NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly)
|
rs6504191
|
0.91477
|
NM_000080.4(CHRNE):c.*745G>A
|
rs1053751
|
0.82079
|
NM_000334.4(SCN4A):c.*710T>C
|
rs2532111
|
0.67728
|
NM_001244710.2(GFPT1):c.*3065G>A
|
rs7568296
|
0.67342
|
NM_001244710.2(GFPT1):c.*5001G>A
|
rs13396883
|
0.66919
|
NM_001244710.2(GFPT1):c.*3285A>G
|
rs7579532
|
0.66906
|
NM_001244710.2(GFPT1):c.*6085C>G
|
rs7642
|
0.66555
|
NM_001244710.2(GFPT1):c.*2269A>G
|
rs10198171
|
0.66442
|
NM_001244710.2(GFPT1):c.*4059A>G
|
rs13751
|
0.65899
|
NM_001244710.2(GFPT1):c.1105+7A>G
|
rs6722492
|
0.65895
|
NM_001244710.2(GFPT1):c.*3091A>C
|
rs7582334
|
0.65873
|
NM_001244710.2(GFPT1):c.*2669C>T
|
rs10185336
|
0.65232
|
NM_001244710.2(GFPT1):c.*800G>T
|
rs2667
|
0.65228
|
NM_001244710.2(GFPT1):c.*2310A>G
|
rs10198150
|
0.65225
|
NM_001244710.2(GFPT1):c.*4730G>A
|
rs28694003
|
0.65218
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp)
|
rs2058194
|
0.59717
|
NM_005677.4(COLQ):c.*344C>T
|
rs2278961
|
0.46594
|
NM_000080.4(CHRNE):c.*144T>C
|
rs12936083
|
0.46557
|
NM_000751.3(CHRND):c.12A>G (p.Pro4=)
|
rs2245601
|
0.45730
|
NM_005677.4(COLQ):c.*365A>T
|
rs2278962
|
0.44285
|
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=)
|
rs2070720
|
0.43390
|
NM_005677.4(COLQ):c.*1001G>A
|
rs3846128
|
0.37381
|
NM_000080.4(CHRNE):c.*868G>T
|
rs7774
|
0.36651
|
NM_000751.3(CHRND):c.*885T>C
|
rs1004175
|
0.34980
|
NM_000751.3(CHRND):c.*52A>G
|
rs2767
|
0.34088
|
NM_000080.4(CHRNE):c.*837A>G
|
rs8834
|
0.34040
|
NM_000334.4(SCN4A):c.3318+12C>A
|
rs13341114
|
0.26769
|
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly)
|
rs17856697
|
0.24673
|
NM_000080.4(CHRNE):c.*437G>C
|
rs3514
|
0.19221
|
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)
|
rs33978919
|
0.18524
|
NM_000334.4(SCN4A):c.*1427T>C
|
rs2727278
|
0.18159
|
NM_000334.4(SCN4A):c.*1271T>A
|
rs2727277
|
0.18122
|
NM_000080.4(CHRNE):c.*61C>T
|
rs12940036
|
0.17963
|
NM_000334.4(SCN4A):c.*22A>G
|
rs2228995
|
0.17899
|
NM_000747.3(CHRNB1):c.*68T>C
|
rs2302764
|
0.17079
|
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)
|
rs56342400
|
0.16783
|
NM_000747.3(CHRNB1):c.610+6T>C
|
rs2302765
|
0.16463
|
NM_005592.4(MUSK):c.402G>A (p.Glu134=)
|
rs10980531
|
0.16445
|
NM_000080.4(CHRNE):c.917+15C>G
|
rs12942540
|
0.16257
|
NM_000747.3(CHRNB1):c.*281T>C
|
rs3855924
|
0.16205
|
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=)
|
rs2227906
|
0.15916
|
NM_000080.4(CHRNE):c.*906G>C
|
rs9914357
|
0.15504
|
NM_005592.4(MUSK):c.537C>T (p.Asn179=)
|
rs41279051
|
0.13243
|
NM_001244710.2(GFPT1):c.*4826A>C
|
rs67016706
|
0.12917
|
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=)
|
rs2227907
|
0.12581
|
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly)
|
rs35176182
|
0.12204
|
NM_005055.5(RAPSN):c.193-15C>T
|
rs45547231
|
0.11254
|
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
|
rs45603036
|
0.10742
|
NM_005055.5(RAPSN):c.*57C>T
|
rs45617144
|
0.10726
|
NM_005677.4(COLQ):c.-46G>A
|
rs73033051
|
0.09699
|
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile)
|
rs2274419
|
0.09566
|
NM_000079.4(CHRNA1):c.960C>T (p.His320=)
|
rs2229957
|
0.08849
|
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
|
rs34312154
|
0.08810
|
NM_000334.4(SCN4A):c.*563G>A
|
rs2532112
|
0.08626
|
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=)
|
rs79893125
|
0.08466
|
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=)
|
rs55681486
|
0.07419
|
NM_000080.4(CHRNE):c.*65C>T
|
rs56067981
|
0.07414
|
NM_000751.3(CHRND):c.1047+9T>C
|
rs3762528
|
0.07349
|
NM_000080.4(CHRNE):c.345-7C>T
|
rs72835059
|
0.07330
|
NM_000334.4(SCN4A):c.*1737A>G
|
rs16947276
|
0.06978
|
NM_005677.4(COLQ):c.*515C>T
|
rs10154896
|
0.06822
|
NM_000080.4(CHRNE):c.1033-6C>T
|
rs2075763
|
0.06582
|
NM_000751.3(CHRND):c.*424C>T
|
rs4973046
|
0.06579
|
NM_000334.4(SCN4A):c.864C>T (p.Asn288=)
|
rs7218917
|
0.06188
|
NM_000334.4(SCN4A):c.*1357A>G
|
rs113012761
|
0.05971
|
NM_000334.4(SCN4A):c.*122G>A
|
rs2228997
|
0.05774
|
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly)
|
rs6782980
|
0.05224
|
NM_005677.4(COLQ):c.366+7A>G
|
rs750387
|
0.04329
|
NM_000334.4(SCN4A):c.366C>T (p.Arg122=)
|
rs41280108
|
0.04121
|
NM_000080.4(CHRNE):c.519C>T (p.Ala173=)
|
rs33970119
|
0.03958
|
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)
|
rs16947296
|
0.03818
|
NM_000080.4(CHRNE):c.-8G>A
|
rs77481135
|
0.03561
|
NM_000080.4(CHRNE):c.*37G>A
|
rs2229199
|
0.03523
|
NM_000751.3(CHRND):c.120G>A (p.Lys40=)
|
rs55921262
|
0.03225
|
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=)
|
rs73992419
|
0.03148
|
NM_000334.4(SCN4A):c.4288+10G>T
|
rs114059193
|
0.03137
|
NM_000080.4(CHRNE):c.*43T>C
|
rs2229200
|
0.03101
|
NM_000080.4(CHRNE):c.*930T>G
|
rs116802199
|
0.02701
|
NM_000751.3(CHRND):c.*1025A>G
|
rs115132742
|
0.02647
|
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)
|
rs4790235
|
0.02635
|
NM_001244710.2(GFPT1):c.*2510A>T
|
rs61159728
|
0.02619
|
NM_005677.4(COLQ):c.556-15A>G
|
rs57376327
|
0.02543
|
NM_001244710.2(GFPT1):c.*1244G>T
|
rs73937246
|
0.02428
|
NM_001244710.2(GFPT1):c.*6094C>T
|
rs55888680
|
0.02423
|
NM_005677.4(COLQ):c.1248C>T (p.Asp416=)
|
rs55866379
|
0.02373
|
NM_005592.4(MUSK):c.225C>T (p.Tyr75=)
|
rs56130155
|
0.02312
|
NM_000334.4(SCN4A):c.3720+10A>G
|
rs111679484
|
0.02281
|
NM_005592.4(MUSK):c.299C>T (p.Thr100Met)
|
rs35142681
|
0.02176
|
NM_000334.4(SCN4A):c.*1611A>G
|
rs16947280
|
0.02126
|
NM_000334.4(SCN4A):c.2989+5G>A
|
rs115695396
|
0.02066
|
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)
|
rs6739001
|
0.02064
|
NM_000080.4(CHRNE):c.45C>T (p.Leu15=)
|
rs34563587
|
0.02026
|
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=)
|
rs72851170
|
0.01961
|
NM_000079.4(CHRNA1):c.540+4G>C
|
rs112674580
|
0.01914
|
NM_005055.5(RAPSN):c.*207C>A
|
rs73459751
|
0.01891
|
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)
|
rs57878668
|
0.01874
|
NM_000334.4(SCN4A):c.726C>T (p.Ala242=)
|
rs73326368
|
0.01791
|
NM_000334.4(SCN4A):c.4017+15G>T
|
rs77844100
|
0.01755
|
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=)
|
rs2230300
|
0.01692
|
NM_000334.4(SCN4A):c.*1368G>C
|
rs113385942
|
0.01686
|
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=)
|
rs59081944
|
0.01571
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_005592.4(MUSK):c.-82T>C
|
rs41279047
|
0.01527
|
NM_000334.4(SCN4A):c.*332C>T
|
rs77962116
|
0.01507
|
NM_000747.3(CHRNB1):c.821-9C>T
|
rs76001008
|
0.01413
|
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=)
|
rs76894284
|
0.01359
|
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)
|
rs34625105
|
0.01344
|
NM_000751.3(CHRND):c.*149A>G
|
rs114315112
|
0.01306
|
NM_001244710.2(GFPT1):c.*2685A>G
|
rs74972420
|
0.01293
|
NM_001244710.2(GFPT1):c.*2219C>T
|
rs149217357
|
0.01291
|
NM_000080.4(CHRNE):c.*610C>T
|
rs144554248
|
0.01282
|
NM_001244710.2(GFPT1):c.408+7A>T
|
rs112682152
|
0.01229
|
NM_001244710.2(GFPT1):c.*603G>A
|
rs78097440
|
0.01222
|
NM_001244710.2(GFPT1):c.*1085A>G
|
rs75177078
|
0.01153
|
NM_001244710.2(GFPT1):c.*4053T>A
|
rs4128250
|
0.01067
|
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr)
|
rs76927517
|
0.01042
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=)
|
rs78952091
|
0.00975
|
NM_000334.4(SCN4A):c.*1989C>T
|
rs77615646
|
0.00968
|
NM_005677.4(COLQ):c.*492G>A
|
rs116231717
|
0.00917
|
NM_005677.4(COLQ):c.291G>A (p.Ser97=)
|
rs115201284
|
0.00908
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_000334.4(SCN4A):c.489C>G (p.Thr163=)
|
rs146590697
|
0.00848
|
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)
|
rs114454383
|
0.00816
|
NM_005055.5(RAPSN):c.-72C>T
|
rs117947983
|
0.00803
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
NM_000079.4(CHRNA1):c.*426C>A
|
rs115375214
|
0.00774
|
NM_000334.4(SCN4A):c.3720+9G>T
|
rs9303466
|
0.00769
|
NM_000334.4(SCN4A):c.*1088A>G
|
rs77725962
|
0.00759
|
NM_000334.4(SCN4A):c.3441+7G>A
|
rs142270113
|
0.00738
|
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=)
|
rs116469710
|
0.00716
|
NM_000334.4(SCN4A):c.*1215G>A
|
rs112758825
|
0.00696
|
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His)
|
rs79843573
|
0.00659
|
NM_001244710.2(GFPT1):c.*4403G>T
|
rs148687340
|
0.00642
|
NM_001244710.2(GFPT1):c.*6366T>C
|
rs115964031
|
0.00633
|
NM_005677.4(COLQ):c.393+11C>T
|
rs909353
|
0.00630
|
NM_000079.4(CHRNA1):c.*218C>T
|
rs79539026
|
0.00579
|
NM_001244710.2(GFPT1):c.*2511T>A
|
rs60949141
|
0.00572
|
NM_005677.4(COLQ):c.*994G>A
|
rs77521642
|
0.00563
|
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)
|
rs61737716
|
0.00561
|
NM_005055.5(RAPSN):c.193-14G>A
|
rs114738594
|
0.00529
|
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln)
|
rs111926172
|
0.00509
|
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu)
|
rs112142736
|
0.00506
|
NM_000079.4(CHRNA1):c.*499A>T
|
rs574135903
|
0.00488
|
NM_000080.4(CHRNE):c.*6A>G
|
rs55806270
|
0.00487
|
NM_001244710.2(GFPT1):c.*169C>T
|
rs6729690
|
0.00459
|
NM_001244710.2(GFPT1):c.*6003G>T
|
rs143649075
|
0.00416
|
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)
|
rs148304857
|
0.00413
|
NM_000747.3(CHRNB1):c.342G>A (p.Val114=)
|
rs75019736
|
0.00411
|
NM_000747.3(CHRNB1):c.1045-6C>G
|
rs79209506
|
0.00404
|
NM_000334.4(SCN4A):c.*129G>T
|
rs140026321
|
0.00401
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_001244710.2(GFPT1):c.*867G>A
|
rs72905155
|
0.00389
|
NM_001244710.2(GFPT1):c.*2364C>T
|
rs182934478
|
0.00379
|
NM_001244710.2(GFPT1):c.*2916A>G
|
rs114138715
|
0.00379
|
NM_001244710.2(GFPT1):c.*666T>C
|
rs543343212
|
0.00376
|
NM_000751.3(CHRND):c.*1240T>C
|
rs77032539
|
0.00369
|
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln)
|
rs111858905
|
0.00367
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)
|
rs72905825
|
0.00337
|
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu)
|
rs55786136
|
0.00337
|
NM_001244710.2(GFPT1):c.*2428G>A
|
rs191588030
|
0.00321
|
NM_001244710.2(GFPT1):c.*1053G>A
|
rs535434783
|
0.00308
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_005592.4(MUSK):c.80-8C>T
|
rs199705752
|
0.00301
|
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)
|
rs77084550
|
0.00300
|
NM_000080.4(CHRNE):c.1220-5G>A
|
rs188564977
|
0.00287
|
NM_000747.3(CHRNB1):c.-13G>C
|
rs199903026
|
0.00278
|
NM_000080.4(CHRNE):c.918-6C>G
|
rs141408756
|
0.00277
|
NM_005055.5(RAPSN):c.*211G>A
|
rs542424704
|
0.00276
|
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
|
rs139945437
|
0.00271
|
NM_000080.4(CHRNE):c.*805T>G
|
rs113366718
|
0.00265
|
NM_000751.3(CHRND):c.414C>T (p.Phe138=)
|
rs150208750
|
0.00265
|
NM_000334.4(SCN4A):c.*1324T>C
|
rs544883913
|
0.00256
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
NM_001244710.2(GFPT1):c.*4259C>T
|
rs186353485
|
0.00253
|
NM_005677.4(COLQ):c.789G>A (p.Pro263=)
|
rs150061580
|
0.00251
|
NM_000747.3(CHRNB1):c.*18C>T
|
rs79747991
|
0.00247
|
NM_001244710.2(GFPT1):c.*2368C>T
|
rs572137795
|
0.00247
|
NM_001244710.2(GFPT1):c.*4944A>G
|
rs112572296
|
0.00246
|
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu)
|
rs192195094
|
0.00240
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_000334.4(SCN4A):c.*1828A>G
|
rs79003915
|
0.00233
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_000079.4(CHRNA1):c.-37A>G
|
rs182459320
|
0.00217
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
NM_000751.3(CHRND):c.*145C>G
|
rs530039427
|
0.00216
|
NM_000334.4(SCN4A):c.1100+7G>A
|
rs200770684
|
0.00212
|
NM_000751.3(CHRND):c.*942C>T
|
rs571263995
|
0.00210
|
NM_001244710.2(GFPT1):c.*4274A>T
|
rs142243075
|
0.00210
|
NM_005592.4(MUSK):c.666T>C (p.Asn222=)
|
rs56044404
|
0.00208
|
NM_005592.4(MUSK):c.914-14T>G
|
rs146206123
|
0.00207
|
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
|
rs151193377
|
0.00197
|
NM_000747.3(CHRNB1):c.*287C>T
|
rs548074838
|
0.00197
|
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys)
|
rs117664682
|
0.00186
|
NM_000080.4(CHRNE):c.*267C>T
|
rs551251860
|
0.00185
|
NM_000079.4(CHRNA1):c.*461A>T
|
rs542750994
|
0.00179
|
NM_001244710.2(GFPT1):c.*3781G>T
|
rs116952694
|
0.00177
|
NM_153827.5(MINK1):c.*594G>A
|
rs575836707
|
0.00177
|
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)
|
rs114463490
|
0.00175
|
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=)
|
rs141215137
|
0.00153
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_000747.3(CHRNB1):c.*31C>T
|
rs75282248
|
0.00145
|
NM_000751.3(CHRND):c.*365C>A
|
rs112940737
|
0.00145
|
NM_000747.3(CHRNB1):c.243+14A>G
|
rs376387886
|
0.00138
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
NM_000751.3(CHRND):c.*1189G>C
|
rs556909638
|
0.00136
|
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)
|
rs201148948
|
0.00134
|
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)
|
rs145456588
|
0.00133
|
NM_000334.4(SCN4A):c.2854-5C>T
|
rs374039266
|
0.00133
|
NM_000080.4(CHRNE):c.918-14T>C
|
rs375376258
|
0.00131
|
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser)
|
rs189427175
|
0.00131
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
NM_000334.4(SCN4A):c.*552A>G
|
rs533628539
|
0.00124
|
NM_000747.3(CHRNB1):c.1044+9G>A
|
rs143871421
|
0.00123
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile)
|
rs200947169
|
0.00117
|
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)
|
rs55826142
|
0.00116
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)
|
rs372791798
|
0.00112
|
NM_153827.5(MINK1):c.*701C>T
|
rs536398300
|
0.00111
|
NM_000334.4(SCN4A):c.*2170G>A
|
rs569759069
|
0.00108
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
NM_005592.4(MUSK):c.1941C>T (p.Val647=)
|
rs200312379
|
0.00108
|
NM_000334.4(SCN4A):c.*2150C>A
|
rs182791237
|
0.00105
|
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)
|
rs371914255
|
0.00105
|
NM_005592.4(MUSK):c.1683G>A (p.Leu561=)
|
rs192173278
|
0.00105
|
NM_000334.4(SCN4A):c.*2072G>A
|
rs192346663
|
0.00099
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
NM_000747.3(CHRNB1):c.*433A>G
|
rs150545965
|
0.00093
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
NM_000080.4(CHRNE):c.*858G>C
|
rs375660349
|
0.00090
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_000334.4(SCN4A):c.*64G>A
|
rs753971558
|
0.00080
|
NM_005592.4(MUSK):c.1779-7C>T
|
rs114362384
|
0.00072
|
NM_001244710.2(GFPT1):c.224-12C>T
|
rs375455794
|
0.00070
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
NM_000080.4(CHRNE):c.*902C>T
|
rs369145199
|
0.00069
|
NM_000080.4(CHRNE):c.*903G>A
|
rs549064723
|
0.00069
|
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)
|
rs139398367
|
0.00067
|
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)
|
rs35810986
|
0.00065
|
NM_005592.4(MUSK):c.1719T>C (p.Asn573=)
|
rs373118888
|
0.00064
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_000079.4(CHRNA1):c.*411G>A
|
rs560280191
|
0.00057
|
NM_000751.3(CHRND):c.1253-9C>T
|
rs2853458
|
0.00057
|
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)
|
rs149726115
|
0.00056
|
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser)
|
rs148533702
|
0.00056
|
NM_001244710.2(GFPT1):c.*2509A>T
|
rs866089468
|
0.00055
|
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)
|
rs146899588
|
0.00054
|
NM_001244710.2(GFPT1):c.*1425C>T
|
rs781269204
|
0.00054
|
NM_000334.4(SCN4A):c.5274C>T (p.His1758=)
|
rs113418988
|
0.00051
|
NM_000751.3(CHRND):c.*290G>A
|
rs535927511
|
0.00051
|
NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln)
|
rs138920330
|
0.00049
|
NM_001244710.2(GFPT1):c.*5261G>C
|
rs780713952
|
0.00049
|
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)
|
rs188840021
|
0.00049
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_005055.5(RAPSN):c.492C>T (p.Arg164=)
|
rs146237774
|
0.00046
|
NM_001244710.2(GFPT1):c.*6284G>A
|
rs533940046
|
0.00045
|
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)
|
rs199827271
|
0.00044
|
NM_000334.4(SCN4A):c.951A>G (p.Ser317=)
|
rs185246154
|
0.00044
|
NM_005677.4(COLQ):c.*421G>A
|
rs533015053
|
0.00044
|
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=)
|
rs202051373
|
0.00043
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00042
|
NM_000334.4(SCN4A):c.*2085C>G
|
rs756262968
|
0.00042
|
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)
|
rs148028364
|
0.00042
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
NM_000747.3(CHRNB1):c.1359C>T (p.His453=)
|
rs142053338
|
0.00041
|
NM_005677.4(COLQ):c.*1248C>T
|
rs373209743
|
0.00041
|
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)
|
rs138418494
|
0.00040
|
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=)
|
rs373597946
|
0.00038
|
NM_005677.4(COLQ):c.*516G>A
|
rs544927968
|
0.00038
|
NM_000747.3(CHRNB1):c.*755A>C
|
rs80058486
|
0.00037
|
NM_000080.4(CHRNE):c.*125C>T
|
rs538687901
|
0.00036
|
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=)
|
rs200354336
|
0.00036
|
NM_000751.3(CHRND):c.198+14C>T
|
rs199538903
|
0.00036
|
NM_000334.4(SCN4A):c.*1069G>A
|
rs368616841
|
0.00035
|
NM_001244710.2(GFPT1):c.*395C>T
|
rs537215984
|
0.00035
|
NM_000334.4(SCN4A):c.*780G>T
|
rs562146322
|
0.00034
|
NM_000751.3(CHRND):c.*580C>T
|
rs371903548
|
0.00034
|
NM_005592.4(MUSK):c.300G>A (p.Thr100=)
|
rs180928221
|
0.00034
|
NM_005677.4(COLQ):c.561C>T (p.Ser187=)
|
rs149370622
|
0.00034
|
NM_000751.3(CHRND):c.*676G>A
|
rs183259359
|
0.00032
|
NM_005592.4(MUSK):c.2573G>A (p.Arg858His)
|
rs34115159
|
0.00032
|
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser)
|
rs200750233
|
0.00032
|
NM_001244710.2(GFPT1):c.*5353C>T
|
rs575765484
|
0.00031
|
NM_001244710.2(GFPT1):c.*454T>G
|
rs796956367
|
0.00030
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_000080.4(CHRNE):c.*315T>G
|
rs779969688
|
0.00029
|
NM_000080.4(CHRNE):c.*572C>G
|
rs564549054
|
0.00029
|
NM_000751.3(CHRND):c.*641C>T
|
rs190008760
|
0.00029
|
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr)
|
rs202045225
|
0.00029
|
NM_000334.4(SCN4A):c.1845+7A>C
|
rs141021600
|
0.00028
|
NM_005055.5(RAPSN):c.903G>A (p.Ala301=)
|
rs56040810
|
0.00028
|
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=)
|
rs368263333
|
0.00027
|
NM_005677.4(COLQ):c.*407C>T
|
rs569980572
|
0.00027
|
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val)
|
rs367751078
|
0.00026
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)
|
rs201199086
|
0.00026
|
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)
|
rs377277110
|
0.00026
|
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
|
rs200274258
|
0.00026
|
NM_000751.3(CHRND):c.*1313G>A
|
rs554703726
|
0.00026
|
NM_000751.3(CHRND):c.*1314A>T
|
rs574569801
|
0.00026
|
NM_000751.3(CHRND):c.651G>A (p.Pro217=)
|
rs146205427
|
0.00026
|
NM_005677.4(COLQ):c.300C>T (p.Ser100=)
|
rs2305611
|
0.00026
|
NM_000079.4(CHRNA1):c.*383T>C
|
rs768887652
|
0.00025
|
NM_000080.4(CHRNE):c.46+5G>A
|
rs375802288
|
0.00025
|
NM_000334.4(SCN4A):c.*755G>A
|
rs886053243
|
0.00025
|
NM_005592.4(MUSK):c.2331C>T (p.Asn777=)
|
rs56394142
|
0.00025
|
NM_000334.4(SCN4A):c.*873G>C
|
rs540759411
|
0.00024
|
NM_000747.3(CHRNB1):c.340G>A (p.Val114Met)
|
rs149433073
|
0.00024
|
NM_000751.3(CHRND):c.*379C>T
|
rs552885486
|
0.00024
|
NM_001244710.2(GFPT1):c.*3576A>G
|
rs150614742
|
0.00023
|
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp)
|
rs201014623
|
0.00023
|
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala)
|
rs146687198
|
0.00023
|
NM_001244710.2(GFPT1):c.*3134A>G
|
rs79748218
|
0.00022
|
NM_001244710.2(GFPT1):c.*4650A>G
|
rs886056237
|
0.00022
|
NM_005592.4(MUSK):c.549A>G (p.Glu183=)
|
rs369254308
|
0.00022
|
NM_005677.4(COLQ):c.*169T>A
|
rs550256310
|
0.00022
|
NM_005677.4(COLQ):c.*189C>T
|
rs749985637
|
0.00022
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)
|
rs182691342
|
0.00021
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00021
|
NM_001244710.2(GFPT1):c.*1461T>G
|
rs146949335
|
0.00021
|
NM_001244710.2(GFPT1):c.223+5C>T
|
rs200631666
|
0.00021
|
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser)
|
rs116828761
|
0.00021
|
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)
|
rs151081792
|
0.00020
|
NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu)
|
rs137852803
|
0.00020
|
NM_000751.3(CHRND):c.45G>A (p.Ala15=)
|
rs138609765
|
0.00020
|
NM_001244710.2(GFPT1):c.*2634C>T
|
rs1002266594
|
0.00020
|
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser)
|
rs764960076
|
0.00019
|
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=)
|
rs369445518
|
0.00019
|
NM_000747.3(CHRNB1):c.564C>T (p.Asp188=)
|
rs77592498
|
0.00019
|
NM_000747.3(CHRNB1):c.720C>T (p.Ile240=)
|
rs147607553
|
0.00018
|
NM_000334.4(SCN4A):c.*304G>A
|
rs545908155
|
0.00017
|
NM_000334.4(SCN4A):c.*86G>T
|
rs566876110
|
0.00017
|
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=)
|
rs377187913
|
0.00017
|
NM_000747.3(CHRNB1):c.*343C>T
|
rs537009813
|
0.00017
|
NM_000079.4(CHRNA1):c.*101C>T
|
rs867744338
|
0.00016
|
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=)
|
rs372862723
|
0.00016
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)
|
rs149683345
|
0.00016
|
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu)
|
rs146619514
|
0.00016
|
NM_000747.3(CHRNB1):c.903C>T (p.Thr301=)
|
rs117168441
|
0.00015
|
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)
|
rs142735836
|
0.00014
|
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr)
|
rs201115695
|
0.00014
|
NM_000747.3(CHRNB1):c.1217+9A>G
|
rs145242880
|
0.00014
|
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)
|
rs144433265
|
0.00014
|
NM_005592.4(MUSK):c.206+10C>T
|
rs371617202
|
0.00014
|
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)
|
rs759668768
|
0.00013
|
NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro)
|
rs201915086
|
0.00013
|
NM_001244710.2(GFPT1):c.*2418C>T
|
rs966070692
|
0.00013
|
NM_001244710.2(GFPT1):c.*2758G>A
|
rs772432908
|
0.00013
|
NM_005677.4(COLQ):c.*1292T>G
|
rs886058093
|
0.00013
|
NM_005677.4(COLQ):c.*715G>A
|
rs922188126
|
0.00013
|
NM_000334.4(SCN4A):c.*1887A>G
|
rs749866237
|
0.00012
|
NM_000751.3(CHRND):c.*908A>G
|
rs547787086
|
0.00012
|
NM_001244710.2(GFPT1):c.*2223C>T
|
rs145374217
|
0.00012
|
NM_000079.4(CHRNA1):c.1002+9G>A
|
rs368959759
|
0.00011
|
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val)
|
rs755802710
|
0.00011
|
NM_000334.4(SCN4A):c.*1108C>G
|
rs773016576
|
0.00011
|
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)
|
rs147936148
|
0.00011
|
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)
|
rs149907018
|
0.00011
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=)
|
rs374480468
|
0.00011
|
NM_001244710.2(GFPT1):c.*4121A>G
|
rs560298974
|
0.00011
|
NM_001244710.2(GFPT1):c.*6102T>G
|
rs950984771
|
0.00011
|
NM_005055.5(RAPSN):c.-23G>A
|
rs370356548
|
0.00011
|
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val)
|
rs191581729
|
0.00011
|
NM_005677.4(COLQ):c.*1408C>T
|
rs989975589
|
0.00011
|
NM_005677.4(COLQ):c.812C>T (p.Ala271Val)
|
rs373735085
|
0.00011
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000334.4(SCN4A):c.*1253G>A
|
rs886053240
|
0.00010
|
NM_000334.4(SCN4A):c.-33C>T
|
rs575313119
|
0.00010
|
NM_000334.4(SCN4A):c.1100+15G>A
|
rs533321924
|
0.00010
|
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=)
|
rs751973449
|
0.00010
|
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
|
rs201192904
|
0.00010
|
NM_001244710.2(GFPT1):c.*2325G>A
|
rs886056246
|
0.00010
|
NM_001244710.2(GFPT1):c.*5673C>T
|
rs191479634
|
0.00010
|
NM_001244710.2(GFPT1):c.*977T>C
|
rs182921837
|
0.00010
|
NM_005055.5(RAPSN):c.640G>A (p.Val214Met)
|
rs201124957
|
0.00010
|
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
|
rs139625105
|
0.00009
|
NM_000080.4(CHRNE):c.768C>T (p.Gly256=)
|
rs372509633
|
0.00009
|
NM_000334.4(SCN4A):c.*1916C>T
|
rs139537251
|
0.00009
|
NM_000334.4(SCN4A):c.*630T>C
|
rs779847568
|
0.00009
|
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)
|
rs766463226
|
0.00009
|
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=)
|
rs368278422
|
0.00009
|
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=)
|
rs538173069
|
0.00009
|
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val)
|
rs368822028
|
0.00009
|
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)
|
rs202102815
|
0.00009
|
NM_000747.3(CHRNB1):c.*749C>T
|
rs760896819
|
0.00009
|
NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr)
|
rs201776800
|
0.00009
|
NM_000747.3(CHRNB1):c.754G>A (p.Val252Ile)
|
rs751045224
|
0.00009
|
NM_000751.3(CHRND):c.*635C>T
|
rs747270172
|
0.00009
|
NM_000751.3(CHRND):c.480C>T (p.Phe160=)
|
rs200986300
|
0.00009
|
NM_000751.3(CHRND):c.525G>A (p.Thr175=)
|
rs56203086
|
0.00009
|
NM_001244710.2(GFPT1):c.*673A>G
|
rs533310642
|
0.00009
|
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)
|
rs367565995
|
0.00009
|
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg)
|
rs768074747
|
0.00009
|
NM_005677.4(COLQ):c.814+11C>T
|
rs575840341
|
0.00009
|
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)
|
rs189442556
|
0.00008
|
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)
|
rs202198207
|
0.00008
|
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala)
|
rs774407731
|
0.00008
|
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=)
|
rs375375167
|
0.00008
|
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
|
rs763827415
|
0.00008
|
NM_000747.3(CHRNB1):c.*765G>A
|
rs776762809
|
0.00008
|
NM_000751.3(CHRND):c.411C>T (p.Gly137=)
|
rs373578965
|
0.00008
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
NM_005592.4(MUSK):c.-43G>A
|
rs116884176
|
0.00008
|
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg)
|
rs201291910
|
0.00008
|
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)
|
rs199507468
|
0.00008
|
NM_005677.4(COLQ):c.367-3T>C
|
rs368112392
|
0.00008
|
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)
|
rs374093236
|
0.00007
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
NM_000334.4(SCN4A):c.*1313G>A
|
rs761821168
|
0.00007
|
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=)
|
rs201036204
|
0.00007
|
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)
|
rs267604988
|
0.00007
|
NM_001244710.2(GFPT1):c.*2464C>A
|
rs541938366
|
0.00007
|
NM_001244710.2(GFPT1):c.*2498A>G
|
rs1015403272
|
0.00007
|
NM_001244710.2(GFPT1):c.*3921C>T
|
rs766868319
|
0.00007
|
NM_001244710.2(GFPT1):c.*52C>A
|
rs554824301
|
0.00007
|
NM_000079.4(CHRNA1):c.*358C>T
|
rs886055147
|
0.00006
|
NM_000080.4(CHRNE):c.*206G>A
|
rs548395785
|
0.00006
|
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)
|
rs767374241
|
0.00006
|
NM_000334.4(SCN4A):c.*1057C>T
|
rs886053242
|
0.00006
|
NM_000334.4(SCN4A):c.*2211C>T
|
rs886053237
|
0.00006
|
NM_000334.4(SCN4A):c.-4G>A
|
rs565414568
|
0.00006
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=)
|
rs375607705
|
0.00006
|
NM_000334.4(SCN4A):c.45G>A (p.Glu15=)
|
rs763166498
|
0.00006
|
NM_000747.3(CHRNB1):c.*775A>C
|
rs761728841
|
0.00006
|
NM_000747.3(CHRNB1):c.*843G>C
|
rs886053406
|
0.00006
|
NM_000747.3(CHRNB1):c.-19C>T
|
rs550926134
|
0.00006
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
NM_000751.3(CHRND):c.1359C>T (p.Asn453=)
|
rs776972228
|
0.00006
|
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu)
|
rs146905561
|
0.00006
|
NM_001244710.2(GFPT1):c.*2420C>T
|
rs886056245
|
0.00006
|
NM_001244710.2(GFPT1):c.*4229A>T
|
rs190736026
|
0.00006
|
NM_001244710.2(GFPT1):c.*5514G>T
|
rs886056232
|
0.00006
|
NM_001244710.2(GFPT1):c.*689A>G
|
rs886056254
|
0.00006
|
NM_005055.5(RAPSN):c.690+10C>T
|
rs78293924
|
0.00006
|
NM_005592.4(MUSK):c.1863G>A (p.Ala621=)
|
rs368049319
|
0.00006
|
NM_005592.4(MUSK):c.913+10C>G
|
rs761707078
|
0.00006
|
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro)
|
rs201804790
|
0.00006
|
NM_005677.4(COLQ):c.*1277C>T
|
rs572408115
|
0.00006
|
NM_005677.4(COLQ):c.1355G>A (p.Arg452His)
|
rs754915644
|
0.00006
|
NM_005677.4(COLQ):c.785G>A (p.Arg262His)
|
rs201158622
|
0.00006
|
NM_005677.4(COLQ):c.912C>T (p.Tyr304=)
|
rs886058099
|
0.00006
|
NM_005677.4(COLQ):c.967A>T (p.Asn323Tyr)
|
rs369551954
|
0.00006
|
NM_000334.4(SCN4A):c.*1572T>G
|
rs771871843
|
0.00005
|
NM_000334.4(SCN4A):c.*754T>C
|
rs574113483
|
0.00005
|
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)
|
rs150158100
|
0.00005
|
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)
|
rs772552529
|
0.00005
|
NM_000747.3(CHRNB1):c.*512C>T
|
rs1244804394
|
0.00005
|
NM_000751.3(CHRND):c.*1278C>T
|
rs983960063
|
0.00005
|
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys)
|
rs199984639
|
0.00005
|
NM_001244710.2(GFPT1):c.*176C>T
|
rs1428235397
|
0.00005
|
NM_001244710.2(GFPT1):c.224-10T>C
|
rs777508704
|
0.00005
|
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)
|
rs570140663
|
0.00005
|
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)
|
rs200892332
|
0.00005
|
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)
|
rs190548363
|
0.00005
|
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)
|
rs150756111
|
0.00005
|
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)
|
rs886055151
|
0.00004
|
NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys)
|
rs536229089
|
0.00004
|
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)
|
rs772143528
|
0.00004
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser)
|
rs762509943
|
0.00004
|
NM_000334.4(SCN4A):c.*1172G>A
|
rs540304010
|
0.00004
|
NM_000334.4(SCN4A):c.-74G>A
|
rs546675124
|
0.00004
|
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)
|
rs527384137
|
0.00004
|
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg)
|
rs886053249
|
0.00004
|
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=)
|
rs375596512
|
0.00004
|
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys)
|
rs886053247
|
0.00004
|
NM_000334.4(SCN4A):c.4289-4G>A
|
rs750364111
|
0.00004
|
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=)
|
rs752523459
|
0.00004
|
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His)
|
rs199944673
|
0.00004
|
NM_000747.3(CHRNB1):c.*701G>A
|
rs564887658
|
0.00004
|
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)
|
rs202144045
|
0.00004
|
NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter)
|
rs201033437
|
0.00004
|
NM_000751.3(CHRND):c.1252+10C>T
|
rs373581541
|
0.00004
|
NM_000751.3(CHRND):c.1253-10T>G
|
rs199508773
|
0.00004
|
NM_000751.3(CHRND):c.920C>T (p.Pro307Leu)
|
rs371376389
|
0.00004
|
NM_001244710.2(GFPT1):c.*112C>T
|
rs886056258
|
0.00004
|
NM_001244710.2(GFPT1):c.*1464A>G
|
rs889572078
|
0.00004
|
NM_001244710.2(GFPT1):c.*3385G>A
|
rs886056240
|
0.00004
|
NM_001244710.2(GFPT1):c.*4761G>A
|
rs886056236
|
0.00004
|
NM_001244710.2(GFPT1):c.*5800G>A
|
rs1247018108
|
0.00004
|
NM_001244710.2(GFPT1):c.-153G>A
|
rs886056265
|
0.00004
|
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)
|
rs537066687
|
0.00004
|
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)
|
rs201725858
|
0.00004
|
NM_005592.4(MUSK):c.1522G>A (p.Val508Met)
|
rs769267043
|
0.00004
|
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)
|
rs547450130
|
0.00004
|
NM_005592.4(MUSK):c.2286C>T (p.Asp762=)
|
rs199832657
|
0.00004
|
NM_005592.4(MUSK):c.486+15T>C
|
rs369902312
|
0.00004
|
NM_005677.4(COLQ):c.*257G>A
|
rs886058097
|
0.00004
|
NM_005677.4(COLQ):c.*276A>G
|
rs766923758
|
0.00004
|
NM_005677.4(COLQ):c.*85G>A
|
rs768534998
|
0.00004
|
NM_005677.4(COLQ):c.*993C>T
|
rs886058095
|
0.00004
|
NM_005677.4(COLQ):c.71C>T (p.Pro24Leu)
|
rs374642884
|
0.00004
|
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)
|
rs373005571
|
0.00003
|
NM_000080.4(CHRNE):c.*597G>A
|
rs886053118
|
0.00003
|
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly)
|
rs200343520
|
0.00003
|
NM_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
NM_000334.4(SCN4A):c.*394A>C
|
rs886053244
|
0.00003
|
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)
|
rs189925781
|
0.00003
|
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)
|
rs527236149
|
0.00003
|
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)
|
rs753453769
|
0.00003
|
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)
|
rs371104286
|
0.00003
|
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)
|
rs758511540
|
0.00003
|
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)
|
rs778661227
|
0.00003
|
NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn)
|
rs766657460
|
0.00003
|
NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg)
|
rs555348704
|
0.00003
|
NM_000747.3(CHRNB1):c.680G>A (p.Gly227Glu)
|
rs886053399
|
0.00003
|
NM_000747.3(CHRNB1):c.995T>G (p.Leu332Arg)
|
rs749634279
|
0.00003
|
NM_000751.3(CHRND):c.*1032C>T
|
rs886055786
|
0.00003
|
NM_000751.3(CHRND):c.*227G>A
|
rs766592644
|
0.00003
|
NM_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00003
|
NM_001244710.2(GFPT1):c.*1639A>G
|
rs886056249
|
0.00003
|
NM_001244710.2(GFPT1):c.*4724A>T
|
rs189919589
|
0.00003
|
NM_001244710.2(GFPT1):c.*5325T>G
|
rs867127128
|
0.00003
|
NM_001244710.2(GFPT1):c.*5448A>G
|
rs1051676273
|
0.00003
|
NM_005055.5(RAPSN):c.*16G>A
|
rs886048386
|
0.00003
|
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)
|
rs368044285
|
0.00003
|
NM_005677.4(COLQ):c.*1490A>C
|
rs751038602
|
0.00003
|
NM_000079.4(CHRNA1):c.*310C>T
|
rs1453724345
|
0.00002
|
NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln)
|
rs769337073
|
0.00002
|
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His)
|
rs762938254
|
0.00002
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00002
|
NM_000080.4(CHRNE):c.235-5C>T
|
rs371818740
|
0.00002
|
NM_000080.4(CHRNE):c.360C>T (p.Phe120=)
|
rs140042356
|
0.00002
|
NM_000080.4(CHRNE):c.510G>A (p.Thr170=)
|
rs749454549
|
0.00002
|
NM_000334.4(SCN4A):c.-23G>T
|
rs747406998
|
0.00002
|
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His)
|
rs556099012
|
0.00002
|
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=)
|
rs769634298
|
0.00002
|
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met)
|
rs545724550
|
0.00002
|
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu)
|
rs886053250
|
0.00002
|
NM_000751.3(CHRND):c.*342C>T
|
rs1243263595
|
0.00002
|
NM_000751.3(CHRND):c.*453T>C
|
rs575492169
|
0.00002
|
NM_000751.3(CHRND):c.*969G>A
|
rs1479082913
|
0.00002
|
NM_000751.3(CHRND):c.1195C>T (p.Leu399Phe)
|
rs768633138
|
0.00002
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00002
|
NM_001244710.2(GFPT1):c.*2410C>T
|
rs914030975
|
0.00002
|
NM_001244710.2(GFPT1):c.*2473C>T
|
rs886056244
|
0.00002
|
NM_001244710.2(GFPT1):c.*5390T>G
|
rs940728850
|
0.00002
|
NM_001244710.2(GFPT1):c.*6126A>G
|
rs886056229
|
0.00002
|
NM_001244710.2(GFPT1):c.*635G>A
|
rs1046512995
|
0.00002
|
NM_001244710.2(GFPT1):c.*86C>A
|
rs886056259
|
0.00002
|
NM_005055.5(RAPSN):c.-78G>A
|
rs562440280
|
0.00002
|
NM_005055.5(RAPSN):c.360G>T (p.Gln120His)
|
rs780338213
|
0.00002
|
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys)
|
rs373175897
|
0.00002
|
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln)
|
rs764486887
|
0.00002
|
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln)
|
rs754275653
|
0.00002
|
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys)
|
rs371157090
|
0.00002
|
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser)
|
rs747154421
|
0.00002
|
NM_005677.4(COLQ):c.*426G>A
|
rs763440701
|
0.00002
|
NM_005677.4(COLQ):c.*736A>G
|
rs1419160013
|
0.00002
|
NM_005677.4(COLQ):c.*751C>T
|
rs368981773
|
0.00002
|
NM_005677.4(COLQ):c.942G>A (p.Pro314=)
|
rs771944316
|
0.00002
|
NM_000079.4(CHRNA1):c.*414T>A
|
rs886055146
|
0.00001
|
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe)
|
rs759664482
|
0.00001
|
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)
|
rs771587252
|
0.00001
|
NM_000079.4(CHRNA1):c.267A>G (p.Pro89=)
|
rs886055150
|
0.00001
|
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
|
rs779169597
|
0.00001
|
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
|
rs137852798
|
0.00001
|
NM_000080.4(CHRNE):c.*366G>A
|
rs551684568
|
0.00001
|
NM_000080.4(CHRNE):c.*38G>A
|
rs755764652
|
0.00001
|
NM_000080.4(CHRNE):c.*556C>T
|
rs886053120
|
0.00001
|
NM_000080.4(CHRNE):c.*5C>T
|
rs747566295
|
0.00001
|
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp)
|
rs886053125
|
0.00001
|
NM_000080.4(CHRNE):c.1228T>C (p.Cys410Arg)
|
rs753739289
|
0.00001
|
NM_000080.4(CHRNE):c.723C>T (p.Leu241=)
|
rs886053126
|
0.00001
|
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)
|
rs759226183
|
0.00001
|
NM_000334.4(SCN4A):c.*1218G>A
|
rs908902727
|
0.00001
|
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=)
|
rs759176062
|
0.00001
|
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)
|
rs376538198
|
0.00001
|
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn)
|
rs747479565
|
0.00001
|
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)
|
rs779890709
|
0.00001
|
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=)
|
rs753779301
|
0.00001
|
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met)
|
rs781028684
|
0.00001
|
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn)
|
rs780268341
|
0.00001
|
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)
|
rs201916531
|
0.00001
|
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met)
|
rs774452124
|
0.00001
|
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val)
|
rs779470034
|
0.00001
|
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser)
|
rs751454852
|
0.00001
|
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser)
|
rs531658524
|
0.00001
|
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)
|
rs761947899
|
0.00001
|
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=)
|
rs769625349
|
0.00001
|
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)
|
rs765721076
|
0.00001
|
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)
|
rs1244264430
|
0.00001
|
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr)
|
rs531694454
|
0.00001
|
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu)
|
rs749251685
|
0.00001
|
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)
|
rs761023866
|
0.00001
|
NM_000334.4(SCN4A):c.858G>A (p.Pro286=)
|
rs560230431
|
0.00001
|
NM_000747.3(CHRNB1):c.*403C>G
|
rs1274500712
|
0.00001
|
NM_000747.3(CHRNB1):c.*79G>A
|
rs2069957554
|
0.00001
|
NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser)
|
rs142801700
|
0.00001
|
NM_000747.3(CHRNB1):c.278C>G (p.Ala93Gly)
|
rs753646145
|
0.00001
|
NM_000747.3(CHRNB1):c.39G>C (p.Leu13=)
|
rs770359368
|
0.00001
|
NM_000751.3(CHRND):c.*196G>A
|
rs886055783
|
0.00001
|
NM_000751.3(CHRND):c.*505C>G
|
rs1305242921
|
0.00001
|
NM_000751.3(CHRND):c.*598G>C
|
rs774235883
|
0.00001
|
NM_000751.3(CHRND):c.*92C>T
|
rs561266227
|
0.00001
|
NM_000751.3(CHRND):c.145G>A (p.Glu49Lys)
|
rs767640700
|
0.00001
|
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe)
|
rs752410720
|
0.00001
|
NM_000751.3(CHRND):c.52+7G>A
|
rs1388167579
|
0.00001
|
NM_000751.3(CHRND):c.932+9C>T
|
rs367837942
|
0.00001
|
NM_001244710.2(GFPT1):c.*1083A>C
|
rs886056253
|
0.00001
|
NM_001244710.2(GFPT1):c.*1738C>A
|
rs557996332
|
0.00001
|
NM_001244710.2(GFPT1):c.*1741C>G
|
rs886056248
|
0.00001
|
NM_001244710.2(GFPT1):c.*196G>A
|
rs886056256
|
0.00001
|
NM_001244710.2(GFPT1):c.*1G>C
|
rs143011449
|
0.00001
|
NM_001244710.2(GFPT1):c.*2508A>T
|
rs1208953624
|
0.00001
|
NM_001244710.2(GFPT1):c.*2722C>T
|
rs892647803
|
0.00001
|
NM_001244710.2(GFPT1):c.*3021T>A
|
rs549806095
|
0.00001
|
NM_001244710.2(GFPT1):c.*3438A>G
|
rs575041449
|
0.00001
|
NM_001244710.2(GFPT1):c.*3579T>C
|
rs886056239
|
0.00001
|
NM_001244710.2(GFPT1):c.*5004G>A
|
rs560585699
|
0.00001
|
NM_001244710.2(GFPT1):c.*5713T>C
|
rs1239125022
|
0.00001
|
NM_001244710.2(GFPT1):c.-32C>T
|
rs771295091
|
0.00001
|
NM_001244710.2(GFPT1):c.-34C>T
|
rs886056262
|
0.00001
|
NM_001244710.2(GFPT1):c.1010-10A>G
|
rs753072061
|
0.00001
|
NM_001244710.2(GFPT1):c.1203+12T>A
|
rs886056260
|
0.00001
|
NM_001244710.2(GFPT1):c.1494C>T (p.Ser498=)
|
rs766223183
|
0.00001
|
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)
|
rs765856240
|
0.00001
|
NM_005055.5(RAPSN):c.*80G>C
|
rs886048385
|
0.00001
|
NM_005055.5(RAPSN):c.-113C>T
|
rs547817383
|
0.00001
|
NM_005055.5(RAPSN):c.-121C>T
|
rs753969285
|
0.00001
|
NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser)
|
rs369104346
|
0.00001
|
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)
|
rs2076326463
|
0.00001
|
NM_005055.5(RAPSN):c.192+12C>T
|
rs774654232
|
0.00001
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)
|
rs762865029
|
0.00001
|
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser)
|
rs768323977
|
0.00001
|
NM_005592.4(MUSK):c.1291G>A (p.Val431Met)
|
rs372013406
|
0.00001
|
NM_005592.4(MUSK):c.2333G>A (p.Arg778His)
|
rs751712655
|
0.00001
|
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln)
|
rs776815006
|
0.00001
|
NM_005592.4(MUSK):c.239A>G (p.Asn80Ser)
|
rs772926677
|
0.00001
|
NM_005592.4(MUSK):c.467A>T (p.Lys156Met)
|
rs1048310820
|
0.00001
|
NM_005592.4(MUSK):c.538G>A (p.Val180Ile)
|
rs1468498564
|
0.00001
|
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile)
|
rs1170201682
|
0.00001
|
NM_005592.4(MUSK):c.797T>C (p.Ile266Thr)
|
rs184488481
|
0.00001
|
NM_005677.4(COLQ):c.*1280C>T
|
rs146270961
|
0.00001
|
NM_005677.4(COLQ):c.*446A>C
|
rs1308248041
|
0.00001
|
NM_005677.4(COLQ):c.*848C>T
|
rs550045499
|
0.00001
|
NM_005677.4(COLQ):c.19A>G (p.Met7Val)
|
rs774887446
|
0.00001
|
NM_005677.4(COLQ):c.290C>T (p.Ser97Leu)
|
rs531584926
|
0.00001
|
NM_005677.4(COLQ):c.954+1G>A
|
rs757060689
|
0.00001
|
NM_000079.4(CHRNA1):c.*130A>T
|
rs1683764773
|
|
NM_000079.4(CHRNA1):c.*275A>G
|
rs886055148
|
|
NM_000079.4(CHRNA1):c.*288G>A
|
rs564090863
|
|
NM_000079.4(CHRNA1):c.*422G>T
|
rs184095877
|
|
NM_000079.4(CHRNA1):c.*466G>C
|
rs544906046
|
|
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)
|
rs17838545
|
|
NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg)
|
rs61731797
|
|
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His)
|
rs137852809
|
|
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=)
|
rs143252724
|
|
NM_000080.4(CHRNE):c.*24C>T
|
rs371649855
|
|
NM_000080.4(CHRNE):c.*329T>A
|
rs1597611527
|
|
NM_000080.4(CHRNE):c.*383G>A
|
rs886053121
|
|
NM_000080.4(CHRNE):c.*388C>T
|
rs1337870258
|
|
NM_000080.4(CHRNE):c.*590C>T
|
rs886053119
|
|
NM_000080.4(CHRNE):c.*622C>T
|
rs886053117
|
|
NM_000080.4(CHRNE):c.*743T>G
|
rs1053754
|
|
NM_000080.4(CHRNE):c.*806G>A
|
rs886053114
|
|
NM_000080.4(CHRNE):c.*836C>T
|
rs886053113
|
|
NM_000080.4(CHRNE):c.*852G>A
|
rs761256289
|
|
NM_000080.4(CHRNE):c.*875C>T
|
rs886053112
|
|
NM_000080.4(CHRNE):c.*876G>A
|
rs192238331
|
|
NM_000080.4(CHRNE):c.1057C>G (p.Leu353Val)
|
rs1969863454
|
|
NM_000080.4(CHRNE):c.107A>C (p.Asp36Ala)
|
rs886053127
|
|
NM_000080.4(CHRNE):c.1106C>G (p.Pro369Arg)
|
rs1487474998
|
|
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=)
|
rs1226276974
|
|
NM_000080.4(CHRNE):c.1205A>G (p.Gln402Arg)
|
rs1969848501
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
|
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.1326+6A>C
|
rs886053122
|
|
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)
|
rs570378547
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln)
|
rs972956416
|
|
NM_000080.4(CHRNE):c.385_388del (p.Leu129fs)
|
rs1411229157
|
|
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)
|
rs201434993
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.966C>T (p.Cys322=)
|
rs56377005
|
|
NM_000080.4(CHRNE):c.985T>C (p.Ser329Pro)
|
rs2151095207
|
|
NM_000334.4(SCN4A):c.*1345A>G
|
rs1908450197
|
|
NM_000334.4(SCN4A):c.*1497C>T
|
rs1908443762
|
|
NM_000334.4(SCN4A):c.*1505G>T
|
rs1908443410
|
|
NM_000334.4(SCN4A):c.*1599A>G
|
rs1908440330
|
|
NM_000334.4(SCN4A):c.*1875A>G
|
rs886053239
|
|
NM_000334.4(SCN4A):c.*1890C>A
|
rs886053238
|
|
NM_000334.4(SCN4A):c.*203T>G
|
rs1908484940
|
|
NM_000334.4(SCN4A):c.*2169C>G
|
rs191754378
|
|
NM_000334.4(SCN4A):c.*315C>T
|
rs886053245
|
|
NM_000334.4(SCN4A):c.*981G>A
|
rs144800677
|
|
NM_000334.4(SCN4A):c.-67G>A
|
rs191783461
|
|
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp)
|
rs749394640
|
|
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg)
|
rs753391449
|
|
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)
|
rs373819078
|
|
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu)
|
rs886053248
|
|
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)
|
rs752159625
|
|
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu)
|
rs1908916464
|
|
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His)
|
rs770497876
|
|
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=)
|
rs749973882
|
|
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=)
|
rs1597971116
|
|
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His)
|
rs1908682760
|
|
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys)
|
rs886053246
|
|
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met)
|
rs377620351
|
|
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser)
|
rs118047588
|
|
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn)
|
rs1908587972
|
|
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn)
|
rs1909633732
|
|
NM_000334.4(SCN4A):c.483-5C>A
|
rs191547933
|
|
NM_000334.4(SCN4A):c.483-9C>A
|
rs201552497
|
|
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr)
|
rs1909617747
|
|
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)
|
rs763493738
|
|
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly)
|
rs748434431
|
|
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys)
|
rs78592515
|
|
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile)
|
rs1908500124
|
|
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu)
|
rs765525226
|
|
NM_000747.3(CHRNB1):c.*120G>A
|
rs1340226289
|
|
NM_000747.3(CHRNB1):c.*136T>C
|
rs182995220
|
|
NM_000747.3(CHRNB1):c.*369C>T
|
rs552159525
|
|
NM_000747.3(CHRNB1):c.*71C>T
|
rs886053405
|
|
NM_000747.3(CHRNB1):c.*778C>T
|
rs556525486
|
|
NM_000747.3(CHRNB1):c.1087C>A (p.Pro363Thr)
|
rs886053402
|
|
NM_000747.3(CHRNB1):c.1146C>G (p.Gly382=)
|
rs886053403
|
|
NM_000747.3(CHRNB1):c.1218-3C>T
|
rs886053404
|
|
NM_000747.3(CHRNB1):c.1348C>A (p.Gln450Lys)
|
rs746049604
|
|
NM_000747.3(CHRNB1):c.198+15G>A
|
rs199665345
|
|
NM_000747.3(CHRNB1):c.354-3C>T
|
rs886053392
|
|
NM_000747.3(CHRNB1):c.531G>A (p.Ser177=)
|
rs886053393
|
|
NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly)
|
rs534380483
|
|
NM_000747.3(CHRNB1):c.605dup (p.Ile203fs)
|
rs1447564693
|
|
NM_000747.3(CHRNB1):c.669T>C (p.Asp223=)
|
rs1382103917
|
|
NM_000751.3(CHRND):c.*1194C>T
|
rs778967055
|
|
NM_000751.3(CHRND):c.*1232A>C
|
rs1691898332
|
|
NM_000751.3(CHRND):c.*175G>A
|
rs1691855725
|
|
NM_000751.3(CHRND):c.*268G>A
|
rs1206421929
|
|
NM_000751.3(CHRND):c.*449C>T
|
rs886055784
|
|
NM_000751.3(CHRND):c.*547G>C
|
rs2343841
|
|
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)
|
rs756537437
|
|
NM_000751.3(CHRND):c.1473G>T (p.Gln491His)
|
rs886055781
|
|
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)
|
rs545298641
|
|
NM_000751.3(CHRND):c.348G>A (p.Glu116=)
|
rs1691560409
|
|
NM_001244710.2(GFPT1):c.*1057G>A
|
rs1670498399
|
|
NM_001244710.2(GFPT1):c.*1090G>A
|
rs886056252
|
|
NM_001244710.2(GFPT1):c.*1168C>T
|
rs886056251
|
|
NM_001244710.2(GFPT1):c.*1401G>A
|
rs868495183
|
|
NM_001244710.2(GFPT1):c.*1540A>T
|
rs886056250
|
|
NM_001244710.2(GFPT1):c.*1869A>G
|
rs886056247
|
|
NM_001244710.2(GFPT1):c.*186G>T
|
rs886056257
|
|
NM_001244710.2(GFPT1):c.*1901A>G
|
rs989010524
|
|
NM_001244710.2(GFPT1):c.*2017A>G
|
rs1670478208
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.*2323C>T
|
rs1026843260
|
|
NM_001244710.2(GFPT1):c.*2622G>A
|
rs1670462400
|
|
NM_001244710.2(GFPT1):c.*2720C>T
|
rs886056243
|
|
NM_001244710.2(GFPT1):c.*272T>G
|
rs1670519345
|
|
NM_001244710.2(GFPT1):c.*2907C>T
|
rs7568674
|
|
NM_001244710.2(GFPT1):c.*3019G>T
|
rs886056242
|
|
NM_001244710.2(GFPT1):c.*3090G>T
|
rs886056241
|
|
NM_001244710.2(GFPT1):c.*3091A>T
|
rs7582334
|
|
NM_001244710.2(GFPT1):c.*3287G>A
|
rs1670448736
|
|
NM_001244710.2(GFPT1):c.*3345C>G
|
rs73937245
|
|
NM_001244710.2(GFPT1):c.*3345C>T
|
rs73937245
|
|
NM_001244710.2(GFPT1):c.*3679G>C
|
rs531890221
|
|
NM_001244710.2(GFPT1):c.*383T>G
|
rs886056255
|
|
NM_001244710.2(GFPT1):c.*4230C>T
|
rs555260998
|
|
NM_001244710.2(GFPT1):c.*4375A>G
|
rs1670408570
|
|
NM_001244710.2(GFPT1):c.*4520G>C
|
rs886056238
|
|
NM_001244710.2(GFPT1):c.*4830A>G
|
rs1670399708
|
|
NM_001244710.2(GFPT1):c.*5432G>A
|
rs886056233
|
|
NM_001244710.2(GFPT1):c.*5437G>A
|
rs1670383958
|
|
NM_001244710.2(GFPT1):c.*5464A>G
|
rs115361740
|
|
NM_001244710.2(GFPT1):c.*5476C>T
|
rs921980900
|
|
NM_001244710.2(GFPT1):c.*5764A>G
|
rs1670377831
|
|
NM_001244710.2(GFPT1):c.*5820C>T
|
rs1670376889
|
|
NM_001244710.2(GFPT1):c.*5884A>G
|
rs1670375941
|
|
NM_001244710.2(GFPT1):c.*6016C>T
|
rs886056230
|
|
NM_001244710.2(GFPT1):c.*6039G>T
|
rs1670373103
|
|
NM_001244710.2(GFPT1):c.*6136C>T
|
rs1670370978
|
|
NM_001244710.2(GFPT1):c.*6378G>A
|
rs560039272
|
|
NM_001244710.2(GFPT1):c.*819T>C
|
rs753245475
|
|
NM_001244710.2(GFPT1):c.*870C>A
|
rs77753566
|
|
NM_001244710.2(GFPT1):c.-125C>T
|
rs886056263
|
|
NM_001244710.2(GFPT1):c.-143G>T
|
rs886056264
|
|
NM_001244710.2(GFPT1):c.-80T>C
|
rs568491194
|
|
NM_001244710.2(GFPT1):c.116-12A>G
|
rs540758570
|
|
NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=)
|
rs1269092915
|
|
NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly)
|
rs757328377
|
|
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg)
|
rs886056261
|
|
NM_001244710.2(GFPT1):c.539A>T (p.Gln180Leu)
|
rs1671390527
|
|
NM_001382.4(DPAGT1):c.710G>T (p.Gly237Val)
|
|
|
NM_001382.4(DPAGT1):c.858C>A (p.Phe286Leu)
|
|
|
NM_005055.5(RAPSN):c.-118C>A
|
rs886048389
|
|
NM_005055.5(RAPSN):c.102G>C (p.Glu34Asp)
|
rs2076432091
|
|
NM_005055.5(RAPSN):c.429G>C (p.Leu143=)
|
rs762052702
|
|
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)
|
rs142635726
|
|
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)
|
rs142635726
|
|
NM_005055.5(RAPSN):c.691-4G>T
|
rs886048388
|
|
NM_005055.5(RAPSN):c.912+9G>A
|
rs751790521
|
|
NM_005055.5(RAPSN):c.912+9G>T
|
rs751790521
|
|
NM_005592.4(MUSK):c.1035G>T (p.Glu345Asp)
|
rs1394359501
|
|
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)
|
rs538655454
|
|
NM_005592.4(MUSK):c.131T>C (p.Val44Ala)
|
rs2076148894
|
|
NM_005592.4(MUSK):c.1372G>A (p.Glu458Lys)
|
rs867786307
|
|
NM_005592.4(MUSK):c.1446C>G (p.Ser482=)
|
rs754903785
|
|
NM_005592.4(MUSK):c.1928-6T>C
|
rs886063355
|
|
NM_005592.4(MUSK):c.2171G>A (p.Arg724Gln)
|
rs2078077032
|
|
NM_005592.4(MUSK):c.2353G>A (p.Val785Met)
|
rs2078081817
|
|
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)
|
rs578430
|
|
NM_005592.4(MUSK):c.374G>A (p.Arg125His)
|
rs375737188
|
|
NM_005592.4(MUSK):c.780T>C (p.Ser260=)
|
rs886063353
|
|
NM_005677.4(COLQ):c.*1084G>A
|
rs376202299
|
|
NM_005677.4(COLQ):c.*1395C>T
|
rs3274
|
|
NM_005677.4(COLQ):c.*425C>T
|
rs886058096
|
|
NM_005677.4(COLQ):c.*4C>T
|
rs754063500
|
|
NM_005677.4(COLQ):c.*76C>A
|
rs886058098
|
|
NM_005677.4(COLQ):c.*999G>A
|
rs886058094
|
|
NM_005677.4(COLQ):c.-58A>G
|
rs2063140701
|
|
NM_005677.4(COLQ):c.117C>T (p.Ser39=)
|
rs138891500
|
|
NM_005677.4(COLQ):c.1338C>A (p.Ile446=)
|
rs73818504
|
|
NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg)
|
rs188841362
|
|
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)
|
rs143766249
|
|
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys)
|
rs750806839
|
|
NM_005677.4(COLQ):c.607C>T (p.Pro203Ser)
|
rs2062334452
|
|
NM_005677.4(COLQ):c.718-9C>T
|
rs756975517
|
|