G>A (p.Arg370His)
|
rs200483865
|
|
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys)
|
rs1696175893
|
|
NM_000748.3(CHRNB2):c.1111_1118del (p.Glu371fs)
|
|
|
NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)
|
|
|
NM_000748.3(CHRNB2):c.1140A>G (p.Glu380=)
|
|
|
NM_000748.3(CHRNB2):c.1146A>C (p.Pro382=)
|
rs201986342
|
|
NM_000748.3(CHRNB2):c.1146A>T (p.Pro382=)
|
|
|
NM_000748.3(CHRNB2):c.1150G>A (p.Ala384Thr)
|
rs2101522239
|
|
NM_000748.3(CHRNB2):c.1152C>A (p.Ala384=)
|
rs746495548
|
|
NM_000748.3(CHRNB2):c.1169T>C (p.Phe390Ser)
|
rs2101522326
|
|
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu)
|
rs770055798
|
|
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys)
|
rs560427247
|
|
NM_000748.3(CHRNB2):c.1176C>T (p.Asn392=)
|
rs560427247
|
|
NM_000748.3(CHRNB2):c.1180G>A (p.Ala394Thr)
|
rs1557852162
|
|
NM_000748.3(CHRNB2):c.1182G>C (p.Ala394=)
|
rs1202541446
|
|
NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=)
|
|
|
NM_000748.3(CHRNB2):c.1185G>T (p.Ser395=)
|
rs2101522391
|
|
NM_000748.3(CHRNB2):c.1190A>C (p.Gln397Pro)
|
|
|
NM_000748.3(CHRNB2):c.1190A>G (p.Gln397Arg)
|
rs200441832
|
|
NM_000748.3(CHRNB2):c.1194G>A (p.Gly398=)
|
rs2101522454
|
|
NM_000748.3(CHRNB2):c.1194G>C (p.Gly398=)
|
rs2101522454
|
|
NM_000748.3(CHRNB2):c.1194G>T (p.Gly398=)
|
|
|
NM_000748.3(CHRNB2):c.1200C>G (p.Ala400=)
|
rs1020120934
|
|
NM_000748.3(CHRNB2):c.1210G>C (p.Gly404Arg)
|
|
|
NM_000748.3(CHRNB2):c.1215T>A (p.Ala405=)
|
|
|
NM_000748.3(CHRNB2):c.1215T>C (p.Ala405=)
|
|
|
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys)
|
rs1174834370
|
|
NM_000748.3(CHRNB2):c.1221T>A (p.Pro407=)
|
|
|
NM_000748.3(CHRNB2):c.1239C>G (p.Pro413=)
|
rs372757638
|
|
NM_000748.3(CHRNB2):c.123C>A (p.Arg41=)
|
rs201171352
|
|
NM_000748.3(CHRNB2):c.123C>T (p.Arg41=)
|
rs201171352
|
|
NM_000748.3(CHRNB2):c.1240G>A (p.Gly414Arg)
|
rs1024048381
|
|
NM_000748.3(CHRNB2):c.1240G>C (p.Gly414Arg)
|
rs1024048381
|
|
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=)
|
rs1553204404
|
|
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His)
|
rs971173003
|
|
NM_000748.3(CHRNB2):c.1244G>C (p.Arg415Pro)
|
|
|
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg)
|
rs1057520852
|
|
NM_000748.3(CHRNB2):c.1252G>T (p.Glu418Ter)
|
rs1375045864
|
|
NM_000748.3(CHRNB2):c.1256C>A (p.Pro419Gln)
|
rs908723251
|
|
NM_000748.3(CHRNB2):c.1257G>A (p.Pro419=)
|
rs199743038
|
|
NM_000748.3(CHRNB2):c.1270C>T (p.Leu424Phe)
|
rs2101522745
|
|
NM_000748.3(CHRNB2):c.1275G>C (p.Arg425=)
|
|
|
NM_000748.3(CHRNB2):c.1282G>A (p.Val428Met)
|
|
|
NM_000748.3(CHRNB2):c.1285G>A (p.Asp429Asn)
|
|
|
NM_000748.3(CHRNB2):c.1288G>C (p.Gly430Arg)
|
|
|
NM_000748.3(CHRNB2):c.1290C>T (p.Gly430=)
|
|
|
NM_000748.3(CHRNB2):c.1299C>T (p.Phe433=)
|
|
|
NM_000748.3(CHRNB2):c.129C>T (p.Asn43=)
|
|
|
NM_000748.3(CHRNB2):c.12C>G (p.Arg4=)
|
|
|
NM_000748.3(CHRNB2):c.1300A>T (p.Ile434Phe)
|
rs1171180526
|
|
NM_000748.3(CHRNB2):c.1316G>A (p.Arg439Gln)
|
|
|
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
|
|
|
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His)
|
rs1557852381
|
|
NM_000748.3(CHRNB2):c.1338+10G>T
|
rs903039235
|
|
NM_000748.3(CHRNB2):c.1338_1339insTGGA (p.Val447fs)
|
|
|
NM_000748.3(CHRNB2):c.1339-15G>A
|
rs756629260
|
|
NM_000748.3(CHRNB2):c.1341G>T (p.Val447=)
|
|
|
NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)
|
|
|
NM_000748.3(CHRNB2):c.1343G>T (p.Ser448Ile)
|
rs774575734
|
|
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs)
|
rs1696260248
|
|
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter)
|
rs761717685
|
|
NM_000748.3(CHRNB2):c.1362C>T (p.Val454=)
|
|
|
NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)
|
|
|
NM_000748.3(CHRNB2):c.1365C>T (p.Ala455=)
|
rs1374756061
|
|
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val)
|
rs751272610
|
|
NM_000748.3(CHRNB2):c.1374C>T (p.Ile458=)
|
|
|
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)
|
rs202079239
|
|
NM_000748.3(CHRNB2):c.1378C>T (p.Arg460Cys)
|
rs202079239
|
|
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His)
|
rs1297214421
|
|
NM_000748.3(CHRNB2):c.1382T>C (p.Leu461Pro)
|
rs1696261435
|
|
NM_000748.3(CHRNB2):c.138C>T (p.Ile46=)
|
rs775128215
|
|
NM_000748.3(CHRNB2):c.1395C>T (p.Ile465=)
|
|
|
NM_000748.3(CHRNB2):c.13T>C (p.Cys5Arg)
|
|
|
NM_000748.3(CHRNB2):c.13T>G (p.Cys5Gly)
|
rs1261047629
|
|
NM_000748.3(CHRNB2):c.1400T>C (p.Val467Ala)
|
|
|
NM_000748.3(CHRNB2):c.1402T>C (p.Phe468Leu)
|
|
|
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs)
|
rs796052332
|
|
NM_000748.3(CHRNB2):c.1417G>A (p.Gly473Ser)
|
rs1696262468
|
|
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val)
|
rs202135710
|
|
NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)
|
|
|
NM_000748.3(CHRNB2):c.1430T>C (p.Met477Thr)
|
|
|
NM_000748.3(CHRNB2):c.1434C>A (p.Phe478Leu)
|
|
|
NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)
|
|
|
NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)
|
|
|
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu)
|
rs1696263260
|
|
NM_000748.3(CHRNB2):c.1451A>G (p.Gln484Arg)
|
rs1275049751
|
|
NM_000748.3(CHRNB2):c.1458C>T (p.Tyr486=)
|
|
|
NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)
|
|
|
NM_000748.3(CHRNB2):c.1470C>T (p.Thr490=)
|
|
|
NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)
|
|
|
NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)
|
|
|
NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)
|
|
|
NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)
|
|
|
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser)
|
rs762363770
|
|
NM_000748.3(CHRNB2):c.14G>C (p.Cys5Ser)
|
rs2149365741
|
|
NM_000748.3(CHRNB2):c.1503C>G (p.Ser501=)
|
|
|
NM_000748.3(CHRNB2):c.152A>G (p.Asn51Ser)
|
|
|
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser)
|
rs1553204015
|
|
NM_000748.3(CHRNB2):c.166G>C (p.Val56Leu)
|
|
|
NM_000748.3(CHRNB2):c.16_31dup (p.Leu11fs)
|
|
|
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter)
|
rs1696125297
|
|
NM_000748.3(CHRNB2):c.177G>A (p.Gln59=)
|
|
|
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)
|
rs1304588530
|
|
NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)
|
|
|
NM_000748.3(CHRNB2):c.1A>G (p.Met1Val)
|
|
|
NM_000748.3(CHRNB2):c.1A>T (p.Met1Leu)
|
rs2149365728
|
|
NM_000748.3(CHRNB2):c.210+18del
|
|
|
NM_000748.3(CHRNB2):c.210+3G>A
|
rs1571020415
|
|
NM_000748.3(CHRNB2):c.211-15T>C
|
|
|
NM_000748.3(CHRNB2):c.211-3C>A
|
|
|
NM_000748.3(CHRNB2):c.211-6C>T
|
|
|
NM_000748.3(CHRNB2):c.211-7C>A
|
|
|
NM_000748.3(CHRNB2):c.211-8C>T
|
|
|
NM_000748.3(CHRNB2):c.21C>G (p.Pro7=)
|
rs769654213
|
|
NM_000748.3(CHRNB2):c.21del (p.Val8fs)
|
rs2149365744
|
|
NM_000748.3(CHRNB2):c.223C>G (p.Gln75Glu)
|
rs2149366248
|
|
NM_000748.3(CHRNB2):c.22G>C (p.Val8Leu)
|
rs772815972
|
|
NM_000748.3(CHRNB2):c.240T>C (p.Asn80=)
|
rs1571020620
|
|
NM_000748.3(CHRNB2):c.247C>T (p.Leu83=)
|
|
|
NM_000748.3(CHRNB2):c.255+13G>A
|
|
|
NM_000748.3(CHRNB2):c.255+16C>T
|
|
|
NM_000748.3(CHRNB2):c.255+7G>A
|
rs190374968
|
|
NM_000748.3(CHRNB2):c.255+7G>C
|
rs190374968
|
|
NM_000748.3(CHRNB2):c.256-10C>G
|
rs1696137209
|
|
NM_000748.3(CHRNB2):c.256-10C>T
|
rs1696137209
|
|
NM_000748.3(CHRNB2):c.256-15T>C
|
|
|
NM_000748.3(CHRNB2):c.256-17C>A
|
|
|
NM_000748.3(CHRNB2):c.262G>A (p.Glu88Lys)
|
rs1182581432
|
|
NM_000748.3(CHRNB2):c.27G>T (p.Ala9=)
|
|
|
NM_000748.3(CHRNB2):c.281G>C (p.Trp94Ser)
|
rs2101518911
|
|
NM_000748.3(CHRNB2):c.297del (p.Phe99fs)
|
rs1696138351
|
|
NM_000748.3(CHRNB2):c.2T>A (p.Met1Lys)
|
rs1430279652
|
|
NM_000748.3(CHRNB2):c.301A>C (p.Asn101His)
|
rs929185848
|
|
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp)
|
rs929185848
|
|
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile)
|
rs1696138605
|
|
NM_000748.3(CHRNB2):c.313G>A (p.Val105Ile)
|
|
|
NM_000748.3(CHRNB2):c.315T>C (p.Val105=)
|
rs1571020906
|
|
NM_000748.3(CHRNB2):c.318G>A (p.Arg106=)
|
rs1571020924
|
|
NM_000748.3(CHRNB2):c.321C>T (p.Leu107=)
|
|
|
NM_000748.3(CHRNB2):c.333C>T (p.His111=)
|
|
|
NM_000748.3(CHRNB2):c.33C>G (p.Leu11=)
|
rs927757182
|
|
NM_000748.3(CHRNB2):c.33C>T (p.Leu11=)
|
rs927757182
|
|
NM_000748.3(CHRNB2):c.344C>T (p.Pro115Leu)
|
rs2101519039
|
|
NM_000748.3(CHRNB2):c.360C>T (p.Tyr120=)
|
rs867870791
|
|
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del)
|
rs796052329
|
|
NM_000748.3(CHRNB2):c.365+13G>A
|
|
|
NM_000748.3(CHRNB2):c.365+19T>C
|
|
|
NM_000748.3(CHRNB2):c.365+2T>C
|
rs1440177267
|
|
NM_000748.3(CHRNB2):c.366T>C (p.Asn122=)
|
rs748227150
|
|
NM_000748.3(CHRNB2):c.393C>T (p.Phe131=)
|
|
|
NM_000748.3(CHRNB2):c.401A>G (p.Asn134Ser)
|
|
|
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys)
|
rs760458701
|
|
NM_000748.3(CHRNB2):c.402T>C (p.Asn134=)
|
rs760458701
|
|
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val)
|
rs1060502835
|
|
NM_000748.3(CHRNB2):c.405C>G (p.Ala135=)
|
rs777250519
|
|
NM_000748.3(CHRNB2):c.410T>G (p.Val137Gly)
|
|
|
NM_000748.3(CHRNB2):c.411C>T (p.Val137=)
|
|
|
NM_000748.3(CHRNB2):c.416A>G (p.Tyr139Cys)
|
|
|
NM_000748.3(CHRNB2):c.423C>T (p.Gly141=)
|
rs1696159240
|
|
NM_000748.3(CHRNB2):c.42C>T (p.Phe14=)
|
rs770555906
|
|
NM_000748.3(CHRNB2):c.441G>A (p.Pro147=)
|
rs780464481
|
|
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val)
|
rs1557851437
|
|
NM_000748.3(CHRNB2):c.456G>A (p.Lys152=)
|
rs2101520375
|
|
NM_000748.3(CHRNB2):c.462A>G (p.Ala154=)
|
|
|
NM_000748.3(CHRNB2):c.466A>G (p.Lys156Glu)
|
|
|
NM_000748.3(CHRNB2):c.470T>A (p.Ile157Asn)
|
|
|
NM_000748.3(CHRNB2):c.481C>T (p.His161Tyr)
|
rs1282479699
|
|
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser)
|
rs1696160348
|
|
NM_000748.3(CHRNB2):c.498G>A (p.Gln166=)
|
rs2101520429
|
|
NM_000748.3(CHRNB2):c.4G>T (p.Ala2Ser)
|
rs2149365730
|
|
NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)
|
|
|
NM_000748.3(CHRNB2):c.520dup (p.Arg174fs)
|
|
|
NM_000748.3(CHRNB2):c.524C>G (p.Ser175Trp)
|
rs75760566
|
|
NM_000748.3(CHRNB2):c.531C>A (p.Thr177=)
|
rs2101520486
|
|
NM_000748.3(CHRNB2):c.534C>T (p.Tyr178=)
|
rs1211673895
|
|
NM_000748.3(CHRNB2):c.535G>A (p.Asp179Asn)
|
rs760490640
|
|
NM_000748.3(CHRNB2):c.539G>C (p.Arg180Pro)
|
rs768297928
|
|
NM_000748.3(CHRNB2):c.544del (p.Glu182fs)
|
|
|
NM_000748.3(CHRNB2):c.549C>A (p.Ile183=)
|
rs776372933
|
|
NM_000748.3(CHRNB2):c.549C>T (p.Ile183=)
|
rs776372933
|
|
NM_000748.3(CHRNB2):c.54G>A (p.Arg18=)
|
|
|
NM_000748.3(CHRNB2):c.54G>T (p.Arg18=)
|
rs1486696741
|
|
NM_000748.3(CHRNB2):c.554T>C (p.Leu185Ser)
|
rs1696161618
|
|
NM_000748.3(CHRNB2):c.571G>T (p.Val191Leu)
|
rs2101520587
|
|
NM_000748.3(CHRNB2):c.578G>T (p.Ser193Ile)
|
rs2101520597
|
|
NM_000748.3(CHRNB2):c.57G>A (p.Leu19=)
|
rs2149365770
|
|
NM_000748.3(CHRNB2):c.58T>C (p.Cys20Arg)
|
|
|
NM_000748.3(CHRNB2):c.593C>T (p.Thr198Ile)
|
|
|
NM_000748.3(CHRNB2):c.599G>A (p.Ser200Asn)
|
|
|
NM_000748.3(CHRNB2):c.60C>T (p.Cys20=)
|
|
|
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly)
|
rs201622476
|
|
NM_000748.3(CHRNB2):c.622C>T (p.Leu208=)
|
rs906389720
|
|
NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)
|
|
|
NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)
|
|
|
NM_000748.3(CHRNB2):c.64+13C>T
|
|
|
NM_000748.3(CHRNB2):c.64+17C>T
|
|
|
NM_000748.3(CHRNB2):c.64+3A>G
|
|
|
NM_000748.3(CHRNB2):c.64+9A>G
|
|
|
NM_000748.3(CHRNB2):c.645C>T (p.Asn215=)
|
|
|
NM_000748.3(CHRNB2):c.648C>G (p.Pro216=)
|
rs370886747
|
|
NM_000748.3(CHRNB2):c.648del (p.Asp217fs)
|
rs2101520745
|
|
NM_000748.3(CHRNB2):c.649G>A (p.Asp217Asn)
|
|
|
NM_000748.3(CHRNB2):c.65-2A>G
|
|
|
NM_000748.3(CHRNB2):c.65-2del
|
rs1696121118
|
|
NM_000748.3(CHRNB2):c.652G>A (p.Asp218Asn)
|
rs1429118769
|
|
NM_000748.3(CHRNB2):c.653A>C (p.Asp218Ala)
|
rs2101520790
|
|
NM_000748.3(CHRNB2):c.65G>A (p.Gly22Glu)
|
|
|
NM_000748.3(CHRNB2):c.660G>A (p.Thr220=)
|
|
|
NM_000748.3(CHRNB2):c.663C>T (p.Tyr221=)
|
|
|
NM_000748.3(CHRNB2):c.664G>C (p.Val222Leu)
|
rs1453075590
|
|
NM_000748.3(CHRNB2):c.674C>G (p.Thr225Arg)
|
rs201952018
|
|
NM_000748.3(CHRNB2):c.675G>A (p.Thr225=)
|
rs994716085
|
|
NM_000748.3(CHRNB2):c.675G>C (p.Thr225=)
|
rs994716085
|
|
NM_000748.3(CHRNB2):c.678T>C (p.Tyr226=)
|
rs1473412414
|
|
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met)
|
rs1244782091
|
|
NM_000748.3(CHRNB2):c.690T>C (p.Ile230=)
|
rs2101520893
|
|
NM_000748.3(CHRNB2):c.693C>G (p.Arg231=)
|
rs2101520907
|
|
NM_000748.3(CHRNB2):c.69G>A (p.Val23=)
|
rs1696121294
|
|
NM_000748.3(CHRNB2):c.701C>T (p.Pro234Leu)
|
|
|
NM_000748.3(CHRNB2):c.702G>A (p.Pro234=)
|
rs200050755
|
|
NM_000748.3(CHRNB2):c.708C>T (p.Phe236=)
|
rs71628622
|
|
NM_000748.3(CHRNB2):c.726C>T (p.Ile242=)
|
|
|
NM_000748.3(CHRNB2):c.732_733del (p.Val246fs)
|
rs2101520989
|
|
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr)
|
rs2101521069
|
|
NM_000748.3(CHRNB2):c.756C>T (p.Ala252=)
|
|
|
NM_000748.3(CHRNB2):c.785G>A (p.Cys262Tyr)
|
|
|
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=)
|
rs143402032
|
|
NM_000748.3(CHRNB2):c.78G>T (p.Thr26=)
|
|
|
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys)
|
rs1212070745
|
|
NM_000748.3(CHRNB2):c.791AGA[1] (p.Lys265del)
|
|
|
NM_000748.3(CHRNB2):c.796A>T (p.Met266Leu)
|
rs2101521127
|
|
NM_000748.3(CHRNB2):c.801G>A (p.Thr267=)
|
rs200331379
|
|
NM_000748.3(CHRNB2):c.801G>C (p.Thr267=)
|
|
|
NM_000748.3(CHRNB2):c.806_807delinsAA (p.Cys269Ter)
|
|
|
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
|
|
|
NM_000748.3(CHRNB2):c.819G>C (p.Leu273=)
|
rs745793301
|
|
NM_000748.3(CHRNB2):c.820del (p.Leu274fs)
|
|
|
NM_000748.3(CHRNB2):c.824C>T (p.Ala275Val)
|
rs201393088
|
|
NM_000748.3(CHRNB2):c.82A>G (p.Thr28Ala)
|
rs2149366120
|
|
NM_000748.3(CHRNB2):c.833T>C (p.Val278Ala)
|
rs2101521195
|
|
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe)
|
rs1387572771
|
|
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His)
|
rs1696167453
|
|
NM_000748.3(CHRNB2):c.846C>T (p.Leu282=)
|
rs1322383536
|
|
NM_000748.3(CHRNB2):c.847A>T (p.Ile283Phe)
|
rs1388744144
|
|
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs)
|
rs2101521229
|
|
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)
|
rs74315291
|
|
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu)
|
rs74315291
|
|
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
|
|
|
NM_000748.3(CHRNB2):c.859_867del (p.Val287_Pro289del)
|
rs2101521275
|
|
NM_000748.3(CHRNB2):c.863C>T (p.Pro288Leu)
|
|
|
NM_000748.3(CHRNB2):c.877G>A (p.Asp293Asn)
|
|
|
NM_000748.3(CHRNB2):c.880G>A (p.Val294Met)
|
|
|
NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)
|
|
|
NM_000748.3(CHRNB2):c.885G>A (p.Pro295=)
|
|
|
NM_000748.3(CHRNB2):c.893G>A (p.Gly298Asp)
|
rs868235334
|
|
NM_000748.3(CHRNB2):c.893G>T (p.Gly298Val)
|
rs868235334
|
|
NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)
|
|
|
NM_000748.3(CHRNB2):c.918G>A (p.Val306=)
|
|
|
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile)
|
rs200720061
|
|
NM_000748.3(CHRNB2):c.91C>A (p.Arg31=)
|
rs145926853
|
|
NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)
|
|
|
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala)
|
rs281865070
|
|
NM_000748.3(CHRNB2):c.929T>A (p.Phe310Tyr)
|
rs2101521485
|
|
NM_000748.3(CHRNB2):c.930del (p.Ser311fs)
|
rs1696170002
|
|
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile)
|
rs770557644
|
|
NM_000748.3(CHRNB2):c.946G>T (p.Val316Leu)
|
|
|
NM_000748.3(CHRNB2):c.951C>T (p.Cys317=)
|
|
|
NM_000748.3(CHRNB2):c.953T>C (p.Val318Ala)
|
rs2101521543
|
|
NM_000748.3(CHRNB2):c.955C>G (p.Leu319Val)
|
|
|
NM_000748.3(CHRNB2):c.960C>A (p.Asn320Lys)
|
|
|
NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)
|
|
|
NM_000748.3(CHRNB2):c.970C>T (p.Arg324Cys)
|
|
|
NM_000748.3(CHRNB2):c.971_972delinsTA (p.Arg324Leu)
|
|
|
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu)
|
rs1571022546
|
|
NM_000748.3(CHRNB2):c.977C>T (p.Pro326Leu)
|
|
|
NM_000748.3(CHRNB2):c.984G>C (p.Thr328=)
|
|
|
NM_000748.3(CHRNB2):c.990C>A (p.Thr330=)
|
|
|
NM_000748.3(CHRNB2):c.996G>A (p.Ala332=)
|
rs762184252
|
|
NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs)
|
rs2092986219
|
|
NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer)
|
rs2149449670
|
|
NM_003114.5(SPAG1):c.2542del (p.Asp848fs)
|
rs886037653
|
|
NM_003114.5(SPAG1):c.679G>T (p.Glu227Ter)
|
rs397518459
|
|
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
|
|
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)
|
rs1057520498
|
|
NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn)
|
rs1765173859
|
|