ClinVar Miner

List of variants studied for congenital myasthenic syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 832
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HGVS dbSNP gnomAD frequency
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

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