NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
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_001382.4(DPAGT1):c.918-18G>A
|
rs145206990
|
0.00859
|
NM_198576.4(AGRN):c.738C>T (p.Asp246=)
|
rs536085218
|
0.00811
|
NM_005055.5(RAPSN):c.-72C>T
|
rs117947983
|
0.00803
|
NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp)
|
rs184970403
|
0.00799
|
NM_000334.4(SCN4A):c.1606+20G>A
|
rs73326363
|
0.00787
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
NM_000334.4(SCN4A):c.3720+9G>T
|
rs9303466
|
0.00769
|
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)
|
rs34364382
|
0.00753
|
NM_198576.4(AGRN):c.1603+19G>A
|
rs115191992
|
0.00697
|
NM_000079.4(CHRNA1):c.*218C>T
|
rs79539026
|
0.00579
|
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)
|
rs147990356
|
0.00536
|
NM_000080.4(CHRNE):c.*6A>G
|
rs55806270
|
0.00487
|
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)
|
rs144620006
|
0.00426
|
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.1045-6C>G
|
rs79209506
|
0.00404
|
NM_173660.5(DOK7):c.54+19C>T
|
rs757053604
|
0.00400
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)
|
rs115510708
|
0.00392
|
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_000334.4(SCN4A):c.2645C>A (p.Pro882Gln)
|
rs111858905
|
0.00367
|
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)
|
rs113277954
|
0.00347
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
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_020549.5(CHAT):c.1135G>C (p.Asp379His)
|
rs115212829
|
0.00296
|
NM_000080.4(CHRNE):c.1220-5G>A
|
rs188564977
|
0.00287
|
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)
|
rs2799068
|
0.00284
|
NM_000747.3(CHRNB1):c.-13G>C
|
rs199903026
|
0.00278
|
NM_000080.4(CHRNE):c.918-6C>G
|
rs141408756
|
0.00277
|
NM_033087.4(ALG2):c.349-17A>G
|
rs193069827
|
0.00275
|
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
|
rs139945437
|
0.00271
|
NM_198576.4(AGRN):c.5095C>T (p.Arg1699Cys)
|
rs148518738
|
0.00268
|
NM_198576.4(AGRN):c.800C>T (p.Thr267Met)
|
rs566673314
|
0.00265
|
NM_198576.4(AGRN):c.3533G>A (p.Arg1178Gln)
|
rs148430436
|
0.00264
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)
|
rs139521179
|
0.00255
|
NM_005677.4(COLQ):c.789G>A (p.Pro263=)
|
rs150061580
|
0.00251
|
NM_001244710.2(GFPT1):c.*4944A>G
|
rs112572296
|
0.00246
|
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)
|
rs61748876
|
0.00246
|
NM_173660.5(DOK7):c.332-69_332-18del
|
rs1560212382
|
0.00242
|
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_173660.5(DOK7):c.178G>A (p.Glu60Lys)
|
rs199980106
|
0.00227
|
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=)
|
rs368555478
|
0.00225
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg)
|
rs111438719
|
0.00218
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)
|
rs116586548
|
0.00216
|
NM_002334.4(LRP4):c.1787A>G (p.His596Arg)
|
rs138878258
|
0.00211
|
NM_001244710.2(GFPT1):c.*4274A>T
|
rs142243075
|
0.00210
|
NM_000334.4(SCN4A):c.1453-4A>G
|
rs111818485
|
0.00209
|
NM_198576.4(AGRN):c.494C>T (p.Pro165Leu)
|
rs140954236
|
0.00204
|
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)
|
rs116836855
|
0.00203
|
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)
|
rs144592743
|
0.00202
|
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
|
rs151193377
|
0.00197
|
NM_198576.4(AGRN):c.3719C>T (p.Pro1240Leu)
|
rs142620337
|
0.00191
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00187
|
NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr)
|
rs140990611
|
0.00186
|
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)
|
rs114463490
|
0.00175
|
NM_002334.4(LRP4):c.1915+6C>T
|
rs184555624
|
0.00175
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_198576.4(AGRN):c.4116C>T (p.Ala1372=)
|
rs200170414
|
0.00170
|
NM_198576.4(AGRN):c.4879+17T>A
|
rs535286672
|
0.00170
|
NM_198576.4(AGRN):c.5647G>A (p.Glu1883Lys)
|
rs139415524
|
0.00167
|
NM_198576.4(AGRN):c.2155G>A (p.Gly719Ser)
|
rs149594498
|
0.00158
|
NM_000334.4(SCN4A):c.3774+7C>T
|
rs199659791
|
0.00149
|
NM_000751.3(CHRND):c.*365C>A
|
rs112940737
|
0.00145
|
NM_198576.4(AGRN):c.3926G>A (p.Arg1309Gln)
|
rs199680125
|
0.00143
|
NM_000747.3(CHRNB1):c.243+14A>G
|
rs376387886
|
0.00138
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile)
|
rs202073484
|
0.00135
|
NM_173660.5(DOK7):c.1008G>A (p.Ser336=)
|
rs185050737
|
0.00131
|
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)
|
rs79414242
|
0.00129
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
NM_198576.4(AGRN):c.752T>C (p.Val251Ala)
|
rs779170859
|
0.00125
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00124
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)
|
rs144164397
|
0.00119
|
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)
|
rs143876748
|
0.00118
|
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)
|
rs184556570
|
0.00117
|
NM_198576.4(AGRN):c.4694A>G (p.Gln1565Arg)
|
rs201818235
|
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_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
NM_173660.5(DOK7):c.332-43_332-18del
|
rs781466203
|
0.00108
|
NM_198576.4(AGRN):c.1178-7G>A
|
rs200932219
|
0.00106
|
NM_198576.4(AGRN):c.5370+11G>A
|
rs373058941
|
0.00104
|
NM_198576.4(AGRN):c.1188G>A (p.Pro396=)
|
rs138841641
|
0.00103
|
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)
|
rs147760280
|
0.00102
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
NM_173660.5(DOK7):c.816C>G (p.His272Gln)
|
rs115614731
|
0.00098
|
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile)
|
rs138945146
|
0.00096
|
NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln)
|
rs146243145
|
0.00094
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
NM_198576.4(AGRN):c.2681-4C>T
|
rs186518388
|
0.00092
|
NM_144988.4(ALG14):c.40G>A (p.Val14Met)
|
rs11165298
|
0.00091
|
NM_000080.4(CHRNE):c.*858G>C
|
rs375660349
|
0.00090
|
NM_001171613.2(PREPL):c.-49+1740C>A
|
rs145322905
|
0.00089
|
NM_001244710.2(GFPT1):c.7+20G>T
|
rs373299682
|
0.00088
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
NM_198576.4(AGRN):c.5877-17C>A
|
rs199552967
|
0.00083
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00082
|
NM_005677.4(COLQ):c.72G>A (p.Pro24=)
|
rs111339593
|
0.00080
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr)
|
rs140764403
|
0.00079
|
NM_198576.4(AGRN):c.624T>C (p.Pro208=)
|
rs371764695
|
0.00079
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
NM_002334.4(LRP4):c.2868G>A (p.Glu956=)
|
rs145460760
|
0.00076
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
NM_198576.4(AGRN):c.5564-11C>T
|
rs191736727
|
0.00076
|
NM_002334.4(LRP4):c.5520T>C (p.His1840=)
|
rs144350829
|
0.00075
|
NM_198576.4(AGRN):c.5643G>A (p.Val1881=)
|
rs142242736
|
0.00074
|
NM_001382.4(DPAGT1):c.918-4G>A
|
rs201656540
|
0.00073
|
NM_005592.4(MUSK):c.1779-7C>T
|
rs114362384
|
0.00072
|
NM_001171613.2(PREPL):c.917T>C (p.Met306Thr)
|
rs150182073
|
0.00071
|
NM_001171613.2(PREPL):c.68A>G (p.Asn23Ser)
|
rs138377728
|
0.00070
|
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg)
|
rs144158112
|
0.00068
|
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_002334.4(LRP4):c.4807A>G (p.Ile1603Val)
|
rs147688807
|
0.00063
|
NM_033087.4(ALG2):c.348+6G>A
|
rs368075764
|
0.00063
|
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser)
|
rs376509451
|
0.00063
|
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)
|
rs199994118
|
0.00061
|
NM_198576.4(AGRN):c.4272G>A (p.Ala1424=)
|
rs201470321
|
0.00061
|
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)
|
rs144639401
|
0.00060
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
NM_144988.4(ALG14):c.552C>T (p.Ser184=)
|
rs148202016
|
0.00059
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser)
|
rs148533702
|
0.00056
|
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr)
|
rs115877658
|
0.00056
|
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
|
rs146770430
|
0.00055
|
NM_002334.4(LRP4):c.676+13G>A
|
rs200963011
|
0.00052
|
NM_001171613.2(PREPL):c.967A>G (p.Ile323Val)
|
rs143785426
|
0.00051
|
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu)
|
rs768517440
|
0.00051
|
NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln)
|
rs138920330
|
0.00049
|
NM_001171613.2(PREPL):c.444T>C (p.Asp148=)
|
rs149836496
|
0.00049
|
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)
|
rs188840021
|
0.00049
|
NM_198576.4(AGRN):c.4734C>T (p.Pro1578=)
|
rs186574226
|
0.00049
|
NM_033087.4(ALG2):c.216G>T (p.Gly72=)
|
rs531748488
|
0.00048
|
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_021815.5(SLC5A7):c.1113+9A>G
|
rs192964655
|
0.00046
|
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)
|
rs138010842
|
0.00046
|
NM_005055.5(RAPSN):c.1166+16G>A
|
rs377580268
|
0.00045
|
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)
|
rs150497723
|
0.00045
|
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)
|
rs199827271
|
0.00044
|
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val)
|
rs375762569
|
0.00044
|
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=)
|
rs202051373
|
0.00043
|
NM_000747.3(CHRNB1):c.132A>G (p.Pro44=)
|
rs35872101
|
0.00043
|
NM_005592.4(MUSK):c.1057C>A (p.His353Asn)
|
rs201791900
|
0.00043
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
NM_000747.3(CHRNB1):c.1359C>T (p.His453=)
|
rs142053338
|
0.00041
|
NM_130811.4(SNAP25):c.6C>T (p.Ala2=)
|
rs11547858
|
0.00040
|
NM_005592.4(MUSK):c.1928-4C>A
|
rs375406874
|
0.00038
|
NM_198576.4(AGRN):c.5735C>T (p.Ala1912Val)
|
rs141178720
|
0.00038
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00037
|
NM_173660.5(DOK7):c.332-5C>T
|
rs375468951
|
0.00037
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
NM_173660.5(DOK7):c.972G>A (p.Pro324=)
|
rs373041663
|
0.00036
|
NM_005592.4(MUSK):c.2082C>A (p.Pro694=)
|
rs201616041
|
0.00035
|
NM_198576.4(AGRN):c.2028T>A (p.Ser676=)
|
rs144713799
|
0.00035
|
NM_198576.4(AGRN):c.5337C>T (p.Ala1779=)
|
rs141463750
|
0.00035
|
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)
|
rs138519099
|
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_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_198576.4(AGRN):c.2270C>T (p.Pro757Leu)
|
rs202172924
|
0.00034
|
NM_198576.4(AGRN):c.3936C>T (p.Thr1312=)
|
rs775175131
|
0.00034
|
NM_198576.4(AGRN):c.5536G>C (p.Gly1846Arg)
|
rs199499080
|
0.00034
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
NM_000080.4(CHRNE):c.46+20G>A
|
rs368007857
|
0.00032
|
NM_000334.4(SCN4A):c.1607-17T>C
|
rs202103551
|
0.00032
|
NM_000747.3(CHRNB1):c.1126T>C (p.Cys376Arg)
|
rs150290595
|
0.00032
|
NM_000751.3(CHRND):c.*676G>A
|
rs183259359
|
0.00032
|
NM_001171613.2(PREPL):c.1135G>C (p.Asp379His)
|
rs140165185
|
0.00032
|
NM_001171613.2(PREPL):c.516C>T (p.Asp172=)
|
rs138620283
|
0.00032
|
NM_001171613.2(PREPL):c.594C>T (p.Asp198=)
|
rs373041097
|
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_173660.5(DOK7):c.313C>T (p.Arg105Cys)
|
rs115883468
|
0.00032
|
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)
|
rs149636063
|
0.00032
|
NM_198576.4(AGRN):c.2277G>A (p.Pro759=)
|
rs199985558
|
0.00032
|
NM_000080.4(CHRNE):c.66C>T (p.Asn22=)
|
rs55770091
|
0.00031
|
NM_002334.4(LRP4):c.3004+19G>T
|
rs376749778
|
0.00031
|
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)
|
rs144169411
|
0.00031
|
NM_173660.5(DOK7):c.975G>A (p.Arg325=)
|
rs370661591
|
0.00031
|
NM_198576.4(AGRN):c.2796C>T (p.Asn932=)
|
rs147153797
|
0.00031
|
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser)
|
rs375221757
|
0.00030
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
NM_173660.5(DOK7):c.567G>A (p.Gly189=)
|
rs141808910
|
0.00030
|
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)
|
rs199811263
|
0.00029
|
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser)
|
rs376635652
|
0.00029
|
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr)
|
rs202045225
|
0.00029
|
NM_198576.4(AGRN):c.3517-6C>T
|
rs369941113
|
0.00029
|
NM_198576.4(AGRN):c.4881C>T (p.Ala1627=)
|
rs144586153
|
0.00029
|
NM_001244710.2(GFPT1):c.99A>G (p.Arg33=)
|
rs146463758
|
0.00028
|
NM_005055.5(RAPSN):c.816C>T (p.Ala272=)
|
rs779303374
|
0.00028
|
NM_005055.5(RAPSN):c.903G>A (p.Ala301=)
|
rs56040810
|
0.00028
|
NM_198576.4(AGRN):c.1209C>T (p.Ala403=)
|
rs368625531
|
0.00028
|
NM_001171613.2(PREPL):c.-49+1883G>T
|
rs199854790
|
0.00027
|
NM_020549.5(CHAT):c.1716G>A (p.Ser572=)
|
rs374000183
|
0.00027
|
NM_020549.5(CHAT):c.1894C>T (p.Arg632Trp)
|
rs141127966
|
0.00027
|
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr)
|
rs539190403
|
0.00027
|
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln)
|
rs144269117
|
0.00027
|
NM_198576.4(AGRN):c.2337C>T (p.Thr779=)
|
rs141886688
|
0.00027
|
NM_198576.4(AGRN):c.2563G>A (p.Val855Met)
|
rs200684031
|
0.00027
|
NM_198576.4(AGRN):c.4976+4G>A
|
rs565518558
|
0.00027
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
NM_001244710.2(GFPT1):c.408+19A>G
|
rs201470680
|
0.00026
|
NM_005677.4(COLQ):c.300C>T (p.Ser100=)
|
rs2305611
|
0.00026
|
NM_020549.5(CHAT):c.2178G>A (p.Pro726=)
|
rs77144546
|
0.00026
|
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln)
|
rs370039804
|
0.00026
|
NM_198576.4(AGRN):c.3720G>A (p.Pro1240=)
|
rs550897417
|
0.00026
|
NM_002334.4(LRP4):c.273C>T (p.Asp91=)
|
rs150401820
|
0.00025
|
NM_005592.4(MUSK):c.2331C>T (p.Asn777=)
|
rs56394142
|
0.00025
|
NM_130811.4(SNAP25):c.534C>T (p.Ile178=)
|
rs200030321
|
0.00025
|
NM_198576.4(AGRN):c.2601G>A (p.Ser867=)
|
rs144794590
|
0.00025
|
NM_000334.4(SCN4A):c.1101-16C>T
|
rs376459843
|
0.00024
|
NM_000747.3(CHRNB1):c.593A>G (p.His198Arg)
|
rs76251791
|
0.00024
|
NM_002334.4(LRP4):c.1059G>A (p.Thr353=)
|
rs144710408
|
0.00024
|
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)
|
rs766051613
|
0.00024
|
NM_020549.5(CHAT):c.858C>T (p.Thr286=)
|
rs200423662
|
0.00024
|
NM_021815.5(SLC5A7):c.1299T>C (p.Tyr433=)
|
rs144772225
|
0.00024
|
NM_173660.5(DOK7):c.54+23_54+24insA
|
rs759348603
|
0.00024
|
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu)
|
rs146895834
|
0.00024
|
NM_020549.5(CHAT):c.1955G>A (p.Arg652Gln)
|
rs116628504
|
0.00023
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
NM_021815.5(SLC5A7):c.293-18C>G
|
rs200631097
|
0.00023
|
NM_198576.4(AGRN):c.1187C>T (p.Pro396Leu)
|
rs374230348
|
0.00023
|
NM_001171613.2(PREPL):c.750A>G (p.Leu250=)
|
rs146874807
|
0.00022
|
NM_001244710.2(GFPT1):c.*3134A>G
|
rs79748218
|
0.00022
|
NM_002334.4(LRP4):c.378G>A (p.Leu126=)
|
rs201749120
|
0.00022
|
NM_005592.4(MUSK):c.1743C>A (p.Ile581=)
|
rs756096336
|
0.00022
|
NM_005592.4(MUSK):c.549A>G (p.Glu183=)
|
rs369254308
|
0.00022
|
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)
|
rs377555406
|
0.00022
|
NM_173660.5(DOK7):c.282C>T (p.His94=)
|
rs377025553
|
0.00022
|
NM_173660.5(DOK7):c.846C>T (p.Thr282=)
|
rs141147662
|
0.00022
|
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)
|
rs182691342
|
0.00021
|
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=)
|
rs368024629
|
0.00021
|
NM_001171613.2(PREPL):c.1629+12C>T
|
rs371909871
|
0.00021
|
NM_001171613.2(PREPL):c.1791T>C (p.Pro597=)
|
rs189954086
|
0.00021
|
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=)
|
rs369055649
|
0.00021
|
NM_001244710.2(GFPT1):c.223+5C>T
|
rs200631666
|
0.00021
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
0.00021
|
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)
|
rs144335505
|
0.00021
|
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)
|
rs150734530
|
0.00021
|
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser)
|
rs116828761
|
0.00021
|
NM_005677.4(COLQ):c.1161C>T (p.Asp387=)
|
rs539100854
|
0.00021
|
NM_020549.5(CHAT):c.1173C>T (p.Asp391=)
|
rs141690626
|
0.00021
|
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)
|
rs141141719
|
0.00021
|
NM_198576.4(AGRN):c.5775C>T (p.Asp1925=)
|
rs375797607
|
0.00021
|
NM_000747.3(CHRNB1):c.753C>T (p.Asn251=)
|
rs142067673
|
0.00020
|
NM_002334.4(LRP4):c.1491C>T (p.Leu497=)
|
rs146501212
|
0.00020
|
NM_198576.4(AGRN):c.2271G>A (p.Pro757=)
|
rs150123719
|
0.00020
|
NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro)
|
rs568952207
|
0.00019
|
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser)
|
rs764960076
|
0.00019
|
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)
|
rs372002602
|
0.00019
|
NM_000747.3(CHRNB1):c.564C>T (p.Asp188=)
|
rs77592498
|
0.00019
|
NM_001171613.2(PREPL):c.1629+14A>G
|
rs748376274
|
0.00019
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)
|
rs377757018
|
0.00019
|
NM_173660.5(DOK7):c.1320C>T (p.Ala440=)
|
rs368868378
|
0.00019
|
NM_198576.4(AGRN):c.1238G>A (p.Arg413His)
|
rs201280723
|
0.00019
|
NM_198576.4(AGRN):c.2610C>T (p.Pro870=)
|
rs371615464
|
0.00019
|
NM_198576.4(AGRN):c.3801G>A (p.Ala1267=)
|
rs148483856
|
0.00019
|
NM_198576.4(AGRN):c.4298+9G>A
|
rs774692884
|
0.00019
|
NM_198576.4(AGRN):c.519G>C (p.Arg173=)
|
rs756710837
|
0.00019
|
NM_198576.4(AGRN):c.840C>G (p.Pro280=)
|
rs956784907
|
0.00019
|
NM_000747.3(CHRNB1):c.720C>T (p.Ile240=)
|
rs147607553
|
0.00018
|
NM_001171613.2(PREPL):c.1086+8T>G
|
rs374029150
|
0.00018
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=)
|
rs140010759
|
0.00018
|
NM_173660.5(DOK7):c.54+31G>T
|
rs762404326
|
0.00018
|
NM_198576.4(AGRN):c.1107C>T (p.Val369=)
|
rs369413947
|
0.00018
|
NM_000080.4(CHRNE):c.1458C>T (p.Pro486=)
|
rs768977197
|
0.00017
|
NM_000334.4(SCN4A):c.3318+20C>G
|
rs368263593
|
0.00017
|
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His)
|
rs79220301
|
0.00017
|
NM_002334.4(LRP4):c.1310-9G>C
|
rs200509094
|
0.00017
|
NM_198576.4(AGRN):c.3732C>T (p.His1244=)
|
rs536657086
|
0.00017
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_001171613.2(PREPL):c.1480-6T>C
|
rs756590077
|
0.00016
|
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)
|
rs149683345
|
0.00016
|
NM_005677.4(COLQ):c.321+17G>A
|
rs769285800
|
0.00016
|
NM_020549.5(CHAT):c.1511+13G>A
|
rs561823003
|
0.00016
|
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
|
rs142285373
|
0.00016
|
NM_021815.5(SLC5A7):c.486C>T (p.His162=)
|
rs369362436
|
0.00016
|
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln)
|
rs200675356
|
0.00016
|
NM_173660.5(DOK7):c.772+14C>G
|
rs201023802
|
0.00016
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
NM_198576.4(AGRN):c.1461G>A (p.Ala487=)
|
rs369442516
|
0.00016
|
NM_198576.4(AGRN):c.1890C>T (p.Pro630=)
|
rs779308593
|
0.00016
|
NM_198576.4(AGRN):c.3132G>A (p.Thr1044=)
|
rs747633469
|
0.00016
|
NM_198576.4(AGRN):c.384C>G (p.His128Gln)
|
rs768527925
|
0.00016
|
NM_198576.4(AGRN):c.5052G>A (p.Thr1684=)
|
rs150178666
|
0.00016
|
NM_198576.4(AGRN):c.511+18C>T
|
rs372583504
|
0.00016
|
NM_198576.4(AGRN):c.5817G>A (p.Val1939=)
|
rs371378860
|
0.00016
|
NM_001171613.2(PREPL):c.453T>C (p.Arg151=)
|
rs368239846
|
0.00015
|
NM_001171613.2(PREPL):c.485+13T>C
|
rs13395913
|
0.00015
|
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)
|
rs137882536
|
0.00015
|
NM_002334.4(LRP4):c.636C>T (p.Gly212=)
|
rs17848239
|
0.00015
|
NM_005592.4(MUSK):c.2484C>T (p.Pro828=)
|
rs779401827
|
0.00015
|
NM_020549.5(CHAT):c.1111+7C>T
|
rs767946637
|
0.00015
|
NM_144988.4(ALG14):c.354C>T (p.Thr118=)
|
rs372809921
|
0.00015
|
NM_198576.4(AGRN):c.125A>C (p.Glu42Ala)
|
rs757604648
|
0.00015
|
NM_198576.4(AGRN):c.4605G>T (p.Gly1535=)
|
rs373097825
|
0.00015
|
NM_198576.4(AGRN):c.5247G>A (p.Glu1749=)
|
rs367587156
|
0.00015
|
NM_198576.4(AGRN):c.5501C>T (p.Pro1834Leu)
|
rs145116277
|
0.00015
|
NM_000747.3(CHRNB1):c.1217+9A>G
|
rs145242880
|
0.00014
|
NM_000747.3(CHRNB1):c.1218-7C>T
|
rs779852242
|
0.00014
|
NM_001171613.2(PREPL):c.1221C>T (p.Val407=)
|
rs749676469
|
0.00014
|
NM_001382.4(DPAGT1):c.728+9G>A
|
rs369353136
|
0.00014
|
NM_002334.4(LRP4):c.4584-4G>A
|
rs368518969
|
0.00014
|
NM_002334.4(LRP4):c.4584-5C>T
|
rs183295145
|
0.00014
|
NM_005055.5(RAPSN):c.225G>A (p.Glu75=)
|
rs147923114
|
0.00014
|
NM_005592.4(MUSK):c.1885C>T (p.Leu629Phe)
|
rs34267283
|
0.00014
|
NM_005592.4(MUSK):c.206+10C>T
|
rs371617202
|
0.00014
|
NM_005592.4(MUSK):c.776A>G (p.Glu259Gly)
|
rs370071178
|
0.00014
|
NM_020549.5(CHAT):c.1038T>C (p.Arg346=)
|
rs367961073
|
0.00014
|
NM_020549.5(CHAT):c.494T>C (p.Ile165Thr)
|
rs148155075
|
0.00014
|
NM_173660.5(DOK7):c.1233T>C (p.Leu411=)
|
rs539706052
|
0.00014
|
NM_198576.4(AGRN):c.1395G>A (p.Pro465=)
|
rs367601178
|
0.00014
|
NM_198576.4(AGRN):c.1470C>T (p.Cys490=)
|
rs372048253
|
0.00014
|
NM_198576.4(AGRN):c.2681-10C>T
|
rs368080332
|
0.00014
|
NM_198576.4(AGRN):c.2997C>A (p.Ala999=)
|
rs141061406
|
0.00014
|
NM_198576.4(AGRN):c.3003C>T (p.Pro1001=)
|
rs375208869
|
0.00014
|
NM_198576.4(AGRN):c.4055G>A (p.Gly1352Asp)
|
rs200612540
|
0.00014
|
NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro)
|
rs201915086
|
0.00013
|
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=)
|
rs147585967
|
0.00013
|
NM_001171613.2(PREPL):c.702+17G>A
|
rs375710277
|
0.00013
|
NM_001244710.2(GFPT1):c.1483-11T>G
|
rs147573852
|
0.00013
|
NM_005592.4(MUSK):c.1806T>G (p.Pro602=)
|
rs374078491
|
0.00013
|
NM_198576.4(AGRN):c.1020T>C (p.Pro340=)
|
rs779277410
|
0.00013
|
NM_198576.4(AGRN):c.1929C>T (p.Cys643=)
|
rs371304780
|
0.00013
|
NM_198576.4(AGRN):c.4073C>T (p.Pro1358Leu)
|
rs755205199
|
0.00013
|
NM_198576.4(AGRN):c.4518G>A (p.Ala1506=)
|
rs376592885
|
0.00013
|
NM_000747.3(CHRNB1):c.6C>T (p.Thr2=)
|
rs755368307
|
0.00012
|
NM_001171613.2(PREPL):c.1155C>G (p.Leu385=)
|
rs149866553
|
0.00012
|
NM_002334.4(LRP4):c.2436T>C (p.Asp812=)
|
rs201159730
|
0.00012
|
NM_002334.4(LRP4):c.447C>T (p.Ser149=)
|
rs763246909
|
0.00012
|
NM_020549.5(CHAT):c.867G>A (p.Thr289=)
|
rs574542737
|
0.00012
|
NM_198576.4(AGRN):c.1557C>T (p.Ala519=)
|
rs146185843
|
0.00012
|
NM_198576.4(AGRN):c.2100C>T (p.Asp700=)
|
rs147021253
|
0.00012
|
NM_000080.4(CHRNE):c.699G>A (p.Ser233=)
|
rs375146171
|
0.00011
|
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)
|
rs149907018
|
0.00011
|
NM_000747.3(CHRNB1):c.1224G>A (p.Gln408=)
|
rs143027754
|
0.00011
|
NM_001171613.2(PREPL):c.-49+1808A>T
|
rs145087654
|
0.00011
|
NM_001171613.2(PREPL):c.1164T>C (p.His388=)
|
rs375606179
|
0.00011
|
NM_001171613.2(PREPL):c.393C>T (p.Thr131=)
|
rs200491145
|
0.00011
|
NM_001171613.2(PREPL):c.833A>G (p.Asn278Ser)
|
rs371862757
|
0.00011
|
NM_002334.4(LRP4):c.2763C>T (p.Asp921=)
|
rs532977473
|
0.00011
|
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=)
|
rs372105627
|
0.00011
|
NM_005592.4(MUSK):c.198T>C (p.Ile66=)
|
rs567402281
|
0.00011
|
NM_005677.4(COLQ):c.107-9263G>C
|
rs905126365
|
0.00011
|
NM_005677.4(COLQ):c.621A>C (p.Gly207=)
|
rs138830715
|
0.00011
|
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln)
|
rs201616704
|
0.00011
|
NM_020549.5(CHAT):c.1419C>T (p.Ser473=)
|
rs200175587
|
0.00011
|
NM_021815.5(SLC5A7):c.178+18C>T
|
rs372695865
|
0.00011
|
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=)
|
rs139476914
|
0.00011
|
NM_021815.5(SLC5A7):c.742-6G>A
|
rs371989232
|
0.00011
|
NM_021815.5(SLC5A7):c.786C>G (p.Leu262=)
|
rs190152555
|
0.00011
|
NM_173660.5(DOK7):c.1406C>A (p.Pro469His)
|
rs147185207
|
0.00011
|
NM_173660.5(DOK7):c.1434C>T (p.Gly478=)
|
rs781007084
|
0.00011
|
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)
|
rs576215366
|
0.00011
|
NM_198576.4(AGRN):c.2400T>C (p.Ser800=)
|
rs529944515
|
0.00011
|
NM_198576.4(AGRN):c.2537-15C>T
|
rs143289619
|
0.00011
|
NM_198576.4(AGRN):c.2680+16C>T
|
rs968487793
|
0.00011
|
NM_198576.4(AGRN):c.3327G>A (p.Ala1109=)
|
rs370487662
|
0.00011
|
NM_198576.4(AGRN):c.3517-7del
|
rs771963324
|
0.00011
|
NM_198576.4(AGRN):c.3654C>T (p.Asp1218=)
|
rs746158196
|
0.00011
|
NM_198576.4(AGRN):c.4455C>T (p.Asp1485=)
|
rs200690566
|
0.00011
|
NM_198576.4(AGRN):c.4767G>A (p.Lys1589=)
|
rs376247667
|
0.00011
|
NM_198576.4(AGRN):c.5838C>T (p.Pro1946=)
|
rs376329821
|
0.00011
|
NM_198576.4(AGRN):c.5925C>T (p.Thr1975=)
|
rs376944871
|
0.00011
|
NM_198576.4(AGRN):c.728-19G>A
|
rs759746835
|
0.00011
|
NM_000080.4(CHRNE):c.1033-14_1033-13insT
|
rs886053124
|
0.00010
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp)
|
rs141183965
|
0.00010
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000334.4(SCN4A):c.1607-20T>C
|
rs374159735
|
0.00010
|
NM_001171613.2(PREPL):c.1467G>A (p.Ala489=)
|
rs140525819
|
0.00010
|
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=)
|
rs150616375
|
0.00010
|
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=)
|
rs143496445
|
0.00010
|
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)
|
rs139525851
|
0.00010
|
NM_005055.5(RAPSN):c.640G>A (p.Val214Met)
|
rs201124957
|
0.00010
|
NM_005055.5(RAPSN):c.831C>T (p.Thr277=)
|
rs148078235
|
0.00010
|
NM_005055.5(RAPSN):c.864G>A (p.Ala288=)
|
rs147966227
|
0.00010
|
NM_020549.5(CHAT):c.119G>T (p.Gly40Val)
|
rs776411377
|
0.00010
|
NM_020549.5(CHAT):c.1275C>A (p.Ser425=)
|
rs767778694
|
0.00010
|
NM_020549.5(CHAT):c.435G>A (p.Thr145=)
|
rs77296560
|
0.00010
|
NM_020549.5(CHAT):c.474G>A (p.Gln158=)
|
rs143662656
|
0.00010
|
NM_020549.5(CHAT):c.580-9C>G
|
rs371756448
|
0.00010
|
NM_020549.5(CHAT):c.651C>T (p.Ala217=)
|
rs575515952
|
0.00010
|
NM_033087.4(ALG2):c.813C>T (p.Asp271=)
|
rs551873509
|
0.00010
|
NM_033087.4(ALG2):c.948G>A (p.Thr316=)
|
rs375746453
|
0.00010
|
NM_173660.5(DOK7):c.1470G>A (p.Ser490=)
|
rs543344505
|
0.00010
|
NM_173660.5(DOK7):c.332-13C>T
|
rs778628534
|
0.00010
|
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu)
|
rs560882592
|
0.00010
|
NM_198576.4(AGRN):c.1566C>T (p.Leu522=)
|
rs375687903
|
0.00010
|
NM_198576.4(AGRN):c.3516+7C>T
|
rs771959135
|
0.00010
|
NM_198576.4(AGRN):c.4516G>A (p.Ala1506Thr)
|
rs200182409
|
0.00010
|
NM_000080.4(CHRNE):c.1047G>A (p.Leu349=)
|
rs974390828
|
0.00009
|
NM_000080.4(CHRNE):c.1413C>T (p.Ser471=)
|
rs372792059
|
0.00009
|
NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr)
|
rs780592951
|
0.00009
|
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.1935C>T (p.Phe645=)
|
rs181494727
|
0.00009
|
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=)
|
rs776552053
|
0.00009
|
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=)
|
rs375349902
|
0.00009
|
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=)
|
rs540328974
|
0.00009
|
NM_000747.3(CHRNB1):c.1045-11C>G
|
rs375829198
|
0.00009
|
NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr)
|
rs201776800
|
0.00009
|
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)
|
rs200684767
|
0.00009
|
NM_000747.3(CHRNB1):c.754G>A (p.Val252Ile)
|
rs751045224
|
0.00009
|
NM_001145536.2(C17orf107):c.*1565G>A
|
rs756213541
|
0.00009
|
NM_001171613.2(PREPL):c.1059C>T (p.Arg353=)
|
rs191502460
|
0.00009
|
NM_001171613.2(PREPL):c.1887C>T (p.Phe629=)
|
rs368734097
|
0.00009
|
NM_001244710.2(GFPT1):c.*673A>G
|
rs533310642
|
0.00009
|
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=)
|
rs775046657
|
0.00009
|
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=)
|
rs61748895
|
0.00009
|
NM_002334.4(LRP4):c.2112C>T (p.Asp704=)
|
rs140757594
|
0.00009
|
NM_002334.4(LRP4):c.2216-14C>T
|
rs369714698
|
0.00009
|
NM_002334.4(LRP4):c.3537-13C>A
|
rs752687926
|
0.00009
|
NM_002334.4(LRP4):c.426G>A (p.Gln142=)
|
rs371955690
|
0.00009
|
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=)
|
rs376909913
|
0.00009
|
NM_005055.5(RAPSN):c.1166+13G>C
|
rs745720985
|
0.00009
|
NM_005592.4(MUSK):c.1689C>G (p.Pro563=)
|
rs376052538
|
0.00009
|
NM_005677.4(COLQ):c.246C>T (p.Leu82=)
|
rs372432709
|
0.00009
|
NM_005677.4(COLQ):c.654A>G (p.Lys218=)
|
rs112673051
|
0.00009
|
NM_020549.5(CHAT):c.1494G>A (p.Ser498=)
|
rs139722660
|
0.00009
|
NM_020549.5(CHAT):c.349C>T (p.Arg117Cys)
|
rs200361897
|
0.00009
|
NM_020549.5(CHAT):c.699-5T>C
|
rs1321871575
|
0.00009
|
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys)
|
rs147815999
|
0.00009
|
NM_021815.5(SLC5A7):c.1197G>A (p.Thr399=)
|
rs141187628
|
0.00009
|
NM_021815.5(SLC5A7):c.759A>G (p.Pro253=)
|
rs372145153
|
0.00009
|
NM_033087.4(ALG2):c.1038G>A (p.Ser346=)
|
rs200138333
|
0.00009
|
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys)
|
rs560463670
|
0.00009
|
NM_173660.5(DOK7):c.480C>T (p.Tyr160=)
|
rs550024569
|
0.00009
|
NM_173660.5(DOK7):c.561C>T (p.Ala187=)
|
rs140026458
|
0.00009
|
NM_173660.5(DOK7):c.597C>T (p.Ile199=)
|
rs771302576
|
0.00009
|
NM_198576.4(AGRN):c.1305G>A (p.Thr435=)
|
rs141694897
|
0.00009
|
NM_198576.4(AGRN):c.1449C>T (p.Asn483=)
|
rs759844691
|
0.00009
|
NM_198576.4(AGRN):c.2007C>T (p.Cys669=)
|
rs542999741
|
0.00009
|
NM_198576.4(AGRN):c.2667G>A (p.Ala889=)
|
rs144205055
|
0.00009
|
NM_198576.4(AGRN):c.2993C>T (p.Pro998Leu)
|
rs200807722
|
0.00009
|
NM_198576.4(AGRN):c.3033C>T (p.Thr1011=)
|
rs377422616
|
0.00009
|
NM_198576.4(AGRN):c.3324C>T (p.Ser1108=)
|
rs367614282
|
0.00009
|
NM_198576.4(AGRN):c.3752-5G>A
|
rs201733530
|
0.00009
|
NM_198576.4(AGRN):c.4228C>T (p.Leu1410=)
|
rs544008933
|
0.00009
|
NM_198576.4(AGRN):c.4488C>T (p.Gly1496=)
|
rs748221306
|
0.00009
|
NM_198576.4(AGRN):c.657C>T (p.Asn219=)
|
rs375812789
|
0.00009
|
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)
|
rs189442556
|
0.00008
|
NM_000334.4(SCN4A):c.1845+12del
|
rs756462178
|
0.00008
|
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=)
|
rs760183656
|
0.00008
|
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=)
|
rs186181122
|
0.00008
|
NM_000747.3(CHRNB1):c.684G>A (p.Arg228=)
|
rs765737031
|
0.00008
|
NM_000747.3(CHRNB1):c.687A>G (p.Glu229=)
|
rs749893562
|
0.00008
|
NM_001145536.2(C17orf107):c.*1566G>A
|
rs369060595
|
0.00008
|
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys)
|
rs773867044
|
0.00008
|
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)
|
rs377263230
|
0.00008
|
NM_002334.4(LRP4):c.282C>T (p.Asn94=)
|
rs17848224
|
0.00008
|
NM_005055.5(RAPSN):c.790-5T>C
|
rs369823690
|
0.00008
|
NM_005592.4(MUSK):c.1778+13A>G
|
rs371275445
|
0.00008
|
NM_005677.4(COLQ):c.367-20C>T
|
rs371561543
|
0.00008
|
NM_020549.5(CHAT):c.1086C>T (p.Ala362=)
|
rs374870408
|
0.00008
|
NM_020549.5(CHAT):c.1338T>C (p.Asp446=)
|
rs777957584
|
0.00008
|
NM_020549.5(CHAT):c.326C>T (p.Thr109Met)
|
rs542610160
|
0.00008
|
NM_020549.5(CHAT):c.678T>C (p.Pro226=)
|
rs142740451
|
0.00008
|
NM_021815.5(SLC5A7):c.636C>T (p.Val212=)
|
rs200804007
|
0.00008
|
NM_130811.4(SNAP25):c.366C>T (p.Asp122=)
|
rs377498338
|
0.00008
|
NM_173660.5(DOK7):c.213C>T (p.Tyr71=)
|
rs760236131
|
0.00008
|
NM_173660.5(DOK7):c.54+13C>T
|
rs912327595
|
0.00008
|
NM_173660.5(DOK7):c.772+8C>T
|
rs199769286
|
0.00008
|
NM_173660.5(DOK7):c.804A>G (p.Ser268=)
|
rs781113489
|
0.00008
|
NM_198576.4(AGRN):c.102C>T (p.Arg34=)
|
rs1033464887
|
0.00008
|
NM_198576.4(AGRN):c.1281C>T (p.Pro427=)
|
rs767153644
|
0.00008
|
NM_198576.4(AGRN):c.1604-9C>T
|
rs748417950
|
0.00008
|
NM_198576.4(AGRN):c.1999+18G>A
|
rs375682905
|
0.00008
|
NM_198576.4(AGRN):c.2537-4A>C
|
rs200243468
|
0.00008
|
NM_198576.4(AGRN):c.2829A>G (p.Thr943=)
|
rs774682347
|
0.00008
|
NM_198576.4(AGRN):c.807G>A (p.Ser269=)
|
rs746098476
|
0.00008
|
NM_000080.4(CHRNE):c.1278C>T (p.Ala426=)
|
rs751593666
|
0.00007
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
NM_001171613.2(PREPL):c.1827+15C>T
|
rs376714746
|
0.00007
|
NM_001244710.2(GFPT1):c.1483-8T>C
|
rs569347921
|
0.00007
|
NM_001244710.2(GFPT1):c.739+6A>G
|
rs542110221
|
0.00007
|
NM_002334.4(LRP4):c.660A>G (p.Ser220=)
|
rs200129866
|
0.00007
|
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)
|
rs201796294
|
0.00007
|
NM_005677.4(COLQ):c.159G>A (p.Leu53=)
|
rs745419074
|
0.00007
|
NM_005677.4(COLQ):c.366+9C>T
|
rs778157663
|
0.00007
|
NM_020549.5(CHAT):c.117G>C (p.Ser39=)
|
rs768179285
|
0.00007
|
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)
|
rs757733319
|
0.00007
|
NM_020549.5(CHAT):c.207C>T (p.Pro69=)
|
rs1490764401
|
0.00007
|
NM_021815.5(SLC5A7):c.471C>T (p.Ile157=)
|
rs904669194
|
0.00007
|
NM_021815.5(SLC5A7):c.54T>C (p.Ile18=)
|
rs370177227
|
0.00007
|
NM_021815.5(SLC5A7):c.597+14C>A
|
rs370808911
|
0.00007
|
NM_033087.4(ALG2):c.348+20G>C
|
rs768131229
|
0.00007
|
NM_144988.4(ALG14):c.36A>G (p.Gly12=)
|
rs368851775
|
0.00007
|
NM_173660.5(DOK7):c.297G>A (p.Ala99=)
|
rs201351460
|
0.00007
|
NM_173660.5(DOK7):c.903A>C (p.Pro301=)
|
rs145040126
|
0.00007
|
NM_198576.4(AGRN):c.1743C>T (p.His581=)
|
rs201239522
|
0.00007
|
NM_198576.4(AGRN):c.1884C>T (p.Pro628=)
|
rs141590368
|
0.00007
|
NM_198576.4(AGRN):c.2372-12C>A
|
rs186812808
|
0.00007
|
NM_198576.4(AGRN):c.2559C>T (p.Gly853=)
|
rs369198471
|
0.00007
|
NM_198576.4(AGRN):c.3795T>A (p.Ile1265=)
|
rs767379743
|
0.00007
|
NM_198576.4(AGRN):c.3810G>A (p.Thr1270=)
|
rs369304443
|
0.00007
|
NM_198576.4(AGRN):c.4050C>T (p.Gly1350=)
|
rs750911464
|
0.00007
|
NM_198576.4(AGRN):c.5280G>A (p.Lys1760=)
|
rs759020548
|
0.00007
|
NM_198576.4(AGRN):c.5589C>T (p.Asp1863=)
|
rs148105695
|
0.00007
|
NM_198576.4(AGRN):c.6027C>T (p.Tyr2009=)
|
rs535807619
|
0.00007
|
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=)
|
rs745744138
|
0.00006
|
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)
|
rs767374241
|
0.00006
|
NM_000080.4(CHRNE):c.1419C>A (p.Ile473=)
|
rs750097789
|
0.00006
|
NM_000080.4(CHRNE):c.174G>A (p.Thr58=)
|
rs373275223
|
0.00006
|
NM_000080.4(CHRNE):c.480G>A (p.Gln160=)
|
rs754300536
|
0.00006
|
NM_000080.4(CHRNE):c.726C>T (p.Phe242=)
|
rs150133823
|
0.00006
|
NM_000080.4(CHRNE):c.804C>T (p.Ala268=)
|
rs775149431
|
0.00006
|
NM_000080.4(CHRNE):c.948G>A (p.Thr316=)
|
rs144207552
|
0.00006
|
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=)
|
rs150307926
|
0.00006
|
NM_000747.3(CHRNB1):c.300G>T (p.Ser100=)
|
rs376099204
|
0.00006
|
NM_000747.3(CHRNB1):c.59-14C>T
|
rs770468832
|
0.00006
|
NM_000747.3(CHRNB1):c.723C>A (p.Ile241=)
|
rs768773947
|
0.00006
|
NM_000747.3(CHRNB1):c.771C>T (p.Ile257=)
|
rs767109873
|
0.00006
|
NM_001171613.2(PREPL):c.1455G>A (p.Glu485=)
|
rs376716463
|
0.00006
|
NM_001171613.2(PREPL):c.1647C>T (p.His549=)
|
rs950736240
|
0.00006
|
NM_001171613.2(PREPL):c.1806A>G (p.Val602=)
|
rs771937635
|
0.00006
|
NM_001171613.2(PREPL):c.282C>G (p.Thr94=)
|
rs200854824
|
0.00006
|
NM_001171613.2(PREPL):c.350-12A>G
|
rs746840354
|
0.00006
|
NM_001244710.2(GFPT1):c.1035G>A (p.Lys345=)
|
rs373488949
|
0.00006
|
NM_001244710.2(GFPT1):c.1894-9C>T
|
rs765467067
|
0.00006
|
NM_001244710.2(GFPT1):c.54A>G (p.Glu18=)
|
rs199770054
|
0.00006
|
NM_001244710.2(GFPT1):c.845+7T>C
|
rs371199882
|
0.00006
|
NM_001382.4(DPAGT1):c.351A>G (p.Val117=)
|
rs146610900
|
0.00006
|
NM_002334.4(LRP4):c.1023C>T (p.Ser341=)
|
rs200097836
|
0.00006
|
NM_002334.4(LRP4):c.1048+20G>A
|
rs199512829
|
0.00006
|
NM_002334.4(LRP4):c.1584C>T (p.Thr528=)
|
rs574108233
|
0.00006
|
NM_002334.4(LRP4):c.177C>T (p.Asp59=)
|
rs373625784
|
0.00006
|
NM_002334.4(LRP4):c.2318G>A (p.Arg773His)
|
rs374890595
|
0.00006
|
NM_002334.4(LRP4):c.3756G>A (p.Val1252=)
|
rs75923112
|
0.00006
|
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=)
|
rs201016203
|
0.00006
|
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val)
|
rs779526693
|
0.00006
|
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=)
|
rs17848229
|
0.00006
|
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=)
|
rs372569948
|
0.00006
|
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)
|
rs753496184
|
0.00006
|
NM_002334.4(LRP4):c.612C>T (p.Ile204=)
|
rs757902891
|
0.00006
|
NM_005055.5(RAPSN):c.30C>T (p.Ile10=)
|
rs768838402
|
0.00006
|
NM_005055.5(RAPSN):c.756C>T (p.Phe252=)
|
rs758794718
|
0.00006
|
NM_005055.5(RAPSN):c.948C>T (p.Ala316=)
|
rs374676714
|
0.00006
|
NM_005592.4(MUSK):c.1863G>A (p.Ala621=)
|
rs368049319
|
0.00006
|
NM_005592.4(MUSK):c.570T>C (p.Cys190=)
|
rs746340721
|
0.00006
|
NM_005592.4(MUSK):c.913+10C>G
|
rs761707078
|
0.00006
|
NM_005677.4(COLQ):c.393+12G>A
|
rs372145044
|
0.00006
|
NM_005677.4(COLQ):c.912C>T (p.Tyr304=)
|
rs886058099
|
0.00006
|
NM_020549.5(CHAT):c.1032C>T (p.Asp344=)
|
rs145203976
|
0.00006
|
NM_020549.5(CHAT):c.1266C>T (p.Tyr422=)
|
rs201381950
|
0.00006
|
NM_020549.5(CHAT):c.1671G>A (p.Ala557=)
|
rs777066390
|
0.00006
|
NM_020549.5(CHAT):c.1814G>A (p.Arg605His)
|
rs199926163
|
0.00006
|
NM_020549.5(CHAT):c.968G>A (p.Arg323His)
|
rs200176236
|
0.00006
|
NM_021815.5(SLC5A7):c.1434A>G (p.Pro478=)
|
rs761926640
|
0.00006
|
NM_021815.5(SLC5A7):c.1467A>G (p.Leu489=)
|
rs181802200
|
0.00006
|
NM_033087.4(ALG2):c.255C>G (p.Gly85=)
|
rs562977386
|
0.00006
|
NM_033087.4(ALG2):c.60C>T (p.Leu20=)
|
rs200338773
|
0.00006
|
NM_033087.4(ALG2):c.981T>C (p.Phe327=)
|
rs34382969
|
0.00006
|
NM_130811.4(SNAP25):c.115-20C>G
|
rs201555996
|
0.00006
|
NM_144988.4(ALG14):c.609A>G (p.Lys203=)
|
rs200959923
|
0.00006
|
NM_144988.4(ALG14):c.9C>T (p.Cys3=)
|
rs780164458
|
0.00006
|
NM_173660.5(DOK7):c.1014C>T (p.Ser338=)
|
rs768867580
|
0.00006
|
NM_173660.5(DOK7):c.1107G>A (p.Leu369=)
|
rs778918520
|
0.00006
|
NM_173660.5(DOK7):c.1170C>T (p.Pro390=)
|
rs199525739
|
0.00006
|
NM_173660.5(DOK7):c.532+9G>A
|
rs374795386
|
0.00006
|
NM_173660.5(DOK7):c.54+32G>C
|
rs763739780
|
0.00006
|
NM_173660.5(DOK7):c.639G>A (p.Arg213=)
|
rs1411499971
|
0.00006
|
NM_173660.5(DOK7):c.653-9C>G
|
rs1350076940
|
0.00006
|
NM_173660.5(DOK7):c.882G>A (p.Thr294=)
|
rs369425286
|
0.00006
|
NM_173660.5(DOK7):c.996C>T (p.Arg332=)
|
rs781199587
|
0.00006
|
NM_198576.4(AGRN):c.1177+7G>A
|
rs369788908
|
0.00006
|
NM_198576.4(AGRN):c.1384+11C>T
|
rs757374706
|
0.00006
|
NM_198576.4(AGRN):c.1385-13G>A
|
rs773483670
|
0.00006
|
NM_198576.4(AGRN):c.1539C>T (p.Cys513=)
|
rs370615022
|
0.00006
|
NM_198576.4(AGRN):c.1659C>T (p.Cys553=)
|
rs541915367
|
0.00006
|
NM_198576.4(AGRN):c.1695C>T (p.Pro565=)
|
rs778573221
|
0.00006
|
NM_198576.4(AGRN):c.1749C>T (p.His583=)
|
rs777039259
|
0.00006
|
NM_198576.4(AGRN):c.1989G>A (p.Pro663=)
|
rs374358844
|
0.00006
|
NM_198576.4(AGRN):c.2538C>G (p.Pro846=)
|
rs376387543
|
0.00006
|
NM_198576.4(AGRN):c.2805+17G>A
|
rs373750601
|
0.00006
|
NM_198576.4(AGRN):c.3516+8G>A
|
rs199620555
|
0.00006
|
NM_198576.4(AGRN):c.4167C>T (p.Arg1389=)
|
rs74726601
|
0.00006
|
NM_198576.4(AGRN):c.4338C>T (p.Ala1446=)
|
rs755467815
|
0.00006
|
NM_198576.4(AGRN):c.4371G>A (p.Leu1457=)
|
rs774243334
|
0.00006
|
NM_198576.4(AGRN):c.4542C>T (p.Ala1514=)
|
rs937680674
|
0.00006
|
NM_198576.4(AGRN):c.464-7C>T
|
rs753696645
|
0.00006
|
NM_198576.4(AGRN):c.4731G>A (p.Pro1577=)
|
rs115885544
|
0.00006
|
NM_198576.4(AGRN):c.4989G>A (p.Ala1663=)
|
rs371635309
|
0.00006
|
NM_198576.4(AGRN):c.5274C>T (p.Asn1758=)
|
rs776201093
|
0.00006
|
NM_198576.4(AGRN):c.5370+18G>A
|
rs370604699
|
0.00006
|
NM_198576.4(AGRN):c.5370+9G>A
|
rs774988688
|
0.00006
|
NM_198576.4(AGRN):c.5564-18C>T
|
rs187269631
|
0.00006
|
NM_198576.4(AGRN):c.5651+14C>T
|
rs766872717
|
0.00006
|
NM_000080.4(CHRNE):c.1033-20A>G
|
rs1449745005
|
0.00005
|
NM_000080.4(CHRNE):c.462C>T (p.Tyr154=)
|
rs781427923
|
0.00005
|
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)
|
rs760067411
|
0.00005
|
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)
|
rs773864470
|
0.00005
|
NM_000334.4(SCN4A):c.704-8G>A
|
rs762393514
|
0.00005
|
NM_000747.3(CHRNB1):c.1365+16G>T
|
rs749948799
|
0.00005
|
NM_000747.3(CHRNB1):c.852G>T (p.Leu284=)
|
rs145826933
|
0.00005
|
NM_001171613.2(PREPL):c.-49+1866C>T
|
rs202213424
|
0.00005
|
NM_001171613.2(PREPL):c.1665C>T (p.Asn555=)
|
rs375673588
|
0.00005
|
NM_001171613.2(PREPL):c.1828-17T>A
|
rs746448655
|
0.00005
|
NM_001244710.2(GFPT1):c.739+11C>T
|
rs576618872
|
0.00005
|
NM_001382.4(DPAGT1):c.644-10G>A
|
rs192269738
|
0.00005
|
NM_002334.4(LRP4):c.1437C>T (p.Arg479=)
|
rs141108617
|
0.00005
|
NM_002334.4(LRP4):c.1779C>T (p.Ala593=)
|
rs202063944
|
0.00005
|
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=)
|
rs148361325
|
0.00005
|
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=)
|
rs779045515
|
0.00005
|
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=)
|
rs752801557
|
0.00005
|
NM_002334.4(LRP4):c.4584-15T>C
|
rs777314555
|
0.00005
|
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)
|
rs200514161
|
0.00005
|
NM_002334.4(LRP4):c.922+13G>A
|
rs771013783
|
0.00005
|
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)
|
rs190548363
|
0.00005
|
NM_005592.4(MUSK):c.1259G>A (p.Gly420Glu)
|
rs373421409
|
0.00005
|
NM_005592.4(MUSK):c.1542T>G (p.Thr514=)
|
rs762656586
|
0.00005
|
NM_005592.4(MUSK):c.1674G>A (p.Pro558=)
|
rs541645382
|
0.00005
|
NM_005592.4(MUSK):c.1862C>T (p.Ala621Val)
|
rs777853943
|
0.00005
|
NM_005592.4(MUSK):c.206+9T>C
|
rs753218110
|
0.00005
|
NM_005592.4(MUSK):c.486+12T>A
|
rs757179369
|
0.00005
|
NM_005592.4(MUSK):c.885C>T (p.Ala295=)
|
rs756029372
|
0.00005
|
NM_020549.5(CHAT):c.114G>C (p.Gln38His)
|
rs746540866
|
0.00005
|
NM_020549.5(CHAT):c.1230C>T (p.Gly410=)
|
rs779724822
|
0.00005
|
NM_020549.5(CHAT):c.156C>T (p.Ala52=)
|
rs1286222980
|
0.00005
|
NM_020549.5(CHAT):c.794G>A (p.Gly265Glu)
|
rs777336258
|
0.00005
|
NM_021815.5(SLC5A7):c.178+16G>C
|
rs756377938
|
0.00005
|
NM_021815.5(SLC5A7):c.351G>A (p.Pro117=)
|
rs368109143
|
0.00005
|
NM_033087.4(ALG2):c.1200T>C (p.Pro400=)
|
rs764916897
|
0.00005
|
NM_130811.4(SNAP25):c.513C>T (p.Ile171=)
|
rs372122045
|
0.00005
|
NM_144988.4(ALG14):c.540G>A (p.Thr180=)
|
rs767937526
|
0.00005
|
NM_173660.5(DOK7):c.201C>T (p.Pro67=)
|
rs770153614
|
0.00005
|
NM_173660.5(DOK7):c.331+16C>T
|
rs577280323
|
0.00005
|
NM_173660.5(DOK7):c.378C>T (p.Ser126=)
|
rs753043554
|
0.00005
|
NM_173660.5(DOK7):c.653-18G>C
|
rs762076600
|
0.00005
|
NM_173660.5(DOK7):c.822C>T (p.Asp274=)
|
rs141732576
|
0.00005
|
NM_198576.4(AGRN):c.1567G>A (p.Gly523Arg)
|
rs377608464
|
0.00005
|
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser)
|
rs145162376
|
0.00005
|
NM_198576.4(AGRN):c.3165C>T (p.Ser1055=)
|
rs753211720
|
0.00005
|
NM_198576.4(AGRN):c.3251-11C>T
|
rs780751901
|
0.00005
|
NM_198576.4(AGRN):c.3388+10C>T
|
rs192594415
|
0.00005
|
NM_198576.4(AGRN):c.4113C>T (p.Gly1371=)
|
rs765481875
|
0.00005
|
NM_198576.4(AGRN):c.4298+11A>T
|
rs369279324
|
0.00005
|
NM_198576.4(AGRN):c.4572C>T (p.Asp1524=)
|
rs755754244
|
0.00005
|
NM_198576.4(AGRN):c.5076G>A (p.Ser1692=)
|
rs376271121
|
0.00005
|
NM_198576.4(AGRN):c.5799C>T (p.Asn1933=)
|
rs755986768
|
0.00005
|
NM_198576.4(AGRN):c.675G>A (p.Arg225=)
|
rs922712578
|
0.00005
|
NM_000080.4(CHRNE):c.1032+17C>T
|
rs372131102
|
0.00004
|
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)
|
rs772143528
|
0.00004
|
NM_000080.4(CHRNE):c.1137C>G (p.Leu379=)
|
rs368940455
|
0.00004
|
NM_000080.4(CHRNE):c.1220-6C>T
|
rs56251503
|
0.00004
|
NM_000080.4(CHRNE):c.1332G>C (p.Val444=)
|
rs376975376
|
0.00004
|
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=)
|
rs753202734
|
0.00004
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=)
|
rs377178938
|
0.00004
|
NM_000080.4(CHRNE):c.15G>A (p.Pro5=)
|
rs756933520
|
0.00004
|
NM_000080.4(CHRNE):c.46+8C>T
|
rs371778870
|
0.00004
|
NM_000080.4(CHRNE):c.543C>G (p.Ala181=)
|
rs766195083
|
0.00004
|
NM_000080.4(CHRNE):c.780C>T (p.Leu260=)
|
rs766792066
|
0.00004
|
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser)
|
rs745821689
|
0.00004
|
NM_000080.4(CHRNE):c.951C>T (p.Leu317=)
|
rs757563966
|
0.00004
|
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=)
|
rs375655445
|
0.00004
|
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)
|
rs80266947
|
0.00004
|
NM_000334.4(SCN4A):c.2376+10G>A
|
rs1194053149
|
0.00004
|
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=)
|
rs201346556
|
0.00004
|
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=)
|
rs538968877
|
0.00004
|
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)
|
rs201411232
|
0.00004
|
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=)
|
rs761930114
|
0.00004
|
NM_000747.3(CHRNB1):c.1027C>A (p.Pro343Thr)
|
rs760292772
|
0.00004
|
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)
|
rs202144045
|
0.00004
|
NM_000747.3(CHRNB1):c.1248G>A (p.Leu416=)
|
rs774757392
|
0.00004
|
NM_000747.3(CHRNB1):c.909A>G (p.Leu303=)
|
rs774773039
|
0.00004
|
NM_000747.3(CHRNB1):c.90C>T (p.Leu30=)
|
rs753018299
|
0.00004
|
NM_001145536.2(C17orf107):c.*2079G>A
|
rs1415170062
|
0.00004
|
NM_001171613.2(PREPL):c.143-18G>A
|
rs570783617
|
0.00004
|
NM_001171613.2(PREPL):c.1623A>G (p.Lys541=)
|
rs768191033
|
0.00004
|
NM_001171613.2(PREPL):c.1725C>T (p.Ile575=)
|
rs775908458
|
0.00004
|
NM_001244710.2(GFPT1):c.1041A>T (p.Ile347=)
|
rs772941507
|
0.00004
|
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)
|
rs537066687
|
0.00004
|
NM_001244710.2(GFPT1):c.768C>T (p.Leu256=)
|
rs141520017
|
0.00004
|
NM_001244710.2(GFPT1):c.845+18A>C
|
rs373520133
|
0.00004
|
NM_001244710.2(GFPT1):c.870C>T (p.Arg290=)
|
rs754486756
|
0.00004
|
NM_001382.4(DPAGT1):c.162-6C>T
|
rs761454590
|
0.00004
|
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=)
|
rs756818317
|
0.00004
|
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=)
|
rs773853061
|
0.00004
|
NM_002334.4(LRP4):c.1086C>T (p.Asn362=)
|
rs556905132
|
0.00004
|
NM_002334.4(LRP4):c.1308G>A (p.Leu436=)
|
rs750627555
|
0.00004
|
NM_002334.4(LRP4):c.132C>T (p.Cys44=)
|
rs760552036
|
0.00004
|
NM_002334.4(LRP4):c.1668C>T (p.Pro556=)
|
rs766741394
|
0.00004
|
NM_002334.4(LRP4):c.1932C>T (p.Phe644=)
|
rs1011484252
|
0.00004
|
NM_002334.4(LRP4):c.2093-16T>C
|
rs751168409
|
0.00004
|
NM_002334.4(LRP4):c.2202C>T (p.His734=)
|
rs757999800
|
0.00004
|
NM_002334.4(LRP4):c.2358C>T (p.His786=)
|
rs371677748
|
0.00004
|
NM_002334.4(LRP4):c.2535A>C (p.Thr845=)
|
rs145557677
|
0.00004
|
NM_002334.4(LRP4):c.2766C>T (p.Ala922=)
|
rs773599397
|
0.00004
|
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=)
|
rs768821263
|
0.00004
|
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=)
|
rs185084650
|
0.00004
|
NM_002334.4(LRP4):c.4665T>C (p.His1555=)
|
rs145206396
|
0.00004
|
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=)
|
rs780329570
|
0.00004
|
NM_002334.4(LRP4):c.5088-20C>T
|
rs370004451
|
0.00004
|
NM_002334.4(LRP4):c.53-7C>T
|
rs745407997
|
0.00004
|
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=)
|
rs751494811
|
0.00004
|
NM_002334.4(LRP4):c.933A>G (p.Gln311=)
|
rs375108263
|
0.00004
|
NM_003081.5(SNAP25):c.73-9A>G
|
rs371883444
|
0.00004
|
NM_005055.5(RAPSN):c.216G>A (p.Thr72=)
|
rs141877523
|
0.00004
|
NM_005055.5(RAPSN):c.690+19G>A
|
rs183974908
|
0.00004
|
NM_005055.5(RAPSN):c.708G>A (p.Ala236=)
|
rs770777539
|
0.00004
|
NM_005592.4(MUSK):c.1323T>C (p.His441=)
|
rs369015815
|
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.2403G>A (p.Gln801=)
|
rs372194698
|
0.00004
|
NM_005592.4(MUSK):c.358+19C>T
|
rs376236950
|
0.00004
|
NM_005592.4(MUSK):c.397A>G (p.Ile133Val)
|
rs570136508
|
0.00004
|
NM_005592.4(MUSK):c.453A>G (p.Ser151=)
|
rs373961420
|
0.00004
|
NM_005592.4(MUSK):c.486+15T>C
|
rs369902312
|
0.00004
|
NM_005677.4(COLQ):c.1164C>T (p.Asp388=)
|
rs149852377
|
0.00004
|
NM_005677.4(COLQ):c.1196-15_1196-13del
|
rs758190106
|
0.00004
|
NM_005677.4(COLQ):c.250C>T (p.Leu84=)
|
rs369308750
|
0.00004
|
NM_005677.4(COLQ):c.522C>T (p.Gly174=)
|
rs113843907
|
0.00004
|
NM_005677.4(COLQ):c.600+15C>T
|
rs759209415
|
0.00004
|
NM_005677.4(COLQ):c.858G>T (p.Gly286=)
|
rs756396914
|
0.00004
|
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
|
rs779668516
|
0.00004
|
NM_020549.5(CHAT):c.1074G>A (p.Arg358=)
|
rs371905802
|
0.00004
|
NM_020549.5(CHAT):c.1467G>A (p.Pro489=)
|
rs558057516
|
0.00004
|
NM_020549.5(CHAT):c.1512-5C>A
|
rs187862179
|
0.00004
|
NM_020549.5(CHAT):c.1668C>T (p.Ser556=)
|
rs55702495
|
0.00004
|
NM_020549.5(CHAT):c.1971T>C (p.Thr657=)
|
rs368254411
|
0.00004
|
NM_020549.5(CHAT):c.287-4C>G
|
rs779267880
|
0.00004
|
NM_020549.5(CHAT):c.388-4C>T
|
rs369932994
|
0.00004
|
NM_020549.5(CHAT):c.414G>A (p.Pro138=)
|
rs199675090
|
0.00004
|
NM_020549.5(CHAT):c.886A>G (p.Ser296Gly)
|
rs141599748
|
0.00004
|
NM_021815.5(SLC5A7):c.1119G>A (p.Ser373=)
|
rs759819899
|
0.00004
|
NM_021815.5(SLC5A7):c.178+17C>A
|
rs555753695
|
0.00004
|
NM_021815.5(SLC5A7):c.498C>A (p.Ile166=)
|
rs138947334
|
0.00004
|
NM_021815.5(SLC5A7):c.540G>C (p.Gly180=)
|
rs574474443
|
0.00004
|
NM_021815.5(SLC5A7):c.598-3C>T
|
rs191434558
|
0.00004
|
NM_021815.5(SLC5A7):c.810T>C (p.Ala270=)
|
rs146618904
|
0.00004
|
NM_033087.4(ALG2):c.1116A>G (p.Ala372=)
|
rs573570972
|
0.00004
|
NM_033087.4(ALG2):c.657A>C (p.Leu219=)
|
rs201667181
|
0.00004
|
NM_033087.4(ALG2):c.687C>T (p.Leu229=)
|
rs762613857
|
0.00004
|
NM_130811.4(SNAP25):c.462C>T (p.Ser154=)
|
rs201639889
|
0.00004
|
NM_130811.4(SNAP25):c.552+9G>A
|
rs375161376
|
0.00004
|
NM_173660.5(DOK7):c.1023C>T (p.Ala341=)
|
rs773612095
|
0.00004
|
NM_173660.5(DOK7):c.1386C>T (p.Ser462=)
|
rs776733631
|
0.00004
|
NM_173660.5(DOK7):c.257C>T (p.Ala86Val)
|
rs575986565
|
0.00004
|
NM_173660.5(DOK7):c.54+10C>T
|
rs1260785223
|
0.00004
|
NM_173660.5(DOK7):c.652+14C>G
|
rs368188578
|
0.00004
|
NM_173660.5(DOK7):c.772+20T>C
|
rs376466543
|
0.00004
|
NM_173660.5(DOK7):c.773-7G>A
|
rs775008753
|
0.00004
|
NM_198576.4(AGRN):c.1380G>A (p.Pro460=)
|
rs753038414
|
0.00004
|
NM_198576.4(AGRN):c.1586C>T (p.Ala529Val)
|
rs752221979
|
0.00004
|
NM_198576.4(AGRN):c.1638C>T (p.Cys546=)
|
rs142440782
|
0.00004
|
NM_198576.4(AGRN):c.1710C>T (p.Asp570=)
|
rs758511854
|
0.00004
|
NM_198576.4(AGRN):c.1999+8G>A
|
rs757759138
|
0.00004
|
NM_198576.4(AGRN):c.2349C>T (p.Gly783=)
|
rs773501739
|
0.00004
|
NM_198576.4(AGRN):c.2371+12A>G
|
rs375177822
|
0.00004
|
NM_198576.4(AGRN):c.2631T>C (p.Cys877=)
|
rs545849353
|
0.00004
|
NM_198576.4(AGRN):c.2646C>T (p.Asp882=)
|
rs376524541
|
0.00004
|
NM_198576.4(AGRN):c.288C>G (p.Gly96=)
|
rs369704878
|
0.00004
|
NM_198576.4(AGRN):c.2911+13G>A
|
rs370369992
|
0.00004
|
NM_198576.4(AGRN):c.3006C>T (p.Gly1002=)
|
rs774744948
|
0.00004
|
NM_198576.4(AGRN):c.3162G>A (p.Ala1054=)
|
rs765687675
|
0.00004
|
NM_198576.4(AGRN):c.3251-13C>T
|
rs770438199
|
0.00004
|
NM_198576.4(AGRN):c.3354G>A (p.Thr1118=)
|
rs774878358
|
0.00004
|
NM_198576.4(AGRN):c.3366C>T (p.Asp1122=)
|
rs374090990
|
0.00004
|
NM_198576.4(AGRN):c.3543C>T (p.Asp1181=)
|
rs775453668
|
0.00004
|
NM_198576.4(AGRN):c.3552G>A (p.Lys1184=)
|
rs200738126
|
0.00004
|
NM_198576.4(AGRN):c.3752-6C>T
|
rs779516004
|
0.00004
|
NM_198576.4(AGRN):c.3861G>A (p.Arg1287=)
|
rs759115477
|
0.00004
|
NM_198576.4(AGRN):c.3867G>A (p.Pro1289=)
|
rs372005493
|
0.00004
|
NM_198576.4(AGRN):c.4125G>A (p.Pro1375=)
|
rs375628080
|
0.00004
|
NM_198576.4(AGRN):c.4314G>A (p.Ser1438=)
|
rs375067610
|
0.00004
|
NM_198576.4(AGRN):c.4476C>T (p.Asp1492=)
|
rs764644357
|
0.00004
|
NM_198576.4(AGRN):c.4644C>T (p.Cys1548=)
|
rs752280977
|
0.00004
|
NM_198576.4(AGRN):c.4879+10G>A
|
rs776398649
|
0.00004
|
NM_198576.4(AGRN):c.498G>A (p.Pro166=)
|
rs775955535
|
0.00004
|
NM_198576.4(AGRN):c.5169C>A (p.Ala1723=)
|
rs751301262
|
0.00004
|
NM_198576.4(AGRN):c.5379C>T (p.Leu1793=)
|
rs748809971
|
0.00004
|
NM_198576.4(AGRN):c.5651+11A>G
|
rs552512280
|
0.00004
|
NM_198576.4(AGRN):c.672G>A (p.Gln224=)
|
rs761768203
|
0.00004
|
NM_198576.4(AGRN):c.711C>T (p.Leu237=)
|
rs779843530
|
0.00004
|
NM_000080.4(CHRNE):c.1056C>T (p.Arg352=)
|
rs558633663
|
0.00003
|
NM_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
NM_000080.4(CHRNE):c.991C>A (p.Arg331=)
|
rs121909515
|
0.00003
|
NM_000334.4(SCN4A):c.3318+15G>A
|
rs371928013
|
0.00003
|
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=)
|
rs267604989
|
0.00003
|
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=)
|
rs372442108
|
0.00003
|
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=)
|
rs774089795
|
0.00003
|
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)
|
rs371104286
|
0.00003
|
NM_000747.3(CHRNB1):c.1116G>A (p.Glu372=)
|
rs761970777
|
0.00003
|
NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg)
|
rs555348704
|
0.00003
|
NM_001145536.2(C17orf107):c.*982G>A
|
rs1175424462
|
0.00003
|
NM_001171613.2(PREPL):c.-49+1724A>C
|
rs771527567
|
0.00003
|
NM_001171613.2(PREPL):c.143-6A>G
|
rs766088205
|
0.00003
|
NM_001171613.2(PREPL):c.1500C>G (p.Leu500=)
|
rs751760140
|
0.00003
|
NM_001171613.2(PREPL):c.1753+17A>C
|
rs752148765
|
0.00003
|
NM_001171613.2(PREPL):c.420C>T (p.Asp140=)
|
rs550765961
|
0.00003
|
NM_001244710.2(GFPT1):c.429C>T (p.Phe143=)
|
rs1207796251
|
0.00003
|
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=)
|
rs759065498
|
0.00003
|
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=)
|
rs759431850
|
0.00003
|
NM_001244710.2(GFPT1):c.685+15A>G
|
rs754593037
|
0.00003
|
NM_001244710.2(GFPT1):c.686-8A>G
|
rs747052866
|
0.00003
|
NM_001244710.2(GFPT1):c.740-7G>A
|
rs1389698795
|
0.00003
|
NM_001244710.2(GFPT1):c.846-14T>C
|
rs373534126
|
0.00003
|
NM_001244710.2(GFPT1):c.960C>T (p.Pro320=)
|
rs140814934
|
0.00003
|
NM_001382.4(DPAGT1):c.283-9C>T
|
rs746355462
|
0.00003
|
NM_001382.4(DPAGT1):c.496+17C>T
|
rs749725470
|
0.00003
|
NM_001382.4(DPAGT1):c.644-15T>A
|
rs749199504
|
0.00003
|
NM_001382.4(DPAGT1):c.918-8C>T
|
rs531346717
|
0.00003
|
NM_002334.4(LRP4):c.1284C>T (p.Pro428=)
|
rs374136996
|
0.00003
|
NM_002334.4(LRP4):c.1368C>T (p.His456=)
|
rs570223328
|
0.00003
|
NM_002334.4(LRP4):c.3136+10A>G
|
rs377543577
|
0.00003
|
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=)
|
rs570258125
|
0.00003
|
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=)
|
rs377557349
|
0.00003
|
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=)
|
rs751449110
|
0.00003
|
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=)
|
rs952249452
|
0.00003
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
NM_002334.4(LRP4):c.501C>T (p.Cys167=)
|
rs369739623
|
0.00003
|
NM_002334.4(LRP4):c.504C>T (p.Asp168=)
|
rs749048211
|
0.00003
|
NM_002334.4(LRP4):c.5385+13A>G
|
rs370288647
|
0.00003
|
NM_002334.4(LRP4):c.768T>C (p.Cys256=)
|
rs774343834
|
0.00003
|
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=)
|
rs565321918
|
0.00003
|
NM_005055.5(RAPSN):c.246C>T (p.Leu82=)
|
rs780420252
|
0.00003
|
NM_005055.5(RAPSN):c.567G>A (p.Ala189=)
|
rs886043559
|
0.00003
|
NM_005055.5(RAPSN):c.705C>T (p.Ile235=)
|
rs562539081
|
0.00003
|
NM_005055.5(RAPSN):c.717C>T (p.His239=)
|
rs576729861
|
0.00003
|
NM_005055.5(RAPSN):c.729A>G (p.Pro243=)
|
rs1297914613
|
0.00003
|
NM_005055.5(RAPSN):c.966+16G>A
|
rs759757902
|
0.00003
|
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)
|
rs368044285
|
0.00003
|
NM_005592.4(MUSK):c.2111G>A (p.Cys704Tyr)
|
rs577931355
|
0.00003
|
NM_005592.4(MUSK):c.2406C>T (p.Pro802=)
|
rs1444464544
|
0.00003
|
NM_005677.4(COLQ):c.1224T>C (p.Gly408=)
|
rs1297066860
|
0.00003
|
NM_005677.4(COLQ):c.1299-20C>T
|
rs375712012
|
0.00003
|
NM_005677.4(COLQ):c.393+18C>T
|
rs769699068
|
0.00003
|
NM_005677.4(COLQ):c.815-5C>T
|
rs771406985
|
0.00003
|
NM_020549.5(CHAT):c.1068C>T (p.Asp356=)
|
rs748193892
|
0.00003
|
NM_020549.5(CHAT):c.1281+8G>A
|
rs376227674
|
0.00003
|
NM_020549.5(CHAT):c.1656C>T (p.Pro552=)
|
rs1268229300
|
0.00003
|
NM_020549.5(CHAT):c.2183C>T (p.Thr728Ile)
|
rs74334349
|
0.00003
|
NM_020549.5(CHAT):c.387+18C>A
|
rs758829418
|
0.00003
|
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)
|
rs202059535
|
0.00003
|
NM_020549.5(CHAT):c.910G>A (p.Val304Ile)
|
rs116362950
|
0.00003
|
NM_020549.5(CHAT):c.93G>C (p.Val31=)
|
rs1399903985
|
0.00003
|
NM_021815.5(SLC5A7):c.1114-14G>A
|
rs773703560
|
0.00003
|
NM_021815.5(SLC5A7):c.1529A>C (p.Lys510Thr)
|
rs199693962
|
0.00003
|
NM_021815.5(SLC5A7):c.179-19A>C
|
rs775209241
|
0.00003
|
NM_021815.5(SLC5A7):c.179-20C>T
|
rs375281148
|
0.00003
|
NM_021815.5(SLC5A7):c.448+9C>A
|
rs759922183
|
0.00003
|
NM_033087.4(ALG2):c.159C>T (p.His53=)
|
rs527683080
|
0.00003
|
NM_033087.4(ALG2):c.495C>T (p.Tyr165=)
|
rs962112292
|
0.00003
|
NM_033087.4(ALG2):c.783G>A (p.Arg261=)
|
rs765386769
|
0.00003
|
NM_130811.4(SNAP25):c.114+13A>G
|
rs376612916
|
0.00003
|
NM_130811.4(SNAP25):c.393C>T (p.Gly131=)
|
rs761144395
|
0.00003
|
NM_130811.4(SNAP25):c.471C>T (p.Ile157=)
|
rs777212434
|
0.00003
|
NM_130811.4(SNAP25):c.552+8C>T
|
rs528347276
|
0.00003
|
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=)
|
rs200284964
|
0.00003
|
NM_173660.5(DOK7):c.1083C>T (p.Asp361=)
|
rs554026540
|
0.00003
|
NM_173660.5(DOK7):c.332-6C>G
|
rs1482072459
|
0.00003
|
NM_173660.5(DOK7):c.486C>T (p.Ala162=)
|
rs371609452
|
0.00003
|
NM_173660.5(DOK7):c.55-16C>T
|
rs976572936
|
0.00003
|
NM_173660.5(DOK7):c.564G>A (p.Glu188=)
|
rs375631042
|
0.00003
|
NM_173660.5(DOK7):c.773-18C>T
|
rs749706359
|
0.00003
|
NM_173660.5(DOK7):c.828C>T (p.Ser276=)
|
rs772682276
|
0.00003
|
NM_173660.5(DOK7):c.864C>G (p.Ser288=)
|
rs554816775
|
0.00003
|
NM_198576.4(AGRN):c.1122G>A (p.Gly374=)
|
rs563020089
|
0.00003
|
NM_198576.4(AGRN):c.1155C>T (p.Arg385=)
|
rs373114285
|
0.00003
|
NM_198576.4(AGRN):c.120G>A (p.Glu40=)
|
rs1453110514
|
0.00003
|
NM_198576.4(AGRN):c.1254C>T (p.Arg418=)
|
rs748348470
|
0.00003
|
NM_198576.4(AGRN):c.1518C>T (p.Gly506=)
|
rs139594136
|
0.00003
|
NM_198576.4(AGRN):c.1728C>T (p.Ser576=)
|
rs768510595
|
0.00003
|
NM_198576.4(AGRN):c.2070C>T (p.Arg690=)
|
rs146441147
|
0.00003
|
NM_198576.4(AGRN):c.2106G>A (p.Pro702=)
|
rs758527698
|
0.00003
|
NM_198576.4(AGRN):c.2148+8C>G
|
rs747897478
|
0.00003
|
NM_198576.4(AGRN):c.2149-4C>T
|
rs557551535
|
0.00003
|
NM_198576.4(AGRN):c.2313C>T (p.Tyr771=)
|
rs145920099
|
0.00003
|
NM_198576.4(AGRN):c.2832C>T (p.Tyr944=)
|
rs1230559646
|
0.00003
|
NM_198576.4(AGRN):c.3057G>A (p.Pro1019=)
|
rs199554974
|
0.00003
|
NM_198576.4(AGRN):c.3300C>T (p.Val1100=)
|
rs935964266
|
0.00003
|
NM_198576.4(AGRN):c.336C>T (p.Thr112=)
|
rs569638601
|
0.00003
|
NM_198576.4(AGRN):c.3453G>A (p.Thr1151=)
|
rs1350997043
|
0.00003
|
NM_198576.4(AGRN):c.3456C>T (p.Pro1152=)
|
rs368015466
|
0.00003
|
NM_198576.4(AGRN):c.3831G>A (p.Ser1277=)
|
rs1281476060
|
0.00003
|
NM_198576.4(AGRN):c.3933C>A (p.Pro1311=)
|
rs1163975598
|
0.00003
|
NM_198576.4(AGRN):c.4106-12C>T
|
rs766736643
|
0.00003
|
NM_198576.4(AGRN):c.4106-16C>T
|
rs761240917
|
0.00003
|
NM_198576.4(AGRN):c.4143C>T (p.Ser1381=)
|
rs747285842
|
0.00003
|
NM_198576.4(AGRN):c.426C>T (p.Thr142=)
|
rs771335673
|
0.00003
|
NM_198576.4(AGRN):c.4353G>A (p.Pro1451=)
|
rs181981987
|
0.00003
|
NM_198576.4(AGRN):c.4515-14C>T
|
rs757241549
|
0.00003
|
NM_198576.4(AGRN):c.459G>T (p.Val153=)
|
rs892523708
|
0.00003
|
NM_198576.4(AGRN):c.4608G>A (p.Pro1536=)
|
rs570277565
|
0.00003
|
NM_198576.4(AGRN):c.4744+19C>T
|
rs759402291
|
0.00003
|
NM_198576.4(AGRN):c.4758C>T (p.Ala1586=)
|
rs138071518
|
0.00003
|
NM_198576.4(AGRN):c.4936C>T (p.Leu1646=)
|
rs371173182
|
0.00003
|
NM_198576.4(AGRN):c.4951C>T (p.Leu1651=)
|
rs781152491
|
0.00003
|
NM_198576.4(AGRN):c.5141+7C>T
|
rs771799601
|
0.00003
|
NM_198576.4(AGRN):c.5181C>G (p.Val1727=)
|
rs1013137001
|
0.00003
|
NM_198576.4(AGRN):c.5877-16C>T
|
rs371544818
|
0.00003
|
NM_198576.4(AGRN):c.5981-8T>C
|
rs1268727270
|
0.00003
|
NM_198576.4(AGRN):c.6119G>A (p.Arg2040Gln)
|
rs527639453
|
0.00003
|
NM_198576.4(AGRN):c.663C>T (p.Cys221=)
|
rs955700514
|
0.00003
|
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)
|
rs753435616
|
0.00003
|
NM_198576.4(AGRN):c.966C>T (p.Gly322=)
|
rs777762146
|
0.00003
|
NM_000080.4(CHRNE):c.1029C>T (p.Arg343=)
|
rs1172630871
|
0.00002
|
NM_000080.4(CHRNE):c.1033-9C>A
|
rs1055824191
|
0.00002
|
NM_000080.4(CHRNE):c.1060C>T (p.Leu354=)
|
rs763847983
|
0.00002
|
NM_000080.4(CHRNE):c.1146G>A (p.Glu382=)
|
rs1236139496
|
0.00002
|
NM_000080.4(CHRNE):c.1327-10C>T
|
rs779066933
|
0.00002
|
NM_000080.4(CHRNE):c.1455C>T (p.Leu485=)
|
rs369916656
|
0.00002
|
NM_000080.4(CHRNE):c.1467G>A (p.Pro489=)
|
rs950225592
|
0.00002
|
NM_000080.4(CHRNE):c.235-5C>T
|
rs371818740
|
0.00002
|
NM_000080.4(CHRNE):c.237T>C (p.Asp79=)
|
rs777458923
|
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_000080.4(CHRNE):c.720G>T (p.Pro240=)
|
rs1049141147
|
0.00002
|
NM_000080.4(CHRNE):c.756G>A (p.Val252=)
|
rs756407780
|
0.00002
|
NM_000080.4(CHRNE):c.819C>T (p.Cys273=)
|
rs887770442
|
0.00002
|
NM_000080.4(CHRNE):c.852C>T (p.Thr284=)
|
rs770586668
|
0.00002
|
NM_000080.4(CHRNE):c.906G>A (p.Pro302=)
|
rs374156332
|
0.00002
|
NM_000334.4(SCN4A):c.1845+11G>T
|
rs761523703
|
0.00002
|
NM_000334.4(SCN4A):c.483-7C>T
|
rs780933125
|
0.00002
|
NM_000747.3(CHRNB1):c.1063C>T (p.Pro355Ser)
|
rs780673811
|
0.00002
|
NM_000747.3(CHRNB1):c.1152T>C (p.Gly384=)
|
rs549061953
|
0.00002
|
NM_000747.3(CHRNB1):c.1389G>A (p.Val463=)
|
rs1283448996
|
0.00002
|
NM_000747.3(CHRNB1):c.1476C>T (p.Tyr492=)
|
rs758446047
|
0.00002
|
NM_001145536.2(C17orf107):c.*2235G>A
|
rs753134441
|
0.00002
|
NM_001171613.2(PREPL):c.1503C>T (p.Asn501=)
|
rs201427100
|
0.00002
|
NM_001171613.2(PREPL):c.363C>T (p.Asp121=)
|
rs183365746
|
0.00002
|
NM_001171613.2(PREPL):c.552T>G (p.Thr184=)
|
rs774450920
|
0.00002
|
NM_001171613.2(PREPL):c.703-5C>T
|
rs758435946
|
0.00002
|
NM_001244710.2(GFPT1):c.1458T>G (p.Pro486=)
|
rs370693172
|
0.00002
|
NM_001244710.2(GFPT1):c.1482+16A>G
|
rs376276502
|
0.00002
|
NM_001244710.2(GFPT1):c.1726-9T>C
|
rs757234942
|
0.00002
|
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=)
|
rs200986371
|
0.00002
|
NM_001244710.2(GFPT1):c.1894-14A>G
|
rs775899275
|
0.00002
|
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=)
|
rs763874345
|
0.00002
|
NM_001244710.2(GFPT1):c.585C>T (p.Pro195=)
|
rs764483590
|
0.00002
|
NM_001244710.2(GFPT1):c.740-16T>A
|
rs749648987
|
0.00002
|
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=)
|
rs780625734
|
0.00002
|
NM_001382.4(DPAGT1):c.497-5C>T
|
rs556782038
|
0.00002
|
NM_002334.4(LRP4):c.105A>C (p.Ala35=)
|
rs766633369
|
0.00002
|
NM_002334.4(LRP4):c.1200C>T (p.Ala400=)
|
rs755019127
|
0.00002
|
NM_002334.4(LRP4):c.1209G>A (p.Gly403=)
|
rs751742961
|
0.00002
|
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=)
|
rs373523952
|
0.00002
|
NM_002334.4(LRP4):c.1731C>G (p.Pro577=)
|
rs762761020
|
0.00002
|
NM_002334.4(LRP4):c.1824C>T (p.Ala608=)
|
rs368577516
|
0.00002
|
NM_002334.4(LRP4):c.228T>C (p.Phe76=)
|
rs146007685
|
0.00002
|
NM_002334.4(LRP4):c.2425-20C>T
|
rs760531886
|
0.00002
|
NM_002334.4(LRP4):c.2481C>G (p.Thr827=)
|
rs759325895
|
0.00002
|
NM_002334.4(LRP4):c.2910C>T (p.Ser970=)
|
rs754936858
|
0.00002
|
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=)
|
rs534064794
|
0.00002
|
NM_002334.4(LRP4):c.3278-6C>T
|
rs373579793
|
0.00002
|
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=)
|
rs779892727
|
0.00002
|
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=)
|
rs775166531
|
0.00002
|
NM_002334.4(LRP4):c.471C>T (p.Asp157=)
|
rs765171137
|
0.00002
|
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=)
|
rs369034386
|
0.00002
|
NM_002334.4(LRP4):c.5087+14A>G
|
rs376251083
|
0.00002
|
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)
|
rs541585714
|
0.00002
|
NM_002334.4(LRP4):c.548-20C>A
|
rs1267038625
|
0.00002
|
NM_002334.4(LRP4):c.585G>A (p.Glu195=)
|
rs147714102
|
0.00002
|
NM_002334.4(LRP4):c.923-16C>A
|
rs756847264
|
0.00002
|
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=)
|
rs376829572
|
0.00002
|
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=)
|
rs763094966
|
0.00002
|
NM_005055.5(RAPSN):c.1167-17G>A
|
rs770347768
|
0.00002
|
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=)
|
rs1013183854
|
0.00002
|
NM_005055.5(RAPSN):c.726G>A (p.Arg242=)
|
rs754654883
|
0.00002
|
NM_005055.5(RAPSN):c.912+20A>G
|
rs763929869
|
0.00002
|
NM_005592.4(MUSK):c.1257A>G (p.Arg419=)
|
rs550568354
|
0.00002
|
NM_005592.4(MUSK):c.1716G>A (p.Arg572=)
|
rs747237685
|
0.00002
|
NM_005592.4(MUSK):c.1928-13C>A
|
rs779820360
|
0.00002
|
NM_005592.4(MUSK):c.1944G>A (p.Gly648=)
|
rs1206244035
|
0.00002
|
NM_005592.4(MUSK):c.2184C>A (p.Thr728=)
|
rs918997958
|
0.00002
|
NM_005592.4(MUSK):c.2442C>T (p.Tyr814=)
|
rs779578271
|
0.00002
|
NM_005592.4(MUSK):c.359-19A>G
|
rs751238962
|
0.00002
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
NM_005592.4(MUSK):c.744C>T (p.Asn248=)
|
rs765006536
|
0.00002
|
NM_005592.4(MUSK):c.753+7G>C
|
rs193147263
|
0.00002
|
NM_005592.4(MUSK):c.978T>C (p.Asn326=)
|
rs563391603
|
0.00002
|
NM_005677.4(COLQ):c.1254C>T (p.Asp418=)
|
rs777147864
|
0.00002
|
NM_005677.4(COLQ):c.1299-15C>A
|
rs994643666
|
0.00002
|
NM_005677.4(COLQ):c.556-7T>C
|
rs780166352
|
0.00002
|
NM_005677.4(COLQ):c.942G>A (p.Pro314=)
|
rs771944316
|
0.00002
|
NM_005677.4(COLQ):c.999C>A (p.Thr333=)
|
rs774279832
|
0.00002
|
NM_020549.5(CHAT):c.1026C>T (p.Asn342=)
|
rs752685760
|
0.00002
|
NM_020549.5(CHAT):c.1227C>T (p.His409=)
|
rs578201320
|
0.00002
|
NM_020549.5(CHAT):c.1383-4G>A
|
rs779952434
|
0.00002
|
NM_020549.5(CHAT):c.1386G>A (p.Thr462=)
|
rs770792319
|
0.00002
|
NM_020549.5(CHAT):c.1451G>A (p.Arg484Gln)
|
rs771901229
|
0.00002
|
NM_020549.5(CHAT):c.18G>A (p.Ala6=)
|
rs1348352777
|
0.00002
|
NM_020549.5(CHAT):c.1992G>A (p.Thr664=)
|
rs767717703
|
0.00002
|
NM_020549.5(CHAT):c.258G>C (p.Ser86=)
|
rs778636468
|
0.00002
|
NM_020549.5(CHAT):c.350G>A (p.Arg117His)
|
rs376641216
|
0.00002
|
NM_020549.5(CHAT):c.492C>T (p.Ala164=)
|
rs746798016
|
0.00002
|
NM_020549.5(CHAT):c.864C>T (p.Asp288=)
|
rs766217426
|
0.00002
|
NM_020549.5(CHAT):c.897G>A (p.Pro299=)
|
rs756942813
|
0.00002
|
NM_021815.5(SLC5A7):c.1731T>C (p.Asp577=)
|
rs766941461
|
0.00002
|
NM_021815.5(SLC5A7):c.180T>C (p.Ala60=)
|
rs146871193
|
0.00002
|
NM_021815.5(SLC5A7):c.597+7G>A
|
rs377267197
|
0.00002
|
NM_033087.4(ALG2):c.1230T>C (p.Tyr410=)
|
rs372356780
|
0.00002
|
NM_033087.4(ALG2):c.426G>C (p.Leu142=)
|
rs778882264
|
0.00002
|
NM_033087.4(ALG2):c.462A>G (p.Leu154=)
|
rs746100517
|
0.00002
|
NM_033087.4(ALG2):c.6G>A (p.Ala2=)
|
rs766287162
|
0.00002
|
NM_033087.4(ALG2):c.93G>C (p.Arg31=)
|
rs1012959999
|
0.00002
|
NM_130811.4(SNAP25):c.282-17C>T
|
rs778696808
|
0.00002
|
NM_130811.4(SNAP25):c.407+18T>C
|
rs186894193
|
0.00002
|
NM_130811.4(SNAP25):c.73-5C>T
|
rs776269607
|
0.00002
|
NM_173660.5(DOK7):c.101-16G>A
|
rs755933024
|
0.00002
|
NM_173660.5(DOK7):c.1059G>A (p.Ser353=)
|
rs781086422
|
0.00002
|
NM_173660.5(DOK7):c.1197C>T (p.Thr399=)
|
rs756540534
|
0.00002
|
NM_173660.5(DOK7):c.1314G>A (p.Thr438=)
|
rs371276345
|
0.00002
|
NM_173660.5(DOK7):c.1458G>A (p.Pro486=)
|
rs763843300
|
0.00002
|
NM_173660.5(DOK7):c.1506C>T (p.Pro502=)
|
rs753827494
|
0.00002
|
NM_173660.5(DOK7):c.321G>A (p.Ala107=)
|
rs769702844
|
0.00002
|
NM_173660.5(DOK7):c.453G>A (p.Gln151=)
|
rs764598148
|
0.00002
|
NM_173660.5(DOK7):c.54+31_54+32insT
|
rs1245236150
|
0.00002
|
NM_173660.5(DOK7):c.55-10G>A
|
rs886043943
|
0.00002
|
NM_173660.5(DOK7):c.55-19C>T
|
rs1316334613
|
0.00002
|
NM_198576.4(AGRN):c.1248C>T (p.Cys416=)
|
rs372623851
|
0.00002
|
NM_198576.4(AGRN):c.1290C>T (p.Ala430=)
|
rs754211714
|
0.00002
|
NM_198576.4(AGRN):c.1587G>A (p.Ala529=)
|
rs200506573
|
0.00002
|
NM_198576.4(AGRN):c.1611C>T (p.Cys537=)
|
rs373004225
|
0.00002
|
NM_198576.4(AGRN):c.1776C>T (p.His592=)
|
rs763322910
|
0.00002
|
NM_198576.4(AGRN):c.1842C>T (p.Ser614=)
|
rs774748438
|
0.00002
|
NM_198576.4(AGRN):c.1881G>A (p.Pro627=)
|
rs755828129
|
0.00002
|
NM_198576.4(AGRN):c.1902C>T (p.Ser634=)
|
rs549820648
|
0.00002
|
NM_198576.4(AGRN):c.2094G>A (p.Ser698=)
|
rs200653840
|
0.00002
|
NM_198576.4(AGRN):c.2166G>T (p.Gly722=)
|
rs751857392
|
0.00002
|
NM_198576.4(AGRN):c.2371+13G>A
|
rs751961924
|
0.00002
|
NM_198576.4(AGRN):c.2664C>T (p.Pro888=)
|
rs763648358
|
0.00002
|
NM_198576.4(AGRN):c.2805+9T>C
|
rs760075991
|
0.00002
|
NM_198576.4(AGRN):c.285C>T (p.Ser95=)
|
rs185077738
|
0.00002
|
NM_198576.4(AGRN):c.2994G>A (p.Pro998=)
|
rs770603390
|
0.00002
|
NM_198576.4(AGRN):c.3060C>G (p.Pro1020=)
|
rs755135294
|
0.00002
|
NM_198576.4(AGRN):c.3156G>A (p.Leu1052=)
|
rs1295512582
|
0.00002
|
NM_198576.4(AGRN):c.3408C>T (p.Gly1136=)
|
rs754629991
|
0.00002
|
NM_198576.4(AGRN):c.3522C>T (p.Asp1174=)
|
rs374008359
|
0.00002
|
NM_198576.4(AGRN):c.3723G>A (p.Leu1241=)
|
rs981386078
|
0.00002
|
NM_198576.4(AGRN):c.4020C>T (p.His1340=)
|
rs1427781010
|
0.00002
|
NM_198576.4(AGRN):c.4026G>A (p.Gly1342=)
|
rs767942031
|
0.00002
|
NM_198576.4(AGRN):c.4320G>A (p.Pro1440=)
|
rs767200294
|
0.00002
|
NM_198576.4(AGRN):c.4554G>A (p.Gly1518=)
|
rs751402344
|
0.00002
|
NM_198576.4(AGRN):c.4683G>A (p.Gly1561=)
|
rs760507388
|
0.00002
|
NM_198576.4(AGRN):c.471C>T (p.Pro157=)
|
rs148157593
|
0.00002
|
NM_198576.4(AGRN):c.4744+14C>T
|
rs374346187
|
0.00002
|
NM_198576.4(AGRN):c.4914T>C (p.Ala1638=)
|
rs760329841
|
0.00002
|
NM_198576.4(AGRN):c.5040C>T (p.Asn1680=)
|
rs368498050
|
0.00002
|
NM_198576.4(AGRN):c.5106C>T (p.Phe1702=)
|
rs563420866
|
0.00002
|
NM_198576.4(AGRN):c.512-6C>T
|
rs988351859
|
0.00002
|
NM_198576.4(AGRN):c.5133G>A (p.Ala1711=)
|
rs376535149
|
0.00002
|
NM_198576.4(AGRN):c.5196C>T (p.Asn1732=)
|
rs1264457871
|
0.00002
|
NM_198576.4(AGRN):c.5226C>T (p.Asp1742=)
|
rs759448658
|
0.00002
|
NM_198576.4(AGRN):c.5259G>A (p.Pro1753=)
|
rs771715098
|
0.00002
|
NM_198576.4(AGRN):c.5427C>T (p.Asp1809=)
|
rs963530349
|
0.00002
|
NM_198576.4(AGRN):c.5787A>G (p.Gln1929=)
|
rs372147500
|
0.00002
|
NM_198576.4(AGRN):c.942C>T (p.Asp314=)
|
rs1257343645
|
0.00002
|
NM_000080.4(CHRNE):c.1002C>T (p.Thr334=)
|
rs747880376
|
0.00001
|
NM_000080.4(CHRNE):c.1005C>T (p.Thr335=)
|
rs1247241612
|
0.00001
|
NM_000080.4(CHRNE):c.1008C>T (p.His336=)
|
rs768479748
|
0.00001
|
NM_000080.4(CHRNE):c.1024C>T (p.Leu342=)
|
rs778130828
|
0.00001
|
NM_000080.4(CHRNE):c.1032+8C>T
|
rs755463469
|
0.00001
|
NM_000080.4(CHRNE):c.1032+9G>A
|
rs752020505
|
0.00001
|
NM_000080.4(CHRNE):c.1053G>A (p.Pro351=)
|
rs1290320477
|
0.00001
|
NM_000080.4(CHRNE):c.1059C>T (p.Leu353=)
|
rs1292243112
|
0.00001
|
NM_000080.4(CHRNE):c.1065C>T (p.Gly355=)
|
rs775638720
|
0.00001
|
NM_000080.4(CHRNE):c.1068C>T (p.Ser356=)
|
rs986495754
|
0.00001
|
NM_000080.4(CHRNE):c.1077G>T (p.Pro359=)
|
rs907495464
|
0.00001
|
NM_000080.4(CHRNE):c.1080C>G (p.Pro360=)
|
rs886042727
|
0.00001
|
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=)
|
rs778313885
|
0.00001
|
NM_000080.4(CHRNE):c.1122G>A (p.Ser374=)
|
rs1047142793
|
0.00001
|
NM_000080.4(CHRNE):c.1128C>T (p.Gly376=)
|
rs1449525013
|
0.00001
|
NM_000080.4(CHRNE):c.1143G>A (p.Ala381=)
|
rs942583372
|
0.00001
|
NM_000080.4(CHRNE):c.1152G>T (p.Leu384=)
|
rs777363943
|
0.00001
|
NM_000080.4(CHRNE):c.1156C>T (p.Leu386=)
|
rs752358041
|
0.00001
|
NM_000080.4(CHRNE):c.1170G>C (p.Arg390=)
|
rs955030428
|
0.00001
|
NM_000080.4(CHRNE):c.1197G>A (p.Arg399=)
|
rs867064180
|
0.00001
|
NM_000080.4(CHRNE):c.1219+9A>G
|
rs559923437
|
0.00001
|
NM_000080.4(CHRNE):c.1220-4C>T
|
rs201553105
|
0.00001
|
NM_000080.4(CHRNE):c.1254C>T (p.Pro418=)
|
rs1420851295
|
0.00001
|
NM_000080.4(CHRNE):c.1284C>T (p.Asn428=)
|
rs750634265
|
0.00001
|
NM_000080.4(CHRNE):c.1287C>T (p.Phe429=)
|
rs1349711476
|
0.00001
|
NM_000080.4(CHRNE):c.1290G>A (p.Val430=)
|
rs1416247967
|
0.00001
|
NM_000080.4(CHRNE):c.1299C>T (p.Ser433=)
|
rs773970037
|
0.00001
|
NM_000080.4(CHRNE):c.1303A>C (p.Arg435=)
|
rs1486674648
|
0.00001
|
NM_000080.4(CHRNE):c.1320C>T (p.Thr440=)
|
rs1292101958
|
0.00001
|
NM_000080.4(CHRNE):c.1326+9G>A
|
rs1171676082
|
0.00001
|
NM_000080.4(CHRNE):c.1327-20C>T
|
rs1312286883
|
0.00001
|
NM_000080.4(CHRNE):c.1359C>T (p.Ala453=)
|
rs1412855797
|
0.00001
|
NM_000080.4(CHRNE):c.1368C>T (p.Asn456=)
|
rs1374818797
|
0.00001
|
NM_000080.4(CHRNE):c.1377C>T (p.Phe459=)
|
rs1486567580
|
0.00001
|
NM_000080.4(CHRNE):c.1395C>T (p.Leu465=)
|
rs1207444316
|
0.00001
|
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=)
|
rs545473686
|
0.00001
|
NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=)
|
rs373293781
|
0.00001
|
NM_000080.4(CHRNE):c.180C>T (p.Leu60=)
|
rs1486738510
|
0.00001
|
NM_000080.4(CHRNE):c.183C>T (p.Ile61=)
|
rs761677000
|
0.00001
|
NM_000080.4(CHRNE):c.195A>G (p.Glu65=)
|
rs1334272633
|
0.00001
|
NM_000080.4(CHRNE):c.204G>A (p.Glu68=)
|
rs1970025417
|
0.00001
|
NM_000080.4(CHRNE):c.312C>T (p.Leu104=)
|
rs1341141356
|
0.00001
|
NM_000080.4(CHRNE):c.357G>A (p.Gln119=)
|
rs747638974
|
0.00001
|
NM_000080.4(CHRNE):c.372C>T (p.Tyr124=)
|
rs894382905
|
0.00001
|
NM_000080.4(CHRNE):c.39G>T (p.Gly13=)
|
rs1247743244
|
0.00001
|
NM_000080.4(CHRNE):c.405C>T (p.Ser135=)
|
rs1174619470
|
0.00001
|
NM_000080.4(CHRNE):c.420T>C (p.Pro140=)
|
rs886038226
|
0.00001
|
NM_000080.4(CHRNE):c.435C>T (p.Arg145=)
|
rs1194731229
|
0.00001
|
NM_000080.4(CHRNE):c.441C>A (p.Val147=)
|
rs779058823
|
0.00001
|
NM_000080.4(CHRNE):c.468C>T (p.Pro156=)
|
rs751830305
|
0.00001
|
NM_000080.4(CHRNE):c.474T>C (p.Asp158=)
|
rs150868720
|
0.00001
|
NM_000080.4(CHRNE):c.516T>C (p.Asn172=)
|
rs143410438
|
0.00001
|
NM_000080.4(CHRNE):c.534C>T (p.Phe178=)
|
rs1246145838
|
0.00001
|
NM_000080.4(CHRNE):c.585C>T (p.Asp195=)
|
rs954677814
|
0.00001
|
NM_000080.4(CHRNE):c.588A>C (p.Thr196=)
|
rs763114306
|
0.00001
|
NM_000080.4(CHRNE):c.591G>A (p.Glu197=)
|
rs1969984066
|
0.00001
|
NM_000080.4(CHRNE):c.669C>T (p.Asp223=)
|
rs1463132688
|
0.00001
|
NM_000080.4(CHRNE):c.702C>G (p.Leu234=)
|
rs1344473749
|
0.00001
|
NM_000080.4(CHRNE):c.706A>C (p.Ile236Leu)
|
rs145522662
|
0.00001
|
NM_000080.4(CHRNE):c.723C>T (p.Leu241=)
|
rs886053126
|
0.00001
|
NM_000080.4(CHRNE):c.73C>T (p.Leu25=)
|
rs1970032941
|
0.00001
|
NM_000080.4(CHRNE):c.744C>T (p.Ile248=)
|
rs1288770447
|
0.00001
|
NM_000080.4(CHRNE):c.762C>T (p.Ile254=)
|
rs752926340
|
0.00001
|
NM_000080.4(CHRNE):c.795G>A (p.Pro265=)
|
rs1567638559
|
0.00001
|
NM_000080.4(CHRNE):c.831C>T (p.Ile277=)
|
rs755170993
|
0.00001
|
NM_000080.4(CHRNE):c.846C>G (p.Ala282=)
|
rs780429979
|
0.00001
|
NM_000080.4(CHRNE):c.859T>C (p.Leu287=)
|
rs1969957668
|
0.00001
|
NM_000080.4(CHRNE):c.867C>G (p.Leu289=)
|
rs763590279
|
0.00001
|
NM_000080.4(CHRNE):c.873C>A (p.Ala291=)
|
rs1326940305
|
0.00001
|
NM_000080.4(CHRNE):c.900C>T (p.Ser300=)
|
rs747224472
|
0.00001
|
NM_000080.4(CHRNE):c.945C>T (p.Ala315=)
|
rs758560981
|
0.00001
|
NM_000080.4(CHRNE):c.972C>T (p.Ile324=)
|
rs1405865454
|
0.00001
|
NM_000080.4(CHRNE):c.981C>T (p.Asn327=)
|
rs958190024
|
0.00001
|
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=)
|
rs373819078
|
0.00001
|
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)
|
rs1208231013
|
0.00001
|
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=)
|
rs543151915
|
0.00001
|
NM_000334.4(SCN4A):c.228C>T (p.Ile76=)
|
rs1189122757
|
0.00001
|
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)
|
rs367936207
|
0.00001
|
NM_000334.4(SCN4A):c.273+7G>A
|
rs369039376
|
0.00001
|
NM_000334.4(SCN4A):c.2853+7C>T
|
rs760934874
|
0.00001
|
NM_000334.4(SCN4A):c.2854-19G>A
|
rs1280578508
|
0.00001
|
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)
|
rs372555830
|
0.00001
|
NM_000334.4(SCN4A):c.2990-4T>A
|
rs1346938988
|
0.00001
|
NM_000334.4(SCN4A):c.3720+7G>A
|
rs553870552
|
0.00001
|
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)
|
rs758113478
|
0.00001
|
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=)
|
rs756370516
|
0.00001
|
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)
|
rs766569872
|
0.00001
|
NM_000747.3(CHRNB1):c.1321A>G (p.Ser441Gly)
|
rs754895386
|
0.00001
|
NM_000747.3(CHRNB1):c.1467C>T (p.Asp489=)
|
rs1362533670
|
0.00001
|
NM_000747.3(CHRNB1):c.183G>T (p.Ala61=)
|
rs775849224
|
0.00001
|
NM_000747.3(CHRNB1):c.198+10C>G
|
rs912711009
|
0.00001
|
NM_000747.3(CHRNB1):c.199-9C>T
|
rs572576481
|
0.00001
|
NM_000747.3(CHRNB1):c.303C>T (p.Leu101=)
|
rs748183383
|
0.00001
|
NM_000747.3(CHRNB1):c.39G>C (p.Leu13=)
|
rs770359368
|
0.00001
|
NM_000747.3(CHRNB1):c.462+7G>A
|
rs747388705
|
0.00001
|
NM_000747.3(CHRNB1):c.51C>T (p.Leu17=)
|
rs1351230064
|
0.00001
|
NM_000747.3(CHRNB1):c.673A>C (p.Arg225=)
|
rs757402627
|
0.00001
|
NM_000747.3(CHRNB1):c.681G>A (p.Gly227=)
|
rs201333755
|
0.00001
|
NM_000747.3(CHRNB1):c.756C>T (p.Val252=)
|
rs754596731
|
0.00001
|
NM_000747.3(CHRNB1):c.795C>T (p.Phe265=)
|
rs777819302
|
0.00001
|
NM_000747.3(CHRNB1):c.821-4C>A
|
rs764035317
|
0.00001
|
NM_000751.3(CHRND):c.132C>G (p.Pro44=)
|
rs774771779
|
0.00001
|
NM_001145536.2(C17orf107):c.*1801G>T
|
rs374325420
|
0.00001
|
NM_001145536.2(C17orf107):c.*2240G>A
|
rs761183088
|
0.00001
|
NM_001145536.2(C17orf107):c.*251C>A
|
rs754325287
|
0.00001
|
NM_001145536.2(C17orf107):c.*252G>T
|
rs1337368697
|
0.00001
|
NM_001145536.2(C17orf107):c.*380G>A
|
rs961218388
|
0.00001
|
NM_001145536.2(C17orf107):c.*381G>A
|
rs1314331863
|
0.00001
|
NM_001145536.2(C17orf107):c.*382G>A
|
rs760314762
|
0.00001
|
NM_001145536.2(C17orf107):c.*666C>T
|
rs1382185555
|
0.00001
|
NM_001145536.2(C17orf107):c.-164G>C
|
rs771664527
|
0.00001
|
NM_001171613.2(PREPL):c.-22C>T
|
rs148810409
|
0.00001
|
NM_001171613.2(PREPL):c.-28A>G
|
rs924063417
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1814G>A
|
rs963472046
|
0.00001
|
NM_001171613.2(PREPL):c.1086+11T>C
|
rs747536626
|
0.00001
|
NM_001171613.2(PREPL):c.1087-9C>G
|
rs755166149
|
0.00001
|
NM_001171613.2(PREPL):c.1227G>A (p.Val409=)
|
rs770075037
|
0.00001
|
NM_001171613.2(PREPL):c.1230T>C (p.Asp410=)
|
rs948010275
|
0.00001
|
NM_001171613.2(PREPL):c.1262+18A>G
|
rs1423411588
|
0.00001
|
NM_001171613.2(PREPL):c.1263-12C>T
|
rs1275787716
|
0.00001
|
NM_001171613.2(PREPL):c.1266T>C (p.Gly422=)
|
rs755648962
|
0.00001
|
NM_001171613.2(PREPL):c.1356G>A (p.Thr452=)
|
rs944899015
|
0.00001
|
NM_001171613.2(PREPL):c.142+17C>G
|
rs762928182
|
0.00001
|
NM_001171613.2(PREPL):c.1629+9A>C
|
rs1247136692
|
0.00001
|
NM_001171613.2(PREPL):c.1701T>C (p.Tyr567=)
|
rs1340727501
|
0.00001
|
NM_001171613.2(PREPL):c.1713C>G (p.Leu571=)
|
rs749490971
|
0.00001
|
NM_001171613.2(PREPL):c.1753+7G>C
|
rs768510947
|
0.00001
|
NM_001171613.2(PREPL):c.1754-20C>T
|
rs1192640537
|
0.00001
|
NM_001171613.2(PREPL):c.1827+9T>C
|
rs748870270
|
0.00001
|
NM_001171613.2(PREPL):c.1872C>T (p.Asp624=)
|
rs1359281085
|
0.00001
|
NM_001171613.2(PREPL):c.234A>G (p.Glu78=)
|
rs1572895650
|
0.00001
|
NM_001171613.2(PREPL):c.276A>T (p.Ala92=)
|
rs771393231
|
0.00001
|
NM_001171613.2(PREPL):c.30A>G (p.Lys10=)
|
rs1442379605
|
0.00001
|
NM_001171613.2(PREPL):c.350-6T>C
|
rs1386526801
|
0.00001
|
NM_001171613.2(PREPL):c.375A>G (p.Glu125=)
|
rs367827160
|
0.00001
|
NM_001171613.2(PREPL):c.639T>C (p.Tyr213=)
|
rs767656657
|
0.00001
|
NM_001171613.2(PREPL):c.703-4G>A
|
rs185432623
|
0.00001
|
NM_001171613.2(PREPL):c.717G>A (p.Ala239=)
|
rs754793038
|
0.00001
|
NM_001171613.2(PREPL):c.723T>C (p.Asp241=)
|
rs753702774
|
0.00001
|
NM_001171613.2(PREPL):c.75+15G>T
|
rs376068245
|
0.00001
|
NM_001171613.2(PREPL):c.852G>A (p.Val284=)
|
rs1319728552
|
0.00001
|
NM_001244710.2(GFPT1):c.1010-10A>G
|
rs753072061
|
0.00001
|
NM_001244710.2(GFPT1):c.116-6G>A
|
rs762154144
|
0.00001
|
NM_001244710.2(GFPT1):c.1188C>T (p.Tyr396=)
|
rs1161440351
|
0.00001
|
NM_001244710.2(GFPT1):c.1597+11A>C
|
rs778286888
|
0.00001
|
NM_001244710.2(GFPT1):c.1845C>T (p.His615=)
|
rs756332941
|
0.00001
|
NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=)
|
rs377155851
|
0.00001
|
NM_001244710.2(GFPT1):c.1893+7C>T
|
rs375872036
|
0.00001
|
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)
|
rs765856240
|
0.00001
|
NM_001244710.2(GFPT1):c.2043G>C (p.Leu681=)
|
rs766101867
|
0.00001
|
NM_001244710.2(GFPT1):c.2079C>T (p.Ala693=)
|
rs754236476
|
0.00001
|
NM_001244710.2(GFPT1):c.223+19T>C
|
rs532780798
|
0.00001
|
NM_001244710.2(GFPT1):c.224-9A>G
|
rs1207347337
|
0.00001
|
NM_001244710.2(GFPT1):c.306C>G (p.Pro102=)
|
rs763230648
|
0.00001
|
NM_001244710.2(GFPT1):c.408+15C>T
|
rs1357797263
|
0.00001
|
NM_001244710.2(GFPT1):c.801G>A (p.Pro267=)
|
rs752515655
|
0.00001
|
NM_001382.4(DPAGT1):c.1006-8C>G
|
rs1357255095
|
0.00001
|
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=)
|
rs761911331
|
0.00001
|
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=)
|
rs768805817
|
0.00001
|
NM_001382.4(DPAGT1):c.1161+10G>A
|
rs761082821
|
0.00001
|
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=)
|
rs747073447
|
0.00001
|
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=)
|
rs746759603
|
0.00001
|
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)
|
rs772133269
|
0.00001
|
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=)
|
rs200588529
|
0.00001
|
NM_001382.4(DPAGT1):c.162-20C>T
|
rs749879111
|
0.00001
|
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)
|
rs1438468092
|
0.00001
|
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=)
|
rs200991527
|
0.00001
|
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=)
|
rs376528767
|
0.00001
|
NM_001382.4(DPAGT1):c.621C>T (p.Val207=)
|
rs778726543
|
0.00001
|
NM_001382.4(DPAGT1):c.633A>G (p.Val211=)
|
rs767551785
|
0.00001
|
NM_001382.4(DPAGT1):c.643+14G>C
|
rs536452844
|
0.00001
|
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=)
|
rs1371529040
|
0.00001
|
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=)
|
rs780516960
|
0.00001
|
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=)
|
rs1432186196
|
0.00001
|
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)
|
rs779048359
|
0.00001
|
NM_002334.4(LRP4):c.1049-6G>C
|
rs775792196
|
0.00001
|
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=)
|
rs1941501832
|
0.00001
|
NM_002334.4(LRP4):c.1251A>G (p.Gln417=)
|
rs753671990
|
0.00001
|
NM_002334.4(LRP4):c.1310-7T>A
|
rs1555174059
|
0.00001
|
NM_002334.4(LRP4):c.1344C>T (p.Ile448=)
|
rs748651620
|
0.00001
|
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)
|
rs143481229
|
0.00001
|
NM_002334.4(LRP4):c.1599G>A (p.Ser533=)
|
rs745607132
|
0.00001
|
NM_002334.4(LRP4):c.1761T>C (p.Ser587=)
|
rs1191198188
|
0.00001
|
NM_002334.4(LRP4):c.1815C>T (p.Ile605=)
|
rs776484339
|
0.00001
|
NM_002334.4(LRP4):c.186T>C (p.Asp62=)
|
rs1941691871
|
0.00001
|
NM_002334.4(LRP4):c.1915+10T>C
|
rs566481615
|
0.00001
|
NM_002334.4(LRP4):c.2010G>A (p.Thr670=)
|
rs199654257
|
0.00001
|
NM_002334.4(LRP4):c.2118C>T (p.Asn706=)
|
rs762032159
|
0.00001
|
NM_002334.4(LRP4):c.21G>A (p.Ala7=)
|
rs967769665
|
0.00001
|
NM_002334.4(LRP4):c.2216-13G>A
|
rs376073181
|
0.00001
|
NM_002334.4(LRP4):c.2325T>G (p.Ala775=)
|
rs886048354
|
0.00001
|
NM_002334.4(LRP4):c.2424+12C>T
|
rs765593279
|
0.00001
|
NM_002334.4(LRP4):c.2424+13G>A
|
rs374365893
|
0.00001
|
NM_002334.4(LRP4):c.2835C>T (p.Leu945=)
|
rs201362411
|
0.00001
|
NM_002334.4(LRP4):c.2859C>T (p.Leu953=)
|
rs1368908778
|
0.00001
|
NM_002334.4(LRP4):c.3005-17C>T
|
rs778370608
|
0.00001
|
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=)
|
rs537403005
|
0.00001
|
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=)
|
rs1000744964
|
0.00001
|
NM_002334.4(LRP4):c.3137-8C>T
|
rs1941047135
|
0.00001
|
NM_002334.4(LRP4):c.317-11T>C
|
rs776234303
|
0.00001
|
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)
|
rs745991521
|
0.00001
|
NM_002334.4(LRP4):c.3277+11C>T
|
rs761158182
|
0.00001
|
NM_002334.4(LRP4):c.3365-7C>T
|
rs1565783851
|
0.00001
|
NM_002334.4(LRP4):c.339C>T (p.Asp113=)
|
rs368971854
|
0.00001
|
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=)
|
rs755263623
|
0.00001
|
NM_002334.4(LRP4):c.3699+10G>A
|
rs770541308
|
0.00001
|
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=)
|
rs200028319
|
0.00001
|
NM_002334.4(LRP4):c.390T>C (p.Asp130=)
|
rs140186161
|
0.00001
|
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=)
|
rs1424152195
|
0.00001
|
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=)
|
rs771308040
|
0.00001
|
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=)
|
rs1246562304
|
0.00001
|
NM_002334.4(LRP4):c.417C>T (p.Ser139=)
|
rs760201117
|
0.00001
|
NM_002334.4(LRP4):c.430+7G>A
|
rs1261702662
|
0.00001
|
NM_002334.4(LRP4):c.441G>A (p.Lys147=)
|
rs986524567
|
0.00001
|
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=)
|
rs766956711
|
0.00001
|
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=)
|
rs143849188
|
0.00001
|
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=)
|
rs762976165
|
0.00001
|
NM_002334.4(LRP4):c.5088-19A>C
|
rs1338147762
|
0.00001
|
NM_002334.4(LRP4):c.5088-5C>T
|
rs994961184
|
0.00001
|
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=)
|
rs777935842
|
0.00001
|
NM_002334.4(LRP4):c.5156-15C>A
|
rs1204328295
|
0.00001
|
NM_002334.4(LRP4):c.52+13C>T
|
rs1434991490
|
0.00001
|
NM_002334.4(LRP4):c.5247C>T (p.His1749=)
|
rs138596351
|
0.00001
|
NM_002334.4(LRP4):c.531C>T (p.Ser177=)
|
rs751226124
|
0.00001
|
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=)
|
rs376540994
|
0.00001
|
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=)
|
rs772706817
|
0.00001
|
NM_002334.4(LRP4):c.548-18C>A
|
rs779705585
|
0.00001
|
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=)
|
rs767372541
|
0.00001
|
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=)
|
rs762431184
|
0.00001
|
NM_002334.4(LRP4):c.724C>T (p.Leu242=)
|
rs1037889784
|
0.00001
|
NM_002334.4(LRP4):c.750C>T (p.Cys250=)
|
rs758493823
|
0.00001
|
NM_002334.4(LRP4):c.759C>T (p.Asp253=)
|
rs368640705
|
0.00001
|
NM_002334.4(LRP4):c.894C>T (p.Asn298=)
|
rs1592542950
|
0.00001
|
NM_002334.4(LRP4):c.922+12C>T
|
rs1297911489
|
0.00001
|
NM_002334.4(LRP4):c.922+19C>G
|
rs749318305
|
0.00001
|
NM_002334.4(LRP4):c.923-19T>C
|
rs528895748
|
0.00001
|
NM_003081.5(SNAP25):c.552+3G>T
|
rs780941797
|
0.00001
|
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=)
|
rs764482974
|
0.00001
|
NM_005055.5(RAPSN):c.1044C>T (p.His348=)
|
rs1014137280
|
0.00001
|
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=)
|
rs150934532
|
0.00001
|
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=)
|
rs1048200516
|
0.00001
|
NM_005055.5(RAPSN):c.111G>A (p.Ser37=)
|
rs146825957
|
0.00001
|
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=)
|
rs1368702539
|
0.00001
|
NM_005055.5(RAPSN):c.1166+18G>A
|
rs536788411
|
0.00001
|
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=)
|
rs1353799875
|
0.00001
|
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=)
|
rs530896580
|
0.00001
|
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)
|
rs2076326463
|
0.00001
|
NM_005055.5(RAPSN):c.132C>T (p.Arg44=)
|
rs772917848
|
0.00001
|
NM_005055.5(RAPSN):c.150C>A (p.Val50=)
|
rs768214983
|
0.00001
|
NM_005055.5(RAPSN):c.192+12C>T
|
rs774654232
|
0.00001
|
NM_005055.5(RAPSN):c.192+7G>T
|
rs767745050
|
0.00001
|
NM_005055.5(RAPSN):c.195C>T (p.Phe65=)
|
rs772563068
|
0.00001
|
NM_005055.5(RAPSN):c.210C>T (p.Ile70=)
|
rs773975835
|
0.00001
|
NM_005055.5(RAPSN):c.219C>G (p.Ala73=)
|
rs2076424955
|
0.00001
|
NM_005055.5(RAPSN):c.237C>T (p.Ala79=)
|
rs888989685
|
0.00001
|
NM_005055.5(RAPSN):c.321G>A (p.Lys107=)
|
rs781529364
|
0.00001
|
NM_005055.5(RAPSN):c.345C>A (p.Thr115=)
|
rs1353205717
|
0.00001
|
NM_005055.5(RAPSN):c.408C>T (p.Leu136=)
|
rs1466576877
|
0.00001
|
NM_005055.5(RAPSN):c.429G>A (p.Leu143=)
|
rs762052702
|
0.00001
|
NM_005055.5(RAPSN):c.438C>T (p.Phe146=)
|
rs1459059463
|
0.00001
|
NM_005055.5(RAPSN):c.483C>T (p.Leu161=)
|
rs754775068
|
0.00001
|
NM_005055.5(RAPSN):c.528C>G (p.Val176=)
|
rs761149747
|
0.00001
|
NM_005055.5(RAPSN):c.532-12T>C
|
rs768129120
|
0.00001
|
NM_005055.5(RAPSN):c.558C>T (p.Pro186=)
|
rs773462623
|
0.00001
|
NM_005055.5(RAPSN):c.576T>C (p.Leu192=)
|
rs745749798
|
0.00001
|
NM_005055.5(RAPSN):c.645C>T (p.Ala215=)
|
rs1338665465
|
0.00001
|
NM_005055.5(RAPSN):c.691-5C>T
|
rs1291023159
|
0.00001
|
NM_005055.5(RAPSN):c.723C>T (p.Asp241=)
|
rs769383562
|
0.00001
|
NM_005055.5(RAPSN):c.738G>A (p.Ala246=)
|
rs889862832
|
0.00001
|
NM_005055.5(RAPSN):c.789+17G>A
|
rs369690955
|
0.00001
|
NM_005055.5(RAPSN):c.813C>T (p.Ser271=)
|
rs760253392
|
0.00001
|
NM_005055.5(RAPSN):c.90A>G (p.Thr30=)
|
rs753896492
|
0.00001
|
NM_005055.5(RAPSN):c.912+11G>T
|
rs780444573
|
0.00001
|
NM_005055.5(RAPSN):c.912+8C>T
|
rs375174267
|
0.00001
|
NM_005055.5(RAPSN):c.913-18C>T
|
rs570429072
|
0.00001
|
NM_005055.5(RAPSN):c.927C>T (p.Ile309=)
|
rs144813373
|
0.00001
|
NM_005055.5(RAPSN):c.957G>C (p.Val319=)
|
rs794727796
|
0.00001
|
NM_005055.5(RAPSN):c.967-10C>T
|
rs754320492
|
0.00001
|
NM_005055.5(RAPSN):c.987C>T (p.His329=)
|
rs1340342787
|
0.00001
|
NM_005592.4(MUSK):c.1329C>T (p.Asp443=)
|
rs1174184253
|
0.00001
|
NM_005592.4(MUSK):c.1360+6dup
|
rs1329670157
|
0.00001
|
NM_005592.4(MUSK):c.138T>C (p.Thr46=)
|
rs776479773
|
0.00001
|
NM_005592.4(MUSK):c.1419G>A (p.Val473=)
|
rs750052542
|
0.00001
|
NM_005592.4(MUSK):c.1446C>T (p.Ser482=)
|
rs754903785
|
0.00001
|
NM_005592.4(MUSK):c.1512T>C (p.Phe504=)
|
rs374722867
|
0.00001
|
NM_005592.4(MUSK):c.1650C>T (p.Pro550=)
|
rs2077842363
|
0.00001
|
NM_005592.4(MUSK):c.1755G>A (p.Ala585=)
|
rs377355441
|
0.00001
|
NM_005592.4(MUSK):c.1767G>C (p.Val589=)
|
rs546916589
|
0.00001
|
NM_005592.4(MUSK):c.1778+17A>G
|
rs769781832
|
0.00001
|
NM_005592.4(MUSK):c.1778+20A>G
|
rs773113428
|
0.00001
|
NM_005592.4(MUSK):c.2397C>T (p.Gly799=)
|
rs775509048
|
0.00001
|
NM_005592.4(MUSK):c.2433C>T (p.Val811=)
|
rs761652640
|
0.00001
|
NM_005592.4(MUSK):c.57C>T (p.Ser19=)
|
rs750615817
|
0.00001
|
NM_005592.4(MUSK):c.951C>T (p.Cys317=)
|
rs1311522447
|
0.00001
|
NM_005677.4(COLQ):c.1116C>T (p.His372=)
|
rs759169923
|
0.00001
|
NM_005677.4(COLQ):c.1185C>T (p.Asp395=)
|
rs548322139
|
0.00001
|
NM_005677.4(COLQ):c.1196-16C>T
|
rs1360920116
|
0.00001
|
NM_005677.4(COLQ):c.1299-5C>T
|
rs1036242028
|
0.00001
|
NM_005677.4(COLQ):c.1350C>T (p.Pro450=)
|
rs747648795
|
0.00001
|
NM_005677.4(COLQ):c.165G>A (p.Thr55=)
|
rs777613214
|
0.00001
|
NM_005677.4(COLQ):c.180A>G (p.Pro60=)
|
rs750564606
|
0.00001
|
NM_005677.4(COLQ):c.276G>A (p.Pro92=)
|
rs753997328
|
0.00001
|
NM_005677.4(COLQ):c.321+16C>T
|
rs772748231
|
0.00001
|
NM_005677.4(COLQ):c.357G>A (p.Lys119=)
|
rs771988325
|
0.00001
|
NM_005677.4(COLQ):c.402T>C (p.Pro134=)
|
rs766356664
|
0.00001
|
NM_005677.4(COLQ):c.432G>A (p.Gly144=)
|
rs993225440
|
0.00001
|
NM_005677.4(COLQ):c.450C>T (p.Gly150=)
|
rs771279997
|
0.00001
|
NM_005677.4(COLQ):c.60C>T (p.Ile20=)
|
rs773097270
|
0.00001
|
NM_005677.4(COLQ):c.718-11C>A
|
rs779127197
|
0.00001
|
NM_005677.4(COLQ):c.718-5G>A
|
rs748890722
|
0.00001
|
NM_005677.4(COLQ):c.729G>A (p.Gly243=)
|
rs941592757
|
0.00001
|
NM_005677.4(COLQ):c.810T>G (p.Pro270=)
|
rs1379560902
|
0.00001
|
NM_005677.4(COLQ):c.955-6T>C
|
rs372534357
|
0.00001
|
NM_020549.5(CHAT):c.1044T>A (p.Pro348=)
|
rs200009054
|
0.00001
|
NM_020549.5(CHAT):c.1098G>A (p.Thr366=)
|
rs780860401
|
0.00001
|
NM_020549.5(CHAT):c.1281+7C>T
|
rs776458664
|
0.00001
|
NM_020549.5(CHAT):c.1320C>T (p.Cys440=)
|
rs766466820
|
0.00001
|
NM_020549.5(CHAT):c.1434C>T (p.Pro478=)
|
rs1322638546
|
0.00001
|
NM_020549.5(CHAT):c.1485A>G (p.Leu495=)
|
rs151031033
|
0.00001
|
NM_020549.5(CHAT):c.1497A>G (p.Ala499=)
|
rs752844751
|
0.00001
|
NM_020549.5(CHAT):c.1511+11C>T
|
rs746929234
|
0.00001
|
NM_020549.5(CHAT):c.1512-15C>T
|
rs757451959
|
0.00001
|
NM_020549.5(CHAT):c.1530C>T (p.Asp510=)
|
rs558298529
|
0.00001
|
NM_020549.5(CHAT):c.1662C>T (p.Tyr554=)
|
rs145370753
|
0.00001
|
NM_020549.5(CHAT):c.180C>T (p.His60=)
|
rs991244716
|
0.00001
|
NM_020549.5(CHAT):c.1839+10G>A
|
rs570678896
|
0.00001
|
NM_020549.5(CHAT):c.1839+9C>T
|
rs777285888
|
0.00001
|
NM_020549.5(CHAT):c.1968C>T (p.Ser656=)
|
rs1303365039
|
0.00001
|
NM_020549.5(CHAT):c.198C>T (p.Arg66=)
|
rs1230433889
|
0.00001
|
NM_020549.5(CHAT):c.201C>T (p.Pro67=)
|
rs978684444
|
0.00001
|
NM_020549.5(CHAT):c.2049C>T (p.Asn683=)
|
rs758454149
|
0.00001
|
NM_020549.5(CHAT):c.2112T>C (p.Ser704=)
|
rs1316813571
|
0.00001
|
NM_020549.5(CHAT):c.222C>T (p.Thr74=)
|
rs767600029
|
0.00001
|
NM_020549.5(CHAT):c.24G>A (p.Lys8=)
|
rs1444707075
|
0.00001
|
NM_020549.5(CHAT):c.276G>C (p.Pro92=)
|
rs745665140
|
0.00001
|
NM_020549.5(CHAT):c.287-16A>T
|
rs1289534650
|
0.00001
|
NM_020549.5(CHAT):c.357G>A (p.Met119Ile)
|
rs759310217
|
0.00001
|
NM_020549.5(CHAT):c.393G>T (p.Leu131=)
|
rs769827861
|
0.00001
|
NM_020549.5(CHAT):c.528C>T (p.Gly176=)
|
rs778476300
|
0.00001
|
NM_020549.5(CHAT):c.534C>T (p.Thr178=)
|
rs1838639286
|
0.00001
|
NM_020549.5(CHAT):c.54G>A (p.Lys18=)
|
rs1237220229
|
0.00001
|
NM_020549.5(CHAT):c.580-6C>T
|
rs749162949
|
0.00001
|
NM_020549.5(CHAT):c.618C>T (p.Asn206=)
|
rs775282060
|
0.00001
|
NM_020549.5(CHAT):c.657C>A (p.Ile219=)
|
rs1280679259
|
0.00001
|
NM_020549.5(CHAT):c.798G>A (p.Gln266=)
|
rs142237923
|
0.00001
|
NM_020549.5(CHAT):c.843G>C (p.Arg281=)
|
rs768892260
|
0.00001
|
NM_020549.5(CHAT):c.849C>T (p.Pro283=)
|
rs1342051924
|
0.00001
|
NM_021815.5(SLC5A7):c.1026T>C (p.Ala342=)
|
rs745405514
|
0.00001
|
NM_021815.5(SLC5A7):c.1242C>T (p.Tyr414=)
|
rs771422735
|
0.00001
|
NM_021815.5(SLC5A7):c.1302G>C (p.Gly434=)
|
rs767552380
|
0.00001
|
NM_021815.5(SLC5A7):c.1305C>T (p.Ala435=)
|
rs750258339
|
0.00001
|
NM_021815.5(SLC5A7):c.1360C>T (p.Leu454=)
|
rs868433113
|
0.00001
|
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=)
|
rs561099749
|
0.00001
|
NM_021815.5(SLC5A7):c.138C>T (p.Gly46=)
|
rs776077643
|
0.00001
|
NM_021815.5(SLC5A7):c.1602T>C (p.Asn534=)
|
rs772245675
|
0.00001
|
NM_021815.5(SLC5A7):c.1716G>T (p.Gly572=)
|
rs1025757053
|
0.00001
|
NM_021815.5(SLC5A7):c.192A>T (p.Gly64=)
|
rs773790295
|
0.00001
|
NM_021815.5(SLC5A7):c.207T>C (p.Asn69=)
|
rs1677475501
|
0.00001
|
NM_021815.5(SLC5A7):c.292+11G>A
|
rs777715689
|
0.00001
|
NM_021815.5(SLC5A7):c.321T>C (p.Arg107=)
|
rs759885480
|
0.00001
|
NM_021815.5(SLC5A7):c.393T>C (p.Phe131=)
|
rs1425880594
|
0.00001
|
NM_021815.5(SLC5A7):c.449-14C>T
|
rs1168011809
|
0.00001
|
NM_021815.5(SLC5A7):c.504T>C (p.Ser168=)
|
rs752342608
|
0.00001
|
NM_021815.5(SLC5A7):c.645C>A (p.Ile215=)
|
rs1392135172
|
0.00001
|
NM_021815.5(SLC5A7):c.711C>G (p.Val237=)
|
rs1305450818
|
0.00001
|
NM_021815.5(SLC5A7):c.729T>C (p.Ser243=)
|
rs972194774
|
0.00001
|
NM_021815.5(SLC5A7):c.741+11C>G
|
rs781484974
|
0.00001
|
NM_021815.5(SLC5A7):c.741+12T>C
|
rs745918946
|
0.00001
|
NM_021815.5(SLC5A7):c.742-19C>A
|
rs758950508
|
0.00001
|
NM_021815.5(SLC5A7):c.742-7C>T
|
rs367795192
|
0.00001
|
NM_021815.5(SLC5A7):c.765A>G (p.Gln255=)
|
rs1354576821
|
0.00001
|
NM_021815.5(SLC5A7):c.792T>A (p.Ser264=)
|
rs199981715
|
0.00001
|
NM_021815.5(SLC5A7):c.837C>T (p.Phe279=)
|
rs369809428
|
0.00001
|
NM_021815.5(SLC5A7):c.84A>G (p.Arg28=)
|
rs202046349
|
0.00001
|
NM_021815.5(SLC5A7):c.864C>G (p.Ala288=)
|
rs1380320655
|
0.00001
|
NM_021815.5(SLC5A7):c.978T>C (p.Tyr326=)
|
rs542281272
|
0.00001
|
NM_033087.4(ALG2):c.1020A>G (p.Pro340=)
|
rs762693196
|
0.00001
|
NM_033087.4(ALG2):c.1098G>A (p.Pro366=)
|
rs562373747
|
0.00001
|
NM_033087.4(ALG2):c.117G>A (p.Ala39=)
|
rs1353112014
|
0.00001
|
NM_033087.4(ALG2):c.12G>A (p.Glu4=)
|
rs1036766977
|
0.00001
|
NM_033087.4(ALG2):c.183C>T (p.Ala61=)
|
rs755793459
|
0.00001
|
NM_033087.4(ALG2):c.192C>T (p.Arg64=)
|
rs367616427
|
0.00001
|
NM_033087.4(ALG2):c.198A>G (p.Leu66=)
|
rs374316187
|
0.00001
|
NM_033087.4(ALG2):c.303G>A (p.Val101=)
|
rs371910648
|
0.00001
|
NM_033087.4(ALG2):c.304C>T (p.Leu102=)
|
rs749236548
|
0.00001
|
NM_033087.4(ALG2):c.33G>A (p.Ser11=)
|
rs775776287
|
0.00001
|
NM_033087.4(ALG2):c.375G>A (p.Arg125=)
|
rs1270655898
|
0.00001
|
NM_033087.4(ALG2):c.39C>G (p.Pro13=)
|
rs746087117
|
0.00001
|
NM_033087.4(ALG2):c.402A>G (p.Leu134=)
|
rs772364404
|
0.00001
|
NM_033087.4(ALG2):c.48G>C (p.Ser16=)
|
rs199752563
|
0.00001
|
NM_033087.4(ALG2):c.571C>T (p.Leu191=)
|
rs1828740241
|
0.00001
|
NM_033087.4(ALG2):c.663C>T (p.Pro221=)
|
rs201126562
|
0.00001
|
NM_033087.4(ALG2):c.690C>T (p.Ser230=)
|
rs368526201
|
0.00001
|
NM_033087.4(ALG2):c.699A>G (p.Arg233=)
|
rs746932585
|
0.00001
|
NM_033087.4(ALG2):c.702C>T (p.Tyr234=)
|
rs370457158
|
0.00001
|
NM_033087.4(ALG2):c.70C>T (p.Leu24=)
|
rs143683491
|
0.00001
|
NM_033087.4(ALG2):c.894C>G (p.Thr298=)
|
rs758885892
|
0.00001
|
NM_033087.4(ALG2):c.936C>T (p.Leu312=)
|
rs753807667
|
0.00001
|
NM_130811.4(SNAP25):c.114+7A>G
|
rs2063714956
|
0.00001
|
NM_130811.4(SNAP25):c.115-12A>G
|
rs774171317
|
0.00001
|
NM_130811.4(SNAP25):c.164-4T>C
|
rs138078125
|
0.00001
|
NM_130811.4(SNAP25):c.394G>A (p.Gly132Ser)
|
rs202003366
|
0.00001
|
NM_130811.4(SNAP25):c.407+12G>A
|
rs752421716
|
0.00001
|
NM_130811.4(SNAP25):c.514G>A (p.Asp172Asn)
|
rs763898355
|
0.00001
|
NM_130811.4(SNAP25):c.553-13C>T
|
rs1568634670
|
0.00001
|
NM_130811.4(SNAP25):c.69T>C (p.Asp23=)
|
rs1278243837
|
0.00001
|
NM_130811.4(SNAP25):c.72+13G>A
|
rs752643793
|
0.00001
|
NM_130811.4(SNAP25):c.89G>A (p.Arg30His)
|
rs577791521
|
0.00001
|
NM_144988.4(ALG14):c.421-6T>C
|
rs764786734
|
0.00001
|
NM_144988.4(ALG14):c.432C>T (p.Asn144=)
|
rs372801574
|
0.00001
|
NM_144988.4(ALG14):c.513C>T (p.Tyr171=)
|
rs145148882
|
0.00001
|
NM_144988.4(ALG14):c.546C>T (p.Ser182=)
|
rs199846785
|
0.00001
|
NM_173660.5(DOK7):c.100+18G>A
|
rs1361843879
|
0.00001
|
NM_173660.5(DOK7):c.1056C>T (p.Leu352=)
|
rs751252312
|
0.00001
|
NM_173660.5(DOK7):c.1092G>T (p.Arg364=)
|
rs767282152
|
0.00001
|
NM_173660.5(DOK7):c.109C>T (p.Leu37=)
|
rs1283794146
|
0.00001
|
NM_173660.5(DOK7):c.1158C>T (p.Cys386=)
|
rs770365337
|
0.00001
|
NM_173660.5(DOK7):c.1191G>C (p.Val397=)
|
rs781489489
|
0.00001
|
NM_173660.5(DOK7):c.1227C>T (p.Arg409=)
|
rs762828158
|
0.00001
|
NM_173660.5(DOK7):c.12G>A (p.Ala4=)
|
rs1202693776
|
0.00001
|
NM_173660.5(DOK7):c.1347G>A (p.Thr449=)
|
rs776624533
|
0.00001
|
NM_173660.5(DOK7):c.1360C>T (p.Leu454=)
|
rs1231920444
|
0.00001
|
NM_173660.5(DOK7):c.1401T>C (p.Pro467=)
|
rs764419050
|
0.00001
|
NM_173660.5(DOK7):c.1443C>T (p.His481=)
|
rs749462644
|
0.00001
|
NM_173660.5(DOK7):c.1446G>A (p.Ala482=)
|
rs773592493
|
0.00001
|
NM_173660.5(DOK7):c.1452A>G (p.Pro484=)
|
rs1462346774
|
0.00001
|
NM_173660.5(DOK7):c.1482C>T (p.Val494=)
|
rs771501211
|
0.00001
|
NM_173660.5(DOK7):c.193C>T (p.Leu65=)
|
rs546630800
|
0.00001
|
NM_173660.5(DOK7):c.408T>C (p.Asp136=)
|
rs1219485664
|
0.00001
|
NM_173660.5(DOK7):c.429C>T (p.Asp143=)
|
rs747023250
|
0.00001
|
NM_173660.5(DOK7):c.438G>C (p.Pro146=)
|
rs776760690
|
0.00001
|
NM_173660.5(DOK7):c.495C>T (p.Ser165=)
|
rs1405222108
|
0.00001
|
NM_173660.5(DOK7):c.579C>T (p.Ser193=)
|
rs766358840
|
0.00001
|
NM_173660.5(DOK7):c.663C>G (p.Pro221=)
|
rs914998338
|
0.00001
|
NM_173660.5(DOK7):c.666G>A (p.Pro222=)
|
rs756895721
|
0.00001
|
NM_173660.5(DOK7):c.675G>A (p.Ser225=)
|
rs780065823
|
0.00001
|
NM_173660.5(DOK7):c.759G>A (p.Arg253=)
|
rs759824901
|
0.00001
|
NM_173660.5(DOK7):c.762G>A (p.Pro254=)
|
rs763623892
|
0.00001
|
NM_173660.5(DOK7):c.772+9G>A
|
rs778823411
|
0.00001
|
NM_173660.5(DOK7):c.849A>G (p.Ala283=)
|
rs756234763
|
0.00001
|
NM_173660.5(DOK7):c.945A>C (p.Ser315=)
|
rs757723197
|
0.00001
|
NM_198576.4(AGRN):c.1038C>T (p.Pro346=)
|
rs768351523
|
0.00001
|
NM_198576.4(AGRN):c.1062G>A (p.Ala354=)
|
rs765349974
|
0.00001
|
NM_198576.4(AGRN):c.1089C>T (p.Thr363=)
|
rs779950946
|
0.00001
|
NM_198576.4(AGRN):c.1113C>A (p.Gly371=)
|
rs771600667
|
0.00001
|
NM_198576.4(AGRN):c.1137C>T (p.Leu379=)
|
rs1404751859
|
0.00001
|
NM_198576.4(AGRN):c.1177+12C>T
|
rs1213787315
|
0.00001
|
NM_198576.4(AGRN):c.1177+15C>T
|
rs770405970
|
0.00001
|
NM_198576.4(AGRN):c.1185C>T (p.Cys395=)
|
rs1644954742
|
0.00001
|
NM_198576.4(AGRN):c.1221C>A (p.Ser407=)
|
rs1290178251
|
0.00001
|
NM_198576.4(AGRN):c.1266C>T (p.Asp422=)
|
rs771165998
|
0.00001
|
NM_198576.4(AGRN):c.1384+12G>A
|
rs750678456
|
0.00001
|
NM_198576.4(AGRN):c.1410G>A (p.Gly470=)
|
rs371755962
|
0.00001
|
NM_198576.4(AGRN):c.1479G>A (p.Ala493=)
|
rs756019159
|
0.00001
|
NM_198576.4(AGRN):c.1512C>T (p.Ser504=)
|
rs527601442
|
0.00001
|
NM_198576.4(AGRN):c.1527C>T (p.Tyr509=)
|
rs766287924
|
0.00001
|
NM_198576.4(AGRN):c.1719G>A (p.Thr573=)
|
rs150246085
|
0.00001
|
NM_198576.4(AGRN):c.1926C>T (p.Ala642=)
|
rs1412601608
|
0.00001
|
NM_198576.4(AGRN):c.1947C>T (p.Ala649=)
|
rs1645019966
|
0.00001
|
NM_198576.4(AGRN):c.1999+14C>T
|
rs781183868
|
0.00001
|
NM_198576.4(AGRN):c.2000-4G>A
|
rs371316293
|
0.00001
|
NM_198576.4(AGRN):c.2000-5C>T
|
rs757769063
|
0.00001
|
NM_198576.4(AGRN):c.2001C>T (p.Ala667=)
|
rs756204860
|
0.00001
|
NM_198576.4(AGRN):c.202-17C>T
|
rs1036873472
|
0.00001
|
NM_198576.4(AGRN):c.2037C>T (p.Asp679=)
|
rs780169210
|
0.00001
|
NM_198576.4(AGRN):c.2142C>G (p.Gly714=)
|
rs372705597
|
0.00001
|
NM_198576.4(AGRN):c.2220A>T (p.Arg740=)
|
rs746221151
|
0.00001
|
NM_198576.4(AGRN):c.2223G>C (p.Gly741=)
|
rs763474149
|
0.00001
|
NM_198576.4(AGRN):c.2254+20G>A
|
rs749805082
|
0.00001
|
NM_198576.4(AGRN):c.2254+8G>A
|
rs779212624
|
0.00001
|
NM_198576.4(AGRN):c.2307G>A (p.Thr769=)
|
rs1475721760
|
0.00001
|
NM_198576.4(AGRN):c.2355C>T (p.Gly785=)
|
rs1447389396
|
0.00001
|
NM_198576.4(AGRN):c.246G>A (p.Arg82=)
|
rs1408540234
|
0.00001
|
NM_198576.4(AGRN):c.2499T>C (p.Phe833=)
|
rs753858864
|
0.00001
|
NM_198576.4(AGRN):c.2536+13G>A
|
rs761238201
|
0.00001
|
NM_198576.4(AGRN):c.2589G>A (p.Thr863=)
|
rs776485359
|
0.00001
|
NM_198576.4(AGRN):c.2680+17G>A
|
rs747171342
|
0.00001
|
NM_198576.4(AGRN):c.2681-9G>A
|
rs749091157
|
0.00001
|
NM_198576.4(AGRN):c.2691G>A (p.Ala897=)
|
rs760197095
|
0.00001
|
NM_198576.4(AGRN):c.2736C>T (p.Cys912=)
|
rs141587982
|
0.00001
|
NM_198576.4(AGRN):c.2806-12T>C
|
rs1570221858
|
0.00001
|
NM_198576.4(AGRN):c.2848C>T (p.Leu950=)
|
rs368017102
|
0.00001
|
NM_198576.4(AGRN):c.2898G>A (p.Leu966=)
|
rs778480989
|
0.00001
|
NM_198576.4(AGRN):c.3087C>T (p.Ser1029=)
|
rs767290327
|
0.00001
|
NM_198576.4(AGRN):c.3111C>T (p.Pro1037=)
|
rs755437030
|
0.00001
|
NM_198576.4(AGRN):c.3234T>C (p.Ser1078=)
|
rs777419195
|
0.00001
|
NM_198576.4(AGRN):c.3243C>T (p.Gly1081=)
|
rs746454531
|
0.00001
|
NM_198576.4(AGRN):c.3251-10G>A
|
rs368963266
|
0.00001
|
NM_198576.4(AGRN):c.3251-12G>A
|
rs1275988882
|
0.00001
|
NM_198576.4(AGRN):c.3255C>T (p.Leu1085=)
|
rs775823409
|
0.00001
|
NM_198576.4(AGRN):c.3267G>A (p.Glu1089=)
|
rs1423533978
|
0.00001
|
NM_198576.4(AGRN):c.3328T>C (p.Leu1110=)
|
rs1297179716
|
0.00001
|
NM_198576.4(AGRN):c.3348G>A (p.Gly1116=)
|
rs139977979
|
0.00001
|
NM_198576.4(AGRN):c.3360G>A (p.Ser1120=)
|
rs772110038
|
0.00001
|
NM_198576.4(AGRN):c.3438G>A (p.Gln1146=)
|
rs761696738
|
0.00001
|
NM_198576.4(AGRN):c.3517-18G>C
|
rs886429179
|
0.00001
|
NM_198576.4(AGRN):c.3546C>T (p.Val1182=)
|
rs1557712957
|
0.00001
|
NM_198576.4(AGRN):c.3603C>T (p.Arg1201=)
|
rs749229259
|
0.00001
|
NM_198576.4(AGRN):c.3651C>T (p.Pro1217=)
|
rs777055497
|
0.00001
|
NM_198576.4(AGRN):c.3693G>A (p.Arg1231=)
|
rs1356719781
|
0.00001
|
NM_198576.4(AGRN):c.3750T>C (p.Phe1250=)
|
rs138818746
|
0.00001
|
NM_198576.4(AGRN):c.3751+19G>A
|
rs779240198
|
0.00001
|
NM_198576.4(AGRN):c.3762T>C (p.Pro1254=)
|
rs1645150923
|
0.00001
|
NM_198576.4(AGRN):c.3783G>A (p.Thr1261=)
|
rs376408361
|
0.00001
|
NM_198576.4(AGRN):c.3834C>T (p.Arg1278=)
|
rs768567036
|
0.00001
|
NM_198576.4(AGRN):c.3840G>A (p.Pro1280=)
|
rs768974182
|
0.00001
|
NM_198576.4(AGRN):c.4074G>A (p.Pro1358=)
|
rs779057526
|
0.00001
|
NM_198576.4(AGRN):c.4221G>A (p.Gly1407=)
|
rs770216741
|
0.00001
|
NM_198576.4(AGRN):c.4233C>T (p.Tyr1411=)
|
rs147664394
|
0.00001
|
NM_198576.4(AGRN):c.4261C>T (p.Leu1421=)
|
rs1192631612
|
0.00001
|
NM_198576.4(AGRN):c.4267T>C (p.Leu1423=)
|
rs752281378
|
0.00001
|
NM_198576.4(AGRN):c.4299-11C>T
|
rs1434434568
|
0.00001
|
NM_198576.4(AGRN):c.4299-6C>T
|
rs1449412827
|
0.00001
|
NM_198576.4(AGRN):c.4386C>T (p.His1462=)
|
rs1158934281
|
0.00001
|
NM_198576.4(AGRN):c.4395G>C (p.Arg1465=)
|
rs766000174
|
0.00001
|
NM_198576.4(AGRN):c.4407G>A (p.Ser1469=)
|
rs1292243937
|
0.00001
|
NM_198576.4(AGRN):c.441G>A (p.Glu147=)
|
rs763121838
|
0.00001
|
NM_198576.4(AGRN):c.4470C>T (p.Asp1490=)
|
rs547462192
|
0.00001
|
NM_198576.4(AGRN):c.4473A>C (p.Thr1491=)
|
rs763563403
|
0.00001
|
NM_198576.4(AGRN):c.4491C>T (p.Gly1497=)
|
rs1006659162
|
0.00001
|
NM_198576.4(AGRN):c.4512C>T (p.Ala1504=)
|
rs759230236
|
0.00001
|
NM_198576.4(AGRN):c.463+18C>T
|
rs376022027
|
0.00001
|
NM_198576.4(AGRN):c.4660C>T (p.Leu1554=)
|
rs1463712199
|
0.00001
|
NM_198576.4(AGRN):c.4725G>A (p.Gln1575=)
|
rs763693142
|
0.00001
|
NM_198576.4(AGRN):c.4728C>T (p.Cys1576=)
|
rs931498089
|
0.00001
|
NM_198576.4(AGRN):c.4827T>C (p.Gly1609=)
|
rs759945596
|
0.00001
|
NM_198576.4(AGRN):c.483C>T (p.Phe161=)
|
rs192831476
|
0.00001
|
NM_198576.4(AGRN):c.4879+13G>A
|
rs1426872282
|
0.00001
|
NM_198576.4(AGRN):c.4879+16C>T
|
rs1370470031
|
0.00001
|
NM_198576.4(AGRN):c.4879+8G>A
|
rs1410342207
|
0.00001
|
NM_198576.4(AGRN):c.4956C>T (p.His1652=)
|
rs1365687266
|
0.00001
|
NM_198576.4(AGRN):c.5055C>T (p.Asp1685=)
|
rs766955342
|
0.00001
|
NM_198576.4(AGRN):c.5091C>T (p.Asp1697=)
|
rs1354093526
|
0.00001
|
NM_198576.4(AGRN):c.5097C>T (p.Arg1699=)
|
rs1401109891
|
0.00001
|
NM_198576.4(AGRN):c.5142-19C>T
|
rs370941734
|
0.00001
|
NM_198576.4(AGRN):c.5160C>T (p.Thr1720=)
|
rs758276484
|
0.00001
|
NM_198576.4(AGRN):c.5163G>T (p.Leu1721=)
|
rs146855689
|
0.00001
|
NM_198576.4(AGRN):c.5253+7G>A
|
rs767071621
|
0.00001
|
NM_198576.4(AGRN):c.5254-8C>T
|
rs369911069
|
0.00001
|
NM_198576.4(AGRN):c.5265C>T (p.Thr1755=)
|
rs773071527
|
0.00001
|
NM_198576.4(AGRN):c.528G>C (p.Leu176=)
|
rs1045582777
|
0.00001
|
NM_198576.4(AGRN):c.5371-5T>C
|
rs1361101124
|
0.00001
|
NM_198576.4(AGRN):c.5385C>T (p.Gly1795=)
|
rs1375097481
|
0.00001
|
NM_198576.4(AGRN):c.5413C>T (p.Leu1805=)
|
rs751461791
|
0.00001
|
NM_198576.4(AGRN):c.54G>C (p.Val18=)
|
rs901063398
|
0.00001
|
NM_198576.4(AGRN):c.5502G>A (p.Pro1834=)
|
rs371302168
|
0.00001
|
NM_198576.4(AGRN):c.5564-9A>G
|
rs1645298070
|
0.00001
|
NM_198576.4(AGRN):c.5610C>T (p.Asp1870=)
|
rs376066449
|
0.00001
|
NM_198576.4(AGRN):c.5646C>T (p.Thr1882=)
|
rs577578019
|
0.00001
|
NM_198576.4(AGRN):c.5778G>A (p.Gly1926=)
|
rs767514639
|
0.00001
|
NM_198576.4(AGRN):c.5811G>A (p.Gln1937=)
|
rs1212454305
|
0.00001
|
NM_198576.4(AGRN):c.5865C>T (p.Val1955=)
|
rs763082192
|
0.00001
|
NM_198576.4(AGRN):c.5876+19G>A
|
rs201545296
|
0.00001
|
NM_198576.4(AGRN):c.5876+9G>A
|
rs772517259
|
0.00001
|
NM_198576.4(AGRN):c.597G>A (p.Lys199=)
|
rs772146272
|
0.00001
|
NM_198576.4(AGRN):c.5980+11T>C
|
rs140676931
|
0.00001
|
NM_198576.4(AGRN):c.5991G>A (p.Pro1997=)
|
rs773508939
|
0.00001
|
NM_198576.4(AGRN):c.6000C>T (p.Pro2000=)
|
rs769653766
|
0.00001
|
NM_198576.4(AGRN):c.6024C>T (p.Ala2008=)
|
rs1182389812
|
0.00001
|
NM_198576.4(AGRN):c.6096C>T (p.Asp2032=)
|
rs544753386
|
0.00001
|
NM_198576.4(AGRN):c.651C>T (p.Tyr217=)
|
rs1235929400
|
0.00001
|
NM_198576.4(AGRN):c.708G>A (p.Leu236=)
|
rs755871141
|
0.00001
|
NM_198576.4(AGRN):c.727+7G>C
|
rs772521361
|
0.00001
|
NM_198576.4(AGRN):c.728-8G>T
|
rs1172674191
|
0.00001
|
NM_198576.4(AGRN):c.849C>T (p.Thr283=)
|
rs1405014962
|
0.00001
|
NM_198576.4(AGRN):c.894C>T (p.Leu298=)
|
rs1251452652
|
0.00001
|
NM_198576.4(AGRN):c.933G>A (p.Lys311=)
|
rs781177256
|
0.00001
|
NM_198576.4(AGRN):c.952+20C>T
|
rs749460152
|
0.00001
|
NM_000080.4(CHRNE):c.1011C>T (p.Ala337=)
|
rs1555546423
|
|
NM_000080.4(CHRNE):c.1017C>T (p.Ser339=)
|
rs114454383
|
|
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu)
|
rs139922367
|
|
NM_000080.4(CHRNE):c.1020G>A (p.Pro340=)
|
|
|
NM_000080.4(CHRNE):c.1023G>T (p.Arg341=)
|
|
|
NM_000080.4(CHRNE):c.1026G>T (p.Leu342=)
|
rs2151095114
|
|
NM_000080.4(CHRNE):c.1032+10G>A
|
rs2151095067
|
|
NM_000080.4(CHRNE):c.1032+10G>C
|
|
|
NM_000080.4(CHRNE):c.1032+11A>G
|
|
|
NM_000080.4(CHRNE):c.1032+12G>A
|
|
|
NM_000080.4(CHRNE):c.1032+12_1032+13insC
|
|
|
NM_000080.4(CHRNE):c.1032+13G>C
|
|
|
NM_000080.4(CHRNE):c.1032+14G>A
|
|
|
NM_000080.4(CHRNE):c.1032+14G>C
|
|
|
NM_000080.4(CHRNE):c.1032+18G>A
|
|
|
NM_000080.4(CHRNE):c.1032+20T>G
|
|
|
NM_000080.4(CHRNE):c.1032+7G>A
|
|
|
NM_000080.4(CHRNE):c.1032+9G>C
|
|
|
NM_000080.4(CHRNE):c.1032+9G>T
|
rs752020505
|
|
NM_000080.4(CHRNE):c.1033-11C>T
|
|
|
NM_000080.4(CHRNE):c.1033-12C>A
|
|
|
NM_000080.4(CHRNE):c.1033-13G>A
|
|
|
NM_000080.4(CHRNE):c.1033-13G>T
|
|
|
NM_000080.4(CHRNE):c.1033-18GCCCC[3]
|
rs1555546374
|
|
NM_000080.4(CHRNE):c.1033-22_1033-9dup
|
rs764991750
|
|
NM_000080.4(CHRNE):c.1033-3_1033-2insGCCCCTGCCCCT
|
rs761361955
|
|
NM_000080.4(CHRNE):c.1033-4C>A
|
rs1046859320
|
|
NM_000080.4(CHRNE):c.1033-5C>T
|
rs928738409
|
|
NM_000080.4(CHRNE):c.1033-8_1033-3dup
|
rs761361955
|
|
NM_000080.4(CHRNE):c.1038C>A (p.Leu346=)
|
|
|
NM_000080.4(CHRNE):c.1038C>T (p.Leu346=)
|
rs1275628199
|
|
NM_000080.4(CHRNE):c.1039C>T (p.Leu347=)
|
|
|
NM_000080.4(CHRNE):c.1045C>T (p.Leu349=)
|
|
|
NM_000080.4(CHRNE):c.1056C>A (p.Arg352=)
|
rs558633663
|
|
NM_000080.4(CHRNE):c.105T>C (p.Tyr35=)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.1068C>A (p.Ser356=)
|
|
|
NM_000080.4(CHRNE):c.1080C>T (p.Pro360=)
|
rs886042727
|
|
NM_000080.4(CHRNE):c.1086C>T (p.Ala362=)
|
rs1213521480
|
|
NM_000080.4(CHRNE):c.108C>T (p.Asp36=)
|
|
|
NM_000080.4(CHRNE):c.1090C>A (p.Arg364=)
|
|
|
NM_000080.4(CHRNE):c.1092G>A (p.Arg364=)
|
|
|
NM_000080.4(CHRNE):c.1095C>T (p.Ala365=)
|
|
|
NM_000080.4(CHRNE):c.1098C>A (p.Ala366=)
|
rs778313885
|
|
NM_000080.4(CHRNE):c.1101G>A (p.Ser367=)
|
|
|
NM_000080.4(CHRNE):c.1101G>C (p.Ser367=)
|
rs1969857597
|
|
NM_000080.4(CHRNE):c.1104C>A (p.Pro368=)
|
rs767374241
|
|
NM_000080.4(CHRNE):c.1108A>C (p.Arg370=)
|
|
|
NM_000080.4(CHRNE):c.1111C>A (p.Arg371=)
|
|
|
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=)
|
rs1226276974
|
|
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=)
|
rs372862723
|
|
NM_000080.4(CHRNE):c.1119G>C (p.Ser373=)
|
rs372862723
|
|
NM_000080.4(CHRNE):c.1122G>C (p.Ser374=)
|
|
|
NM_000080.4(CHRNE):c.1129T>C (p.Leu377=)
|
|
|
NM_000080.4(CHRNE):c.1134G>A (p.Leu378=)
|
|
|
NM_000080.4(CHRNE):c.1137C>T (p.Leu379=)
|
rs368940455
|
|
NM_000080.4(CHRNE):c.1140C>T (p.Arg380=)
|
|
|
NM_000080.4(CHRNE):c.1143G>C (p.Ala381=)
|
|
|
NM_000080.4(CHRNE):c.1150C>T (p.Leu384=)
|
|
|
NM_000080.4(CHRNE):c.1155A>T (p.Ile385=)
|
|
|
NM_000080.4(CHRNE):c.1158G>A (p.Leu386=)
|
|
|
NM_000080.4(CHRNE):c.1161A>G (p.Lys387=)
|
rs2151094537
|
|
NM_000080.4(CHRNE):c.1164G>A (p.Lys388=)
|
|
|
NM_000080.4(CHRNE):c.1167A>G (p.Pro389=)
|
rs1211648043
|
|
NM_000080.4(CHRNE):c.1168C>A (p.Arg390=)
|
rs140763858
|
|
NM_000080.4(CHRNE):c.1170G>A (p.Arg390=)
|
|
|
NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg)
|
rs146921234
|
|
NM_000080.4(CHRNE):c.1173C>T (p.Ser391=)
|
rs146921234
|
|
NM_000080.4(CHRNE):c.1176G>A (p.Glu392=)
|
rs768670572
|
|
NM_000080.4(CHRNE):c.1179C>A (p.Leu393=)
|
|
|
NM_000080.4(CHRNE):c.1179C>G (p.Leu393=)
|
rs1159106476
|
|
NM_000080.4(CHRNE):c.1179C>T (p.Leu393=)
|
|
|
NM_000080.4(CHRNE):c.117C>T (p.Ser39=)
|
rs1970031660
|
|
NM_000080.4(CHRNE):c.1185T>C (p.Phe395=)
|
|
|
NM_000080.4(CHRNE):c.1188G>A (p.Glu396=)
|
|
|
NM_000080.4(CHRNE):c.1191G>T (p.Gly397=)
|
|
|
NM_000080.4(CHRNE):c.1200C>T (p.His400=)
|
rs2151094448
|
|
NM_000080.4(CHRNE):c.1203G>A (p.Arg401=)
|
rs1969848614
|
|
NM_000080.4(CHRNE):c.1203G>C (p.Arg401=)
|
|
|
NM_000080.4(CHRNE):c.1209G>A (p.Gly403=)
|
rs1414430330
|
|
NM_000080.4(CHRNE):c.1212C>A (p.Thr404=)
|
|
|
NM_000080.4(CHRNE):c.1212C>T (p.Thr404=)
|
rs1300177355
|
|
NM_000080.4(CHRNE):c.1218G>A (p.Thr406=)
|
rs751373916
|
|
NM_000080.4(CHRNE):c.1219+12G>A
|
|
|
NM_000080.4(CHRNE):c.1219+15C>T
|
|
|
NM_000080.4(CHRNE):c.1219+16C>T
|
|
|
NM_000080.4(CHRNE):c.1219+17T>C
|
|
|
NM_000080.4(CHRNE):c.1219+17T>G
|
|
|
NM_000080.4(CHRNE):c.1219+19G>T
|
|
|
NM_000080.4(CHRNE):c.1219+20C>T
|
|
|
NM_000080.4(CHRNE):c.1219+23G>A
|
|
|
NM_000080.4(CHRNE):c.1219+5_1219+6dup
|
|
|
NM_000080.4(CHRNE):c.1219+8C>G
|
rs1474684898
|
|
NM_000080.4(CHRNE):c.1219+8C>T
|
|
|
NM_000080.4(CHRNE):c.1219+8dup
|
|
|
NM_000080.4(CHRNE):c.1220-14G>A
|
|
|
NM_000080.4(CHRNE):c.1220-14_1220-3dup
|
|
|
NM_000080.4(CHRNE):c.1220-15T>C
|
|
|
NM_000080.4(CHRNE):c.1220-16G>A
|
|
|
NM_000080.4(CHRNE):c.1220-18C>T
|
|
|
NM_000080.4(CHRNE):c.1220-19C>A
|
|
|
NM_000080.4(CHRNE):c.1220-20C>A
|
|
|
NM_000080.4(CHRNE):c.1220-4C>A
|
|
|
NM_000080.4(CHRNE):c.1220-4C>G
|
rs201553105
|
|
NM_000080.4(CHRNE):c.1220-5G>T
|
|
|
NM_000080.4(CHRNE):c.1220-6C>G
|
|
|
NM_000080.4(CHRNE):c.1220-7C>G
|
|
|
NM_000080.4(CHRNE):c.1220-9C>G
|
rs748607118
|
|
NM_000080.4(CHRNE):c.1233G>A (p.Gln411=)
|
rs2151094069
|
|
NM_000080.4(CHRNE):c.1236C>T (p.Ser412=)
|
|
|
NM_000080.4(CHRNE):c.1239G>C (p.Leu413=)
|
rs1969839608
|
|
NM_000080.4(CHRNE):c.1239G>T (p.Leu413=)
|
|
|
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.1242C>G (p.Gly414=)
|
|
|
NM_000080.4(CHRNE):c.1242C>T (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.1248C>T (p.Ala416=)
|
rs966410323
|
|
NM_000080.4(CHRNE):c.1251C>A (p.Ala417=)
|
|
|
NM_000080.4(CHRNE):c.1251C>T (p.Ala417=)
|
rs2151094028
|
|
NM_000080.4(CHRNE):c.1254C>G (p.Pro418=)
|
|
|
NM_000080.4(CHRNE):c.1257G>A (p.Glu419=)
|
|
|
NM_000080.4(CHRNE):c.1266C>T (p.Cys422=)
|
rs994146259
|
|
NM_000080.4(CHRNE):c.126G>A (p.Val42=)
|
|
|
NM_000080.4(CHRNE):c.1281G>A (p.Val427=)
|
rs2151093968
|
|
NM_000080.4(CHRNE):c.1302G>A (p.Thr434=)
|
|
|
NM_000080.4(CHRNE):c.1308T>C (p.Asp436=)
|
|
|
NM_000080.4(CHRNE):c.1311G>A (p.Gln437=)
|
|
|
NM_000080.4(CHRNE):c.1317C>T (p.Ala439=)
|
|
|
NM_000080.4(CHRNE):c.1320C>A (p.Thr440=)
|
rs1292101958
|
|
NM_000080.4(CHRNE):c.1326+13_1326+32del
|
rs780277856
|
|
NM_000080.4(CHRNE):c.1326+14C>T
|
|
|
NM_000080.4(CHRNE):c.1326+18G>A
|
|
|
NM_000080.4(CHRNE):c.1326+20C>A
|
|
|
NM_000080.4(CHRNE):c.1326+7C>T
|
|
|
NM_000080.4(CHRNE):c.1327-14C>G
|
|
|
NM_000080.4(CHRNE):c.1327-14C>T
|
|
|
NM_000080.4(CHRNE):c.1327-17_1327-16del
|
rs774197166
|
|
NM_000080.4(CHRNE):c.1327-18G>C
|
|
|
NM_000080.4(CHRNE):c.1327-4C>G
|
rs2151093603
|
|
NM_000080.4(CHRNE):c.1327-5C>A
|
rs2151093607
|
|
NM_000080.4(CHRNE):c.1327-5C>T
|
rs2151093607
|
|
NM_000080.4(CHRNE):c.1327-6C>T
|
|
|
NM_000080.4(CHRNE):c.1329A>G (p.Glu443=)
|
|
|
NM_000080.4(CHRNE):c.132G>A (p.Glu44=)
|
rs2151098887
|
|
NM_000080.4(CHRNE):c.1335C>A (p.Ser445=)
|
rs753202734
|
|
NM_000080.4(CHRNE):c.1335C>G (p.Ser445=)
|
rs753202734
|
|
NM_000080.4(CHRNE):c.1338C>T (p.Asp446=)
|
|
|
NM_000080.4(CHRNE):c.1344G>A (p.Val448=)
|
rs143098859
|
|
NM_000080.4(CHRNE):c.1344G>C (p.Val448=)
|
rs143098859
|
|
NM_000080.4(CHRNE):c.1362T>C (p.Leu454=)
|
|
|
NM_000080.4(CHRNE):c.1365C>T (p.Asp455=)
|
rs1969823137
|
|
NM_000080.4(CHRNE):c.1383C>A (p.Ala461=)
|
|
|
NM_000080.4(CHRNE):c.1383C>T (p.Ala461=)
|
rs570378547
|
|
NM_000080.4(CHRNE):c.1387C>T (p.Leu463=)
|
|
|
NM_000080.4(CHRNE):c.138G>A (p.Glu46=)
|
rs2151098883
|
|
NM_000080.4(CHRNE):c.1401C>T (p.Ser467=)
|
|
|
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1404G>C (p.Val468=)
|
|
|
NM_000080.4(CHRNE):c.1410C>T (p.Ser470=)
|
rs2151093451
|
|
NM_000080.4(CHRNE):c.1419C>T (p.Ile473=)
|
|
|
NM_000080.4(CHRNE):c.141T>C (p.Asp47=)
|
|
|
NM_000080.4(CHRNE):c.1428G>T (p.Gly476=)
|
|
|
NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=)
|
rs763943642
|
|
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=)
|
rs2151093399
|
|
NM_000080.4(CHRNE):c.1467G>T (p.Pro489=)
|
rs950225592
|
|
NM_000080.4(CHRNE):c.1473C>T (p.Ile491=)
|
|
|
NM_000080.4(CHRNE):c.1479T>G (p.Pro493=)
|
|
|
NM_000080.4(CHRNE):c.147C>T (p.Val49=)
|
|
|
NM_000080.4(CHRNE):c.150C>T (p.Thr50=)
|
rs2151098879
|
|
NM_000080.4(CHRNE):c.159C>G (p.Leu53=)
|
|
|
NM_000080.4(CHRNE):c.159C>T (p.Leu53=)
|
rs1970030477
|
|
NM_000080.4(CHRNE):c.177T>C (p.Asn59=)
|
|
|
NM_000080.4(CHRNE):c.186A>G (p.Ser62=)
|
|
|
NM_000080.4(CHRNE):c.207T>A (p.Thr69=)
|
|
|
NM_000080.4(CHRNE):c.210C>G (p.Leu70=)
|
rs750125430
|
|
NM_000080.4(CHRNE):c.210C>T (p.Leu70=)
|
rs750125430
|
|
NM_000080.4(CHRNE):c.213C>T (p.Thr71=)
|
rs764949297
|
|
NM_000080.4(CHRNE):c.216T>G (p.Thr72=)
|
|
|
NM_000080.4(CHRNE):c.21G>C (p.Gly7=)
|
|
|
NM_000080.4(CHRNE):c.21G>T (p.Gly7=)
|
rs1166759787
|
|
NM_000080.4(CHRNE):c.24C>A (p.Val8=)
|
rs147811172
|
|
NM_000080.4(CHRNE):c.255C>G (p.Leu85=)
|
rs752486312
|
|
NM_000080.4(CHRNE):c.255C>T (p.Leu85=)
|
|
|
NM_000080.4(CHRNE):c.261C>T (p.Tyr87=)
|
|
|
NM_000080.4(CHRNE):c.264C>T (p.Ser88=)
|
|
|
NM_000080.4(CHRNE):c.267G>A (p.Lys89=)
|
|
|
NM_000080.4(CHRNE):c.270C>T (p.Asp90=)
|
|
|
NM_000080.4(CHRNE):c.27G>A (p.Leu9=)
|
|
|
NM_000080.4(CHRNE):c.282T>C (p.Gly94=)
|
|
|
NM_000080.4(CHRNE):c.294G>T (p.Leu98=)
|
|
|
NM_000080.4(CHRNE):c.295C>A (p.Arg99=)
|
rs1278514080
|
|
NM_000080.4(CHRNE):c.297A>C (p.Arg99=)
|
rs2151098555
|
|
NM_000080.4(CHRNE):c.297A>G (p.Arg99=)
|
|
|
NM_000080.4(CHRNE):c.30C>T (p.Leu10=)
|
|
|
NM_000080.4(CHRNE):c.315G>A (p.Val105=)
|
rs2151098541
|
|
NM_000080.4(CHRNE):c.333G>T (p.Val111=)
|
|
|
NM_000080.4(CHRNE):c.336G>A (p.Leu112=)
|
|
|
NM_000080.4(CHRNE):c.348T>C (p.Ile116=)
|
|
|
NM_000080.4(CHRNE):c.363A>G (p.Gly121=)
|
|
|
NM_000080.4(CHRNE):c.366G>A (p.Val122=)
|
rs2151098392
|
|
NM_000080.4(CHRNE):c.375C>T (p.Asp125=)
|
|
|
NM_000080.4(CHRNE):c.381C>T (p.Asn127=)
|
|
|
NM_000080.4(CHRNE):c.384G>A (p.Val128=)
|
|
|
NM_000080.4(CHRNE):c.387C>A (p.Leu129=)
|
|
|
NM_000080.4(CHRNE):c.387C>G (p.Leu129=)
|
rs767908282
|
|
NM_000080.4(CHRNE):c.387C>T (p.Leu129=)
|
rs767908282
|
|
NM_000080.4(CHRNE):c.390C>T (p.Val130=)
|
|
|
NM_000080.4(CHRNE):c.393C>T (p.Tyr131=)
|
rs1567639631
|
|
NM_000080.4(CHRNE):c.399C>T (p.Gly133=)
|
|
|
NM_000080.4(CHRNE):c.39G>A (p.Gly13=)
|
|
|
NM_000080.4(CHRNE):c.410C>A (p.Thr137Lys)
|
rs146089157
|
|
NM_000080.4(CHRNE):c.411G>A (p.Thr137=)
|
|
|
NM_000080.4(CHRNE):c.415C>T (p.Leu139=)
|
rs776129600
|
|
NM_000080.4(CHRNE):c.426C>T (p.Ala142=)
|
rs1970007044
|
|
NM_000080.4(CHRNE):c.438C>T (p.Ser146=)
|
rs776429372
|
|
NM_000080.4(CHRNE):c.441C>T (p.Val147=)
|
rs779058823
|
|
NM_000080.4(CHRNE):c.444C>T (p.Cys148=)
|
rs970593355
|
|
NM_000080.4(CHRNE):c.46+11G>A
|
|
|
NM_000080.4(CHRNE):c.46+19G>A
|
|
|
NM_000080.4(CHRNE):c.46+9_46+10del
|
rs2151099125
|
|
NM_000080.4(CHRNE):c.468C>G (p.Pro156=)
|
rs751830305
|
|
NM_000080.4(CHRNE):c.47-11dup
|
rs550750896
|
|
NM_000080.4(CHRNE):c.486T>C (p.Cys162=)
|
rs2151098251
|
|
NM_000080.4(CHRNE):c.489G>A (p.Ser163=)
|
rs2151098246
|
|
NM_000080.4(CHRNE):c.489G>T (p.Ser163=)
|
|
|
NM_000080.4(CHRNE):c.48C>T (p.Gly16=)
|
|
|
NM_000080.4(CHRNE):c.507G>A (p.Gln169=)
|
|
|
NM_000080.4(CHRNE):c.510G>T (p.Thr170=)
|
rs749454549
|
|
NM_000080.4(CHRNE):c.513C>T (p.Tyr171=)
|
rs1276027772
|
|
NM_000080.4(CHRNE):c.51G>A (p.Arg17=)
|
rs758923058
|
|
NM_000080.4(CHRNE):c.528G>A (p.Val176=)
|
rs2151097833
|
|
NM_000080.4(CHRNE):c.531G>A (p.Glu177=)
|
rs1597620349
|
|
NM_000080.4(CHRNE):c.540T>C (p.Phe180=)
|
|
|
NM_000080.4(CHRNE):c.543C>T (p.Ala181=)
|
|
|
NM_000080.4(CHRNE):c.549C>T (p.Asp183=)
|
rs2151097801
|
|
NM_000080.4(CHRNE):c.552C>T (p.Asn184=)
|
rs978516236
|
|
NM_000080.4(CHRNE):c.558C>G (p.Gly186=)
|
rs761643342
|
|
NM_000080.4(CHRNE):c.567C>A (p.Ile189=)
|
|
|
NM_000080.4(CHRNE):c.570C>T (p.Asn190=)
|
rs1969985137
|
|
NM_000080.4(CHRNE):c.57G>A (p.Val19=)
|
|
|
NM_000080.4(CHRNE):c.582C>A (p.Ile194=)
|
rs2151097756
|
|
NM_000080.4(CHRNE):c.594C>T (p.Ala198=)
|
rs2151097737
|
|
NM_000080.4(CHRNE):c.601+8C>T
|
rs539874157
|
|
NM_000080.4(CHRNE):c.602-10C>T
|
rs765175027
|
|
NM_000080.4(CHRNE):c.609C>A (p.Gly203=)
|
rs912870458
|
|
NM_000080.4(CHRNE):c.609C>G (p.Gly203=)
|
rs912870458
|
|
NM_000080.4(CHRNE):c.609C>T (p.Gly203=)
|
|
|
NM_000080.4(CHRNE):c.60G>A (p.Gly20=)
|
rs2151098969
|
|
NM_000080.4(CHRNE):c.612G>A (p.Glu204=)
|
|
|
NM_000080.4(CHRNE):c.621C>A (p.Ile207=)
|
rs2151097478
|
|
NM_000080.4(CHRNE):c.621C>T (p.Ile207=)
|
rs2151097478
|
|
NM_000080.4(CHRNE):c.630C>T (p.Cys210=)
|
|
|
NM_000080.4(CHRNE):c.639G>A (p.Val213=)
|
rs1969972651
|
|
NM_000080.4(CHRNE):c.63G>A (p.Lys21=)
|
rs2151098964
|
|
NM_000080.4(CHRNE):c.645C>T (p.Arg215=)
|
rs2151097437
|
|
NM_000080.4(CHRNE):c.648C>T (p.Arg216=)
|
rs2151097429
|
|
NM_000080.4(CHRNE):c.651C>T (p.His217=)
|
rs564044217
|
|
NM_000080.4(CHRNE):c.654C>T (p.His218=)
|
rs751388919
|
|
NM_000080.4(CHRNE):c.657T>A (p.Gly219=)
|
rs1969971346
|
|
NM_000080.4(CHRNE):c.660C>A (p.Gly220=)
|
rs1969971072
|
|
NM_000080.4(CHRNE):c.660C>T (p.Gly220=)
|
rs1969971072
|
|
NM_000080.4(CHRNE):c.666C>G (p.Thr222=)
|
|
|
NM_000080.4(CHRNE):c.666C>T (p.Thr222=)
|
rs1224426288
|
|
NM_000080.4(CHRNE):c.672C>A (p.Gly224=)
|
rs2151097392
|
|
NM_000080.4(CHRNE):c.675A>G (p.Pro225=)
|
|
|
NM_000080.4(CHRNE):c.678G>A (p.Gly226=)
|
rs1431059369
|
|
NM_000080.4(CHRNE):c.687C>T (p.Asp229=)
|
rs1479728021
|
|
NM_000080.4(CHRNE):c.690C>A (p.Val230=)
|
rs1597619417
|
|
NM_000080.4(CHRNE):c.690C>T (p.Val230=)
|
rs1597619417
|
|
NM_000080.4(CHRNE):c.696C>T (p.Tyr232=)
|
rs1284899632
|
|
NM_000080.4(CHRNE):c.699G>C (p.Ser233=)
|
rs375146171
|
|
NM_000080.4(CHRNE):c.702C>A (p.Leu234=)
|
|
|
NM_000080.4(CHRNE):c.705C>A (p.Ile235=)
|
rs748765369
|
|
NM_000080.4(CHRNE):c.705C>T (p.Ile235=)
|
rs748765369
|
|
NM_000080.4(CHRNE):c.711C>T (p.Arg237=)
|
|
|
NM_000080.4(CHRNE):c.714G>A (p.Arg238=)
|
rs768299579
|
|
NM_000080.4(CHRNE):c.717G>A (p.Lys239=)
|
|
|
NM_000080.4(CHRNE):c.720G>A (p.Pro240=)
|
|
|
NM_000080.4(CHRNE):c.729C>T (p.Tyr243=)
|
|
|
NM_000080.4(CHRNE):c.738C>T (p.Asn246=)
|
rs2151097269
|
|
NM_000080.4(CHRNE):c.741C>T (p.Ile247=)
|
rs1969967603
|
|
NM_000080.4(CHRNE):c.747G>C (p.Val249=)
|
|
|
NM_000080.4(CHRNE):c.753T>C (p.Cys251=)
|
|
|
NM_000080.4(CHRNE):c.759C>A (p.Leu253=)
|
rs1969966911
|
|
NM_000080.4(CHRNE):c.75G>A (p.Leu25=)
|
rs2151098953
|
|
NM_000080.4(CHRNE):c.765G>A (p.Ser255=)
|
|
|
NM_000080.4(CHRNE):c.765G>C (p.Ser255=)
|
|
|
NM_000080.4(CHRNE):c.769C>T (p.Leu257=)
|
|
|
NM_000080.4(CHRNE):c.771G>C (p.Leu257=)
|
|
|
NM_000080.4(CHRNE):c.775C>T (p.Leu259=)
|
rs2151097232
|
|
NM_000080.4(CHRNE):c.77G>A (p.Arg26His)
|
rs188661284
|
|
NM_000080.4(CHRNE):c.780C>A (p.Leu260=)
|
|
|
NM_000080.4(CHRNE):c.783C>T (p.Ala261=)
|
|
|
NM_000080.4(CHRNE):c.786C>T (p.Tyr262=)
|
rs2151097217
|
|
NM_000080.4(CHRNE):c.789C>T (p.Phe263=)
|
rs761487611
|
|
NM_000080.4(CHRNE):c.790C>T (p.Leu264=)
|
|
|
NM_000080.4(CHRNE):c.798G>A (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.798G>C (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.798G>T (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.802+9T>C
|
rs199876621
|
|
NM_000080.4(CHRNE):c.807C>T (p.Gly269=)
|
|
|
NM_000080.4(CHRNE):c.816A>G (p.Lys272=)
|
|
|
NM_000080.4(CHRNE):c.822G>A (p.Thr274=)
|
|
|
NM_000080.4(CHRNE):c.825C>A (p.Val275=)
|
|
|
NM_000080.4(CHRNE):c.828C>T (p.Ser276=)
|
rs1969960127
|
|
NM_000080.4(CHRNE):c.834C>T (p.Asn278=)
|
rs996197218
|
|
NM_000080.4(CHRNE):c.838C>T (p.Leu280=)
|
rs900612569
|
|
NM_000080.4(CHRNE):c.846C>T (p.Ala282=)
|
|
|
NM_000080.4(CHRNE):c.858C>T (p.Phe286=)
|
rs1597618773
|
|
NM_000080.4(CHRNE):c.864C>T (p.Phe288=)
|
rs1282925982
|
|
NM_000080.4(CHRNE):c.867C>T (p.Leu289=)
|
|
|
NM_000080.4(CHRNE):c.870T>C (p.Ile290=)
|
rs775157123
|
|
NM_000080.4(CHRNE):c.87C>T (p.His29=)
|
rs1567640279
|
|
NM_000080.4(CHRNE):c.885A>G (p.Pro295=)
|
rs1597618703
|
|
NM_000080.4(CHRNE):c.891T>G (p.Thr297=)
|
rs1969956471
|
|
NM_000080.4(CHRNE):c.894T>G (p.Ser298=)
|
rs2151097016
|
|
NM_000080.4(CHRNE):c.895C>T (p.Leu299=)
|
rs2151097014
|
|
NM_000080.4(CHRNE):c.897G>A (p.Leu299=)
|
rs2151097007
|
|
NM_000080.4(CHRNE):c.906G>T (p.Pro302=)
|
rs374156332
|
|
NM_000080.4(CHRNE):c.909C>G (p.Leu303=)
|
|
|
NM_000080.4(CHRNE):c.915C>A (p.Gly305=)
|
rs992228063
|
|
NM_000080.4(CHRNE):c.917+7C>T
|
rs961101973
|
|
NM_000080.4(CHRNE):c.918-8C>T
|
rs1597615600
|
|
NM_000080.4(CHRNE):c.924T>G (p.Leu308=)
|
|
|
NM_000080.4(CHRNE):c.933C>G (p.Val311=)
|
|
|
NM_000080.4(CHRNE):c.948G>C (p.Thr316=)
|
|
|
NM_000080.4(CHRNE):c.948G>T (p.Thr316=)
|
rs144207552
|
|
NM_000080.4(CHRNE):c.951C>G (p.Leu317=)
|
rs757563966
|
|
NM_000080.4(CHRNE):c.957C>A (p.Val319=)
|
|
|
NM_000080.4(CHRNE):c.957C>T (p.Val319=)
|
rs1244564448
|
|
NM_000080.4(CHRNE):c.969C>A (p.Val323=)
|
rs532669011
|
|
NM_000080.4(CHRNE):c.969C>T (p.Val323=)
|
rs532669011
|
|
NM_000080.4(CHRNE):c.96C>T (p.Phe32=)
|
|
|
NM_000080.4(CHRNE):c.975G>C (p.Val325=)
|
rs1969881791
|
|
NM_000080.4(CHRNE):c.978C>T (p.Leu326=)
|
|
|
NM_000080.4(CHRNE):c.984G>A (p.Val328=)
|
|
|
NM_000080.4(CHRNE):c.984G>T (p.Val328=)
|
rs1969880796
|
|
NM_000080.4(CHRNE):c.996G>A (p.Thr332=)
|
rs772819662
|
|
NM_000080.4(CHRNE):c.996G>C (p.Thr332=)
|
|
|
NM_000080.4(CHRNE):c.996G>T (p.Thr332=)
|
rs772819662
|
|
NM_000080.4(CHRNE):c.999C>T (p.Pro333=)
|
|
|
NM_000080.4(CHRNE):c.99C>T (p.Asn33=)
|
|
|
NM_000334.4(SCN4A):c.1845+18A>T
|
rs775429476
|
|
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=)
|
rs754110462
|
|
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=)
|
rs530640921
|
|
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=)
|
rs574892874
|
|
NM_000334.4(SCN4A):c.393-6C>A
|
rs373185863
|
|
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu)
|
rs543502873
|
|
NM_000334.4(SCN4A):c.483-4C>G
|
rs200062384
|
|
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=)
|
rs373804267
|
|
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)
|
rs754357879
|
|
NM_000747.3(CHRNB1):c.1005C>T (p.Arg335=)
|
|
|
NM_000747.3(CHRNB1):c.1044+12CTC[2]
|
rs536204964
|
|
NM_000747.3(CHRNB1):c.1044+14C>T
|
|
|
NM_000747.3(CHRNB1):c.1044+7_1044+10del
|
rs1311886791
|
|
NM_000747.3(CHRNB1):c.1062T>G (p.Leu354=)
|
|
|
NM_000747.3(CHRNB1):c.1066C>T (p.Leu356=)
|
|
|
NM_000747.3(CHRNB1):c.1074G>C (p.Leu358=)
|
rs2150842897
|
|
NM_000747.3(CHRNB1):c.1137A>C (p.Pro379=)
|
rs1597754960
|
|
NM_000747.3(CHRNB1):c.1164T>C (p.Asp388=)
|
|
|
NM_000747.3(CHRNB1):c.1217+10C>T
|
|
|
NM_000747.3(CHRNB1):c.1217+11G>A
|
rs1017100339
|
|
NM_000747.3(CHRNB1):c.1218-10C>T
|
rs571453172
|
|
NM_000747.3(CHRNB1):c.1218-15T>C
|
|
|
NM_000747.3(CHRNB1):c.1248G>C (p.Leu416=)
|
|
|
NM_000747.3(CHRNB1):c.129G>A (p.Arg43=)
|
rs1597747394
|
|
NM_000747.3(CHRNB1):c.1314C>T (p.Ser438=)
|
rs576092367
|
|
NM_000747.3(CHRNB1):c.1329C>T (p.Ile443=)
|
|
|
NM_000747.3(CHRNB1):c.1362T>C (p.Asp454=)
|
rs2150843392
|
|
NM_000747.3(CHRNB1):c.1365+18G>A
|
|
|
NM_000747.3(CHRNB1):c.1410C>T (p.Leu470=)
|
|
|
NM_000747.3(CHRNB1):c.1437C>T (p.Thr479=)
|
rs1056901434
|
|
NM_000747.3(CHRNB1):c.1497C>T (p.Pro499=)
|
rs1337697871
|
|
NM_000747.3(CHRNB1):c.189C>T (p.Leu63=)
|
|
|
NM_000747.3(CHRNB1):c.192C>T (p.Ile64=)
|
rs2150837030
|
|
NM_000747.3(CHRNB1):c.198+14G>C
|
|
|
NM_000747.3(CHRNB1):c.198+14G>T
|
|
|
NM_000747.3(CHRNB1):c.198+15G>A
|
rs199665345
|
|
NM_000747.3(CHRNB1):c.198+17G>C
|
|
|
NM_000747.3(CHRNB1):c.198+7G>T
|
|
|
NM_000747.3(CHRNB1):c.199-13T>G
|
rs2150837467
|
|
NM_000747.3(CHRNB1):c.199-8C>G
|
|
|
NM_000747.3(CHRNB1):c.21G>C (p.Leu7=)
|
|
|
NM_000747.3(CHRNB1):c.244-14C>G
|
|
|
NM_000747.3(CHRNB1):c.300G>A (p.Ser100=)
|
rs376099204
|
|
NM_000747.3(CHRNB1):c.306C>T (p.Arg102=)
|
|
|
NM_000747.3(CHRNB1):c.312G>A (p.Thr104=)
|
|
|
NM_000747.3(CHRNB1):c.321C>T (p.Ser107=)
|
|
|
NM_000747.3(CHRNB1):c.330C>G (p.Leu110=)
|
rs760133867
|
|
NM_000747.3(CHRNB1):c.336C>T (p.Asp112=)
|
|
|
NM_000747.3(CHRNB1):c.354-6C>G
|
|
|
NM_000747.3(CHRNB1):c.372C>T (p.Asp124=)
|
|
|
NM_000747.3(CHRNB1):c.387T>C (p.Ile129=)
|
|
|
NM_000747.3(CHRNB1):c.399G>A (p.Val133=)
|
|
|
NM_000747.3(CHRNB1):c.408C>T (p.Asp136=)
|
|
|
NM_000747.3(CHRNB1):c.429C>G (p.Pro143=)
|
|
|
NM_000747.3(CHRNB1):c.432G>A (p.Pro144=)
|
|
|
NM_000747.3(CHRNB1):c.462+20G>A
|
|
|
NM_000747.3(CHRNB1):c.477C>G (p.Pro159=)
|
|
|
NM_000747.3(CHRNB1):c.480C>T (p.Phe160=)
|
rs1416889935
|
|
NM_000747.3(CHRNB1):c.516C>T (p.Tyr172=)
|
|
|
NM_000747.3(CHRNB1):c.531G>A (p.Ser177=)
|
rs886053393
|
|
NM_000747.3(CHRNB1):c.531G>T (p.Ser177=)
|
rs886053393
|
|
NM_000747.3(CHRNB1):c.58+12C>A
|
|
|
NM_000747.3(CHRNB1):c.58+20G>A
|
rs1908548076
|
|
NM_000747.3(CHRNB1):c.610+13G>T
|
|
|
NM_000747.3(CHRNB1):c.611-15_611-13del
|
rs752595679
|
|
NM_000747.3(CHRNB1):c.611-6C>T
|
|
|
NM_000747.3(CHRNB1):c.611-9C>G
|
rs538827412
|
|
NM_000747.3(CHRNB1):c.612G>A (p.Glu204=)
|
rs754405279
|
|
NM_000747.3(CHRNB1):c.663A>T (p.Pro221=)
|
rs759723394
|
|
NM_000747.3(CHRNB1):c.745C>T (p.Leu249=)
|
|
|
NM_000747.3(CHRNB1):c.784C>T (p.Leu262=)
|
|
|
NM_000747.3(CHRNB1):c.78G>A (p.Ala26=)
|
rs776631018
|
|
NM_000747.3(CHRNB1):c.820+16G>T
|
|
|
NM_000747.3(CHRNB1):c.821-14C>T
|
|
|
NM_000747.3(CHRNB1):c.850C>T (p.Leu284=)
|
|
|
NM_000747.3(CHRNB1):c.877C>T (p.Leu293=)
|
rs956543933
|
|
NM_000747.3(CHRNB1):c.930G>A (p.Lys310=)
|
|
|
NM_000747.3(CHRNB1):c.972C>T (p.Ile324=)
|
rs781190969
|
|
NM_000747.3(CHRNB1):c.981C>T (p.Val327=)
|
|
|
NM_000747.3(CHRNB1):c.993C>T (p.Asn331=)
|
|
|
NM_000747.3(CHRNB1):c.9A>G (p.Pro3=)
|
rs1481997291
|
|
NM_000751.3(CHRND):c.*547G>C
|
rs2343841
|
|
NM_001145536.2(C17orf107):c.*1096C>A
|
|
|
NM_001145536.2(C17orf107):c.*1096C>T
|
rs2151097867
|
|
NM_001145536.2(C17orf107):c.*1097G>A
|
|
|
NM_001145536.2(C17orf107):c.*1099A>G
|
|
|
NM_001145536.2(C17orf107):c.*1103_*1115dup
|
|
|
NM_001145536.2(C17orf107):c.*1104G>C
|
|
|
NM_001145536.2(C17orf107):c.*1107C>T
|
|
|
NM_001145536.2(C17orf107):c.*1109G>A
|
|
|
NM_001145536.2(C17orf107):c.*1110G>A
|
|
|
NM_001145536.2(C17orf107):c.*1111G>A
|
|
|
NM_001145536.2(C17orf107):c.*1381C>T
|
|
|
NM_001145536.2(C17orf107):c.*1382G>A
|
|
|
NM_001145536.2(C17orf107):c.*1383G>A
|
|
|
NM_001145536.2(C17orf107):c.*1390T>G
|
|
|
NM_001145536.2(C17orf107):c.*1390_*1391delinsAA
|
rs2151098237
|
|
NM_001145536.2(C17orf107):c.*1391C>A
|
|
|
NM_001145536.2(C17orf107):c.*1558T>C
|
|
|
NM_001145536.2(C17orf107):c.*1562C>T
|
rs2151098423
|
|
NM_001145536.2(C17orf107):c.*1567G>A
|
|
|
NM_001145536.2(C17orf107):c.*1571A>T
|
|
|
NM_001145536.2(C17orf107):c.*1573C>A
|
|
|
NM_001145536.2(C17orf107):c.*1573C>G
|
|
|
NM_001145536.2(C17orf107):c.*1573C>T
|
|
|
NM_001145536.2(C17orf107):c.*1574G>A
|
|
|
NM_001145536.2(C17orf107):c.*1574G>C
|
|
|
NM_001145536.2(C17orf107):c.*1670G>T
|
|
|
NM_001145536.2(C17orf107):c.*1674C>T
|
|
|
NM_001145536.2(C17orf107):c.*1675G>A
|
rs371037732
|
|
NM_001145536.2(C17orf107):c.*1675G>C
|
rs371037732
|
|
NM_001145536.2(C17orf107):c.*1676G>A
|
rs2151098517
|
|
NM_001145536.2(C17orf107):c.*1677T>C
|
|
|
NM_001145536.2(C17orf107):c.*1798G>C
|
|
|
NM_001145536.2(C17orf107):c.*1799G>T
|
|
|
NM_001145536.2(C17orf107):c.*1800G>A
|
|
|
NM_001145536.2(C17orf107):c.*1803G>A
|
rs778566436
|
|
NM_001145536.2(C17orf107):c.*1803G>T
|
|
|
NM_001145536.2(C17orf107):c.*1808A>G
|
|
|
NM_001145536.2(C17orf107):c.*1809T>C
|
|
|
NM_001145536.2(C17orf107):c.*1810G>A
|
|
|
NM_001145536.2(C17orf107):c.*1811G>T
|
|
|
NM_001145536.2(C17orf107):c.*1900C>T
|
|
|
NM_001145536.2(C17orf107):c.*1910G>A
|
|
|
NM_001145536.2(C17orf107):c.*1965C>T
|
|
|
NM_001145536.2(C17orf107):c.*1968A>G
|
rs2151098764
|
|
NM_001145536.2(C17orf107):c.*1970G>C
|
|
|
NM_001145536.2(C17orf107):c.*1971G>A
|
rs2151098767
|
|
NM_001145536.2(C17orf107):c.*1974G>C
|
|
|
NM_001145536.2(C17orf107):c.*1978G>C
|
|
|
NM_001145536.2(C17orf107):c.*2072G>T
|
|
|
NM_001145536.2(C17orf107):c.*2074T>G
|
|
|
NM_001145536.2(C17orf107):c.*2075G>A
|
|
|
NM_001145536.2(C17orf107):c.*2076G>A
|
|
|
NM_001145536.2(C17orf107):c.*2078G>A
|
|
|
NM_001145536.2(C17orf107):c.*2078G>C
|
rs1341882862
|
|
NM_001145536.2(C17orf107):c.*2078G>T
|
|
|
NM_001145536.2(C17orf107):c.*2079G>T
|
|
|
NM_001145536.2(C17orf107):c.*2081dup
|
|
|
NM_001145536.2(C17orf107):c.*2234C>T
|
rs767084417
|
|
NM_001145536.2(C17orf107):c.*2236A>G
|
|
|
NM_001145536.2(C17orf107):c.*2241G>A
|
|
|
NM_001145536.2(C17orf107):c.*2244A>G
|
|
|
NM_001145536.2(C17orf107):c.*240C>T
|
|
|
NM_001145536.2(C17orf107):c.*241G>T
|
|
|
NM_001145536.2(C17orf107):c.*242C>T
|
|
|
NM_001145536.2(C17orf107):c.*243G>A
|
|
|
NM_001145536.2(C17orf107):c.*243G>C
|
|
|
NM_001145536.2(C17orf107):c.*244G>A
|
|
|
NM_001145536.2(C17orf107):c.*245G>A
|
|
|
NM_001145536.2(C17orf107):c.*247G>A
|
|
|
NM_001145536.2(C17orf107):c.*251C>T
|
rs754325287
|
|
NM_001145536.2(C17orf107):c.*252G>A
|
rs1337368697
|
|
NM_001145536.2(C17orf107):c.*253G>T
|
|
|
NM_001145536.2(C17orf107):c.*381_*390dup
|
rs767922649
|
|
NM_001145536.2(C17orf107):c.*384G>A
|
rs1326169288
|
|
NM_001145536.2(C17orf107):c.*384G>C
|
|
|
NM_001145536.2(C17orf107):c.*386G>A
|
|
|
NM_001145536.2(C17orf107):c.*386G>C
|
|
|
NM_001145536.2(C17orf107):c.*386del
|
|
|
NM_001145536.2(C17orf107):c.*388_*397dup
|
|
|
NM_001145536.2(C17orf107):c.*389A>G
|
|
|
NM_001145536.2(C17orf107):c.*390G>T
|
|
|
NM_001145536.2(C17orf107):c.*439T>C
|
|
|
NM_001145536.2(C17orf107):c.*439T>G
|
|
|
NM_001145536.2(C17orf107):c.*441C>T
|
|
|
NM_001145536.2(C17orf107):c.*442G>C
|
|
|
NM_001145536.2(C17orf107):c.*445G>A
|
|
|
NM_001145536.2(C17orf107):c.*447C>T
|
rs2151097179
|
|
NM_001145536.2(C17orf107):c.*448A>C
|
rs199876621
|
|
NM_001145536.2(C17orf107):c.*661C>A
|
|
|
NM_001145536.2(C17orf107):c.*661C>T
|
|
|
NM_001145536.2(C17orf107):c.*662G>A
|
rs764599384
|
|
NM_001145536.2(C17orf107):c.*663G>A
|
|
|
NM_001145536.2(C17orf107):c.*664G>A
|
rs1298446963
|
|
NM_001145536.2(C17orf107):c.*664_*665insTC
|
|
|
NM_001145536.2(C17orf107):c.*666C>A
|
rs1382185555
|
|
NM_001145536.2(C17orf107):c.*667G>C
|
rs765175027
|
|
NM_001145536.2(C17orf107):c.*668G>T
|
|
|
NM_001145536.2(C17orf107):c.*669G>A
|
|
|
NM_001145536.2(C17orf107):c.*670G>A
|
|
|
NM_001145536.2(C17orf107):c.*671G>A
|
|
|
NM_001145536.2(C17orf107):c.*671G>C
|
|
|
NM_001145536.2(C17orf107):c.*674C>T
|
|
|
NM_001145536.2(C17orf107):c.*675G>A
|
|
|
NM_001145536.2(C17orf107):c.*676G>A
|
|
|
NM_001145536.2(C17orf107):c.*973del
|
|
|
NM_001145536.2(C17orf107):c.*978G>A
|
|
|
NM_001145536.2(C17orf107):c.*978G>C
|
|
|
NM_001145536.2(C17orf107):c.*983G>A
|
rs2151097723
|
|
NM_001145536.2(C17orf107):c.*985G>T
|
rs748517215
|
|
NM_001145536.2(C17orf107):c.-162A>G
|
|
|
NM_001145536.2(C17orf107):c.-164G>A
|
|
|
NM_001145536.2(C17orf107):c.-164G>T
|
|
|
NM_001145536.2(C17orf107):c.-165G>A
|
|
|
NM_001145536.2(C17orf107):c.-167A>C
|
|
|
NM_001145536.2(C17orf107):c.-168G>A
|
|
|
NM_001145536.2(C17orf107):c.-169G>A
|
|
|
NM_001145536.2(C17orf107):c.-171C>G
|
|
|
NM_001145536.2(C17orf107):c.-172C>T
|
rs2151095352
|
|
NM_001145536.2(C17orf107):c.-173G>C
|
rs1597615600
|
|
NM_001145536.2(C17orf107):c.-175G>A
|
|
|
NM_001145536.2(C17orf107):c.-176G>A
|
rs1386033276
|
|
NM_001145536.2(C17orf107):c.-177A>G
|
rs1300080950
|
|
NM_001171613.2(PREPL):c.-48-10C>T
|
rs2104024279
|
|
NM_001171613.2(PREPL):c.-48-7T>C
|
|
|
NM_001171613.2(PREPL):c.-48-9T>C
|
|
|
NM_001171613.2(PREPL):c.-49+1673G>A
|
rs757367125
|
|
NM_001171613.2(PREPL):c.-49+1691C>T
|
rs943164834
|
|
NM_001171613.2(PREPL):c.-49+1760C>T
|
rs2104270696
|
|
NM_001171613.2(PREPL):c.-49+1763C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1784A>G
|
rs773880492
|
|
NM_001171613.2(PREPL):c.-49+1791T>C
|
|
|
NM_001171613.2(PREPL):c.-49+1793G>A
|
rs779251130
|
|
NM_001171613.2(PREPL):c.-49+1806C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1891C>A
|
|
|
NM_001171613.2(PREPL):c.-49+1893_-49+1896del
|
rs1572594172
|
|
NM_001171613.2(PREPL):c.1017T>C (p.Phe339=)
|
rs2103838543
|
|
NM_001171613.2(PREPL):c.1029G>A (p.Gly343=)
|
|
|
NM_001171613.2(PREPL):c.102C>T (p.Tyr34=)
|
|
|
NM_001171613.2(PREPL):c.105A>G (p.Gln35=)
|
|
|
NM_001171613.2(PREPL):c.1071A>G (p.Leu357=)
|
|
|
NM_001171613.2(PREPL):c.1077C>G (p.Ala359=)
|
|
|
NM_001171613.2(PREPL):c.1086+11T>A
|
rs747536626
|
|
NM_001171613.2(PREPL):c.1086+18C>A
|
|
|
NM_001171613.2(PREPL):c.1086+19A>G
|
|
|
NM_001171613.2(PREPL):c.1087-20T>C
|
|
|
NM_001171613.2(PREPL):c.1087-22_1087-19del
|
rs781594204
|
|
NM_001171613.2(PREPL):c.1087-4C>G
|
rs1572857344
|
|
NM_001171613.2(PREPL):c.1104A>G (p.Pro368=)
|
|
|
NM_001171613.2(PREPL):c.1113T>G (p.Val371=)
|
|
|
NM_001171613.2(PREPL):c.1134G>A (p.Glu378=)
|
|
|
NM_001171613.2(PREPL):c.1140G>A (p.Leu380=)
|
|
|
NM_001171613.2(PREPL):c.1149A>G (p.Lys383=)
|
|
|
NM_001171613.2(PREPL):c.117C>T (p.Cys39=)
|
|
|
NM_001171613.2(PREPL):c.1224G>C (p.Leu408=)
|
rs2103786137
|
|
NM_001171613.2(PREPL):c.1233T>C (p.Asp411=)
|
|
|
NM_001171613.2(PREPL):c.1262+19C>T
|
|
|
NM_001171613.2(PREPL):c.126T>C (p.Arg42=)
|
|
|
NM_001171613.2(PREPL):c.1293C>T (p.His431=)
|
rs760961704
|
|
NM_001171613.2(PREPL):c.1296T>C (p.Ala432=)
|
|
|
NM_001171613.2(PREPL):c.1302C>T (p.Gly434=)
|
rs376023108
|
|
NM_001171613.2(PREPL):c.1305C>T (p.Arg435=)
|
|
|
NM_001171613.2(PREPL):c.1371C>G (p.Gly457=)
|
rs2103751150
|
|
NM_001171613.2(PREPL):c.1413T>C (p.Ala471=)
|
|
|
NM_001171613.2(PREPL):c.1419G>A (p.Gly473=)
|
|
|
NM_001171613.2(PREPL):c.142+11A>G
|
|
|
NM_001171613.2(PREPL):c.142+12T>G
|
|
|
NM_001171613.2(PREPL):c.142+7C>G
|
|
|
NM_001171613.2(PREPL):c.143-16A>C
|
|
|
NM_001171613.2(PREPL):c.143-19C>A
|
|
|
NM_001171613.2(PREPL):c.1467G>C (p.Ala489=)
|
|
|
NM_001171613.2(PREPL):c.1479+20A>G
|
|
|
NM_001171613.2(PREPL):c.1479+9G>A
|
|
|
NM_001171613.2(PREPL):c.1480-15T>C
|
|
|
NM_001171613.2(PREPL):c.1480-7T>C
|
|
|
NM_001171613.2(PREPL):c.1515C>T (p.Asp505=)
|
|
|
NM_001171613.2(PREPL):c.1527T>G (p.Pro509=)
|
rs2103696019
|
|
NM_001171613.2(PREPL):c.1569T>C (p.Ser523=)
|
rs1181427435
|
|
NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu)
|
rs375292548
|
|
NM_001171613.2(PREPL):c.159T>C (p.Tyr53=)
|
|
|
NM_001171613.2(PREPL):c.1629+11A>T
|
|
|
NM_001171613.2(PREPL):c.1629+13A>G
|
rs772363126
|
|
NM_001171613.2(PREPL):c.1629+9A>G
|
rs1247136692
|
|
NM_001171613.2(PREPL):c.1630-16A>G
|
|
|
NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)
|
|
|
NM_001171613.2(PREPL):c.1672C>A (p.Arg558=)
|
|
|
NM_001171613.2(PREPL):c.1677A>G (p.Val559=)
|
rs913408771
|
|
NM_001171613.2(PREPL):c.1728G>A (p.Ala576=)
|
rs757091047
|
|
NM_001171613.2(PREPL):c.1728G>T (p.Ala576=)
|
rs757091047
|
|
NM_001171613.2(PREPL):c.1753+8A>T
|
rs1553350931
|
|
NM_001171613.2(PREPL):c.1754-7C>T
|
|
|
NM_001171613.2(PREPL):c.175T>C (p.Leu59=)
|
|
|
NM_001171613.2(PREPL):c.1803T>C (p.His601=)
|
|
|
NM_001171613.2(PREPL):c.1827+10C>G
|
rs1295732711
|
|
NM_001171613.2(PREPL):c.1827+11A>T
|
|
|
NM_001171613.2(PREPL):c.1827+16C>T
|
|
|
NM_001171613.2(PREPL):c.1827+8A>T
|
|
|
NM_001171613.2(PREPL):c.1828-13G>A
|
|
|
NM_001171613.2(PREPL):c.1828-14T>C
|
|
|
NM_001171613.2(PREPL):c.1828-7C>A
|
rs781459763
|
|
NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)
|
|
|
NM_001171613.2(PREPL):c.1848C>T (p.Phe616=)
|
rs776568419
|
|
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=)
|
rs771707341
|
|
NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)
|
|
|
NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)
|
|
|
NM_001171613.2(PREPL):c.198G>A (p.Gln66=)
|
rs778184072
|
|
NM_001171613.2(PREPL):c.216C>T (p.Ile72=)
|
|
|
NM_001171613.2(PREPL):c.249C>T (p.Ala83=)
|
|
|
NM_001171613.2(PREPL):c.270T>C (p.Ser90=)
|
|
|
NM_001171613.2(PREPL):c.27A>G (p.Thr9=)
|
|
|
NM_001171613.2(PREPL):c.282C>T (p.Thr94=)
|
|
|
NM_001171613.2(PREPL):c.300C>T (p.Leu100=)
|
|
|
NM_001171613.2(PREPL):c.312C>T (p.Pro104=)
|
rs11542603
|
|
NM_001171613.2(PREPL):c.333G>A (p.Pro111=)
|
rs111330295
|
|
NM_001171613.2(PREPL):c.336T>C (p.Asn112=)
|
rs772575204
|
|
NM_001171613.2(PREPL):c.342C>T (p.Ser114=)
|
|
|
NM_001171613.2(PREPL):c.349+16A>G
|
rs1675475052
|
|
NM_001171613.2(PREPL):c.350-10_350-8del
|
rs751258871
|
|
NM_001171613.2(PREPL):c.350-13T>G
|
|
|
NM_001171613.2(PREPL):c.350-16C>G
|
|
|
NM_001171613.2(PREPL):c.350-19T>C
|
|
|
NM_001171613.2(PREPL):c.360G>A (p.Lys120=)
|
rs2103969592
|
|
NM_001171613.2(PREPL):c.390C>T (p.Tyr130=)
|
rs2103969128
|
|
NM_001171613.2(PREPL):c.396C>T (p.Phe132=)
|
rs1192368554
|
|
NM_001171613.2(PREPL):c.432C>T (p.Ala144=)
|
|
|
NM_001171613.2(PREPL):c.465T>C (p.Phe155=)
|
|
|
NM_001171613.2(PREPL):c.485+10T>A
|
|
|
NM_001171613.2(PREPL):c.485+8A>G
|
rs2103967683
|
|
NM_001171613.2(PREPL):c.485+9A>G
|
|
|
NM_001171613.2(PREPL):c.486-10C>T
|
|
|
NM_001171613.2(PREPL):c.486-18CT[6]
|
rs750292662
|
|
NM_001171613.2(PREPL):c.486-18CT[9]
|
rs750292662
|
|
NM_001171613.2(PREPL):c.486-19T>A
|
|
|
NM_001171613.2(PREPL):c.486-4C>G
|
rs1217024448
|
|
NM_001171613.2(PREPL):c.498C>T (p.Phe166=)
|
rs1230569140
|
|
NM_001171613.2(PREPL):c.525C>T (p.Phe175=)
|
|
|
NM_001171613.2(PREPL):c.540T>C (p.Ile180=)
|
|
|
NM_001171613.2(PREPL):c.549G>A (p.Lys183=)
|
rs2103926652
|
|
NM_001171613.2(PREPL):c.564G>A (p.Val188=)
|
rs1293632946
|
|
NM_001171613.2(PREPL):c.579C>T (p.Gly193=)
|
|
|
NM_001171613.2(PREPL):c.672C>T (p.Leu224=)
|
|
|
NM_001171613.2(PREPL):c.702+10G>A
|
|
|
NM_001171613.2(PREPL):c.702+16C>T
|
|
|
NM_001171613.2(PREPL):c.702+17G>T
|
|
|
NM_001171613.2(PREPL):c.702+19T>A
|
|
|
NM_001171613.2(PREPL):c.702+20G>T
|
|
|
NM_001171613.2(PREPL):c.702+7C>T
|
rs1674951448
|
|
NM_001171613.2(PREPL):c.703-20T>G
|
rs1028855087
|
|
NM_001171613.2(PREPL):c.703-6A>G
|
|
|
NM_001171613.2(PREPL):c.703-7C>G
|
rs1674874642
|
|
NM_001171613.2(PREPL):c.705A>C (p.Leu235=)
|
|
|
NM_001171613.2(PREPL):c.705A>G (p.Leu235=)
|
|
|
NM_001171613.2(PREPL):c.709A>C (p.Arg237=)
|
|
|
NM_001171613.2(PREPL):c.75+10C>T
|
|
|
NM_001171613.2(PREPL):c.75+9T>C
|
|
|
NM_001171613.2(PREPL):c.759A>G (p.Thr253=)
|
rs1424550193
|
|
NM_001171613.2(PREPL):c.76-10C>T
|
rs1470050624
|
|
NM_001171613.2(PREPL):c.76-14G>A
|
|
|
NM_001171613.2(PREPL):c.76-17C>T
|
|
|
NM_001171613.2(PREPL):c.765G>A (p.Lys255=)
|
|
|
NM_001171613.2(PREPL):c.774A>C (p.Thr258=)
|
|
|
NM_001171613.2(PREPL):c.780G>C (p.Val260=)
|
|
|
NM_001171613.2(PREPL):c.792C>T (p.Asp264=)
|
rs1572881157
|
|
NM_001171613.2(PREPL):c.816A>G (p.Leu272=)
|
|
|
NM_001171613.2(PREPL):c.825G>A (p.Lys275=)
|
|
|
NM_001171613.2(PREPL):c.828C>T (p.His276=)
|
|
|
NM_001171613.2(PREPL):c.867T>C (p.Asp289=)
|
|
|
NM_001171613.2(PREPL):c.888+10A>T
|
|
|
NM_001171613.2(PREPL):c.888+12T>G
|
|
|
NM_001171613.2(PREPL):c.888+13T>C
|
|
|
NM_001171613.2(PREPL):c.888+8T>C
|
|
|
NM_001171613.2(PREPL):c.889-17C>G
|
|
|
NM_001171613.2(PREPL):c.889-17_889-15del
|
|
|
NM_001171613.2(PREPL):c.889-20T>C
|
|
|
NM_001171613.2(PREPL):c.912C>T (p.Phe304=)
|
rs2103839981
|
|
NM_001171613.2(PREPL):c.984T>C (p.Tyr328=)
|
|
|
NM_001171613.2(PREPL):c.993C>T (p.Tyr331=)
|
|
|
NM_001244710.2(GFPT1):c.1009+17T>A
|
|
|
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=)
|
rs2104631088
|
|
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=)
|
rs1458911769
|
|
NM_001244710.2(GFPT1):c.1105+7A>T
|
|
|
NM_001244710.2(GFPT1):c.1106-9T>C
|
|
|
NM_001244710.2(GFPT1):c.115+15A>G
|
rs1401182899
|
|
NM_001244710.2(GFPT1):c.115+17A>G
|
|
|
NM_001244710.2(GFPT1):c.115+20A>G
|
|
|
NM_001244710.2(GFPT1):c.116-12A>G
|
rs540758570
|
|
NM_001244710.2(GFPT1):c.116-19T>C
|
|
|
NM_001244710.2(GFPT1):c.116-6G>C
|
rs762154144
|
|
NM_001244710.2(GFPT1):c.1204-13A>G
|
|
|
NM_001244710.2(GFPT1):c.1204-13_1204-11dup
|
|
|
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=)
|
rs1339146756
|
|
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=)
|
rs1168233879
|
|
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=)
|
rs1574080849
|
|
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)
|
|
|
NM_001244710.2(GFPT1):c.12A>T (p.Ile4=)
|
|
|
NM_001244710.2(GFPT1):c.1320A>G (p.Gln440=)
|
rs1196976693
|
|
NM_001244710.2(GFPT1):c.1324+10_1324+15del
|
rs777934882
|
|
NM_001244710.2(GFPT1):c.1324+9A>C
|
|
|
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=)
|
rs2104616321
|
|
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=)
|
rs968995023
|
|
NM_001244710.2(GFPT1):c.1455T>G (p.Gly485=)
|
|
|
NM_001244710.2(GFPT1):c.1483-10G>A
|
|
|
NM_001244710.2(GFPT1):c.1483-18T>C
|
|
|
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=)
|
rs767370476
|
|
NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=)
|
|
|
NM_001244710.2(GFPT1):c.1597+15dup
|
rs2104600661
|
|
NM_001244710.2(GFPT1):c.1598-16T>A
|
|
|
NM_001244710.2(GFPT1):c.1598-5C>A
|
|
|
NM_001244710.2(GFPT1):c.1598-8C>T
|
|
|
NM_001244710.2(GFPT1):c.1611A>G (p.Glu537=)
|
|
|
NM_001244710.2(GFPT1):c.1644A>G (p.Leu548=)
|
rs2104600073
|
|
NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=)
|
|
|
NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=)
|
|
|
NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=)
|
rs2104599962
|
|
NM_001244710.2(GFPT1):c.1725+14G>C
|
|
|
NM_001244710.2(GFPT1):c.1726-16G>C
|
|
|
NM_001244710.2(GFPT1):c.1726-5A>G
|
|
|
NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=)
|
|
|
NM_001244710.2(GFPT1):c.1791T>C (p.Pro597=)
|
|
|
NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=)
|
|
|
NM_001244710.2(GFPT1):c.1869T>C (p.Ala623=)
|
|
|
NM_001244710.2(GFPT1):c.1869T>G (p.Ala623=)
|
|
|
NM_001244710.2(GFPT1):c.1894-9C>G
|
|
|
NM_001244710.2(GFPT1):c.1905G>A (p.Val635=)
|
rs1558725033
|
|
NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=)
|
|
|
NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=)
|
|
|
NM_001244710.2(GFPT1):c.1984T>C (p.Leu662=)
|
rs1370889713
|
|
NM_001244710.2(GFPT1):c.2016G>A (p.Gln672=)
|
|
|
NM_001244710.2(GFPT1):c.2031C>T (p.His677=)
|
rs2104595358
|
|
NM_001244710.2(GFPT1):c.2056-10_2056-9del
|
rs778019023
|
|
NM_001244710.2(GFPT1):c.2056-4G>T
|
|
|
NM_001244710.2(GFPT1):c.2056-9T>G
|
|
|
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)
|
|
|
NM_001244710.2(GFPT1):c.224-11A>G
|
|
|
NM_001244710.2(GFPT1):c.224-18T>G
|
|
|
NM_001244710.2(GFPT1):c.224-20T>C
|
|
|
NM_001244710.2(GFPT1):c.228A>G (p.Gln76=)
|
|
|
NM_001244710.2(GFPT1):c.33T>C (p.His11=)
|
|
|
NM_001244710.2(GFPT1):c.350-4_350-3del
|
|
|
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)
|
|
|
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=)
|
rs761321362
|
|
NM_001244710.2(GFPT1):c.408+11T>C
|
|
|
NM_001244710.2(GFPT1):c.408+12G>C
|
|
|
NM_001244710.2(GFPT1):c.408+12G>T
|
|
|
NM_001244710.2(GFPT1):c.408+14C>T
|
|
|
NM_001244710.2(GFPT1):c.408+9G>A
|
|
|
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=)
|
rs1671392979
|
|
NM_001244710.2(GFPT1):c.468T>G (p.Val156=)
|
|
|
NM_001244710.2(GFPT1):c.544-11T>C
|
|
|
NM_001244710.2(GFPT1):c.544-6C>T
|
|
|
NM_001244710.2(GFPT1):c.597T>C (p.Val199=)
|
rs2104652107
|
|
NM_001244710.2(GFPT1):c.606-19C>T
|
|
|
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=)
|
rs2104648039
|
|
NM_001244710.2(GFPT1):c.669T>C (p.Pro223=)
|
rs903308197
|
|
NM_001244710.2(GFPT1):c.685+18A>G
|
|
|
NM_001244710.2(GFPT1):c.686-12G>A
|
|
|
NM_001244710.2(GFPT1):c.686-15G>A
|
|
|
NM_001244710.2(GFPT1):c.7+11C>T
|
|
|
NM_001244710.2(GFPT1):c.739+19A>G
|
rs1335194019
|
|
NM_001244710.2(GFPT1):c.740-20A>G
|
|
|
NM_001244710.2(GFPT1):c.834T>C (p.Ala278=)
|
|
|
NM_001244710.2(GFPT1):c.845+13A>G
|
|
|
NM_001244710.2(GFPT1):c.845+15T>G
|
|
|
NM_001244710.2(GFPT1):c.846-13G>A
|
|
|
NM_001244710.2(GFPT1):c.846-17C>G
|
|
|
NM_001244710.2(GFPT1):c.876C>T (p.Ile292=)
|
|
|
NM_001244710.2(GFPT1):c.897T>C (p.Val299=)
|
rs2104635977
|
|
NM_001244710.2(GFPT1):c.948A>G (p.Ala316=)
|
|
|
NM_001244710.2(GFPT1):c.957C>T (p.His319=)
|
rs1574060474
|
|
NM_001382.4(DPAGT1):c.1006-6C>T
|
rs2134898608
|
|
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
|
|
|
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
|
|
|
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=)
|
rs1946413563
|
|
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=)
|
rs1442358846
|
|
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=)
|
rs2134897849
|
|
NM_001382.4(DPAGT1):c.1161+15C>T
|
rs775825050
|
|
NM_001382.4(DPAGT1):c.1161+18G>A
|
|
|
NM_001382.4(DPAGT1):c.1161+9G>A
|
rs1946410715
|
|
NM_001382.4(DPAGT1):c.1162-14A>G
|
|
|
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
|
|
|
NM_001382.4(DPAGT1):c.161+13A>G
|
|
|
NM_001382.4(DPAGT1):c.161+16C>T
|
|
|
NM_001382.4(DPAGT1):c.161+9C>T
|
|
|
NM_001382.4(DPAGT1):c.162-12G>A
|
|
|
NM_001382.4(DPAGT1):c.162-12G>C
|
|
|
NM_001382.4(DPAGT1):c.162-15G>A
|
|
|
NM_001382.4(DPAGT1):c.162-16T>C
|
rs2134916538
|
|
NM_001382.4(DPAGT1):c.162-18C>G
|
rs764930301
|
|
NM_001382.4(DPAGT1):c.162-18C>T
|
|
|
NM_001382.4(DPAGT1):c.162-20C>G
|
rs749879111
|
|
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
|
|
|
NM_001382.4(DPAGT1):c.276C>T (p.His92=)
|
rs931405073
|
|
NM_001382.4(DPAGT1):c.282+12C>T
|
|
|
NM_001382.4(DPAGT1):c.282+17G>A
|
rs1236626939
|
|
NM_001382.4(DPAGT1):c.282+20T>C
|
|
|
NM_001382.4(DPAGT1):c.283-13G>A
|
|
|
NM_001382.4(DPAGT1):c.283-5C>T
|
|
|
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
|
|
|
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=)
|
rs200885014
|
|
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
|
|
|
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
|
|
|
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
|
|
|
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
|
|
|
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=)
|
rs1020413992
|
|
NM_001382.4(DPAGT1):c.497-4G>A
|
rs771175893
|
|
NM_001382.4(DPAGT1):c.497-4G>C
|
rs771175893
|
|
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
|
|
|
NM_001382.4(DPAGT1):c.643+17G>C
|
|
|
NM_001382.4(DPAGT1):c.644-12T>G
|
|
|
NM_001382.4(DPAGT1):c.644-18_644-15del
|
rs750678639
|
|
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=)
|
rs2134903738
|
|
NM_001382.4(DPAGT1):c.663T>C (p.His221=)
|
rs755080683
|
|
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
|
|
|
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=)
|
rs1592226752
|
|
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
|
|
|
NM_001382.4(DPAGT1):c.729-16C>G
|
|
|
NM_001382.4(DPAGT1):c.729-16C>T
|
|
|
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=)
|
rs1946429703
|
|
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
|
|
|
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
|
|
|
NM_001382.4(DPAGT1):c.810C>T (p.His270=)
|
rs1946427343
|
|
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=)
|
rs145055477
|
|
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=)
|
rs756625547
|
|
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=)
|
rs1592226120
|
|
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
|
|
|
NM_001382.4(DPAGT1):c.917+7G>A
|
|
|
NM_001382.4(DPAGT1):c.918-15A>G
|
|
|
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)
|
rs2134899492
|
|
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=)
|
rs1946418951
|
|
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
|
|
|
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
|
|
|
NM_002334.4(LRP4):c.1029A>G (p.Glu343=)
|
rs761739869
|
|
NM_002334.4(LRP4):c.1048+13A>G
|
|
|
NM_002334.4(LRP4):c.1049-10G>C
|
rs2134853583
|
|
NM_002334.4(LRP4):c.1049-20C>T
|
|
|
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
|
|
|
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
|
|
|
NM_002334.4(LRP4):c.1146A>G (p.Thr382=)
|
rs2134853133
|
|
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
|
|
|
NM_002334.4(LRP4):c.1184-18C>T
|
|
|
NM_002334.4(LRP4):c.1184-5C>T
|
|
|
NM_002334.4(LRP4):c.1218C>T (p.Ser406=)
|
rs2134851406
|
|
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
|
|
|
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
|
|
|
NM_002334.4(LRP4):c.1306C>T (p.Leu436=)
|
rs368827270
|
|
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
|
|
|
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
|
|
|
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
|
|
|
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
|
|
|
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
|
|
|
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
|
|
|
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
|
|
|
NM_002334.4(LRP4):c.1540+13G>A
|
|
|
NM_002334.4(LRP4):c.1540+17C>A
|
|
|
NM_002334.4(LRP4):c.1540+18A>G
|
|
|
NM_002334.4(LRP4):c.1540+9C>T
|
|
|
NM_002334.4(LRP4):c.1541-16T>C
|
|
|
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
|
|
|
NM_002334.4(LRP4):c.1546C>T (p.Leu516=)
|
rs1592539185
|
|
NM_002334.4(LRP4):c.1584C>A (p.Thr528=)
|
rs574108233
|
|
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
|
|
|
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
|
|
|
NM_002334.4(LRP4):c.1697+19T>C
|
|
|
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
|
|
|
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
|
|
|
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
|
|
|
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
|
|
|
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
|
|
|
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
|
|
|
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
|
|
|
NM_002334.4(LRP4):c.1915+8C>A
|
|
|
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
|
|
|
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
|
|
|
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
|
|
|
NM_002334.4(LRP4):c.199+12C>T
|
|
|
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
|
|
|
NM_002334.4(LRP4):c.200-26TTTTC[2]
|
rs760673637
|
|
NM_002334.4(LRP4):c.200-26TTTTC[4]
|
|
|
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
|
|
|
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
|
|
|
NM_002334.4(LRP4):c.2028C>T (p.Ile676=)
|
rs1941385384
|
|
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
|
|
|
NM_002334.4(LRP4):c.2073C>T (p.His691=)
|
|
|
NM_002334.4(LRP4):c.2092+12C>T
|
|
|
NM_002334.4(LRP4):c.2092+18G>A
|
|
|
NM_002334.4(LRP4):c.2092+20G>C
|
|
|
NM_002334.4(LRP4):c.2093-19C>T
|
rs1181290875
|
|
NM_002334.4(LRP4):c.2130G>A (p.Thr710=)
|
rs199674492
|
|
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
|
|
|
NM_002334.4(LRP4):c.2175C>T (p.Pro725=)
|
rs369705661
|
|
NM_002334.4(LRP4):c.2178T>G (p.Thr726=)
|
rs1941371842
|
|
NM_002334.4(LRP4):c.2216-18C>T
|
|
|
NM_002334.4(LRP4):c.2216-20C>A
|
|
|
NM_002334.4(LRP4):c.225C>T (p.Asp75=)
|
rs1023732809
|
|
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
|
|
|
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
|
|
|
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
|
|
|
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
|
|
|
NM_002334.4(LRP4):c.2425-19A>G
|
rs2134827879
|
|
NM_002334.4(LRP4):c.2425-6G>T
|
rs1592532832
|
|
NM_002334.4(LRP4):c.2442T>C (p.Ser814=)
|
rs2134827694
|
|
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=)
|
rs2134827587
|
|
NM_002334.4(LRP4):c.2506+8T>C
|
|
|
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
|
|
|
NM_002334.4(LRP4):c.2612+12C>T
|
|
|
NM_002334.4(LRP4):c.2612+15C>T
|
rs926960884
|
|
NM_002334.4(LRP4):c.2613-11C>A
|
|
|
NM_002334.4(LRP4):c.2613-11_2613-7dup
|
|
|
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
|
|
|
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
|
|
|
NM_002334.4(LRP4):c.2814+10del
|
rs534937304
|
|
NM_002334.4(LRP4):c.2814+17_2814+39del
|
|
|
NM_002334.4(LRP4):c.2814+9G>A
|
|
|
NM_002334.4(LRP4):c.2815-16G>A
|
rs1941096408
|
|
NM_002334.4(LRP4):c.2815-20_2815-17dup
|
|
|
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
|
|
|
NM_002334.4(LRP4):c.2835C>G (p.Leu945=)
|
rs201362411
|
|
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
|
|
|
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
|
|
|
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
|
|
|
NM_002334.4(LRP4):c.2958G>A (p.Leu986=)
|
rs541593593
|
|
NM_002334.4(LRP4):c.2979T>C (p.His993=)
|
|
|
NM_002334.4(LRP4):c.3004+13T>C
|
|
|
NM_002334.4(LRP4):c.3004+14G>C
|
|
|
NM_002334.4(LRP4):c.3004+18C>T
|
rs2306028
|
|
NM_002334.4(LRP4):c.3004+19G>A
|
|
|
NM_002334.4(LRP4):c.3005-12C>T
|
|
|
NM_002334.4(LRP4):c.3005-4C>T
|
|
|
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
|
|
|
NM_002334.4(LRP4):c.3045C>T (p.His1015=)
|
rs2134807034
|
|
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
|
|
|
NM_002334.4(LRP4):c.3136+16A>G
|
|
|
NM_002334.4(LRP4):c.3137-13C>T
|
|
|
NM_002334.4(LRP4):c.3137-15del
|
rs2134802550
|
|
NM_002334.4(LRP4):c.3137-4G>A
|
|
|
NM_002334.4(LRP4):c.3137-4G>C
|
|
|
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=)
|
rs2134802462
|
|
NM_002334.4(LRP4):c.317-12C>G
|
|
|
NM_002334.4(LRP4):c.317-19G>A
|
|
|
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
|
|
|
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
|
|
|
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
|
|
|
NM_002334.4(LRP4):c.3278-8C>T
|
rs1941033938
|
|
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
|
|
|
NM_002334.4(LRP4):c.3364+11C>T
|
|
|
NM_002334.4(LRP4):c.3364+17G>T
|
|
|
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
|
|
|
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=)
|
rs2134800312
|
|
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
|
|
|
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
|
|
|
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA
|
rs2134799662
|
|
NM_002334.4(LRP4):c.3536+18C>T
|
|
|
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
|
|
|
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
|
|
|
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
|
|
|
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
|
|
|
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
|
|
|
NM_002334.4(LRP4):c.3699+13T>C
|
|
|
NM_002334.4(LRP4):c.3699+19C>T
|
|
|
NM_002334.4(LRP4):c.3699+8C>T
|
|
|
NM_002334.4(LRP4):c.3699+9C>A
|
|
|
NM_002334.4(LRP4):c.3699+9C>T
|
|
|
NM_002334.4(LRP4):c.3700-10T>C
|
rs975882066
|
|
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
|
|
|
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=)
|
rs2134797059
|
|
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
|
|
|
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
|
|
|
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
|
|
|
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
|
|
|
NM_002334.4(LRP4):c.3926-17G>A
|
|
|
NM_002334.4(LRP4):c.3926-5A>G
|
|
|
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=)
|
rs2134794190
|
|
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=)
|
rs2134794079
|
|
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
|
|
|
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=)
|
rs371098163
|
|
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=)
|
rs1181126034
|
|
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
|
|
|
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
|
|
|
NM_002334.4(LRP4):c.4229+11C>T
|
|
|
NM_002334.4(LRP4):c.4229+15G>A
|
|
|
NM_002334.4(LRP4):c.4229+20C>G
|
|
|
NM_002334.4(LRP4):c.4230-10T>C
|
rs1940930151
|
|
NM_002334.4(LRP4):c.4230-12G>A
|
|
|
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=)
|
rs1940926502
|
|
NM_002334.4(LRP4):c.431-3del
|
rs562071882
|
|
NM_002334.4(LRP4):c.431-9T>A
|
rs1941620373
|
|
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
|
|
|
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
|
|
|
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
|
|
|
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
|
|
|
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
|
|
|
NM_002334.4(LRP4):c.4584-14_4584-10del
|
rs748959880
|
|
NM_002334.4(LRP4):c.4584-16_4584-15del
|
rs768340393
|
|
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
|
|
|
NM_002334.4(LRP4):c.4693-11C>T
|
rs1409382852
|
|
NM_002334.4(LRP4):c.4693-12C>G
|
|
|
NM_002334.4(LRP4):c.4693-12C>T
|
|
|
NM_002334.4(LRP4):c.4693-16T>C
|
rs2134778241
|
|
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=)
|
rs200270681
|
|
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
|
|
|
NM_002334.4(LRP4):c.4837+8C>G
|
rs1243774066
|
|
NM_002334.4(LRP4):c.4838-8G>A
|
|
|
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=)
|
rs2134776744
|
|
NM_002334.4(LRP4):c.489G>A (p.Glu163=)
|
rs1941618309
|
|
NM_002334.4(LRP4):c.4952-10T>C
|
|
|
NM_002334.4(LRP4):c.4952-17T>C
|
|
|
NM_002334.4(LRP4):c.4952-19A>G
|
rs772798728
|
|
NM_002334.4(LRP4):c.4952-20C>A
|
|
|
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=)
|
rs2134774940
|
|
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
|
|
|
NM_002334.4(LRP4):c.507T>A (p.Gly169=)
|
rs2134863376
|
|
NM_002334.4(LRP4):c.5087+12C>T
|
|
|
NM_002334.4(LRP4):c.5087+13A>G
|
|
|
NM_002334.4(LRP4):c.5087+14A>T
|
rs376251083
|
|
NM_002334.4(LRP4):c.5088-6C>T
|
|
|
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
|
|
|
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
|
|
|
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
|
|
|
NM_002334.4(LRP4):c.5155+16C>T
|
|
|
NM_002334.4(LRP4):c.5155+20C>G
|
|
|
NM_002334.4(LRP4):c.5156-11A>G
|
|
|
NM_002334.4(LRP4):c.5244-6C>T
|
|
|
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
|
|
|
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=)
|
rs2134760244
|
|
NM_002334.4(LRP4):c.53-12C>G
|
|
|
NM_002334.4(LRP4):c.53-15T>C
|
|
|
NM_002334.4(LRP4):c.53-6G>A
|
|
|
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
|
|
|
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
|
|
|
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=)
|
rs750830696
|
|
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
|
|
|
NM_002334.4(LRP4):c.5386-4C>G
|
|
|
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
|
|
|
NM_002334.4(LRP4):c.547+14G>A
|
|
|
NM_002334.4(LRP4):c.547+14G>C
|
rs1243797516
|
|
NM_002334.4(LRP4):c.548-19A>T
|
|
|
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=)
|
rs911721294
|
|
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=)
|
rs2134750971
|
|
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
|
|
|
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
|
|
|
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
|
|
|
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
|
|
|
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
|
|
|
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
|
|
|
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
|
|
|
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
|
|
|
NM_002334.4(LRP4):c.5715C>G (p.Val1905=)
|
rs2134750322
|
|
NM_002334.4(LRP4):c.591G>A (p.Gln197=)
|
rs1199299804
|
|
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
|
|
|
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
|
|
|
NM_002334.4(LRP4):c.677-13T>C
|
|
|
NM_002334.4(LRP4):c.677-6C>T
|
|
|
NM_002334.4(LRP4):c.677-7T>G
|
rs1244833731
|
|
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
|
|
|
NM_002334.4(LRP4):c.69C>T (p.Pro23=)
|
rs370359994
|
|
NM_002334.4(LRP4):c.708C>T (p.Phe236=)
|
rs2134861393
|
|
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
|
|
|
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
|
|
|
NM_002334.4(LRP4):c.774C>T (p.Asp258=)
|
rs2134861192
|
|
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
|
|
|
NM_002334.4(LRP4):c.796+18A>T
|
|
|
NM_002334.4(LRP4):c.796+20T>C
|
|
|
NM_002334.4(LRP4):c.796+7G>A
|
|
|
NM_002334.4(LRP4):c.798C>T (p.Thr266=)
|
rs2134856058
|
|
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
|
|
|
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
|
|
|
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
|
|
|
NM_002334.4(LRP4):c.922+13G>C
|
|
|
NM_002334.4(LRP4):c.923-11C>T
|
|
|
NM_002334.4(LRP4):c.923-14del
|
|
|
NM_002334.4(LRP4):c.923-8C>T
|
|
|
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
|
|
|
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)
|
|
|
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)
|
|
|
NM_005055.5(RAPSN):c.102G>A (p.Glu34=)
|
rs2076432091
|
|
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=)
|
rs778622975
|
|
NM_005055.5(RAPSN):c.1047T>C (p.Val349=)
|
|
|
NM_005055.5(RAPSN):c.1050G>A (p.Val350=)
|
|
|
NM_005055.5(RAPSN):c.1050G>C (p.Val350=)
|
|
|
NM_005055.5(RAPSN):c.1059C>T (p.His353=)
|
rs544722226
|
|
NM_005055.5(RAPSN):c.105G>A (p.Lys35=)
|
rs2153311746
|
|
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)
|
|
|
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)
|
|
|
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)
|
|
|
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=)
|
rs565321918
|
|
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=)
|
rs763018407
|
|
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)
|
|
|
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=)
|
rs2153306751
|
|
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=)
|
rs1194287140
|
|
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=)
|
rs2076335581
|
|
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)
|
|
|
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)
|
|
|
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)
|
|
|
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=)
|
rs765481657
|
|
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)
|
|
|
NM_005055.5(RAPSN):c.1166+10C>G
|
|
|
NM_005055.5(RAPSN):c.1166+10C>T
|
|
|
NM_005055.5(RAPSN):c.1166+13G>A
|
|
|
NM_005055.5(RAPSN):c.1166+13G>T
|
|
|
NM_005055.5(RAPSN):c.1166+14G>A
|
|
|
NM_005055.5(RAPSN):c.1166+14G>C
|
|
|
NM_005055.5(RAPSN):c.1166+15G>A
|
rs556595562
|
|
NM_005055.5(RAPSN):c.1166+15G>C
|
rs556595562
|
|
NM_005055.5(RAPSN):c.1166+15G>T
|
|
|
NM_005055.5(RAPSN):c.1166+16G>T
|
|
|
NM_005055.5(RAPSN):c.1166+17G>A
|
|
|
NM_005055.5(RAPSN):c.1166+18G>C
|
|
|
NM_005055.5(RAPSN):c.1166+19G>A
|
|
|
NM_005055.5(RAPSN):c.1166+7G>A
|
|
|
NM_005055.5(RAPSN):c.1166+7G>T
|
rs1395269562
|
|
NM_005055.5(RAPSN):c.1167-12T>C
|
|
|
NM_005055.5(RAPSN):c.1167-20A>G
|
|
|
NM_005055.5(RAPSN):c.1167-8C>T
|
|
|
NM_005055.5(RAPSN):c.1167-9C>T
|
|
|
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=)
|
rs2153306281
|
|
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)
|
|
|
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)
|
|
|
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)
|
|
|
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)
|
|
|
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)
|
|
|
NM_005055.5(RAPSN):c.123G>A (p.Gly41=)
|
|
|
NM_005055.5(RAPSN):c.156C>A (p.Ala52=)
|
|
|
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)
|
|
|
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)
|
|
|
NM_005055.5(RAPSN):c.174C>A (p.Arg58=)
|
rs2153311690
|
|
NM_005055.5(RAPSN):c.180G>A (p.Lys60=)
|
|
|
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)
|
|
|
NM_005055.5(RAPSN):c.189G>A (p.Leu63=)
|
|
|
NM_005055.5(RAPSN):c.192+10C>A
|
rs1202888760
|
|
NM_005055.5(RAPSN):c.192+10C>T
|
rs1202888760
|
|
NM_005055.5(RAPSN):c.192+11C>T
|
|
|
NM_005055.5(RAPSN):c.192+12del
|
|
|
NM_005055.5(RAPSN):c.192+13G>A
|
|
|
NM_005055.5(RAPSN):c.192+17T>C
|
|
|
NM_005055.5(RAPSN):c.192+7G>A
|
|
|
NM_005055.5(RAPSN):c.192+8T>C
|
rs759724477
|
|
NM_005055.5(RAPSN):c.192+9dup
|
rs2153311675
|
|
NM_005055.5(RAPSN):c.193-10C>T
|
rs2153311437
|
|
NM_005055.5(RAPSN):c.193-11G>A
|
|
|
NM_005055.5(RAPSN):c.193-12C>T
|
|
|
NM_005055.5(RAPSN):c.193-16C>A
|
|
|
NM_005055.5(RAPSN):c.193-16C>T
|
|
|
NM_005055.5(RAPSN):c.193-17A>C
|
|
|
NM_005055.5(RAPSN):c.193-18C>T
|
|
|
NM_005055.5(RAPSN):c.193-4G>A
|
|
|
NM_005055.5(RAPSN):c.193-8G>T
|
|
|
NM_005055.5(RAPSN):c.198T>G (p.Ala66=)
|
rs1131389
|
|
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)
|
|
|
NM_005055.5(RAPSN):c.226C>T (p.Leu76=)
|
|
|
NM_005055.5(RAPSN):c.228G>A (p.Leu76=)
|
rs2153311384
|
|
NM_005055.5(RAPSN):c.246C>G (p.Leu82=)
|
rs780420252
|
|
NM_005055.5(RAPSN):c.249G>A (p.Leu83=)
|
|
|
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)
|
|
|
NM_005055.5(RAPSN):c.259C>T (p.Leu87=)
|
|
|
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)
|
|
|
NM_005055.5(RAPSN):c.273C>G (p.Arg91=)
|
|
|
NM_005055.5(RAPSN):c.279C>T (p.Asn93=)
|
rs901210204
|
|
NM_005055.5(RAPSN):c.27G>A (p.Gln9=)
|
rs1452323802
|
|
NM_005055.5(RAPSN):c.282G>A (p.Glu94=)
|
rs2153311324
|
|
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)
|
|
|
NM_005055.5(RAPSN):c.294G>A (p.Glu98=)
|
rs1331228474
|
|
NM_005055.5(RAPSN):c.30C>A (p.Ile10=)
|
rs768838402
|
|
NM_005055.5(RAPSN):c.327C>T (p.Cys109=)
|
rs769245608
|
|
NM_005055.5(RAPSN):c.333G>T (p.Gly111=)
|
rs2153311277
|
|
NM_005055.5(RAPSN):c.336G>A (p.Leu112=)
|
|
|
NM_005055.5(RAPSN):c.336G>T (p.Leu112=)
|
rs747080013
|
|
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)
|
|
|
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)
|
|
|
NM_005055.5(RAPSN):c.354T>G (p.Gly118=)
|
|
|
NM_005055.5(RAPSN):c.357C>T (p.Ala119=)
|
rs1595902752
|
|
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)
|
|
|
NM_005055.5(RAPSN):c.363C>G (p.Leu121=)
|
rs190548363
|
|
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)
|
|
|
NM_005055.5(RAPSN):c.375C>T (p.Val125=)
|
|
|
NM_005055.5(RAPSN):c.379C>T (p.Leu127=)
|
|
|
NM_005055.5(RAPSN):c.39G>T (p.Gly13=)
|
rs770689515
|
|
NM_005055.5(RAPSN):c.411C>T (p.Ser137=)
|
|
|
NM_005055.5(RAPSN):c.423G>A (p.Lys141=)
|
rs2153311227
|
|
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)
|
|
|
NM_005055.5(RAPSN):c.447C>T (p.Ala149=)
|
rs2153311191
|
|
NM_005055.5(RAPSN):c.450G>A (p.Leu150=)
|
|
|
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)
|
rs1595902592
|
|
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)
|
rs142635726
|
|
NM_005055.5(RAPSN):c.459C>T (p.Ala153=)
|
rs780030892
|
|
NM_005055.5(RAPSN):c.471T>C (p.Asp157=)
|
|
|
NM_005055.5(RAPSN):c.489C>T (p.Cys163=)
|
rs1202436612
|
|
NM_005055.5(RAPSN):c.48G>A (p.Leu16=)
|
rs2076432806
|
|
NM_005055.5(RAPSN):c.492C>A (p.Arg164=)
|
rs146237774
|
|
NM_005055.5(RAPSN):c.495G>A (p.Val165=)
|
|
|
NM_005055.5(RAPSN):c.495G>C (p.Val165=)
|
|
|
NM_005055.5(RAPSN):c.504C>T (p.Ser168=)
|
rs2153311137
|
|
NM_005055.5(RAPSN):c.510C>G (p.Gly170=)
|
rs1335659789
|
|
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)
|
|
|
NM_005055.5(RAPSN):c.522C>T (p.Ala174=)
|
|
|
NM_005055.5(RAPSN):c.531+15C>G
|
|
|
NM_005055.5(RAPSN):c.531+17G>A
|
|
|
NM_005055.5(RAPSN):c.531+17G>C
|
|
|
NM_005055.5(RAPSN):c.531+18G>A
|
|
|
NM_005055.5(RAPSN):c.531+19G>C
|
|
|
NM_005055.5(RAPSN):c.531+20G>A
|
|
|
NM_005055.5(RAPSN):c.531+7C>G
|
|
|
NM_005055.5(RAPSN):c.531+8T>G
|
rs2153311112
|
|
NM_005055.5(RAPSN):c.532-17T>C
|
|
|
NM_005055.5(RAPSN):c.532-19C>T
|
|
|
NM_005055.5(RAPSN):c.532-4G>A
|
rs553983766
|
|
NM_005055.5(RAPSN):c.532-5T>C
|
rs1296891027
|
|
NM_005055.5(RAPSN):c.532-8C>T
|
|
|
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=)
|
rs1015604630
|
|
NM_005055.5(RAPSN):c.549G>C (p.Leu183=)
|
rs1595899529
|
|
NM_005055.5(RAPSN):c.54G>A (p.Gln18=)
|
rs2153311774
|
|
NM_005055.5(RAPSN):c.558C>G (p.Pro186=)
|
|
|
NM_005055.5(RAPSN):c.570A>G (p.Ala190=)
|
rs1437018541
|
|
NM_005055.5(RAPSN):c.570A>T (p.Ala190=)
|
|
|
NM_005055.5(RAPSN):c.573G>A (p.Glu191=)
|
|
|
NM_005055.5(RAPSN):c.609G>A (p.Lys203=)
|
rs2153309106
|
|
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)
|
|
|
NM_005055.5(RAPSN):c.639C>T (p.Ala213=)
|
|
|
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)
|
|
|
NM_005055.5(RAPSN):c.664C>T (p.Leu222=)
|
|
|
NM_005055.5(RAPSN):c.669C>T (p.Gly223=)
|
rs1168766907
|
|
NM_005055.5(RAPSN):c.66A>C (p.Thr22=)
|
|
|
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)
|
|
|
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)
|
|
|
NM_005055.5(RAPSN):c.690+10C>G
|
rs78293924
|
|
NM_005055.5(RAPSN):c.690+11G>A
|
|
|
NM_005055.5(RAPSN):c.690+14G>A
|
|
|
NM_005055.5(RAPSN):c.690+18G>A
|
|
|
NM_005055.5(RAPSN):c.691-10del
|
|
|
NM_005055.5(RAPSN):c.691-11C>T
|
|
|
NM_005055.5(RAPSN):c.691-16C>G
|
|
|
NM_005055.5(RAPSN):c.691-20G>A
|
|
|
NM_005055.5(RAPSN):c.691-4G>A
|
|
|
NM_005055.5(RAPSN):c.691-4G>T
|
rs886048388
|
|
NM_005055.5(RAPSN):c.691-7C>A
|
rs2153308712
|
|
NM_005055.5(RAPSN):c.691-7del
|
|
|
NM_005055.5(RAPSN):c.709C>T (p.Leu237=)
|
|
|
NM_005055.5(RAPSN):c.714G>A (p.Gln238=)
|
rs2153308678
|
|
NM_005055.5(RAPSN):c.735G>A (p.Gln245=)
|
|
|
NM_005055.5(RAPSN):c.738G>T (p.Ala246=)
|
rs889862832
|
|
NM_005055.5(RAPSN):c.744C>T (p.Cys248=)
|
rs780224551
|
|
NM_005055.5(RAPSN):c.745C>T (p.Leu249=)
|
|
|
NM_005055.5(RAPSN):c.747G>C (p.Leu249=)
|
rs1398686820
|
|
NM_005055.5(RAPSN):c.750C>T (p.Leu250=)
|
rs2153308626
|
|
NM_005055.5(RAPSN):c.75A>G (p.Ala25=)
|
|
|
NM_005055.5(RAPSN):c.765C>A (p.Ile255=)
|
rs1432435738
|
|
NM_005055.5(RAPSN):c.768C>T (p.His256=)
|
rs757302008
|
|
NM_005055.5(RAPSN):c.76T>C (p.Leu26=)
|
rs202091676
|
|
NM_005055.5(RAPSN):c.774C>T (p.Ser258=)
|
rs2153308610
|
|
NM_005055.5(RAPSN):c.783C>T (p.Asp261=)
|
rs2076367030
|
|
NM_005055.5(RAPSN):c.784C>T (p.Leu262=)
|
|
|
NM_005055.5(RAPSN):c.789+11C>G
|
|
|
NM_005055.5(RAPSN):c.789+11C>T
|
|
|
NM_005055.5(RAPSN):c.789+12G>A
|
|
|
NM_005055.5(RAPSN):c.789+17G>T
|
|
|
NM_005055.5(RAPSN):c.789+8C>G
|
|
|
NM_005055.5(RAPSN):c.789_789+15dup
|
rs780882080
|
|
NM_005055.5(RAPSN):c.78G>A (p.Leu26=)
|
rs750811979
|
|
NM_005055.5(RAPSN):c.790-12C>G
|
|
|
NM_005055.5(RAPSN):c.790-13C>T
|
|
|
NM_005055.5(RAPSN):c.790-15C>A
|
|
|
NM_005055.5(RAPSN):c.790-15C>G
|
rs752816353
|
|
NM_005055.5(RAPSN):c.790-15C>T
|
|
|
NM_005055.5(RAPSN):c.790-17C>G
|
|
|
NM_005055.5(RAPSN):c.790-17C>T
|
|
|
NM_005055.5(RAPSN):c.790-19C>A
|
|
|
NM_005055.5(RAPSN):c.790-6C>T
|
rs2076365864
|
|
NM_005055.5(RAPSN):c.790-9G>C
|
|
|
NM_005055.5(RAPSN):c.798C>T (p.Phe266=)
|
rs1487536762
|
|
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=)
|
rs104894301
|
|
NM_005055.5(RAPSN):c.822C>T (p.Ser274=)
|
|
|
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)
|
|
|
NM_005055.5(RAPSN):c.831C>A (p.Thr277=)
|
rs148078235
|
|
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)
|
|
|
NM_005055.5(RAPSN):c.837C>T (p.Ile279=)
|
rs755310896
|
|
NM_005055.5(RAPSN):c.846C>T (p.Arg282=)
|
rs1595898465
|
|
NM_005055.5(RAPSN):c.847C>T (p.Leu283=)
|
rs761730497
|
|
NM_005055.5(RAPSN):c.864G>T (p.Ala288=)
|
|
|
NM_005055.5(RAPSN):c.865C>T (p.Leu289=)
|
rs2153308454
|
|
NM_005055.5(RAPSN):c.867G>A (p.Leu289=)
|
|
|
NM_005055.5(RAPSN):c.868C>T (p.Leu290=)
|
|
|
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)
|
|
|
NM_005055.5(RAPSN):c.897G>A (p.Arg299=)
|
|
|
NM_005055.5(RAPSN):c.903G>T (p.Ala301=)
|
|
|
NM_005055.5(RAPSN):c.912+11G>A
|
|
|
NM_005055.5(RAPSN):c.912+15T>C
|
|
|
NM_005055.5(RAPSN):c.912+18C>T
|
|
|
NM_005055.5(RAPSN):c.912+9G>A
|
rs751790521
|
|
NM_005055.5(RAPSN):c.912+9G>C
|
|
|
NM_005055.5(RAPSN):c.912+9G>T
|
rs751790521
|
|
NM_005055.5(RAPSN):c.913-4C>T
|
|
|
NM_005055.5(RAPSN):c.913-7del
|
|
|
NM_005055.5(RAPSN):c.913-8C>A
|
rs2153308235
|
|
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)
|
|
|
NM_005055.5(RAPSN):c.916C>T (p.Leu306=)
|
rs1262478144
|
|
NM_005055.5(RAPSN):c.924C>T (p.Ala308=)
|
|
|
NM_005055.5(RAPSN):c.948C>A (p.Ala316=)
|
rs374676714
|
|
NM_005055.5(RAPSN):c.966+14C>G
|
|
|
NM_005055.5(RAPSN):c.966+19T>C
|
|
|
NM_005055.5(RAPSN):c.966+7C>G
|
rs1595898047
|
|
NM_005055.5(RAPSN):c.966+7C>T
|
|
|
NM_005055.5(RAPSN):c.967-19C>G
|
|
|
NM_005055.5(RAPSN):c.967-20T>C
|
|
|
NM_005055.5(RAPSN):c.967-4C>G
|
|
|
NM_005055.5(RAPSN):c.967-5C>A
|
|
|
NM_005055.5(RAPSN):c.967-5C>T
|
rs374686678
|
|
NM_005055.5(RAPSN):c.967-6C>A
|
|
|
NM_005055.5(RAPSN):c.967-7G>A
|
|
|
NM_005055.5(RAPSN):c.967-7G>C
|
rs1374385127
|
|
NM_005055.5(RAPSN):c.967-7G>T
|
rs1374385127
|
|
NM_005055.5(RAPSN):c.967-9G>C
|
|
|
NM_005055.5(RAPSN):c.96G>T (p.Val32=)
|
rs2076432156
|
|
NM_005055.5(RAPSN):c.972C>T (p.Ser324=)
|
rs2076338821
|
|
NM_005055.5(RAPSN):c.975G>A (p.Gln325=)
|
rs528431446
|
|
NM_005055.5(RAPSN):c.984G>A (p.Leu328=)
|
|
|
NM_005055.5(RAPSN):c.984G>T (p.Leu328=)
|
rs1469910398
|
|
NM_005055.5(RAPSN):c.991C>T (p.Leu331=)
|
rs1595896703
|
|
NM_005055.5(RAPSN):c.993G>T (p.Leu331=)
|
rs867698000
|
|
NM_005055.5(RAPSN):c.996C>T (p.Ser332=)
|
|
|
NM_005055.5(RAPSN):c.999G>A (p.Glu333=)
|
|
|
NM_005055.5(RAPSN):c.99G>A (p.Leu33=)
|
rs2153311752
|
|
NM_005592.4(MUSK):c.1005T>A (p.Val335=)
|
|
|
NM_005592.4(MUSK):c.1044A>G (p.Gln348=)
|
|
|
NM_005592.4(MUSK):c.1056C>T (p.Val352=)
|
|
|
NM_005592.4(MUSK):c.1065C>G (p.Ala355=)
|
|
|
NM_005592.4(MUSK):c.108A>G (p.Thr36=)
|
|
|
NM_005592.4(MUSK):c.1098C>T (p.Cys366=)
|
|
|
NM_005592.4(MUSK):c.1131C>T (p.His377=)
|
|
|
NM_005592.4(MUSK):c.117C>T (p.Ala39=)
|
|
|
NM_005592.4(MUSK):c.1184+10C>G
|
rs2131956685
|
|
NM_005592.4(MUSK):c.1184+15A>C
|
|
|
NM_005592.4(MUSK):c.1184+20T>C
|
|
|
NM_005592.4(MUSK):c.1185-12A>G
|
|
|
NM_005592.4(MUSK):c.1185-14del
|
|
|
NM_005592.4(MUSK):c.1185-15C>T
|
|
|
NM_005592.4(MUSK):c.1185-17T>A
|
|
|
NM_005592.4(MUSK):c.1185-19T>A
|
|
|
NM_005592.4(MUSK):c.1185-19T>C
|
|
|
NM_005592.4(MUSK):c.1185-7A>G
|
|
|
NM_005592.4(MUSK):c.1185-8T>G
|
rs371124725
|
|
NM_005592.4(MUSK):c.1185-9C>T
|
|
|
NM_005592.4(MUSK):c.1197G>A (p.Leu399=)
|
|
|
NM_005592.4(MUSK):c.1203A>G (p.Val401=)
|
rs1356218784
|
|
NM_005592.4(MUSK):c.1212C>A (p.Leu404=)
|
|
|
NM_005592.4(MUSK):c.1218C>T (p.Cys406=)
|
rs368395413
|
|
NM_005592.4(MUSK):c.1224A>G (p.Lys408=)
|
rs1588025437
|
|
NM_005592.4(MUSK):c.1233G>A (p.Leu411=)
|
|
|
NM_005592.4(MUSK):c.1266C>T (p.Tyr422=)
|
|
|
NM_005592.4(MUSK):c.1287G>C (p.Leu429=)
|
|
|
NM_005592.4(MUSK):c.12C>A (p.Leu4=)
|
rs374456998
|
|
NM_005592.4(MUSK):c.12C>G (p.Leu4=)
|
|
|
NM_005592.4(MUSK):c.12C>T (p.Leu4=)
|
rs374456998
|
|
NM_005592.4(MUSK):c.132G>A (p.Val44=)
|
|
|
NM_005592.4(MUSK):c.1360+11G>C
|
|
|
NM_005592.4(MUSK):c.1360+13T>C
|
|
|
NM_005592.4(MUSK):c.1360+14C>T
|
|
|
NM_005592.4(MUSK):c.1360+18C>T
|
|
|
NM_005592.4(MUSK):c.1360+20A>G
|
|
|
NM_005592.4(MUSK):c.1360+7C>G
|
|
|
NM_005592.4(MUSK):c.1360+7_1360+8del
|
rs780843719
|
|
NM_005592.4(MUSK):c.1361-13C>A
|
|
|
NM_005592.4(MUSK):c.1361-7C>T
|
|
|
NM_005592.4(MUSK):c.1377C>T (p.Asn459=)
|
|
|
NM_005592.4(MUSK):c.1384+12T>C
|
|
|
NM_005592.4(MUSK):c.1384+14T>C
|
|
|
NM_005592.4(MUSK):c.1384+20C>G
|
|
|
NM_005592.4(MUSK):c.1384+9T>C
|
|
|
NM_005592.4(MUSK):c.1385-12C>A
|
|
|
NM_005592.4(MUSK):c.1386A>G (p.Thr462=)
|
|
|
NM_005592.4(MUSK):c.1401G>A (p.Thr467=)
|
|
|
NM_005592.4(MUSK):c.1401G>T (p.Thr467=)
|
rs761610023
|
|
NM_005592.4(MUSK):c.1416T>C (p.Ser472=)
|
|
|
NM_005592.4(MUSK):c.141C>T (p.Phe47=)
|
|
|
NM_005592.4(MUSK):c.1434G>A (p.Leu478=)
|
|
|
NM_005592.4(MUSK):c.1446C>G (p.Ser482=)
|
rs754903785
|
|
NM_005592.4(MUSK):c.1452T>C (p.Ser484=)
|
rs1588037471
|
|
NM_005592.4(MUSK):c.1455C>T (p.Ser485=)
|
|
|
NM_005592.4(MUSK):c.1461T>C (p.Ser487=)
|
|
|
NM_005592.4(MUSK):c.1473A>G (p.Thr491=)
|
|
|
NM_005592.4(MUSK):c.147T>C (p.Cys49=)
|
|
|
NM_005592.4(MUSK):c.1545C>T (p.Leu515=)
|
rs868435163
|
|
NM_005592.4(MUSK):c.1586+12G>A
|
|
|
NM_005592.4(MUSK):c.1586+15dup
|
|
|
NM_005592.4(MUSK):c.1586+16C>T
|
|
|
NM_005592.4(MUSK):c.1586+7T>C
|
|
|
NM_005592.4(MUSK):c.1586+8T>C
|
|
|
NM_005592.4(MUSK):c.1587-14T>C
|
|
|
NM_005592.4(MUSK):c.1587-16C>T
|
|
|
NM_005592.4(MUSK):c.1587-5T>G
|
|
|
NM_005592.4(MUSK):c.1587-8G>C
|
rs980952719
|
|
NM_005592.4(MUSK):c.1599A>G (p.Ala533=)
|
|
|
NM_005592.4(MUSK):c.1605C>A (p.Thr535=)
|
|
|
NM_005592.4(MUSK):c.1605C>T (p.Thr535=)
|
rs760645831
|
|
NM_005592.4(MUSK):c.1611C>T (p.Thr537=)
|
|
|
NM_005592.4(MUSK):c.1615C>T (p.Leu539=)
|
|
|
NM_005592.4(MUSK):c.1623T>C (p.Ser541=)
|
|
|
NM_005592.4(MUSK):c.162C>T (p.Tyr54=)
|
|
|
NM_005592.4(MUSK):c.1638T>C (p.Asp546=)
|
|
|
NM_005592.4(MUSK):c.165C>T (p.Pro55=)
|
rs766600402
|
|
NM_005592.4(MUSK):c.1689C>T (p.Pro563=)
|
rs376052538
|
|
NM_005592.4(MUSK):c.1693T>C (p.Leu565=)
|
rs200787064
|
|
NM_005592.4(MUSK):c.1698C>G (p.Leu566=)
|
|
|
NM_005592.4(MUSK):c.1704G>T (p.Leu568=)
|
rs2077843780
|
|
NM_005592.4(MUSK):c.1707G>A (p.Glu569=)
|
|
|
NM_005592.4(MUSK):c.1722C>T (p.Asn574=)
|
|
|
NM_005592.4(MUSK):c.1734G>A (p.Val578=)
|
|
|
NM_005592.4(MUSK):c.1743C>T (p.Ile581=)
|
|
|
NM_005592.4(MUSK):c.1749G>A (p.Glu583=)
|
|
|
NM_005592.4(MUSK):c.174G>A (p.Glu58=)
|
|
|
NM_005592.4(MUSK):c.1778+18A>G
|
|
|
NM_005592.4(MUSK):c.1778+19A>C
|
|
|
NM_005592.4(MUSK):c.1778+25dup
|
rs200937545
|
|
NM_005592.4(MUSK):c.1778+7T>C
|
rs1021982098
|
|
NM_005592.4(MUSK):c.1779-16T>C
|
|
|
NM_005592.4(MUSK):c.1779-20T>C
|
|
|
NM_005592.4(MUSK):c.1788C>T (p.Gly596=)
|
|
|
NM_005592.4(MUSK):c.1789T>C (p.Leu597=)
|
|
|
NM_005592.4(MUSK):c.1818G>A (p.Val606=)
|
rs2132034695
|
|
NM_005592.4(MUSK):c.1833C>A (p.Leu611=)
|
|
|
NM_005592.4(MUSK):c.1848G>A (p.Ser616=)
|
|
|
NM_005592.4(MUSK):c.1927+12C>A
|
|
|
NM_005592.4(MUSK):c.1927+17G>C
|
|
|
NM_005592.4(MUSK):c.1927+19G>A
|
|
|
NM_005592.4(MUSK):c.1927+8A>C
|
|
|
NM_005592.4(MUSK):c.1928-14T>C
|
|
|
NM_005592.4(MUSK):c.1928-14T>G
|
|
|
NM_005592.4(MUSK):c.1928-20G>T
|
|
|
NM_005592.4(MUSK):c.1928-4C>T
|
|
|
NM_005592.4(MUSK):c.1928-8G>C
|
|
|
NM_005592.4(MUSK):c.1965T>C (p.Phe655=)
|
|
|
NM_005592.4(MUSK):c.1980T>C (p.Tyr660=)
|
|
|
NM_005592.4(MUSK):c.2007C>T (p.Ser669=)
|
|
|
NM_005592.4(MUSK):c.2013C>G (p.Ser671=)
|
rs1564300316
|
|
NM_005592.4(MUSK):c.2013C>T (p.Ser671=)
|
rs1564300316
|
|
NM_005592.4(MUSK):c.2022C>T (p.Thr674=)
|
rs772683882
|
|
NM_005592.4(MUSK):c.2031C>T (p.Ser677=)
|
|
|
NM_005592.4(MUSK):c.2058G>A (p.Arg686=)
|
rs2132066129
|
|
NM_005592.4(MUSK):c.206+12A>T
|
|
|
NM_005592.4(MUSK):c.206+19_206+23del
|
|
|
NM_005592.4(MUSK):c.206+20A>T
|
|
|
NM_005592.4(MUSK):c.207-11G>A
|
|
|
NM_005592.4(MUSK):c.207-11G>C
|
|
|
NM_005592.4(MUSK):c.207-16T>C
|
|
|
NM_005592.4(MUSK):c.2079G>C (p.Gly693=)
|
|
|
NM_005592.4(MUSK):c.2082C>G (p.Pro694=)
|
|
|
NM_005592.4(MUSK):c.2082C>T (p.Pro694=)
|
rs201616041
|
|
NM_005592.4(MUSK):c.2088C>A (p.Pro696=)
|
rs751434801
|
|
NM_005592.4(MUSK):c.2103G>A (p.Glu701=)
|
|
|
NM_005592.4(MUSK):c.210C>A (p.Leu70=)
|
|
|
NM_005592.4(MUSK):c.2112C>T (p.Cys704=)
|
|
|
NM_005592.4(MUSK):c.2136C>T (p.Gly712=)
|
|
|
NM_005592.4(MUSK):c.2196G>A (p.Leu732=)
|
|
|
NM_005592.4(MUSK):c.2208C>T (p.Asn736=)
|
|
|
NM_005592.4(MUSK):c.2226C>T (p.Ala742=)
|
|
|
NM_005592.4(MUSK):c.222G>C (p.Arg74=)
|
|
|
NM_005592.4(MUSK):c.2256A>T (p.Ser752=)
|
|
|
NM_005592.4(MUSK):c.2274T>G (p.Ala758=)
|
|
|
NM_005592.4(MUSK):c.2277T>C (p.Asn759=)
|
rs2132067450
|
|
NM_005592.4(MUSK):c.2289T>A (p.Ala763=)
|
|
|
NM_005592.4(MUSK):c.228C>T (p.Ser76=)
|
rs768514590
|
|
NM_005592.4(MUSK):c.2292C>A (p.Ile764=)
|
|
|
NM_005592.4(MUSK):c.2292C>T (p.Ile764=)
|
rs560916681
|
|
NM_005592.4(MUSK):c.232C>A (p.Arg78=)
|
rs747987063
|
|
NM_005592.4(MUSK):c.234G>A (p.Arg78=)
|
|
|
NM_005592.4(MUSK):c.2355G>T (p.Val785=)
|
|
|
NM_005592.4(MUSK):c.2367C>T (p.Gly789=)
|
|
|
NM_005592.4(MUSK):c.2382G>A (p.Glu794=)
|
|
|
NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)
|
|
|
NM_005592.4(MUSK):c.2398C>T (p.Leu800=)
|
rs1303813392
|
|
NM_005592.4(MUSK):c.240T>C (p.Asn80=)
|
|
|
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)
|
rs551520537
|
|
NM_005592.4(MUSK):c.2451T>C (p.Asp817=)
|
|
|
NM_005592.4(MUSK):c.2457C>T (p.Asn819=)
|
|
|
NM_005592.4(MUSK):c.2463C>T (p.Leu821=)
|
|
|
NM_005592.4(MUSK):c.2481C>T (p.Cys827=)
|
|
|
NM_005592.4(MUSK):c.2493G>A (p.Leu831=)
|
|
|
NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)
|
|
|
NM_005592.4(MUSK):c.2511A>G (p.Leu837=)
|
rs1447190013
|
|
NM_005592.4(MUSK):c.252C>G (p.Leu84=)
|
|
|
NM_005592.4(MUSK):c.255C>T (p.Thr85=)
|
|
|
NM_005592.4(MUSK):c.276T>C (p.Ser92=)
|
|
|
NM_005592.4(MUSK):c.282T>C (p.Asp94=)
|
|
|
NM_005592.4(MUSK):c.300G>C (p.Thr100=)
|
rs180928221
|
|
NM_005592.4(MUSK):c.309T>C (p.Asn103=)
|
|
|
NM_005592.4(MUSK):c.30A>G (p.Val10=)
|
|
|
NM_005592.4(MUSK):c.315G>C (p.Val105=)
|
|
|
NM_005592.4(MUSK):c.33T>C (p.His11=)
|
|
|
NM_005592.4(MUSK):c.342C>A (p.Ala114=)
|
|
|
NM_005592.4(MUSK):c.351G>T (p.Val117=)
|
|
|
NM_005592.4(MUSK):c.358+17T>C
|
|
|
NM_005592.4(MUSK):c.358+18T>C
|
|
|
NM_005592.4(MUSK):c.358+19C>A
|
|
|
NM_005592.4(MUSK):c.358+20G>C
|
|
|
NM_005592.4(MUSK):c.358+9G>A
|
|
|
NM_005592.4(MUSK):c.359-16T>G
|
|
|
NM_005592.4(MUSK):c.359-7T>A
|
|
|
NM_005592.4(MUSK):c.360A>G (p.Lys120=)
|
|
|
NM_005592.4(MUSK):c.375T>C (p.Arg125=)
|
rs2131713591
|
|
NM_005592.4(MUSK):c.417C>G (p.Val139=)
|
|
|
NM_005592.4(MUSK):c.444C>T (p.Pro148=)
|
|
|
NM_005592.4(MUSK):c.471A>G (p.Gly157=)
|
|
|
NM_005592.4(MUSK):c.484A>C (p.Arg162=)
|
|
|
NM_005592.4(MUSK):c.486+16G>A
|
|
|
NM_005592.4(MUSK):c.487-17G>A
|
|
|
NM_005592.4(MUSK):c.487-18C>T
|
|
|
NM_005592.4(MUSK):c.487-9C>T
|
|
|
NM_005592.4(MUSK):c.496C>A (p.Arg166=)
|
|
|
NM_005592.4(MUSK):c.513A>G (p.Glu171=)
|
|
|
NM_005592.4(MUSK):c.573G>A (p.Val191=)
|
|
|
NM_005592.4(MUSK):c.588C>T (p.Leu196=)
|
|
|
NM_005592.4(MUSK):c.597A>G (p.Ala199=)
|
|
|
NM_005592.4(MUSK):c.600T>C (p.Tyr200=)
|
|
|
NM_005592.4(MUSK):c.609G>A (p.Val203=)
|
rs762882154
|
|
NM_005592.4(MUSK):c.628+11G>A
|
|
|
NM_005592.4(MUSK):c.629-10T>C
|
rs753538572
|
|
NM_005592.4(MUSK):c.629-16del
|
|
|
NM_005592.4(MUSK):c.629-18C>T
|
|
|
NM_005592.4(MUSK):c.629-6T>C
|
|
|
NM_005592.4(MUSK):c.629-7C>T
|
|
|
NM_005592.4(MUSK):c.63T>C (p.Thr21=)
|
|
|
NM_005592.4(MUSK):c.646C>A (p.Arg216=)
|
|
|
NM_005592.4(MUSK):c.648G>C (p.Arg216=)
|
|
|
NM_005592.4(MUSK):c.675T>C (p.Phe225=)
|
|
|
NM_005592.4(MUSK):c.699T>C (p.Cys233=)
|
|
|
NM_005592.4(MUSK):c.708A>G (p.Thr236=)
|
|
|
NM_005592.4(MUSK):c.726C>A (p.Thr242=)
|
|
|
NM_005592.4(MUSK):c.738T>A (p.Ile246=)
|
|
|
NM_005592.4(MUSK):c.753+11T>C
|
|
|
NM_005592.4(MUSK):c.753+15T>C
|
|
|
NM_005592.4(MUSK):c.753+20G>A
|
|
|
NM_005592.4(MUSK):c.753+8T>C
|
|
|
NM_005592.4(MUSK):c.754-4T>C
|
|
|
NM_005592.4(MUSK):c.754-5G>C
|
rs991886956
|
|
NM_005592.4(MUSK):c.754-6T>G
|
|
|
NM_005592.4(MUSK):c.754-9C>T
|
|
|
NM_005592.4(MUSK):c.759T>C (p.Ser253=)
|
|
|
NM_005592.4(MUSK):c.765G>A (p.Gly255=)
|
|
|
NM_005592.4(MUSK):c.768C>T (p.Ser256=)
|
|
|
NM_005592.4(MUSK):c.780T>C (p.Ser260=)
|
rs886063353
|
|
NM_005592.4(MUSK):c.79+14A>G
|
|
|
NM_005592.4(MUSK):c.79+15T>C
|
|
|
NM_005592.4(MUSK):c.79+16C>T
|
|
|
NM_005592.4(MUSK):c.79+17G>A
|
|
|
NM_005592.4(MUSK):c.79+20T>C
|
|
|
NM_005592.4(MUSK):c.79+7T>C
|
|
|
NM_005592.4(MUSK):c.790C>A (p.Arg264=)
|
|
|
NM_005592.4(MUSK):c.795G>A (p.Val265=)
|
|
|
NM_005592.4(MUSK):c.80-15C>A
|
|
|
NM_005592.4(MUSK):c.80-19A>T
|
|
|
NM_005592.4(MUSK):c.80-7C>A
|
|
|
NM_005592.4(MUSK):c.80-7_80-3del
|
|
|
NM_005592.4(MUSK):c.80-9T>C
|
|
|
NM_005592.4(MUSK):c.804A>C (p.Ser268=)
|
|
|
NM_005592.4(MUSK):c.807A>G (p.Arg269=)
|
|
|
NM_005592.4(MUSK):c.831A>G (p.Pro277=)
|
|
|
NM_005592.4(MUSK):c.843A>C (p.Thr281=)
|
|
|
NM_005592.4(MUSK):c.855C>G (p.Thr285=)
|
|
|
NM_005592.4(MUSK):c.858T>C (p.Asn286=)
|
|
|
NM_005592.4(MUSK):c.861G>A (p.Lys287=)
|
|
|
NM_005592.4(MUSK):c.864T>C (p.His288=)
|
|
|
NM_005592.4(MUSK):c.879T>C (p.Ser293=)
|
|
|
NM_005592.4(MUSK):c.882T>A (p.Thr294=)
|
|
|
NM_005592.4(MUSK):c.900C>T (p.Thr300=)
|
|
|
NM_005592.4(MUSK):c.90C>T (p.Ile30=)
|
|
|
NM_005592.4(MUSK):c.913+10C>T
|
|
|
NM_005592.4(MUSK):c.913+11C>T
|
|
|
NM_005592.4(MUSK):c.913+13T>C
|
|
|
NM_005592.4(MUSK):c.913+9C>T
|
|
|
NM_005592.4(MUSK):c.914-10C>A
|
|
|
NM_005592.4(MUSK):c.914-5A>G
|
|
|
NM_005592.4(MUSK):c.920+10T>C
|
rs781462535
|
|
NM_005592.4(MUSK):c.920+11G>A
|
|
|
NM_005592.4(MUSK):c.920+11_920+12del
|
|
|
NM_005592.4(MUSK):c.920+20del
|
|
|
NM_005592.4(MUSK):c.920+9C>T
|
rs2131931808
|
|
NM_005592.4(MUSK):c.921-18_921-16del
|
|
|
NM_005592.4(MUSK):c.921-7C>T
|
rs2131955302
|
|
NM_005592.4(MUSK):c.954C>A (p.Ala318=)
|
rs968145791
|
|
NM_005592.4(MUSK):c.954C>G (p.Ala318=)
|
rs968145791
|
|
NM_005592.4(MUSK):c.990A>G (p.Ala330=)
|
rs1588014706
|
|
NM_005677.4(COLQ):c.1005C>T (p.Asn335=)
|
|
|
NM_005677.4(COLQ):c.106+11G>A
|
|
|
NM_005677.4(COLQ):c.106+18C>G
|
|
|
NM_005677.4(COLQ):c.106+7G>T
|
rs766993036
|
|
NM_005677.4(COLQ):c.1089C>T (p.Tyr363=)
|
rs752967536
|
|
NM_005677.4(COLQ):c.1152G>A (p.Glu384=)
|
|
|
NM_005677.4(COLQ):c.1195+17C>A
|
|
|
NM_005677.4(COLQ):c.1195+17C>T
|
|
|
NM_005677.4(COLQ):c.1196-17T>A
|
|
|
NM_005677.4(COLQ):c.1196-19C>A
|
|
|
NM_005677.4(COLQ):c.1200T>C (p.Cys400=)
|
|
|
NM_005677.4(COLQ):c.1209C>G (p.Ala403=)
|
|
|
NM_005677.4(COLQ):c.1209C>T (p.Ala403=)
|
|
|
NM_005677.4(COLQ):c.1221T>C (p.Asp407=)
|
|
|
NM_005677.4(COLQ):c.1257C>T (p.Gly419=)
|
rs1188131165
|
|
NM_005677.4(COLQ):c.1298+19C>G
|
rs1165126069
|
|
NM_005677.4(COLQ):c.1298+7A>T
|
|
|
NM_005677.4(COLQ):c.1299-9C>T
|
rs1372494255
|
|
NM_005677.4(COLQ):c.1299G>A (p.Gly433=)
|
rs754755194
|
|
NM_005677.4(COLQ):c.1338C>T (p.Ile446=)
|
rs73818504
|
|
NM_005677.4(COLQ):c.135T>C (p.Arg45=)
|
rs551550075
|
|
NM_005677.4(COLQ):c.141C>T (p.Gly47=)
|
|
|
NM_005677.4(COLQ):c.165G>C (p.Thr55=)
|
|
|
NM_005677.4(COLQ):c.165G>T (p.Thr55=)
|
|
|
NM_005677.4(COLQ):c.168T>G (p.Pro56=)
|
rs1575483827
|
|
NM_005677.4(COLQ):c.219+11T>C
|
rs2125138945
|
|
NM_005677.4(COLQ):c.220-19G>A
|
|
|
NM_005677.4(COLQ):c.25T>C (p.Leu9=)
|
|
|
NM_005677.4(COLQ):c.291G>T (p.Ser97=)
|
rs115201284
|
|
NM_005677.4(COLQ):c.292C>T (p.Leu98=)
|
|
|
NM_005677.4(COLQ):c.321+18G>C
|
rs944034091
|
|
NM_005677.4(COLQ):c.321+7G>T
|
|
|
NM_005677.4(COLQ):c.322-15A>G
|
|
|
NM_005677.4(COLQ):c.366+15T>C
|
|
|
NM_005677.4(COLQ):c.394-19T>C
|
|
|
NM_005677.4(COLQ):c.405C>A (p.Gly135=)
|
rs762810817
|
|
NM_005677.4(COLQ):c.408C>T (p.Pro136=)
|
|
|
NM_005677.4(COLQ):c.462C>T (p.Pro154=)
|
rs2062392219
|
|
NM_005677.4(COLQ):c.466-14T>C
|
|
|
NM_005677.4(COLQ):c.466-20TCT[2]
|
rs1368152894
|
|
NM_005677.4(COLQ):c.466-4A>G
|
|
|
NM_005677.4(COLQ):c.528+18A>G
|
|
|
NM_005677.4(COLQ):c.529-17C>T
|
|
|
NM_005677.4(COLQ):c.529-4T>G
|
|
|
NM_005677.4(COLQ):c.555+16G>C
|
|
|
NM_005677.4(COLQ):c.555+7G>A
|
rs2125116104
|
|
NM_005677.4(COLQ):c.556-15A>T
|
|
|
NM_005677.4(COLQ):c.558A>G (p.Gly186=)
|
rs2125115076
|
|
NM_005677.4(COLQ):c.600+18T>C
|
rs2125114984
|
|
NM_005677.4(COLQ):c.601-12C>T
|
|
|
NM_005677.4(COLQ):c.601-16G>A
|
rs762479425
|
|
NM_005677.4(COLQ):c.636+8A>G
|
|
|
NM_005677.4(COLQ):c.637-11C>T
|
|
|
NM_005677.4(COLQ):c.637-19T>A
|
|
|
NM_005677.4(COLQ):c.702A>C (p.Gly234=)
|
rs2125109713
|
|
NM_005677.4(COLQ):c.717+16C>A
|
|
|
NM_005677.4(COLQ):c.717+9C>T
|
|
|
NM_005677.4(COLQ):c.718-14T>C
|
|
|
NM_005677.4(COLQ):c.718-9C>T
|
rs756975517
|
|
NM_005677.4(COLQ):c.759G>A (p.Lys253=)
|
|
|
NM_005677.4(COLQ):c.783C>A (p.Gly261=)
|
|
|
NM_005677.4(COLQ):c.783C>G (p.Gly261=)
|
rs745798750
|
|
NM_005677.4(COLQ):c.792G>T (p.Gly264=)
|
rs1302815595
|
|
NM_005677.4(COLQ):c.804C>T (p.Pro268=)
|
|
|
NM_005677.4(COLQ):c.814+12A>G
|
|
|
NM_005677.4(COLQ):c.814+12dup
|
|
|
NM_005677.4(COLQ):c.815-1064del
|
|
|
NM_005677.4(COLQ):c.855C>A (p.Pro285=)
|
|
|
NM_005677.4(COLQ):c.855C>T (p.Pro285=)
|
rs758307097
|
|
NM_005677.4(COLQ):c.87C>T (p.Ser29=)
|
|
|
NM_005677.4(COLQ):c.924G>A (p.Val308=)
|
|
|
NM_005677.4(COLQ):c.955-7C>G
|
rs762298520
|
|
NM_005677.4(COLQ):c.955-9C>T
|
|
|
NM_020549.5(CHAT):c.1023C>G (p.Ser341=)
|
|
|
NM_020549.5(CHAT):c.1041G>A (p.Leu347=)
|
|
|
NM_020549.5(CHAT):c.1050T>C (p.Ile350=)
|
|
|
NM_020549.5(CHAT):c.1077C>T (p.Ser359=)
|
|
|
NM_020549.5(CHAT):c.1080G>A (p.Glu360=)
|
|
|
NM_020549.5(CHAT):c.1086C>G (p.Ala362=)
|
|
|
NM_020549.5(CHAT):c.1092C>A (p.Ala364=)
|
|
|
NM_020549.5(CHAT):c.1104C>T (p.Leu368=)
|
|
|
NM_020549.5(CHAT):c.1111+11G>A
|
|
|
NM_020549.5(CHAT):c.1111+13G>A
|
|
|
NM_020549.5(CHAT):c.1111+16C>T
|
|
|
NM_020549.5(CHAT):c.1112-12C>A
|
|
|
NM_020549.5(CHAT):c.1112-14T>C
|
|
|
NM_020549.5(CHAT):c.1112-16C>T
|
|
|
NM_020549.5(CHAT):c.1112-20T>G
|
|
|
NM_020549.5(CHAT):c.1112-4G>A
|
|
|
NM_020549.5(CHAT):c.1112-5T>C
|
|
|
NM_020549.5(CHAT):c.1112-6C>A
|
|
|
NM_020549.5(CHAT):c.1112-8C>T
|
|
|
NM_020549.5(CHAT):c.111C>T (p.Leu37=)
|
|
|
NM_020549.5(CHAT):c.1123C>A (p.Arg375=)
|
rs141794970
|
|
NM_020549.5(CHAT):c.1125G>A (p.Arg375=)
|
|
|
NM_020549.5(CHAT):c.1137C>T (p.Asp379=)
|
|
|
NM_020549.5(CHAT):c.1167C>T (p.Cys389=)
|
|
|
NM_020549.5(CHAT):c.1176G>A (p.Ala392=)
|
|
|
NM_020549.5(CHAT):c.1179A>G (p.Pro393=)
|
rs1013445287
|
|
NM_020549.5(CHAT):c.1188G>A (p.Val396=)
|
|
|
NM_020549.5(CHAT):c.1194C>T (p.Leu398=)
|
|
|
NM_020549.5(CHAT):c.1203C>A (p.Thr401=)
|
|
|
NM_020549.5(CHAT):c.120T>C (p.Gly40=)
|
|
|
NM_020549.5(CHAT):c.1224T>C (p.Leu408=)
|
|
|
NM_020549.5(CHAT):c.1230C>A (p.Gly410=)
|
|
|
NM_020549.5(CHAT):c.1233A>G (p.Gly411=)
|
|
|
NM_020549.5(CHAT):c.1236C>A (p.Gly412=)
|
|
|
NM_020549.5(CHAT):c.1242C>T (p.Ser414=)
|
|
|
NM_020549.5(CHAT):c.1251G>C (p.Gly417=)
|
|
|
NM_020549.5(CHAT):c.1254C>T (p.Ala418=)
|
|
|
NM_020549.5(CHAT):c.1269C>T (p.Asp423=)
|
|
|
NM_020549.5(CHAT):c.126C>T (p.Arg42=)
|
|
|
NM_020549.5(CHAT):c.1278G>A (p.Leu426=)
|
|
|
NM_020549.5(CHAT):c.1282-11T>C
|
|
|
NM_020549.5(CHAT):c.1282-13T>C
|
|
|
NM_020549.5(CHAT):c.1282-14_1282-13del
|
|
|
NM_020549.5(CHAT):c.1282-16C>T
|
|
|
NM_020549.5(CHAT):c.1282-19T>C
|
|
|
NM_020549.5(CHAT):c.1282-4G>A
|
|
|
NM_020549.5(CHAT):c.1299C>T (p.Asp433=)
|
|
|
NM_020549.5(CHAT):c.1326C>T (p.His442=)
|
|
|
NM_020549.5(CHAT):c.1341C>T (p.Gly447=)
|
rs1014316815
|
|
NM_020549.5(CHAT):c.1344C>T (p.Ile448=)
|
rs754253168
|
|
NM_020549.5(CHAT):c.1347C>T (p.Val449=)
|
|
|
NM_020549.5(CHAT):c.1356G>A (p.Gln452=)
|
|
|
NM_020549.5(CHAT):c.135G>A (p.Pro45=)
|
|
|
NM_020549.5(CHAT):c.135G>C (p.Pro45=)
|
rs954236201
|
|
NM_020549.5(CHAT):c.135G>T (p.Pro45=)
|
|
|
NM_020549.5(CHAT):c.1362T>C (p.Thr454=)
|
|
|
NM_020549.5(CHAT):c.1362T>G (p.Thr454=)
|
|
|
NM_020549.5(CHAT):c.1371G>A (p.Leu457=)
|
rs1274962675
|
|
NM_020549.5(CHAT):c.1382+18G>A
|
|
|
NM_020549.5(CHAT):c.1382+8T>G
|
|
|
NM_020549.5(CHAT):c.1383-16G>T
|
|
|
NM_020549.5(CHAT):c.1383-17T>C
|
|
|
NM_020549.5(CHAT):c.1383-17T>G
|
|
|
NM_020549.5(CHAT):c.1383-20G>A
|
|
|
NM_020549.5(CHAT):c.1383-20G>C
|
|
|
NM_020549.5(CHAT):c.1383-5C>T
|
|
|
NM_020549.5(CHAT):c.1383-7C>T
|
|
|
NM_020549.5(CHAT):c.1386G>T (p.Thr462=)
|
|
|
NM_020549.5(CHAT):c.1389G>A (p.Gln463=)
|
|
|
NM_020549.5(CHAT):c.138C>A (p.Gly46=)
|
|
|
NM_020549.5(CHAT):c.1398G>A (p.Arg466=)
|
|
|
NM_020549.5(CHAT):c.1401G>A (p.Lys467=)
|
rs1305182651
|
|
NM_020549.5(CHAT):c.1404G>A (p.Leu468=)
|
|
|
NM_020549.5(CHAT):c.1408C>A (p.Arg470=)
|
rs142889639
|
|
NM_020549.5(CHAT):c.1410A>C (p.Arg470=)
|
|
|
NM_020549.5(CHAT):c.1419C>A (p.Ser473=)
|
rs200175587
|
|
NM_020549.5(CHAT):c.1425C>T (p.Ser475=)
|
|
|
NM_020549.5(CHAT):c.1437C>T (p.Ala479=)
|
rs2132812100
|
|
NM_020549.5(CHAT):c.1441C>A (p.Arg481=)
|
|
|
NM_020549.5(CHAT):c.1449G>T (p.Leu483=)
|
|
|
NM_020549.5(CHAT):c.1450C>A (p.Arg484=)
|
|
|
NM_020549.5(CHAT):c.1464C>A (p.Ser488=)
|
rs1590611293
|
|
NM_020549.5(CHAT):c.1473T>A (p.Ile491=)
|
|
|
NM_020549.5(CHAT):c.1479C>A (p.Gly493=)
|
|
|
NM_020549.5(CHAT):c.1482C>T (p.His494=)
|
|
|
NM_020549.5(CHAT):c.1488C>G (p.Ala496=)
|
|
|
NM_020549.5(CHAT):c.1488C>T (p.Ala496=)
|
|
|
NM_020549.5(CHAT):c.150C>A (p.Gly50=)
|
rs1275077667
|
|
NM_020549.5(CHAT):c.1511+12C>T
|
|
|
NM_020549.5(CHAT):c.1511+13G>T
|
|
|
NM_020549.5(CHAT):c.1511+18C>T
|
|
|
NM_020549.5(CHAT):c.1511+19T>G
|
rs867084609
|
|
NM_020549.5(CHAT):c.1511+20C>T
|
|
|
NM_020549.5(CHAT):c.1511+8T>C
|
|
|
NM_020549.5(CHAT):c.1512-10T>C
|
rs2132820333
|
|
NM_020549.5(CHAT):c.1512-12T>C
|
|
|
NM_020549.5(CHAT):c.1512-14T>A
|
|
|
NM_020549.5(CHAT):c.1512-18T>C
|
|
|
NM_020549.5(CHAT):c.1512-20C>A
|
|
|
NM_020549.5(CHAT):c.156C>G (p.Ala52=)
|
|
|
NM_020549.5(CHAT):c.159G>A (p.Gly53=)
|
|
|
NM_020549.5(CHAT):c.1605C>T (p.Ile535=)
|
rs772695708
|
|
NM_020549.5(CHAT):c.1614C>T (p.Ala538=)
|
|
|
NM_020549.5(CHAT):c.1617C>G (p.Leu539=)
|
|
|
NM_020549.5(CHAT):c.1626C>T (p.Ala542=)
|
|
|
NM_020549.5(CHAT):c.1634+11G>C
|
|
|
NM_020549.5(CHAT):c.1634+17T>G
|
|
|
NM_020549.5(CHAT):c.1634+18G>A
|
|
|
NM_020549.5(CHAT):c.1634+7G>A
|
|
|
NM_020549.5(CHAT):c.1635-12C>T
|
|
|
NM_020549.5(CHAT):c.1635-16C>T
|
|
|
NM_020549.5(CHAT):c.1635-4G>A
|
|
|
NM_020549.5(CHAT):c.1635-5C>T
|
rs776745899
|
|
NM_020549.5(CHAT):c.1650G>A (p.Leu550=)
|
|
|
NM_020549.5(CHAT):c.1665G>A (p.Glu555=)
|
|
|
NM_020549.5(CHAT):c.168C>A (p.Gly56=)
|
|
|
NM_020549.5(CHAT):c.1695A>C (p.Gly565=)
|
|
|
NM_020549.5(CHAT):c.1698C>T (p.Arg566=)
|
rs760452753
|
|
NM_020549.5(CHAT):c.1701G>T (p.Val567=)
|
|
|
NM_020549.5(CHAT):c.1728G>A (p.Glu576=)
|
rs2132830737
|
|
NM_020549.5(CHAT):c.1731A>G (p.Ala577=)
|
|
|
NM_020549.5(CHAT):c.1732C>T (p.Leu578=)
|
|
|
NM_020549.5(CHAT):c.1746A>G (p.Arg582=)
|
rs779923095
|
|
NM_020549.5(CHAT):c.1749C>T (p.Ala583=)
|
|
|
NM_020549.5(CHAT):c.1764G>A (p.Lys588=)
|
|
|
NM_020549.5(CHAT):c.1767T>C (p.Ala589=)
|
|
|
NM_020549.5(CHAT):c.1776+10G>A
|
|
|
NM_020549.5(CHAT):c.1776+11C>T
|
|
|
NM_020549.5(CHAT):c.1776+12C>T
|
|
|
NM_020549.5(CHAT):c.1776+15A>G
|
|
|
NM_020549.5(CHAT):c.1776+15_1776+17del
|
|
|
NM_020549.5(CHAT):c.1776+16C>A
|
|
|
NM_020549.5(CHAT):c.1776+16C>G
|
|
|
NM_020549.5(CHAT):c.1776+18C>A
|
|
|
NM_020549.5(CHAT):c.1776+7C>A
|
|
|
NM_020549.5(CHAT):c.1776+7C>G
|
|
|
NM_020549.5(CHAT):c.1776+7C>T
|
|
|
NM_020549.5(CHAT):c.1777-11T>C
|
|
|
NM_020549.5(CHAT):c.1777-13G>A
|
|
|
NM_020549.5(CHAT):c.1777-17_1777-16del
|
|
|
NM_020549.5(CHAT):c.1777-20C>A
|
|
|
NM_020549.5(CHAT):c.1777-7T>C
|
|
|
NM_020549.5(CHAT):c.177C>T (p.Pro59=)
|
|
|
NM_020549.5(CHAT):c.1782T>C (p.Ser594=)
|
|
|
NM_020549.5(CHAT):c.1785G>A (p.Glu595=)
|
|
|
NM_020549.5(CHAT):c.1794G>T (p.Leu598=)
|
|
|
NM_020549.5(CHAT):c.1797C>T (p.Leu599=)
|
|
|
NM_020549.5(CHAT):c.1800G>A (p.Leu600=)
|
|
|
NM_020549.5(CHAT):c.1839+12C>T
|
rs1554808562
|
|
NM_020549.5(CHAT):c.1839+13G>A
|
|
|
NM_020549.5(CHAT):c.1839+14C>T
|
rs1840007140
|
|
NM_020549.5(CHAT):c.1840-10A>G
|
|
|
NM_020549.5(CHAT):c.1840-13C>T
|
|
|
NM_020549.5(CHAT):c.1840-14C>G
|
|
|
NM_020549.5(CHAT):c.1840-17T>C
|
|
|
NM_020549.5(CHAT):c.1840-4A>G
|
|
|
NM_020549.5(CHAT):c.1840-7T>C
|
|
|
NM_020549.5(CHAT):c.1848A>T (p.Thr616=)
|
|
|
NM_020549.5(CHAT):c.1851G>A (p.Gly617=)
|
|
|
NM_020549.5(CHAT):c.1860T>A (p.Ile620=)
|
|
|
NM_020549.5(CHAT):c.1863C>T (p.Asp621=)
|
rs1590628381
|
|
NM_020549.5(CHAT):c.186C>T (p.Arg62=)
|
|
|
NM_020549.5(CHAT):c.1911G>A (p.Glu637=)
|
|
|
NM_020549.5(CHAT):c.1917C>T (p.Pro639=)
|
|
|
NM_020549.5(CHAT):c.1926C>T (p.Phe642=)
|
|
|
NM_020549.5(CHAT):c.1935A>G (p.Glu645=)
|
|
|
NM_020549.5(CHAT):c.1944G>A (p.Leu648=)
|
|
|
NM_020549.5(CHAT):c.1950C>T (p.Ser650=)
|
|
|
NM_020549.5(CHAT):c.1956G>T (p.Arg652=)
|
|
|
NM_020549.5(CHAT):c.1977+10C>T
|
rs781627020
|
|
NM_020549.5(CHAT):c.1977+11G>A
|
|
|
NM_020549.5(CHAT):c.1978-15T>C
|
rs2132858259
|
|
NM_020549.5(CHAT):c.1978-9C>A
|
|
|
NM_020549.5(CHAT):c.1978-9C>G
|
|
|
NM_020549.5(CHAT):c.1980G>A (p.Val660=)
|
|
|
NM_020549.5(CHAT):c.1995G>A (p.Glu665=)
|
|
|
NM_020549.5(CHAT):c.2010T>C (p.Tyr670=)
|
|
|
NM_020549.5(CHAT):c.2013T>C (p.Gly671=)
|
|
|
NM_020549.5(CHAT):c.2016T>C (p.Pro672=)
|
|
|
NM_020549.5(CHAT):c.2019G>A (p.Val673=)
|
|
|
NM_020549.5(CHAT):c.201C>A (p.Pro67=)
|
|
|
NM_020549.5(CHAT):c.2022C>T (p.Val674=)
|
|
|
NM_020549.5(CHAT):c.2025A>G (p.Pro675=)
|
|
|
NM_020549.5(CHAT):c.2040C>G (p.Ala680=)
|
|
|
NM_020549.5(CHAT):c.2046C>T (p.Tyr682=)
|
|
|
NM_020549.5(CHAT):c.2067C>A (p.Ile689=)
|
|
|
NM_020549.5(CHAT):c.2094C>T (p.Ser698=)
|
|
|
NM_020549.5(CHAT):c.2151C>T (p.Asp717=)
|
|
|
NM_020549.5(CHAT):c.2166C>T (p.Cys722=)
|
|
|
NM_020549.5(CHAT):c.2169T>C (p.Ser723=)
|
|
|
NM_020549.5(CHAT):c.2172G>T (p.Leu724=)
|
|
|
NM_020549.5(CHAT):c.2190C>T (p.Ser730=)
|
|
|
NM_020549.5(CHAT):c.2197T>C (p.Leu733=)
|
|
|
NM_020549.5(CHAT):c.219C>T (p.His73=)
|
|
|
NM_020549.5(CHAT):c.2205A>G (p.Thr735=)
|
|
|
NM_020549.5(CHAT):c.2220G>A (p.Thr740=)
|
|
|
NM_020549.5(CHAT):c.2220G>C (p.Thr740=)
|
|
|
NM_020549.5(CHAT):c.2232G>A (p.Gln744=)
|
|
|
NM_020549.5(CHAT):c.2242C>G (p.Pro748Ala)
|
|
|
NM_020549.5(CHAT):c.2244T>G (p.Pro748=)
|
|
|
NM_020549.5(CHAT):c.225C>A (p.Pro75=)
|
|
|
NM_020549.5(CHAT):c.228C>G (p.Ala76=)
|
|
|
NM_020549.5(CHAT):c.240G>A (p.Glu80=)
|
|
|
NM_020549.5(CHAT):c.252A>C (p.Ala84=)
|
rs112079336
|
|
NM_020549.5(CHAT):c.255G>A (p.Ala85=)
|
|
|
NM_020549.5(CHAT):c.258G>A (p.Ser86=)
|
rs778636468
|
|
NM_020549.5(CHAT):c.261C>G (p.Ala87=)
|
|
|
NM_020549.5(CHAT):c.273G>A (p.Glu91=)
|
|
|
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg)
|
rs372298555
|
|
NM_020549.5(CHAT):c.276G>A (p.Pro92=)
|
rs745665140
|
|
NM_020549.5(CHAT):c.27G>A (p.Arg9=)
|
|
|
NM_020549.5(CHAT):c.282A>G (p.Arg94=)
|
rs2132695418
|
|
NM_020549.5(CHAT):c.286+11GGGCT[4]
|
|
|
NM_020549.5(CHAT):c.286+12G>T
|
rs2132695528
|
|
NM_020549.5(CHAT):c.286+13G>A
|
|
|
NM_020549.5(CHAT):c.286+13G>T
|
|
|
NM_020549.5(CHAT):c.286+16G>A
|
|
|
NM_020549.5(CHAT):c.286+20_286+28del
|
|
|
NM_020549.5(CHAT):c.286+9_286+11del
|
|
|
NM_020549.5(CHAT):c.287-10T>C
|
rs770517566
|
|
NM_020549.5(CHAT):c.287-12C>T
|
|
|
NM_020549.5(CHAT):c.287-8G>A
|
|
|
NM_020549.5(CHAT):c.287-9G>C
|
|
|
NM_020549.5(CHAT):c.294C>T (p.His98=)
|
|
|
NM_020549.5(CHAT):c.297C>G (p.Leu99=)
|
|
|
NM_020549.5(CHAT):c.300C>T (p.Cys100=)
|
|
|
NM_020549.5(CHAT):c.306T>C (p.Pro102=)
|
|
|
NM_020549.5(CHAT):c.30G>A (p.Gly10=)
|
rs528479799
|
|
NM_020549.5(CHAT):c.30G>C (p.Gly10=)
|
|
|
NM_020549.5(CHAT):c.30G>T (p.Gly10=)
|
|
|
NM_020549.5(CHAT):c.315A>G (p.Gly105=)
|
|
|
NM_020549.5(CHAT):c.333C>T (p.Ile111=)
|
|
|
NM_020549.5(CHAT):c.33T>C (p.Leu11=)
|
|
|
NM_020549.5(CHAT):c.345C>A (p.Val115=)
|
rs917815714
|
|
NM_020549.5(CHAT):c.372C>T (p.Pro124=)
|
|
|
NM_020549.5(CHAT):c.378T>C (p.Ser126=)
|
rs2132702237
|
|
NM_020549.5(CHAT):c.387+16A>G
|
|
|
NM_020549.5(CHAT):c.387+17G>A
|
|
|
NM_020549.5(CHAT):c.387+9C>T
|
|
|
NM_020549.5(CHAT):c.388-11C>G
|
|
|
NM_020549.5(CHAT):c.388-11del
|
|
|
NM_020549.5(CHAT):c.388-12C>A
|
|
|
NM_020549.5(CHAT):c.388-12C>T
|
|
|
NM_020549.5(CHAT):c.388-16G>A
|
|
|
NM_020549.5(CHAT):c.388-17T>C
|
|
|
NM_020549.5(CHAT):c.388-18A>G
|
rs1016103413
|
|
NM_020549.5(CHAT):c.388-6T>C
|
rs2132710242
|
|
NM_020549.5(CHAT):c.399A>G (p.Lys133=)
|
|
|
NM_020549.5(CHAT):c.400C>T (p.Leu134=)
|
|
|
NM_020549.5(CHAT):c.405C>A (p.Pro135=)
|
|
|
NM_020549.5(CHAT):c.405C>G (p.Pro135=)
|
|
|
NM_020549.5(CHAT):c.405C>T (p.Pro135=)
|
rs757344796
|
|
NM_020549.5(CHAT):c.411C>T (p.Pro137=)
|
rs764063564
|
|
NM_020549.5(CHAT):c.420G>A (p.Gln140=)
|
|
|
NM_020549.5(CHAT):c.432C>T (p.Ala144=)
|
|
|
NM_020549.5(CHAT):c.435G>T (p.Thr145=)
|
|
|
NM_020549.5(CHAT):c.439C>T (p.Leu147=)
|
rs1838632986
|
|
NM_020549.5(CHAT):c.441G>A (p.Leu147=)
|
|
|
NM_020549.5(CHAT):c.444G>A (p.Gln148=)
|
|
|
NM_020549.5(CHAT):c.451C>A (p.Arg151=)
|
|
|
NM_020549.5(CHAT):c.45G>A (p.Gly15=)
|
|
|
NM_020549.5(CHAT):c.45G>C (p.Gly15=)
|
|
|
NM_020549.5(CHAT):c.516T>C (p.Pro172=)
|
|
|
NM_020549.5(CHAT):c.525C>T (p.Leu175=)
|
|
|
NM_020549.5(CHAT):c.550C>T (p.Leu184=)
|
|
|
NM_020549.5(CHAT):c.579+10G>C
|
|
|
NM_020549.5(CHAT):c.579+18G>T
|
|
|
NM_020549.5(CHAT):c.579+19G>A
|
|
|
NM_020549.5(CHAT):c.579+7G>A
|
|
|
NM_020549.5(CHAT):c.580-11dup
|
|
|
NM_020549.5(CHAT):c.580-16C>T
|
|
|
NM_020549.5(CHAT):c.580-17C>G
|
|
|
NM_020549.5(CHAT):c.580-5G>C
|
|
|
NM_020549.5(CHAT):c.580-8C>T
|
rs1590562931
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_020549.5(CHAT):c.612C>T (p.Leu204=)
|
rs1488503830
|
|
NM_020549.5(CHAT):c.621C>T (p.Arg207=)
|
|
|
NM_020549.5(CHAT):c.630G>T (p.Leu210=)
|
rs750447540
|
|
NM_020549.5(CHAT):c.651C>G (p.Ala217=)
|
rs575515952
|
|
NM_020549.5(CHAT):c.654G>T (p.Val218=)
|
|
|
NM_020549.5(CHAT):c.657C>T (p.Ile219=)
|
|
|
NM_020549.5(CHAT):c.660T>C (p.Phe220=)
|
|
|
NM_020549.5(CHAT):c.665G>A (p.Arg222Gln)
|
rs8178989
|
|
NM_020549.5(CHAT):c.681C>T (p.Gly227=)
|
|
|
NM_020549.5(CHAT):c.684C>T (p.Thr228=)
|
|
|
NM_020549.5(CHAT):c.693G>A (p.Gln231=)
|
|
|
NM_020549.5(CHAT):c.698+10T>C
|
|
|
NM_020549.5(CHAT):c.698+15C>G
|
|
|
NM_020549.5(CHAT):c.698+19T>A
|
|
|
NM_020549.5(CHAT):c.698+7C>T
|
rs1590563362
|
|
NM_020549.5(CHAT):c.699-14C>T
|
|
|
NM_020549.5(CHAT):c.699-18C>T
|
|
|
NM_020549.5(CHAT):c.699-4G>T
|
|
|
NM_020549.5(CHAT):c.699-6C>T
|
|
|
NM_020549.5(CHAT):c.699-9T>G
|
rs1207212526
|
|
NM_020549.5(CHAT):c.735C>T (p.Tyr245=)
|
|
|
NM_020549.5(CHAT):c.747G>A (p.Leu249=)
|
|
|
NM_020549.5(CHAT):c.747G>T (p.Leu249=)
|
|
|
NM_020549.5(CHAT):c.752+19T>C
|
|
|
NM_020549.5(CHAT):c.753-10T>C
|
|
|
NM_020549.5(CHAT):c.753-11C>T
|
|
|
NM_020549.5(CHAT):c.753-12C>T
|
|
|
NM_020549.5(CHAT):c.753-13T>C
|
|
|
NM_020549.5(CHAT):c.753-14C>T
|
|
|
NM_020549.5(CHAT):c.759C>T (p.Ser253=)
|
|
|
NM_020549.5(CHAT):c.771C>T (p.Asp257=)
|
|
|
NM_020549.5(CHAT):c.787C>T (p.Leu263=)
|
|
|
NM_020549.5(CHAT):c.795G>A (p.Gly265=)
|
|
|
NM_020549.5(CHAT):c.819C>T (p.Tyr273=)
|
|
|
NM_020549.5(CHAT):c.822T>C (p.Tyr274=)
|
|
|
NM_020549.5(CHAT):c.825G>A (p.Gly275=)
|
|
|
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del)
|
rs560648873
|
|
NM_020549.5(CHAT):c.834C>T (p.Ser278=)
|
rs775502083
|
|
NM_020549.5(CHAT):c.846C>T (p.Leu282=)
|
rs1213463622
|
|
NM_020549.5(CHAT):c.84G>A (p.Arg28=)
|
|
|
NM_020549.5(CHAT):c.85A>C (p.Arg29=)
|
rs772025588
|
|
NM_020549.5(CHAT):c.861G>A (p.Gln287=)
|
rs1590572872
|
|
NM_020549.5(CHAT):c.870G>A (p.Leu290=)
|
|
|
NM_020549.5(CHAT):c.873G>T (p.Val291=)
|
|
|
NM_020549.5(CHAT):c.915C>T (p.Ile305=)
|
|
|
NM_020549.5(CHAT):c.933+10C>A
|
|
|
NM_020549.5(CHAT):c.933+12C>T
|
|
|
NM_020549.5(CHAT):c.933+16T>C
|
|
|
NM_020549.5(CHAT):c.933+18T>C
|
|
|
NM_020549.5(CHAT):c.933+9C>A
|
|
|
NM_020549.5(CHAT):c.934-15C>T
|
|
|
NM_020549.5(CHAT):c.934-19T>G
|
|
|
NM_020549.5(CHAT):c.934-6C>T
|
|
|
NM_020549.5(CHAT):c.934-7C>T
|
|
|
NM_020549.5(CHAT):c.934-8C>T
|
|
|
NM_020549.5(CHAT):c.93G>T (p.Val31=)
|
|
|
NM_020549.5(CHAT):c.963C>T (p.Phe321=)
|
rs1838967996
|
|
NM_020549.5(CHAT):c.966C>T (p.Arg322=)
|
|
|
NM_020549.5(CHAT):c.981G>A (p.Gly327=)
|
|
|
NM_020549.5(CHAT):c.981G>T (p.Gly327=)
|
|
|
NM_020549.5(CHAT):c.984T>C (p.Asp328=)
|
|
|
NM_021815.5(SLC5A7):c.1023T>C (p.Ser341=)
|
|
|
NM_021815.5(SLC5A7):c.1023T>G (p.Ser341=)
|
|
|
NM_021815.5(SLC5A7):c.102C>T (p.Ser34=)
|
rs778941657
|
|
NM_021815.5(SLC5A7):c.1086C>T (p.Asn362=)
|
rs761044523
|
|
NM_021815.5(SLC5A7):c.1113+13del
|
rs2104379640
|
|
NM_021815.5(SLC5A7):c.1113+14C>A
|
|
|
NM_021815.5(SLC5A7):c.1113+14del
|
|
|
NM_021815.5(SLC5A7):c.1114-13C>A
|
|
|
NM_021815.5(SLC5A7):c.1114-16_1114-15del
|
|
|
NM_021815.5(SLC5A7):c.1161G>A (p.Val387=)
|
rs2104382693
|
|
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
|
|
|
NM_021815.5(SLC5A7):c.1182C>T (p.Ala394=)
|
|
|
NM_021815.5(SLC5A7):c.1203T>A (p.Thr401=)
|
|
|
NM_021815.5(SLC5A7):c.1251C>T (p.Ile417=)
|
rs1334655911
|
|
NM_021815.5(SLC5A7):c.1257C>T (p.Pro419=)
|
rs557717267
|
|
NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=)
|
rs1553459987
|
|
NM_021815.5(SLC5A7):c.1269T>C (p.Cys423=)
|
rs1678273384
|
|
NM_021815.5(SLC5A7):c.1290C>G (p.Thr430=)
|
rs1573618054
|
|
NM_021815.5(SLC5A7):c.1302G>A (p.Gly434=)
|
rs767552380
|
|
NM_021815.5(SLC5A7):c.1326C>T (p.Gly442=)
|
|
|
NM_021815.5(SLC5A7):c.1362G>C (p.Leu454=)
|
|
|
NM_021815.5(SLC5A7):c.1362G>T (p.Leu454=)
|
|
|
NM_021815.5(SLC5A7):c.1389T>C (p.Pro463=)
|
|
|
NM_021815.5(SLC5A7):c.1465T>C (p.Leu489=)
|
rs2104383662
|
|
NM_021815.5(SLC5A7):c.1497G>A (p.Lys499=)
|
rs2104383766
|
|
NM_021815.5(SLC5A7):c.1501C>T (p.Leu501=)
|
|
|
NM_021815.5(SLC5A7):c.1503A>G (p.Leu501=)
|
|
|
NM_021815.5(SLC5A7):c.1533A>G (p.Leu511=)
|
rs748269839
|
|
NM_021815.5(SLC5A7):c.154T>C (p.Leu52=)
|
rs894241313
|
|
NM_021815.5(SLC5A7):c.1569A>G (p.Glu523=)
|
|
|
NM_021815.5(SLC5A7):c.1608T>C (p.Asn536=)
|
|
|
NM_021815.5(SLC5A7):c.1615T>C (p.Leu539=)
|
rs904369740
|
|
NM_021815.5(SLC5A7):c.1629A>C (p.Ala543=)
|
|
|
NM_021815.5(SLC5A7):c.1659C>G (p.Leu553=)
|
rs2104384314
|
|
NM_021815.5(SLC5A7):c.1659C>T (p.Leu553=)
|
rs2104384314
|
|
NM_021815.5(SLC5A7):c.1677T>C (p.Asn559=)
|
rs1678299598
|
|
NM_021815.5(SLC5A7):c.1725T>G (p.Thr575=)
|
rs1678302888
|
|
NM_021815.5(SLC5A7):c.178+13G>A
|
|
|
NM_021815.5(SLC5A7):c.189C>T (p.Val63=)
|
rs1573591981
|
|
NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)
|
|
|
NM_021815.5(SLC5A7):c.285G>C (p.Leu95=)
|
|
|
NM_021815.5(SLC5A7):c.292+11G>C
|
rs777715689
|
|
NM_021815.5(SLC5A7):c.293-17A>T
|
|
|
NM_021815.5(SLC5A7):c.294T>C (p.Gly98=)
|
rs2104342304
|
|
NM_021815.5(SLC5A7):c.297C>T (p.Gly99=)
|
|
|
NM_021815.5(SLC5A7):c.324A>C (p.Ser108=)
|
|
|
NM_021815.5(SLC5A7):c.333T>C (p.Tyr111=)
|
rs1573593406
|
|
NM_021815.5(SLC5A7):c.351G>C (p.Pro117=)
|
rs368109143
|
|
NM_021815.5(SLC5A7):c.354T>C (p.Phe118=)
|
|
|
NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)
|
|
|
NM_021815.5(SLC5A7):c.390G>A (p.Leu130=)
|
rs1553457998
|
|
NM_021815.5(SLC5A7):c.39G>A (p.Val13=)
|
|
|
NM_021815.5(SLC5A7):c.402A>C (p.Ala134=)
|
|
|
NM_021815.5(SLC5A7):c.429A>G (p.Ala143=)
|
rs2104342884
|
|
NM_021815.5(SLC5A7):c.441T>C (p.Ser147=)
|
|
|
NM_021815.5(SLC5A7):c.448+12C>T
|
rs775806807
|
|
NM_021815.5(SLC5A7):c.448+7A>G
|
|
|
NM_021815.5(SLC5A7):c.448+9C>T
|
rs759922183
|
|
NM_021815.5(SLC5A7):c.449-11G>A
|
|
|
NM_021815.5(SLC5A7):c.449-13_449-12del
|
|
|
NM_021815.5(SLC5A7):c.449-9_449-8del
|
|
|
NM_021815.5(SLC5A7):c.528A>G (p.Thr176=)
|
rs780484840
|
|
NM_021815.5(SLC5A7):c.531G>T (p.Leu177=)
|
rs1027922396
|
|
NM_021815.5(SLC5A7):c.540G>A (p.Gly180=)
|
rs574474443
|
|
NM_021815.5(SLC5A7):c.540G>T (p.Gly180=)
|
rs574474443
|
|
NM_021815.5(SLC5A7):c.543C>T (p.Leu181=)
|
|
|
NM_021815.5(SLC5A7):c.555C>T (p.Ala185=)
|
rs1032544775
|
|
NM_021815.5(SLC5A7):c.567C>T (p.Val189=)
|
|
|
NM_021815.5(SLC5A7):c.591A>G (p.Val197=)
|
|
|
NM_021815.5(SLC5A7):c.594G>T (p.Gly198=)
|
|
|
NM_021815.5(SLC5A7):c.597+14C>T
|
rs370808911
|
|
NM_021815.5(SLC5A7):c.598-18T>G
|
rs892853771
|
|
NM_021815.5(SLC5A7):c.598-7G>A
|
rs759555286
|
|
NM_021815.5(SLC5A7):c.630T>C (p.Pro210=)
|
|
|
NM_021815.5(SLC5A7):c.648G>C (p.Gly216=)
|
rs1573607048
|
|
NM_021815.5(SLC5A7):c.741+11C>T
|
|
|
NM_021815.5(SLC5A7):c.741+8A>C
|
|
|
NM_021815.5(SLC5A7):c.742-10T>C
|
rs2104373298
|
|
NM_021815.5(SLC5A7):c.742-15G>A
|
|
|
NM_021815.5(SLC5A7):c.742-17T>C
|
|
|
NM_021815.5(SLC5A7):c.742-5C>T
|
rs1287734210
|
|
NM_021815.5(SLC5A7):c.742-6G>T
|
|
|
NM_021815.5(SLC5A7):c.747G>A (p.Leu249=)
|
rs2104373334
|
|
NM_021815.5(SLC5A7):c.759A>T (p.Pro253=)
|
rs372145153
|
|
NM_021815.5(SLC5A7):c.768A>C (p.Ala256=)
|
|
|
NM_021815.5(SLC5A7):c.840G>T (p.Gly280=)
|
|
|
NM_021815.5(SLC5A7):c.888A>C (p.Ala296=)
|
|
|
NM_021815.5(SLC5A7):c.895+12G>A
|
|
|
NM_021815.5(SLC5A7):c.895+17T>C
|
|
|
NM_021815.5(SLC5A7):c.895+20A>G
|
|
|
NM_021815.5(SLC5A7):c.896-13T>C
|
|
|
NM_021815.5(SLC5A7):c.896-17T>C
|
|
|
NM_021815.5(SLC5A7):c.896-18G>T
|
|
|
NM_021815.5(SLC5A7):c.903C>T (p.Asn301=)
|
rs2104379044
|
|
NM_021815.5(SLC5A7):c.912A>C (p.Ala304=)
|
|
|
NM_021815.5(SLC5A7):c.939A>G (p.Thr313=)
|
rs778842636
|
|
NM_021815.5(SLC5A7):c.963A>G (p.Pro321=)
|
|
|
NM_021815.5(SLC5A7):c.981C>T (p.Leu327=)
|
rs1011037891
|
|
NM_033087.4(ALG2):c.1047C>T (p.Pro349=)
|
rs1588618685
|
|
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
|
|
|
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
|
|
|
NM_033087.4(ALG2):c.1068T>C (p.Ser356=)
|
|
|
NM_033087.4(ALG2):c.108G>A (p.Ala36=)
|
|
|
NM_033087.4(ALG2):c.1107C>T (p.Phe369=)
|
|
|
NM_033087.4(ALG2):c.1110A>C (p.Ser370=)
|
rs369062018
|
|
NM_033087.4(ALG2):c.1110A>G (p.Ser370=)
|
|
|
NM_033087.4(ALG2):c.1185G>A (p.Lys395=)
|
|
|
NM_033087.4(ALG2):c.118C>T (p.Leu40=)
|
|
|
NM_033087.4(ALG2):c.1191A>G (p.Lys397=)
|
rs2118997478
|
|
NM_033087.4(ALG2):c.1248A>G (p.Val416=)
|
rs1828721761
|
|
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
|
|
|
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
|
|
|
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
|
|
|
NM_033087.4(ALG2):c.18C>T (p.Gly6=)
|
|
|
NM_033087.4(ALG2):c.195G>A (p.Glu65=)
|
|
|
NM_033087.4(ALG2):c.196C>T (p.Leu66=)
|
rs763273127
|
|
NM_033087.4(ALG2):c.213C>A (p.Ala71=)
|
|
|
NM_033087.4(ALG2):c.213C>G (p.Ala71=)
|
rs768862419
|
|
NM_033087.4(ALG2):c.213C>T (p.Ala71=)
|
rs768862419
|
|
NM_033087.4(ALG2):c.216G>C (p.Gly72=)
|
|
|
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
|
|
|
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
|
|
|
NM_033087.4(ALG2):c.258C>T (p.Ala86=)
|
rs1057521308
|
|
NM_033087.4(ALG2):c.264C>G (p.Val88=)
|
rs1015050313
|
|
NM_033087.4(ALG2):c.264C>T (p.Val88=)
|
|
|
NM_033087.4(ALG2):c.297C>G (p.Leu99=)
|
|
|
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
|
|
|
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
|
|
|
NM_033087.4(ALG2):c.315C>T (p.Ala105=)
|
rs1588620487
|
|
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
|
|
|
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
|
|
|
NM_033087.4(ALG2):c.339G>A (p.Val113=)
|
rs1554708016
|
|
NM_033087.4(ALG2):c.348+10C>A
|
|
|
NM_033087.4(ALG2):c.348+10C>T
|
|
|
NM_033087.4(ALG2):c.348+14G>A
|
rs2119007123
|
|
NM_033087.4(ALG2):c.348+18C>T
|
|
|
NM_033087.4(ALG2):c.348+20G>A
|
|
|
NM_033087.4(ALG2):c.348+7C>T
|
|
|
NM_033087.4(ALG2):c.348+8G>C
|
rs1230090169
|
|
NM_033087.4(ALG2):c.351G>T (p.Val117=)
|
|
|
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
|
|
|
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
|
|
|
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
|
|
|
NM_033087.4(ALG2):c.627C>T (p.Asp209=)
|
rs1187766399
|
|
NM_033087.4(ALG2):c.660C>A (p.Val220=)
|
|
|
NM_033087.4(ALG2):c.666G>A (p.Lys222=)
|
|
|
NM_033087.4(ALG2):c.675A>G (p.Lys225=)
|
|
|
NM_033087.4(ALG2):c.69C>T (p.Asp23=)
|
rs764985375
|
|
NM_033087.4(ALG2):c.717T>C (p.Asn239=)
|
rs1588618893
|
|
NM_033087.4(ALG2):c.729A>C (p.Ala243=)
|
|
|
NM_033087.4(ALG2):c.729A>T (p.Ala243=)
|
rs748947069
|
|
NM_033087.4(ALG2):c.75C>G (p.Gly25=)
|
rs1410757499
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_033087.4(ALG2):c.795C>A (p.Ile265=)
|
rs183416022
|
|
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
|
|
|
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
|
|
|
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
|
|
|
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
|
|
|
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
|
|
|
NM_033087.4(ALG2):c.984C>G (p.Gly328=)
|
|
|
NM_130811.4(SNAP25):c.105G>A (p.Leu35=)
|
|
|
NM_130811.4(SNAP25):c.114+18T>C
|
rs200107809
|
|
NM_130811.4(SNAP25):c.114+8G>A
|
rs2123019457
|
|
NM_130811.4(SNAP25):c.12C>T (p.Asp4=)
|
rs769285280
|
|
NM_130811.4(SNAP25):c.141G>A (p.Leu47=)
|
rs2123063889
|
|
NM_130811.4(SNAP25):c.163+12T>C
|
|
|
NM_130811.4(SNAP25):c.163+20G>A
|
rs1457848355
|
|
NM_130811.4(SNAP25):c.164-10G>T
|
rs370270068
|
|
NM_130811.4(SNAP25):c.164-8T>A
|
|
|
NM_130811.4(SNAP25):c.165A>G (p.Glu55=)
|
rs2123120164
|
|
NM_130811.4(SNAP25):c.180T>C (p.Ile60=)
|
rs2123120284
|
|
NM_130811.4(SNAP25):c.183G>A (p.Glu61=)
|
rs2123120317
|
|
NM_130811.4(SNAP25):c.186A>G (p.Glu62=)
|
rs2123120338
|
|
NM_130811.4(SNAP25):c.189G>A (p.Gly63=)
|
rs1051267
|
|
NM_130811.4(SNAP25):c.27T>C (p.Asn9=)
|
|
|
NM_130811.4(SNAP25):c.281+13T>A
|
|
|
NM_130811.4(SNAP25):c.281+17T>C
|
|
|
NM_130811.4(SNAP25):c.281+18G>C
|
|
|
NM_130811.4(SNAP25):c.282-11C>G
|
|
|
NM_130811.4(SNAP25):c.282-15C>G
|
|
|
NM_130811.4(SNAP25):c.282-20T>G
|
|
|
NM_130811.4(SNAP25):c.331G>A (p.Gly111Arg)
|
|
|
NM_130811.4(SNAP25):c.333A>G (p.Gly111=)
|
|
|
NM_130811.4(SNAP25):c.345C>T (p.Ser115=)
|
|
|
NM_130811.4(SNAP25):c.378G>A (p.Gln126=)
|
rs2123143693
|
|
NM_130811.4(SNAP25):c.393C>A (p.Gly131=)
|
|
|
NM_130811.4(SNAP25):c.393C>G (p.Gly131=)
|
rs761144395
|
|
NM_130811.4(SNAP25):c.405C>T (p.Arg135=)
|
|
|
NM_130811.4(SNAP25):c.407+11T>A
|
rs2123144086
|
|
NM_130811.4(SNAP25):c.407+11T>C
|
rs2123144086
|
|
NM_130811.4(SNAP25):c.407+5_407+19dup
|
rs2123144027
|
|
NM_130811.4(SNAP25):c.408-11T>G
|
|
|
NM_130811.4(SNAP25):c.408-14T>C
|
|
|
NM_130811.4(SNAP25):c.408-18T>G
|
|
|
NM_130811.4(SNAP25):c.408-19C>T
|
|
|
NM_130811.4(SNAP25):c.408-8G>A
|
|
|
NM_130811.4(SNAP25):c.408-9G>T
|
|
|
NM_130811.4(SNAP25):c.424C>T (p.Arg142Ter)
|
rs1235064890
|
|
NM_130811.4(SNAP25):c.426A>G (p.Arg142=)
|
rs2123158690
|
|
NM_130811.4(SNAP25):c.427G>C (p.Glu143Gln)
|
|
|
NM_130811.4(SNAP25):c.471C>A (p.Ile157=)
|
rs777212434
|
|
NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg)
|
|
|
NM_130811.4(SNAP25):c.493C>T (p.Leu165=)
|
|
|
NM_130811.4(SNAP25):c.495G>A (p.Leu165=)
|
rs2064182455
|
|
NM_130811.4(SNAP25):c.513C>A (p.Ile171=)
|
rs372122045
|
|
NM_130811.4(SNAP25):c.516T>C (p.Asp172=)
|
|
|
NM_130811.4(SNAP25):c.51G>A (p.Arg17=)
|
|
|
NM_130811.4(SNAP25):c.528C>T (p.Arg176=)
|
|
|
NM_130811.4(SNAP25):c.552+12G>T
|
|
|
NM_130811.4(SNAP25):c.553-12C>T
|
|
|
NM_130811.4(SNAP25):c.57_68del (p.Gln20_Asp23del)
|
rs2123003652
|
|
NM_130811.4(SNAP25):c.594T>C (p.Arg198=)
|
rs2123205294
|
|
NM_130811.4(SNAP25):c.60G>A (p.Gln20=)
|
|
|
NM_130811.4(SNAP25):c.61T>C (p.Leu21=)
|
|
|
NM_130811.4(SNAP25):c.72+11GA[3]
|
rs758885481
|
|
NM_130811.4(SNAP25):c.72+7A>C
|
|
|
NM_130811.4(SNAP25):c.73-12T>C
|
|
|
NM_130811.4(SNAP25):c.73-16del
|
|
|
NM_130811.4(SNAP25):c.75G>A (p.Ser25=)
|
rs147866099
|
|
NM_130811.4(SNAP25):c.93T>A (p.Arg31=)
|
rs2123019204
|
|
NM_144988.4(ALG14):c.111C>T (p.Leu37=)
|
rs1035901315
|
|
NM_144988.4(ALG14):c.132G>A (p.Gly44=)
|
|
|
NM_144988.4(ALG14):c.136+10G>A
|
|
|
NM_144988.4(ALG14):c.136+10G>C
|
rs771775941
|
|
NM_144988.4(ALG14):c.136+17C>A
|
rs2100856342
|
|
NM_144988.4(ALG14):c.136+18G>T
|
|
|
NM_144988.4(ALG14):c.137-15T>C
|
|
|
NM_144988.4(ALG14):c.137-8T>C
|
|
|
NM_144988.4(ALG14):c.138T>C (p.Gly46=)
|
|
|
NM_144988.4(ALG14):c.165G>A (p.Leu55=)
|
|
|
NM_144988.4(ALG14):c.21A>G (p.Leu7=)
|
rs1218214553
|
|
NM_144988.4(ALG14):c.234C>A (p.Ala78=)
|
|
|
NM_144988.4(ALG14):c.262C>A (p.Arg88=)
|
|
|
NM_144988.4(ALG14):c.288+18_288+23del
|
|
|
NM_144988.4(ALG14):c.288+9C>T
|
|
|
NM_144988.4(ALG14):c.289-4C>T
|
rs767492224
|
|
NM_144988.4(ALG14):c.393C>T (p.Pro131=)
|
rs2100771798
|
|
NM_144988.4(ALG14):c.396A>G (p.Leu132=)
|
rs2100771768
|
|
NM_144988.4(ALG14):c.420+14T>C
|
|
|
NM_144988.4(ALG14):c.420+15C>G
|
|
|
NM_144988.4(ALG14):c.420+17C>T
|
|
|
NM_144988.4(ALG14):c.420+19A>G
|
|
|
NM_144988.4(ALG14):c.423G>A (p.Val141=)
|
|
|
NM_144988.4(ALG14):c.474C>T (p.Leu158=)
|
|
|
NM_144988.4(ALG14):c.531T>G (p.Arg177=)
|
|
|
NM_144988.4(ALG14):c.600G>A (p.Pro200=)
|
|
|
NM_144988.4(ALG14):c.621C>T (p.Pro207=)
|
|
|
NM_144988.4(ALG14):c.633C>T (p.Tyr211=)
|
|
|
NM_144988.4(ALG14):c.6G>A (p.Val2=)
|
|
|
NM_173660.5(DOK7):c.100+11C>G
|
|
|
NM_173660.5(DOK7):c.100+11C>T
|
|
|
NM_173660.5(DOK7):c.100+12G>A
|
|
|
NM_173660.5(DOK7):c.100+14G>C
|
|
|
NM_173660.5(DOK7):c.100+15C>A
|
|
|
NM_173660.5(DOK7):c.100+17G>A
|
|
|
NM_173660.5(DOK7):c.100+21_100+36del
|
|
|
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
|
|
|
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
|
|
|
NM_173660.5(DOK7):c.101-12C>T
|
|
|
NM_173660.5(DOK7):c.101-15C>T
|
|
|
NM_173660.5(DOK7):c.101-17G>A
|
|
|
NM_173660.5(DOK7):c.101-18C>T
|
|
|
NM_173660.5(DOK7):c.101-20G>A
|
|
|
NM_173660.5(DOK7):c.101-8C>G
|
|
|
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
|
|
|
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
|
|
|
NM_173660.5(DOK7):c.1026T>G (p.Thr342=)
|
rs1437244628
|
|
NM_173660.5(DOK7):c.1035C>T (p.His345=)
|
|
|
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
|
|
|
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
|
|
|
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
|
|
|
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
|
|
|
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
|
|
|
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
|
|
|
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
|
|
|
NM_173660.5(DOK7):c.1068G>T (p.Ala356=)
|
rs372407972
|
|
NM_173660.5(DOK7):c.1080G>T (p.Leu360=)
|
rs2109418743
|
|
NM_173660.5(DOK7):c.111G>A (p.Leu37=)
|
rs2109335875
|
|
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
|
|
|
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
|
|
|
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
|
|
|
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
|
|
|
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
|
|
|
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
|
|
|
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
|
|
|
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
|
|
|
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
|
|
|
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
|
|
|
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
|
|
|
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)
|
rs149525610
|
|
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
|
|
|
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
|
|
|
NM_173660.5(DOK7):c.1179C>G (p.Val393=)
|
rs138797230
|
|
NM_173660.5(DOK7):c.1179C>T (p.Val393=)
|
rs138797230
|
|
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
|
|
|
NM_173660.5(DOK7):c.1188G>A (p.Gln396=)
|
rs1577183241
|
|
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
|
|
|
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
|
|
|
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
|
|
|
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
|
|
|
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
|
|
|
NM_173660.5(DOK7):c.1227C>A (p.Arg409=)
|
rs762828158
|
|
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
|
|
|
NM_173660.5(DOK7):c.1236C>T (p.Cys412=)
|
rs556834250
|
|
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
|
|
|
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
|
|
|
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
|
|
|
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
|
|
|
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
|
|
|
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
|
|
|
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
|
|
|
NM_173660.5(DOK7):c.1263C>A (p.Pro421=)
|
rs761693255
|
|
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
|
|
|
NM_173660.5(DOK7):c.1263C>T (p.Pro421=)
|
rs761693255
|
|
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
|
|
|
NM_173660.5(DOK7):c.1278C>G (p.Pro426=)
|
rs139468087
|
|
NM_173660.5(DOK7):c.1287T>C (p.Ser429=)
|
rs1255756275
|
|
NM_173660.5(DOK7):c.1296G>A (p.Arg432=)
|
rs1288310207
|
|
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
|
|
|
NM_173660.5(DOK7):c.1305C>G (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1305C>T (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
|
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
|
|
|
NM_173660.5(DOK7):c.1323G>A (p.Gly441=)
|
rs755615582
|
|
NM_173660.5(DOK7):c.1329C>G (p.Pro443=)
|
rs768213796
|
|
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
|
|
|
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
|
|
|
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
|
|
|
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
|
|
|
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
|
|
|
NM_173660.5(DOK7):c.1356G>C (p.Arg452=)
|
rs1728663876
|
|
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
|
|
|
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
|
|
|
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
|
|
|
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
|
|
|
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
|
|
|
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
|
|
|
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
|
|
|
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
|
|
|
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
|
|
|
NM_173660.5(DOK7):c.1416C>T (p.Gly472=)
|
rs769793776
|
|
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
|
|
|
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
|
|
|
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
|
|
|
NM_173660.5(DOK7):c.1458G>T (p.Pro486=)
|
rs763843300
|
|
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
|
|
|
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
|
|
|
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
|
|
|
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
|
|
|
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
|
|
|
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
|
|
|
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
|
|
|
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
|
|
|
NM_173660.5(DOK7):c.1508dup (p.Pro504fs)
|
rs773220689
|
|
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
|
|
|
NM_173660.5(DOK7):c.159G>A (p.Glu53=)
|
rs1008787863
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly)
|
rs550137245
|
|
NM_173660.5(DOK7):c.168C>T (p.Ser56=)
|
rs2109336068
|
|
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
|
|
|
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
|
|
|
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
|
|
|
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
|
|
|
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
|
|
|
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
|
|
|
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.27C>A (p.Gly9=)
|
rs768798756
|
|
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
|
|
|
NM_173660.5(DOK7):c.288C>T (p.Ala96=)
|
rs890259305
|
|
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
|
|
|
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
|
|
|
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
|
|
|
NM_173660.5(DOK7):c.30G>A (p.Gln10=)
|
rs1341926638
|
|
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
|
|
|
NM_173660.5(DOK7):c.331+10G>A
|
|
|
NM_173660.5(DOK7):c.331+11GGGGCC[3]
|
rs745546967
|
|
NM_173660.5(DOK7):c.331+14G>T
|
|
|
NM_173660.5(DOK7):c.331+15C>G
|
|
|
NM_173660.5(DOK7):c.331+15_331+16del
|
|
|
NM_173660.5(DOK7):c.331+17G>A
|
|
|
NM_173660.5(DOK7):c.331+18G>A
|
|
|
NM_173660.5(DOK7):c.331+20_331+25del
|
|
|
NM_173660.5(DOK7):c.331+7G>A
|
|
|
NM_173660.5(DOK7):c.332-107_332-4del
|
rs1727060359
|
|
NM_173660.5(DOK7):c.332-12G>A
|
|
|
NM_173660.5(DOK7):c.332-12G>C
|
|
|
NM_173660.5(DOK7):c.332-15C>T
|
|
|
NM_173660.5(DOK7):c.332-17G>A
|
|
|
NM_173660.5(DOK7):c.332-4G>C
|
|
|
NM_173660.5(DOK7):c.332-7C>A
|
|
|
NM_173660.5(DOK7):c.332-95_332-18del
|
|
|
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
|
|
|
NM_173660.5(DOK7):c.333G>A (p.Val111=)
|
rs1197491516
|
|
NM_173660.5(DOK7):c.336T>C (p.His112=)
|
|
|
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
|
|
|
NM_173660.5(DOK7):c.363C>T (p.Gly121=)
|
rs1427150506
|
|
NM_173660.5(DOK7):c.366C>G (p.Thr122=)
|
rs1365607498
|
|
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
|
|
|
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
|
|
|
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
|
|
|
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
|
|
|
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
|
|
|
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
|
|
|
NM_173660.5(DOK7):c.399C>T (p.Leu133=)
|
rs2109343497
|
|
NM_173660.5(DOK7):c.411C>A (p.Val137=)
|
|
|
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
|
|
|
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
|
|
|
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
|
|
|
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
|
|
|
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
|
|
|
NM_173660.5(DOK7):c.45C>T (p.Asp15=)
|
rs759054772
|
|
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
|
|
|
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
|
|
|
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
|
|
|
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
|
|
|
NM_173660.5(DOK7):c.501C>T (p.Phe167=)
|
rs1374098055
|
|
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
|
|
|
NM_173660.5(DOK7):c.532+13G>A
|
|
|
NM_173660.5(DOK7):c.532+15G>A
|
|
|
NM_173660.5(DOK7):c.532+20G>A
|
rs2109344000
|
|
NM_173660.5(DOK7):c.532+8C>T
|
|
|
NM_173660.5(DOK7):c.533-15G>C
|
|
|
NM_173660.5(DOK7):c.533-16T>C
|
|
|
NM_173660.5(DOK7):c.533-19C>T
|
|
|
NM_173660.5(DOK7):c.533-4G>A
|
|
|
NM_173660.5(DOK7):c.533-6C>T
|
rs1727716278
|
|
NM_173660.5(DOK7):c.533-8C>G
|
|
|
NM_173660.5(DOK7):c.533-9C>T
|
|
|
NM_173660.5(DOK7):c.54+11G>A
|
|
|
NM_173660.5(DOK7):c.54+13C>A
|
|
|
NM_173660.5(DOK7):c.54+16G>A
|
|
|
NM_173660.5(DOK7):c.54+20G>A
|
rs1480112817
|
|
NM_173660.5(DOK7):c.54+20del
|
rs1726078584
|
|
NM_173660.5(DOK7):c.54+21C>G
|
|
|
NM_173660.5(DOK7):c.54+21C>T
|
rs865893625
|
|
NM_173660.5(DOK7):c.54+21_54+22del
|
|
|
NM_173660.5(DOK7):c.54+21del
|
rs1170595407
|
|
NM_173660.5(DOK7):c.54+22G>A
|
rs1726079112
|
|
NM_173660.5(DOK7):c.54+22G>T
|
rs1726079112
|
|
NM_173660.5(DOK7):c.54+22_54+23insA
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insC
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insT
|
|
|
NM_173660.5(DOK7):c.54+23G>C
|
rs781051112
|
|
NM_173660.5(DOK7):c.54+23G>T
|
rs781051112
|
|
NM_173660.5(DOK7):c.54+23_54+24insCG
|
|
|
NM_173660.5(DOK7):c.54+23_54+24insT
|
|
|
NM_173660.5(DOK7):c.54+24G>A
|
|
|
NM_173660.5(DOK7):c.54+24G>C
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insA
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insC
|
|
|
NM_173660.5(DOK7):c.54+25G>A
|
rs769791490
|
|
NM_173660.5(DOK7):c.54+25G>C
|
|
|
NM_173660.5(DOK7):c.54+25G>T
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insA
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insC
|
rs767285554
|
|
NM_173660.5(DOK7):c.54+25_54+26insCG
|
rs906657133
|
|
NM_173660.5(DOK7):c.54+25_54+26insT
|
|
|
NM_173660.5(DOK7):c.54+26G>A
|
|
|
NM_173660.5(DOK7):c.54+26G>C
|
rs543525751
|
|
NM_173660.5(DOK7):c.54+26G>T
|
rs543525751
|
|
NM_173660.5(DOK7):c.54+26_54+27insA
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insAGGGG
|
rs1553844254
|
|
NM_173660.5(DOK7):c.54+26_54+27insC
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insT
|
|
|
NM_173660.5(DOK7):c.54+27G>A
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27G>C
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27G>T
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27_54+28insA
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insC
|
rs1282356351
|
|
NM_173660.5(DOK7):c.54+27_54+28insCG
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insT
|
|
|
NM_173660.5(DOK7):c.54+28G>A
|
|
|
NM_173660.5(DOK7):c.54+28G>C
|
rs772575255
|
|
NM_173660.5(DOK7):c.54+28G>T
|
rs772575255
|
|
NM_173660.5(DOK7):c.54+28_54+29insA
|
rs777859905
|
|
NM_173660.5(DOK7):c.54+28_54+29insC
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insCG
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insT
|
|
|
NM_173660.5(DOK7):c.54+29G>A
|
|
|
NM_173660.5(DOK7):c.54+29G>C
|
rs767030857
|
|
NM_173660.5(DOK7):c.54+29G>T
|
rs767030857
|
|
NM_173660.5(DOK7):c.54+29_54+30insA
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insC
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insT
|
|
|
NM_173660.5(DOK7):c.54+30G>A
|
rs562528761
|
|
NM_173660.5(DOK7):c.54+30G>T
|
rs562528761
|
|
NM_173660.5(DOK7):c.54+30_54+31insA
|
|
|
NM_173660.5(DOK7):c.54+31G>A
|
|
|
NM_173660.5(DOK7):c.54+31G>C
|
|
|
NM_173660.5(DOK7):c.54+31GGGCGC[3]
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insC
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insCGCG
|
|
|
NM_173660.5(DOK7):c.54+32G>T
|
|
|
NM_173660.5(DOK7):c.54+32_54+33insCGCGG
|
rs1485695721
|
|
NM_173660.5(DOK7):c.54+32_54+33insTG
|
|
|
NM_173660.5(DOK7):c.54+33G>A
|
|
|
NM_173660.5(DOK7):c.54+33G>C
|
rs943989420
|
|
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG
|
rs1553844286
|
|
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
|
|
|
NM_173660.5(DOK7):c.54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+34C>G
|
|
|
NM_173660.5(DOK7):c.54+34_54+37del
|
|
|
NM_173660.5(DOK7):c.54+34_54+38del
|
|
|
NM_173660.5(DOK7):c.54+34del
|
rs1726087779
|
|
NM_173660.5(DOK7):c.54+34dup
|
|
|
NM_173660.5(DOK7):c.54+36C>G
|
|
|
NM_173660.5(DOK7):c.54+36_54+37del
|
rs1289091767
|
|
NM_173660.5(DOK7):c.54+38G>C
|
|
|
NM_173660.5(DOK7):c.54+7G>A
|
|
|
NM_173660.5(DOK7):c.54+8_54+17dup
|
|
|
NM_173660.5(DOK7):c.54+9G>A
|
|
|
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
|
|
|
NM_173660.5(DOK7):c.549C>T (p.Phe183=)
|
rs1448680067
|
|
NM_173660.5(DOK7):c.55-12C>G
|
|
|
NM_173660.5(DOK7):c.55-13C>G
|
rs886038744
|
|
NM_173660.5(DOK7):c.55-13C>T
|
|
|
NM_173660.5(DOK7):c.55-15C>G
|
|
|
NM_173660.5(DOK7):c.55-16C>A
|
rs976572936
|
|
NM_173660.5(DOK7):c.55-17C>T
|
|
|
NM_173660.5(DOK7):c.55-18_55-17insA
|
|
|
NM_173660.5(DOK7):c.55-38G>A
|
|
|
NM_173660.5(DOK7):c.55-4G>A
|
|
|
NM_173660.5(DOK7):c.55-8C>T
|
rs2109312415
|
|
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
|
|
|
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
|
|
|
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
|
|
|
NM_173660.5(DOK7):c.570G>A (p.Glu190=)
|
rs962876610
|
|
NM_173660.5(DOK7):c.576C>T (p.Ile192=)
|
|
|
NM_173660.5(DOK7):c.588C>T (p.Phe196=)
|
rs149940009
|
|
NM_173660.5(DOK7):c.597C>A (p.Ile199=)
|
|
|
NM_173660.5(DOK7):c.600C>A (p.Val200=)
|
|
|
NM_173660.5(DOK7):c.603A>C (p.Arg201=)
|
|
|
NM_173660.5(DOK7):c.60G>A (p.Lys20=)
|
|
|
NM_173660.5(DOK7):c.612C>T (p.Ser204=)
|
rs2109370734
|
|
NM_173660.5(DOK7):c.615C>A (p.Pro205=)
|
|
|
NM_173660.5(DOK7):c.615C>G (p.Pro205=)
|
rs553239093
|
|
NM_173660.5(DOK7):c.615C>T (p.Pro205=)
|
rs553239093
|
|
NM_173660.5(DOK7):c.618C>A (p.Thr206=)
|
|
|
NM_173660.5(DOK7):c.621G>A (p.Lys207=)
|
|
|
NM_173660.5(DOK7):c.633G>T (p.Gly211=)
|
rs1577165754
|
|
NM_173660.5(DOK7):c.642G>A (p.Pro214=)
|
|
|
NM_173660.5(DOK7):c.642G>C (p.Pro214=)
|
rs746371931
|
|
NM_173660.5(DOK7):c.652+16T>G
|
|
|
NM_173660.5(DOK7):c.652+20C>G
|
|
|
NM_173660.5(DOK7):c.652+20C>T
|
|
|
NM_173660.5(DOK7):c.652+8T>C
|
|
|
NM_173660.5(DOK7):c.652+9G>A
|
|
|
NM_173660.5(DOK7):c.653-11_653-8del
|
|
|
NM_173660.5(DOK7):c.653-13C>T
|
|
|
NM_173660.5(DOK7):c.653-18G>A
|
|
|
NM_173660.5(DOK7):c.653-20G>A
|
|
|
NM_173660.5(DOK7):c.653-20G>C
|
|
|
NM_173660.5(DOK7):c.653-20del
|
|
|
NM_173660.5(DOK7):c.653-4A>G
|
rs1577171863
|
|
NM_173660.5(DOK7):c.653-5C>T
|
|
|
NM_173660.5(DOK7):c.657A>G (p.Pro219=)
|
|
|
NM_173660.5(DOK7):c.657A>T (p.Pro219=)
|
|
|
NM_173660.5(DOK7):c.663C>T (p.Pro221=)
|
|
|
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
|
|
|
NM_173660.5(DOK7):c.66G>A (p.Arg22=)
|
rs1726093217
|
|
NM_173660.5(DOK7):c.678T>G (p.Thr226=)
|
|
|
NM_173660.5(DOK7):c.690T>G (p.Arg230=)
|
rs1577172106
|
|
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
|
|
|
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
|
|
|
NM_173660.5(DOK7):c.6C>T (p.Thr2=)
|
|
|
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
|
|
|
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
|
|
|
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
|
|
|
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
|
|
|
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
|
|
|
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
|
|
|
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)
|
rs376251309
|
|
NM_173660.5(DOK7):c.753G>C (p.Ala251=)
|
rs59932476
|
|
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
|
|
|
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
|
|
|
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
|
|
|
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
|
|
|
NM_173660.5(DOK7):c.772+13G>A
|
|
|
NM_173660.5(DOK7):c.772+14C>T
|
rs201023802
|
|
NM_173660.5(DOK7):c.772+14del
|
|
|
NM_173660.5(DOK7):c.772+8C>G
|
|
|
NM_173660.5(DOK7):c.773-10T>G
|
|
|
NM_173660.5(DOK7):c.773-11C>T
|
|
|
NM_173660.5(DOK7):c.773-13T>C
|
|
|
NM_173660.5(DOK7):c.773-15C>G
|
|
|
NM_173660.5(DOK7):c.773-15C>T
|
|
|
NM_173660.5(DOK7):c.773-19G>T
|
|
|
NM_173660.5(DOK7):c.773-7_773-4del
|
|
|
NM_173660.5(DOK7):c.773-9C>G
|
|
|
NM_173660.5(DOK7):c.773-9C>T
|
rs376190589
|
|
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly)
|
rs142821143
|
|
NM_173660.5(DOK7):c.783C>G (p.Arg261=)
|
rs1366900661
|
|
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
|
|
|
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
|
|
|
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
|
|
|
NM_173660.5(DOK7):c.819G>A (p.Leu273=)
|
|
|
NM_173660.5(DOK7):c.825C>G (p.Val275=)
|
|
|
NM_173660.5(DOK7):c.840G>C (p.Arg280=)
|
|
|
NM_173660.5(DOK7):c.855A>G (p.Pro285=)
|
|
|
NM_173660.5(DOK7):c.858G>A (p.Glu286=)
|
|
|
NM_173660.5(DOK7):c.861A>G (p.Gln287=)
|
|
|
NM_173660.5(DOK7):c.867G>A (p.Ser289=)
|
|
|
NM_173660.5(DOK7):c.867G>C (p.Ser289=)
|
rs145862647
|
|
NM_173660.5(DOK7):c.870G>A (p.Ser290=)
|
rs149019681
|
|
NM_173660.5(DOK7):c.870G>C (p.Ser290=)
|
|
|
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
|
|
|
NM_173660.5(DOK7):c.87G>A (p.Pro29=)
|
|
|
NM_173660.5(DOK7):c.882G>C (p.Thr294=)
|
|
|
NM_173660.5(DOK7):c.891G>A (p.Glu297=)
|
|
|
NM_173660.5(DOK7):c.894G>T (p.Gly298=)
|
|
|
NM_173660.5(DOK7):c.906A>G (p.Ala302=)
|
|
|
NM_173660.5(DOK7):c.918C>G (p.Ala306=)
|
rs141947707
|
|
NM_173660.5(DOK7):c.921C>G (p.Ala307=)
|
|
|
NM_173660.5(DOK7):c.924G>C (p.Gly308=)
|
|
|
NM_173660.5(DOK7):c.927A>G (p.Glu309=)
|
|
|
NM_173660.5(DOK7):c.93C>T (p.Pro31=)
|
|
|
NM_173660.5(DOK7):c.946A>C (p.Arg316=)
|
rs898373845
|
|
NM_173660.5(DOK7):c.956C>A (p.Pro319His)
|
rs376334067
|
|
NM_173660.5(DOK7):c.957C>T (p.Pro319=)
|
rs777573281
|
|
NM_173660.5(DOK7):c.960G>A (p.Lys320=)
|
|
|
NM_173660.5(DOK7):c.963G>A (p.Pro321=)
|
rs112624739
|
|
NM_173660.5(DOK7):c.963G>T (p.Pro321=)
|
|
|
NM_173660.5(DOK7):c.964C>T (p.Leu322=)
|
|
|
NM_173660.5(DOK7):c.96G>A (p.Val32=)
|
|
|
NM_173660.5(DOK7):c.96G>T (p.Val32=)
|
|
|
NM_173660.5(DOK7):c.973C>A (p.Arg325=)
|
rs376280466
|
|
NM_173660.5(DOK7):c.987G>A (p.Glu329=)
|
|
|
NM_173660.5(DOK7):c.993C>G (p.Gly331=)
|
|
|
NM_173660.5(DOK7):c.999G>A (p.Gln333=)
|
|
|
NM_198576.4(AGRN):c.1011G>A (p.Thr337=)
|
|
|
NM_198576.4(AGRN):c.1017C>T (p.Arg339=)
|
|
|
NM_198576.4(AGRN):c.1033C>A (p.Arg345=)
|
|
|
NM_198576.4(AGRN):c.1053C>T (p.Ala351=)
|
|
|
NM_198576.4(AGRN):c.1068G>T (p.Val356=)
|
|
|
NM_198576.4(AGRN):c.1092C>T (p.Tyr364=)
|
rs1436268521
|
|
NM_198576.4(AGRN):c.1119G>A (p.Ser373=)
|
|
|
NM_198576.4(AGRN):c.1119G>C (p.Ser373=)
|
|
|
NM_198576.4(AGRN):c.1140C>T (p.Leu380=)
|
|
|
NM_198576.4(AGRN):c.1173T>C (p.Gly391=)
|
|
|
NM_198576.4(AGRN):c.1177+11C>A
|
rs746403405
|
|
NM_198576.4(AGRN):c.1177+13C>T
|
|
|
NM_198576.4(AGRN):c.1177+15C>G
|
rs770405970
|
|
NM_198576.4(AGRN):c.1178-7_1178-6inv
|
|
|
NM_198576.4(AGRN):c.1216C>T (p.Leu406=)
|
rs769507883
|
|
NM_198576.4(AGRN):c.1245C>G (p.Ser415=)
|
|
|
NM_198576.4(AGRN):c.1251C>T (p.Asp417=)
|
|
|
NM_198576.4(AGRN):c.1254C>G (p.Arg418=)
|
|
|
NM_198576.4(AGRN):c.1275C>T (p.Tyr425=)
|
|
|
NM_198576.4(AGRN):c.1329G>A (p.Gln443=)
|
rs1644960998
|
|
NM_198576.4(AGRN):c.1338G>A (p.Glu446=)
|
|
|
NM_198576.4(AGRN):c.1359C>T (p.Ile453=)
|
|
|
NM_198576.4(AGRN):c.1380G>C (p.Pro460=)
|
|
|
NM_198576.4(AGRN):c.1384+11dup
|
rs753318299
|
|
NM_198576.4(AGRN):c.1384+7G>A
|
rs552044488
|
|
NM_198576.4(AGRN):c.1384+7G>C
|
rs552044488
|
|
NM_198576.4(AGRN):c.1385-16_1385-15del
|
rs200933055
|
|
NM_198576.4(AGRN):c.1385-19G>A
|
|
|
NM_198576.4(AGRN):c.1392C>T (p.Ala464=)
|
|
|
NM_198576.4(AGRN):c.1401A>G (p.Pro467=)
|
rs763998310
|
|
NM_198576.4(AGRN):c.1407C>T (p.Leu469=)
|
rs757288952
|
|
NM_198576.4(AGRN):c.1431G>A (p.Ala477=)
|
rs755387116
|
|
NM_198576.4(AGRN):c.144C>T (p.Thr48=)
|
rs1282970149
|
|
NM_198576.4(AGRN):c.1473G>T (p.Leu491=)
|
|
|
NM_198576.4(AGRN):c.1485G>C (p.Ser495=)
|
|
|
NM_198576.4(AGRN):c.1494C>T (p.Tyr498=)
|
rs772353280
|
|
NM_198576.4(AGRN):c.1536G>A (p.Ala512=)
|
rs747376278
|
|
NM_198576.4(AGRN):c.1554G>A (p.Thr518=)
|
|
|
NM_198576.4(AGRN):c.1563C>T (p.Thr521=)
|
rs1570205843
|
|
NM_198576.4(AGRN):c.1599C>T (p.Pro533=)
|
|
|
NM_198576.4(AGRN):c.159G>A (p.Glu53=)
|
rs2100555876
|
|
NM_198576.4(AGRN):c.1604-17T>C
|
rs2100645110
|
|
NM_198576.4(AGRN):c.1604-19G>C
|
rs778914116
|
|
NM_198576.4(AGRN):c.1614G>C (p.Gly538=)
|
rs2100645293
|
|
NM_198576.4(AGRN):c.1620C>T (p.Cys540=)
|
|
|
NM_198576.4(AGRN):c.1644C>T (p.Ala548=)
|
|
|
NM_198576.4(AGRN):c.1650C>G (p.Thr550=)
|
rs201719609
|
|
NM_198576.4(AGRN):c.1650C>T (p.Thr550=)
|
rs201719609
|
|
NM_198576.4(AGRN):c.1653G>A (p.Gly551=)
|
|
|
NM_198576.4(AGRN):c.165C>T (p.Leu55=)
|
|
|
NM_198576.4(AGRN):c.1707C>T (p.Ser569=)
|
|
|
NM_198576.4(AGRN):c.1719G>T (p.Thr573=)
|
rs150246085
|
|
NM_198576.4(AGRN):c.1731G>A (p.Glu577=)
|
|
|
NM_198576.4(AGRN):c.1764G>A (p.Gln588=)
|
rs2100645986
|
|
NM_198576.4(AGRN):c.1773G>A (p.Leu591=)
|
|
|
NM_198576.4(AGRN):c.1798+13C>T
|
|
|
NM_198576.4(AGRN):c.1798+9G>A
|
|
|
NM_198576.4(AGRN):c.1799-4G>A
|
rs1362676470
|
|
NM_198576.4(AGRN):c.189G>C (p.Thr63=)
|
rs1570124875
|
|
NM_198576.4(AGRN):c.1920C>T (p.Gly640=)
|
rs763833644
|
|
NM_198576.4(AGRN):c.1932G>A (p.Glu644=)
|
rs1645019549
|
|
NM_198576.4(AGRN):c.1941A>G (p.Glu647=)
|
|
|
NM_198576.4(AGRN):c.1944C>T (p.Ala648=)
|
|
|
NM_198576.4(AGRN):c.1968C>A (p.Ile656=)
|
rs770946661
|
|
NM_198576.4(AGRN):c.1968C>T (p.Ile656=)
|
|
|
NM_198576.4(AGRN):c.1974G>A (p.Glu658=)
|
rs1230399331
|
|
NM_198576.4(AGRN):c.1983A>G (p.Ala661=)
|
|
|
NM_198576.4(AGRN):c.1992C>T (p.Cys664=)
|
|
|
NM_198576.4(AGRN):c.1999+15G>A
|
|
|
NM_198576.4(AGRN):c.201+17C>T
|
rs2100556027
|
|
NM_198576.4(AGRN):c.201+18C>G
|
|
|
NM_198576.4(AGRN):c.201+19C>G
|
rs780017933
|
|
NM_198576.4(AGRN):c.201+19C>T
|
rs780017933
|
|
NM_198576.4(AGRN):c.202-6C>T
|
|
|
NM_198576.4(AGRN):c.2085C>T (p.Asp695=)
|
|
|
NM_198576.4(AGRN):c.2121C>T (p.Phe707=)
|
|
|
NM_198576.4(AGRN):c.2148+13C>T
|
rs1344311577
|
|
NM_198576.4(AGRN):c.2148+14C>T
|
|
|
NM_198576.4(AGRN):c.2149-18A>G
|
|
|
NM_198576.4(AGRN):c.2169C>T (p.Val723=)
|
|
|
NM_198576.4(AGRN):c.2190G>A (p.Glu730=)
|
|
|
NM_198576.4(AGRN):c.2199G>A (p.Lys733=)
|
|
|
NM_198576.4(AGRN):c.21G>T (p.Pro7=)
|
|
|
NM_198576.4(AGRN):c.2229C>T (p.Tyr743=)
|
|
|
NM_198576.4(AGRN):c.2235G>T (p.Ala745=)
|
rs542660796
|
|
NM_198576.4(AGRN):c.2254+15C>T
|
|
|
NM_198576.4(AGRN):c.2254+16G>C
|
rs114389542
|
|
NM_198576.4(AGRN):c.2254+18G>C
|
|
|
NM_198576.4(AGRN):c.2254+19G>A
|
|
|
NM_198576.4(AGRN):c.2254+7C>T
|
|
|
NM_198576.4(AGRN):c.2255-11C>T
|
|
|
NM_198576.4(AGRN):c.2255-16G>A
|
|
|
NM_198576.4(AGRN):c.2255-16G>T
|
rs779589340
|
|
NM_198576.4(AGRN):c.2255-17C>T
|
rs200841427
|
|
NM_198576.4(AGRN):c.2255-4G>A
|
rs1570215835
|
|
NM_198576.4(AGRN):c.225G>A (p.Lys75=)
|
|
|
NM_198576.4(AGRN):c.2286C>T (p.Ala762=)
|
rs1205105049
|
|
NM_198576.4(AGRN):c.2310C>G (p.Pro770=)
|
|
|
NM_198576.4(AGRN):c.231A>G (p.Lys77=)
|
rs1446604818
|
|
NM_198576.4(AGRN):c.2325G>A (p.Gln775=)
|
|
|
NM_198576.4(AGRN):c.2372-7C>T
|
rs1384767916
|
|
NM_198576.4(AGRN):c.2376C>T (p.Ala792=)
|
rs1570217131
|
|
NM_198576.4(AGRN):c.2391C>G (p.Pro797=)
|
rs892393732
|
|
NM_198576.4(AGRN):c.2406C>A (p.Gly802=)
|
rs75774767
|
|
NM_198576.4(AGRN):c.2421A>G (p.Pro807=)
|
|
|
NM_198576.4(AGRN):c.2424C>T (p.Ala808=)
|
rs1553176121
|
|
NM_198576.4(AGRN):c.243C>A (p.Ala81=)
|
rs1395381200
|
|
NM_198576.4(AGRN):c.2457G>A (p.Gly819=)
|
rs112039851
|
|
NM_198576.4(AGRN):c.2457G>C (p.Gly819=)
|
rs112039851
|
|
NM_198576.4(AGRN):c.2466G>A (p.Arg822=)
|
|
|
NM_198576.4(AGRN):c.2475C>T (p.Arg825=)
|
|
|
NM_198576.4(AGRN):c.24C>T (p.Gly8=)
|
|
|
NM_198576.4(AGRN):c.2514C>T (p.Thr838=)
|
rs199577370
|
|
NM_198576.4(AGRN):c.2517T>C (p.Asp839=)
|
rs1645065952
|
|
NM_198576.4(AGRN):c.2536+14C>T
|
rs1293258104
|
|
NM_198576.4(AGRN):c.2537-11T>A
|
rs2100655297
|
|
NM_198576.4(AGRN):c.2537-13A>G
|
|
|
NM_198576.4(AGRN):c.2538C>T (p.Pro846=)
|
rs376387543
|
|
NM_198576.4(AGRN):c.2562C>G (p.Ala854=)
|
|
|
NM_198576.4(AGRN):c.2601G>C (p.Ser867=)
|
rs144794590
|
|
NM_198576.4(AGRN):c.2601G>T (p.Ser867=)
|
rs144794590
|
|
NM_198576.4(AGRN):c.2619T>C (p.Ala873=)
|
|
|
NM_198576.4(AGRN):c.2637G>A (p.Gln879=)
|
rs1267005027
|
|
NM_198576.4(AGRN):c.264C>T (p.Gly88=)
|
|
|
NM_198576.4(AGRN):c.2655C>G (p.Ala885=)
|
|
|
NM_198576.4(AGRN):c.2670C>T (p.Gly890=)
|
rs1019506413
|
|
NM_198576.4(AGRN):c.2680+10G>A
|
|
|
NM_198576.4(AGRN):c.2681-18C>T
|
|
|
NM_198576.4(AGRN):c.2681-7G>T
|
rs1557709524
|
|
NM_198576.4(AGRN):c.2694T>C (p.Pro898=)
|
rs2100656637
|
|
NM_198576.4(AGRN):c.2697G>A (p.Ala899=)
|
|
|
NM_198576.4(AGRN):c.2724C>T (p.Phe908=)
|
|
|
NM_198576.4(AGRN):c.2772G>A (p.Pro924=)
|
|
|
NM_198576.4(AGRN):c.2799T>A (p.Ala933=)
|
rs1286031168
|
|
NM_198576.4(AGRN):c.27G>A (p.Pro9=)
|
rs1360432726
|
|
NM_198576.4(AGRN):c.2805+12G>A
|
|
|
NM_198576.4(AGRN):c.2805+7G>T
|
|
|
NM_198576.4(AGRN):c.2805+9T>G
|
|
|
NM_198576.4(AGRN):c.2806-14G>A
|
|
|
NM_198576.4(AGRN):c.2806-15T>C
|
rs2100657449
|
|
NM_198576.4(AGRN):c.2806-18C>T
|
|
|
NM_198576.4(AGRN):c.2806-5C>T
|
rs200385841
|
|
NM_198576.4(AGRN):c.2806-6C>T
|
rs1570221889
|
|
NM_198576.4(AGRN):c.2808C>G (p.Val936=)
|
|
|
NM_198576.4(AGRN):c.2859C>T (p.Ile953=)
|
|
|
NM_198576.4(AGRN):c.2877G>A (p.Leu959=)
|
|
|
NM_198576.4(AGRN):c.2877G>T (p.Leu959=)
|
|
|
NM_198576.4(AGRN):c.2883C>T (p.Ile961=)
|
rs1243145715
|
|
NM_198576.4(AGRN):c.2889C>T (p.Ile963=)
|
|
|
NM_198576.4(AGRN):c.288C>T (p.Gly96=)
|
|
|
NM_198576.4(AGRN):c.28C>T (p.Leu10=)
|
rs1226970553
|
|
NM_198576.4(AGRN):c.2904G>A (p.Pro968=)
|
rs761226422
|
|
NM_198576.4(AGRN):c.2904G>C (p.Pro968=)
|
rs761226422
|
|
NM_198576.4(AGRN):c.2911+12C>T
|
|
|
NM_198576.4(AGRN):c.2922T>C (p.Ala974=)
|
|
|
NM_198576.4(AGRN):c.2925C>T (p.Pro975=)
|
|
|
NM_198576.4(AGRN):c.2937G>A (p.Pro979=)
|
rs752408613
|
|
NM_198576.4(AGRN):c.2943T>C (p.Ser981=)
|
rs1645095961
|
|
NM_198576.4(AGRN):c.2949C>G (p.Ser983=)
|
rs757512885
|
|
NM_198576.4(AGRN):c.2949C>T (p.Ser983=)
|
rs757512885
|
|
NM_198576.4(AGRN):c.2967A>G (p.Pro989=)
|
|
|
NM_198576.4(AGRN):c.3015C>T (p.Pro1005=)
|
rs547720389
|
|
NM_198576.4(AGRN):c.3081T>G (p.Thr1027=)
|
|
|
NM_198576.4(AGRN):c.3117G>C (p.Leu1039=)
|
|
|
NM_198576.4(AGRN):c.3120G>A (p.Thr1040=)
|
rs747197185
|
|
NM_198576.4(AGRN):c.3120G>C (p.Thr1040=)
|
rs747197185
|
|
NM_198576.4(AGRN):c.3129C>A (p.Pro1043=)
|
rs1570224825
|
|
NM_198576.4(AGRN):c.3131C>T (p.Thr1044Met)
|
|
|
NM_198576.4(AGRN):c.3153C>T (p.Ser1051=)
|
rs1367992401
|
|
NM_198576.4(AGRN):c.3162G>C (p.Ala1054=)
|
|
|
NM_198576.4(AGRN):c.318G>A (p.Gln106=)
|
|
|
NM_198576.4(AGRN):c.3211C>T (p.Leu1071=)
|
|
|
NM_198576.4(AGRN):c.3251-12G>C
|
|
|
NM_198576.4(AGRN):c.3255C>A (p.Leu1085=)
|
rs775823409
|
|
NM_198576.4(AGRN):c.3255C>G (p.Leu1085=)
|
|
|
NM_198576.4(AGRN):c.3318C>T (p.Tyr1106=)
|
rs2100661340
|
|
NM_198576.4(AGRN):c.3389-16T>C
|
|
|
NM_198576.4(AGRN):c.3399G>A (p.Val1133=)
|
|
|
NM_198576.4(AGRN):c.339G>A (p.Arg113=)
|
rs1325478476
|
|
NM_198576.4(AGRN):c.3412C>T (p.Leu1138=)
|
|
|
NM_198576.4(AGRN):c.3418C>T (p.Leu1140=)
|
|
|
NM_198576.4(AGRN):c.3426C>T (p.Gly1142=)
|
|
|
NM_198576.4(AGRN):c.3435C>T (p.Gly1145=)
|
rs1231692850
|
|
NM_198576.4(AGRN):c.3447C>T (p.Phe1149=)
|
rs771731587
|
|
NM_198576.4(AGRN):c.3486C>T (p.Phe1162=)
|
rs752179442
|
|
NM_198576.4(AGRN):c.3489G>C (p.Gly1163=)
|
|
|
NM_198576.4(AGRN):c.3501G>A (p.Arg1167=)
|
rs745963689
|
|
NM_198576.4(AGRN):c.3504C>T (p.Ser1168=)
|
|
|
NM_198576.4(AGRN):c.3516+13C>T
|
|
|
NM_198576.4(AGRN):c.3516+19C>A
|
|
|
NM_198576.4(AGRN):c.3516+9G>A
|
|
|
NM_198576.4(AGRN):c.3525C>T (p.Asp1175=)
|
rs1157889544
|
|
NM_198576.4(AGRN):c.3561G>C (p.Arg1187=)
|
|
|
NM_198576.4(AGRN):c.3580C>T (p.Leu1194=)
|
|
|
NM_198576.4(AGRN):c.3585G>A (p.Gly1195=)
|
rs2100665007
|
|
NM_198576.4(AGRN):c.3597C>T (p.Ser1199=)
|
|
|
NM_198576.4(AGRN):c.3621C>T (p.His1207=)
|
|
|
NM_198576.4(AGRN):c.3631+10G>C
|
rs1645139691
|
|
NM_198576.4(AGRN):c.3631+8C>T
|
rs1222277685
|
|
NM_198576.4(AGRN):c.3632-16G>C
|
|
|
NM_198576.4(AGRN):c.3632-4C>G
|
rs370599253
|
|
NM_198576.4(AGRN):c.3645G>A (p.Arg1215=)
|
rs2100665696
|
|
NM_198576.4(AGRN):c.3666C>A (p.Ala1222=)
|
|
|
NM_198576.4(AGRN):c.36G>A (p.Pro12=)
|
|
|
NM_198576.4(AGRN):c.36G>C (p.Pro12=)
|
rs1181200410
|
|
NM_198576.4(AGRN):c.3735G>A (p.Val1245=)
|
rs2100666417
|
|
NM_198576.4(AGRN):c.3751+10A>G
|
|
|
NM_198576.4(AGRN):c.3751+16C>T
|
|
|
NM_198576.4(AGRN):c.3751+17G>C
|
|
|
NM_198576.4(AGRN):c.3751+20C>A
|
|
|
NM_198576.4(AGRN):c.3751+7G>A
|
rs780934260
|
|
NM_198576.4(AGRN):c.3825T>C (p.Thr1275=)
|
|
|
NM_198576.4(AGRN):c.3864C>T (p.Ala1288=)
|
|
|
NM_198576.4(AGRN):c.3933C>T (p.Pro1311=)
|
|
|
NM_198576.4(AGRN):c.3936C>G (p.Thr1312=)
|
rs775175131
|
|
NM_198576.4(AGRN):c.3948C>T (p.Ser1316=)
|
|
|
NM_198576.4(AGRN):c.3957C>T (p.Pro1319=)
|
|
|
NM_198576.4(AGRN):c.3975C>A (p.Ala1325=)
|
rs769321224
|
|
NM_198576.4(AGRN):c.3984G>A (p.Gln1328=)
|
rs866622340
|
|
NM_198576.4(AGRN):c.4021G>A (p.Gly1341Arg)
|
rs372543866
|
|
NM_198576.4(AGRN):c.4044A>G (p.Ala1348=)
|
|
|
NM_198576.4(AGRN):c.405C>T (p.Asn135=)
|
rs1644426137
|
|
NM_198576.4(AGRN):c.4062C>T (p.Thr1354=)
|
rs2100669683
|
|
NM_198576.4(AGRN):c.4089C>T (p.Gly1363=)
|
|
|
NM_198576.4(AGRN):c.4106-11G>A
|
|
|
NM_198576.4(AGRN):c.4106-14G>T
|
|
|
NM_198576.4(AGRN):c.4106-18C>T
|
rs919606136
|
|
NM_198576.4(AGRN):c.4152C>T (p.Ala1384=)
|
|
|
NM_198576.4(AGRN):c.4158C>T (p.Pro1386=)
|
|
|
NM_198576.4(AGRN):c.4206G>A (p.Ala1402=)
|
|
|
NM_198576.4(AGRN):c.4225C>T (p.Leu1409=)
|
rs1181560428
|
|
NM_198576.4(AGRN):c.4227G>A (p.Leu1409=)
|
rs1378046777
|
|
NM_198576.4(AGRN):c.4236T>C (p.Asn1412=)
|
rs768957231
|
|
NM_198576.4(AGRN):c.4242C>T (p.Asn1414=)
|
|
|
NM_198576.4(AGRN):c.4248G>A (p.Arg1416=)
|
|
|
NM_198576.4(AGRN):c.4248G>C (p.Arg1416=)
|
rs1251852499
|
|
NM_198576.4(AGRN):c.4260C>T (p.Phe1420=)
|
rs985182576
|
|
NM_198576.4(AGRN):c.4287C>G (p.Arg1429=)
|
rs540390242
|
|
NM_198576.4(AGRN):c.4287C>T (p.Arg1429=)
|
rs540390242
|
|
NM_198576.4(AGRN):c.4298+16A>G
|
rs1218750135
|
|
NM_198576.4(AGRN):c.4298+16del
|
|
|
NM_198576.4(AGRN):c.4298+18G>A
|
rs531723104
|
|
NM_198576.4(AGRN):c.4298+18G>C
|
rs531723104
|
|
NM_198576.4(AGRN):c.4298+18G>T
|
|
|
NM_198576.4(AGRN):c.4298+21_4298+22insGGGGGAGGGGGGGG
|
|
|
NM_198576.4(AGRN):c.4298+21_4298+55del
|
rs1156907002
|
|
NM_198576.4(AGRN):c.4298+22_4298+58del
|
rs769295738
|
|
NM_198576.4(AGRN):c.4298+41_4298+88del
|
rs776309511
|
|
NM_198576.4(AGRN):c.4298+55_4298+56insGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG
|
|
|
NM_198576.4(AGRN):c.4298+55_4298+56insGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG
|
|
|
NM_198576.4(AGRN):c.4298+7GGGGA[3]
|
rs1333053420
|
|
NM_198576.4(AGRN):c.4298+9G>C
|
|
|
NM_198576.4(AGRN):c.4299-14G>C
|
|
|
NM_198576.4(AGRN):c.4299-5C>G
|
|
|
NM_198576.4(AGRN):c.4305C>T (p.Asp1435=)
|
rs1225701192
|
|
NM_198576.4(AGRN):c.4335T>C (p.Ser1445=)
|
|
|
NM_198576.4(AGRN):c.4344G>A (p.Pro1448=)
|
rs1321979292
|
|
NM_198576.4(AGRN):c.4356C>A (p.Gly1452=)
|
rs2100675922
|
|
NM_198576.4(AGRN):c.4398C>T (p.Gly1466=)
|
|
|
NM_198576.4(AGRN):c.4410G>T (p.Val1470=)
|
|
|
NM_198576.4(AGRN):c.4458C>T (p.Gly1486=)
|
rs1286044353
|
|
NM_198576.4(AGRN):c.4464C>T (p.Asn1488=)
|
|
|
NM_198576.4(AGRN):c.4488C>A (p.Gly1496=)
|
rs748221306
|
|
NM_198576.4(AGRN):c.4497C>T (p.Pro1499=)
|
|
|
NM_198576.4(AGRN):c.4506G>A (p.Gln1502=)
|
|
|
NM_198576.4(AGRN):c.4514+10_4514+29del
|
rs1645207851
|
|
NM_198576.4(AGRN):c.4514+16G>A
|
|
|
NM_198576.4(AGRN):c.4514+16_4514+17delinsCA
|
rs2100676874
|
|
NM_198576.4(AGRN):c.4514+20G>A
|
rs1335698044
|
|
NM_198576.4(AGRN):c.4514+8C>T
|
|
|
NM_198576.4(AGRN):c.4515-10C>T
|
rs2100677405
|
|
NM_198576.4(AGRN):c.4515-11C>T
|
|
|
NM_198576.4(AGRN):c.4515-17G>A
|
|
|
NM_198576.4(AGRN):c.4515-20G>A
|
rs370560913
|
|
NM_198576.4(AGRN):c.4533C>T (p.Phe1511=)
|
|
|
NM_198576.4(AGRN):c.4539C>T (p.Gly1513=)
|
|
|
NM_198576.4(AGRN):c.4546C>T (p.Leu1516=)
|
rs1645213379
|
|
NM_198576.4(AGRN):c.4567C>T (p.Leu1523=)
|
rs1470474265
|
|
NM_198576.4(AGRN):c.4588C>T (p.Leu1530=)
|
|
|
NM_198576.4(AGRN):c.4590G>A (p.Leu1530=)
|
|
|
NM_198576.4(AGRN):c.4626C>T (p.Gly1542=)
|
rs1420757030
|
|
NM_198576.4(AGRN):c.463+10G>T
|
|
|
NM_198576.4(AGRN):c.463+16C>T
|
|
|
NM_198576.4(AGRN):c.463+17del
|
|
|
NM_198576.4(AGRN):c.464-14T>G
|
|
|
NM_198576.4(AGRN):c.464-4C>T
|
rs1467185700
|
|
NM_198576.4(AGRN):c.4665C>T (p.Pro1555=)
|
|
|
NM_198576.4(AGRN):c.4683G>T (p.Gly1561=)
|
|
|
NM_198576.4(AGRN):c.4713G>A (p.Arg1571=)
|
rs752191523
|
|
NM_198576.4(AGRN):c.4716C>T (p.Phe1572=)
|
|
|
NM_198576.4(AGRN):c.4734C>A (p.Pro1578=)
|
|
|
NM_198576.4(AGRN):c.4744+15G>A
|
|
|
NM_198576.4(AGRN):c.4744+15G>C
|
|
|
NM_198576.4(AGRN):c.4744+20G>A
|
|
|
NM_198576.4(AGRN):c.4744+6_4744+26dup
|
|
|
NM_198576.4(AGRN):c.4745-11C>T
|
|
|
NM_198576.4(AGRN):c.4745-14C>T
|
|
|
NM_198576.4(AGRN):c.4745-16G>A
|
|
|
NM_198576.4(AGRN):c.4745-19C>T
|
|
|
NM_198576.4(AGRN):c.4745-8C>T
|
rs2100679597
|
|
NM_198576.4(AGRN):c.4752C>T (p.Thr1584=)
|
rs1645227009
|
|
NM_198576.4(AGRN):c.4773C>T (p.Pro1591=)
|
rs1043129674
|
|
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)
|
rs769494139
|
|
NM_198576.4(AGRN):c.4803G>A (p.Ala1601=)
|
|
|
NM_198576.4(AGRN):c.480C>T (p.His160=)
|
|
|
NM_198576.4(AGRN):c.4880-10C>T
|
rs779162517
|
|
NM_198576.4(AGRN):c.48C>T (p.Leu16=)
|
|
|
NM_198576.4(AGRN):c.4923C>T (p.Asn1641=)
|
|
|
NM_198576.4(AGRN):c.4926C>T (p.Gly1642=)
|
|
|
NM_198576.4(AGRN):c.4932C>G (p.Ser1644=)
|
rs1398658899
|
|
NM_198576.4(AGRN):c.4947A>G (p.Arg1649=)
|
|
|
NM_198576.4(AGRN):c.4959C>T (p.Thr1653=)
|
|
|
NM_198576.4(AGRN):c.4966C>A (p.Arg1656=)
|
rs145111679
|
|
NM_198576.4(AGRN):c.4966C>T (p.Arg1656Trp)
|
rs145111679
|
|
NM_198576.4(AGRN):c.4971C>T (p.Asp1657=)
|
|
|
NM_198576.4(AGRN):c.4976+14G>C
|
|
|
NM_198576.4(AGRN):c.4976+16G>A
|
|
|
NM_198576.4(AGRN):c.4977-14C>T
|
rs1460578627
|
|
NM_198576.4(AGRN):c.4977-18G>A
|
|
|
NM_198576.4(AGRN):c.5001G>A (p.Val1667=)
|
|
|
NM_198576.4(AGRN):c.5011C>A (p.Arg1671=)
|
|
|
NM_198576.4(AGRN):c.5022C>T (p.Ser1674=)
|
|
|
NM_198576.4(AGRN):c.511+19G>A
|
|
|
NM_198576.4(AGRN):c.5112C>T (p.Tyr1704=)
|
|
|
NM_198576.4(AGRN):c.512-11A>C
|
|
|
NM_198576.4(AGRN):c.512-14C>G
|
rs1557699288
|
|
NM_198576.4(AGRN):c.512-16C>G
|
|
|
NM_198576.4(AGRN):c.512-7G>C
|
|
|
NM_198576.4(AGRN):c.512-8C>T
|
rs1644904685
|
|
NM_198576.4(AGRN):c.513G>A (p.Ala171=)
|
|
|
NM_198576.4(AGRN):c.5141+8G>A
|
|
|
NM_198576.4(AGRN):c.5142-10T>C
|
|
|
NM_198576.4(AGRN):c.5142-11C>T
|
|
|
NM_198576.4(AGRN):c.5142-13C>T
|
|
|
NM_198576.4(AGRN):c.5142-9C>G
|
rs371589437
|
|
NM_198576.4(AGRN):c.5241G>A (p.Leu1747=)
|
|
|
NM_198576.4(AGRN):c.5253+16C>T
|
|
|
NM_198576.4(AGRN):c.5253+17G>A
|
rs544870363
|
|
NM_198576.4(AGRN):c.5253+17G>T
|
|
|
NM_198576.4(AGRN):c.5253+18C>T
|
rs189784653
|
|
NM_198576.4(AGRN):c.5253+19G>A
|
rs369428707
|
|
NM_198576.4(AGRN):c.5253+8C>T
|
|
|
NM_198576.4(AGRN):c.5253+9T>G
|
rs1328340844
|
|
NM_198576.4(AGRN):c.5254-10G>A
|
|
|
NM_198576.4(AGRN):c.5254-10G>T
|
rs778226267
|
|
NM_198576.4(AGRN):c.5254-11C>T
|
|
|
NM_198576.4(AGRN):c.5254-12G>A
|
|
|
NM_198576.4(AGRN):c.5254-16C>A
|
rs546981001
|
|
NM_198576.4(AGRN):c.5259G>C (p.Pro1753=)
|
rs771715098
|
|
NM_198576.4(AGRN):c.5271C>A (p.Leu1757=)
|
|
|
NM_198576.4(AGRN):c.5286G>A (p.Pro1762=)
|
|
|
NM_198576.4(AGRN):c.5307C>T (p.Pro1769=)
|
rs960113611
|
|
NM_198576.4(AGRN):c.5325C>T (p.Ala1775=)
|
rs1645280773
|
|
NM_198576.4(AGRN):c.5331T>C (p.Ala1777=)
|
|
|
NM_198576.4(AGRN):c.5334T>C (p.Ala1778=)
|
rs1553178299
|
|
NM_198576.4(AGRN):c.5337C>G (p.Ala1779=)
|
|
|
NM_198576.4(AGRN):c.5355C>T (p.Asp1785=)
|
rs372556198
|
|
NM_198576.4(AGRN):c.5370+11dup
|
rs1570248992
|
|
NM_198576.4(AGRN):c.5370+12C>T
|
|
|
NM_198576.4(AGRN):c.5370+17C>T
|
|
|
NM_198576.4(AGRN):c.5371-12C>T
|
|
|
NM_198576.4(AGRN):c.5371-15C>T
|
|
|
NM_198576.4(AGRN):c.5371-9G>C
|
|
|
NM_198576.4(AGRN):c.5382A>G (p.Gly1794=)
|
|
|
NM_198576.4(AGRN):c.5388C>A (p.Arg1796=)
|
rs1490186105
|
|
NM_198576.4(AGRN):c.5403G>A (p.Pro1801=)
|
|
|
NM_198576.4(AGRN):c.5409C>T (p.His1803=)
|
rs192987166
|
|
NM_198576.4(AGRN):c.5433G>A (p.Thr1811=)
|
rs564987392
|
|
NM_198576.4(AGRN):c.5469C>A (p.Gly1823=)
|
rs2100689188
|
|
NM_198576.4(AGRN):c.5475C>T (p.Pro1825=)
|
|
|
NM_198576.4(AGRN):c.5493C>T (p.Ser1831=)
|
|
|
NM_198576.4(AGRN):c.5523C>T (p.Cys1841=)
|
rs764192209
|
|
NM_198576.4(AGRN):c.5524C>T (p.Leu1842=)
|
rs1570250021
|
|
NM_198576.4(AGRN):c.5526G>A (p.Leu1842=)
|
|
|
NM_198576.4(AGRN):c.5541C>T (p.Phe1847=)
|
|
|
NM_198576.4(AGRN):c.5547A>C (p.Gly1849=)
|
rs569296472
|
|
NM_198576.4(AGRN):c.5550G>T (p.Pro1850=)
|
rs74045090
|
|
NM_198576.4(AGRN):c.5563+12A>C
|
rs757938137
|
|
NM_198576.4(AGRN):c.5563+12A>G
|
rs757938137
|
|
NM_198576.4(AGRN):c.5563+16G>C
|
rs1645295857
|
|
NM_198576.4(AGRN):c.5563+9G>A
|
rs1157313110
|
|
NM_198576.4(AGRN):c.5564-13G>T
|
|
|
NM_198576.4(AGRN):c.5583G>A (p.Ala1861=)
|
|
|
NM_198576.4(AGRN):c.5592G>C (p.Val1864=)
|
|
|
NM_198576.4(AGRN):c.5614C>A (p.Arg1872=)
|
|
|
NM_198576.4(AGRN):c.5616G>A (p.Arg1872=)
|
|
|
NM_198576.4(AGRN):c.5637C>T (p.Asn1879=)
|
|
|
NM_198576.4(AGRN):c.564G>A (p.Glu188=)
|
rs1412665148
|
|
NM_198576.4(AGRN):c.5651+16C>T
|
|
|
NM_198576.4(AGRN):c.5652-13C>G
|
|
|
NM_198576.4(AGRN):c.5652-14C>G
|
rs760795854
|
|
NM_198576.4(AGRN):c.5652-16G>T
|
|
|
NM_198576.4(AGRN):c.5652-16_5652-12dup
|
|
|
NM_198576.4(AGRN):c.5652-17T>C
|
rs2100699254
|
|
NM_198576.4(AGRN):c.5652-19C>T
|
|
|
NM_198576.4(AGRN):c.5652-4C>G
|
rs752622706
|
|
NM_198576.4(AGRN):c.5685G>A (p.Leu1895=)
|
rs1570259187
|
|
NM_198576.4(AGRN):c.5688C>T (p.Ser1896=)
|
rs998402421
|
|
NM_198576.4(AGRN):c.5694C>T (p.Arg1898=)
|
|
|
NM_198576.4(AGRN):c.5706G>A (p.Thr1902=)
|
|
|
NM_198576.4(AGRN):c.570G>A (p.Pro190=)
|
|
|
NM_198576.4(AGRN):c.5760A>G (p.Ala1920=)
|
|
|
NM_198576.4(AGRN):c.5820G>T (p.Val1940=)
|
|
|
NM_198576.4(AGRN):c.5835G>T (p.Val1945=)
|
|
|
NM_198576.4(AGRN):c.5868G>A (p.Val1956=)
|
|
|
NM_198576.4(AGRN):c.5876+13C>A
|
|
|
NM_198576.4(AGRN):c.5876+13C>T
|
|
|
NM_198576.4(AGRN):c.5876+15del
|
rs754506003
|
|
NM_198576.4(AGRN):c.5877-10G>T
|
rs1280841796
|
|
NM_198576.4(AGRN):c.5877-11dup
|
|
|
NM_198576.4(AGRN):c.5877-17C>G
|
|
|
NM_198576.4(AGRN):c.5877-18C>T
|
|
|
NM_198576.4(AGRN):c.5877-19C>T
|
rs1397093198
|
|
NM_198576.4(AGRN):c.5883G>A (p.Gln1961=)
|
rs1210257970
|
|
NM_198576.4(AGRN):c.588C>G (p.Val196=)
|
|
|
NM_198576.4(AGRN):c.5901G>A (p.Gln1967=)
|
|
|
NM_198576.4(AGRN):c.5937G>A (p.Pro1979=)
|
rs147367021
|
|
NM_198576.4(AGRN):c.5943C>T (p.Gly1981=)
|
|
|
NM_198576.4(AGRN):c.5980+14G>A
|
rs1347143869
|
|
NM_198576.4(AGRN):c.5981-16A>G
|
rs2100703621
|
|
NM_198576.4(AGRN):c.5985C>G (p.Gly1995=)
|
rs956106393
|
|
NM_198576.4(AGRN):c.6006C>T (p.Gly2002=)
|
|
|
NM_198576.4(AGRN):c.603G>C (p.Pro201=)
|
rs113184997
|
|
NM_198576.4(AGRN):c.603G>T (p.Pro201=)
|
rs113184997
|
|
NM_198576.4(AGRN):c.6048C>T (p.Cys2016=)
|
|
|
NM_198576.4(AGRN):c.6054G>T (p.Arg2018=)
|
rs754185719
|
|
NM_198576.4(AGRN):c.6078G>A (p.Pro2026=)
|
|
|
NM_198576.4(AGRN):c.6081G>A (p.Leu2027=)
|
|
|
NM_198576.4(AGRN):c.6090G>A (p.Leu2030=)
|
|
|
NM_198576.4(AGRN):c.6099C>T (p.Ala2033=)
|
|
|
NM_198576.4(AGRN):c.6115C>T (p.Leu2039=)
|
|
|
NM_198576.4(AGRN):c.6117G>A (p.Leu2039=)
|
|
|
NM_198576.4(AGRN):c.6129C>T (p.Pro2043=)
|
|
|
NM_198576.4(AGRN):c.636G>A (p.Ser212=)
|
|
|
NM_198576.4(AGRN):c.63G>C (p.Ala21=)
|
rs1293740544
|
|
NM_198576.4(AGRN):c.63G>T (p.Ala21=)
|
|
|
NM_198576.4(AGRN):c.642C>T (p.Ala214=)
|
|
|
NM_198576.4(AGRN):c.678G>A (p.Ala226=)
|
|
|
NM_198576.4(AGRN):c.696C>T (p.Arg232=)
|
|
|
NM_198576.4(AGRN):c.706C>T (p.Leu236=)
|
rs2100630284
|
|
NM_198576.4(AGRN):c.711C>G (p.Leu237=)
|
|
|
NM_198576.4(AGRN):c.717C>G (p.Arg239=)
|
|
|
NM_198576.4(AGRN):c.723G>A (p.Pro241=)
|
|
|
NM_198576.4(AGRN):c.727+11C>T
|
|
|
NM_198576.4(AGRN):c.727+16_727+33del
|
|
|
NM_198576.4(AGRN):c.727+19G>C
|
|
|
NM_198576.4(AGRN):c.727+20T>A
|
|
|
NM_198576.4(AGRN):c.733C>A (p.Arg245=)
|
rs750017108
|
|
NM_198576.4(AGRN):c.741C>T (p.Pro247=)
|
rs1401707372
|
|
NM_198576.4(AGRN):c.75C>G (p.Pro25=)
|
|
|
NM_198576.4(AGRN):c.792C>T (p.Asp264=)
|
|
|
NM_198576.4(AGRN):c.795G>A (p.Gly265=)
|
|
|
NM_198576.4(AGRN):c.804C>A (p.Ala268=)
|
rs113789806
|
|
NM_198576.4(AGRN):c.807G>C (p.Ser269=)
|
rs746098476
|
|
NM_198576.4(AGRN):c.81C>G (p.Ala27=)
|
|
|
NM_198576.4(AGRN):c.825C>G (p.Thr275=)
|
rs2100633242
|
|
NM_198576.4(AGRN):c.852C>T (p.Val284=)
|
|
|
NM_198576.4(AGRN):c.855C>T (p.Cys285=)
|
|
|
NM_198576.4(AGRN):c.864C>T (p.Asp288=)
|
rs1401768737
|
|
NM_198576.4(AGRN):c.885G>A (p.Glu295=)
|
rs765834882
|
|
NM_198576.4(AGRN):c.891G>A (p.Gln297=)
|
rs1570193830
|
|
NM_198576.4(AGRN):c.918G>A (p.Gln306=)
|
|
|
NM_198576.4(AGRN):c.93C>T (p.Cys31=)
|
rs1557679927
|
|
NM_198576.4(AGRN):c.952+16G>A
|
rs2100634035
|
|
NM_198576.4(AGRN):c.952+7G>T
|
|
|
NM_198576.4(AGRN):c.953-12C>T
|
|
|
NM_198576.4(AGRN):c.954C>T (p.Asp318=)
|
|
|
NM_198576.4(AGRN):c.963G>A (p.Gln321=)
|
|
|
NM_198576.4(AGRN):c.972C>T (p.Leu324=)
|
|
|