NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His)
|
rs142345927
|
0.00245
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)
|
rs150726107
|
0.00017
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro)
|
rs121912820
|
0.00010
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)
|
rs121908923
|
0.00005
|
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)
|
rs145955590
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter)
|
rs367570129
|
0.00004
|
NM_000080.4(CHRNE):c.971del (p.Ile324fs)
|
rs879255562
|
0.00003
|
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)
|
rs376039938
|
0.00003
|
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)
|
rs374155761
|
0.00003
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)
|
rs145356495
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met)
|
rs137852799
|
0.00001
|
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile)
|
rs137852804
|
0.00001
|
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)
|
rs374391312
|
0.00001
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
|
rs121909512
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
|
rs879253789
|
0.00001
|
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His)
|
rs863225046
|
0.00001
|
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)
|
rs121909509
|
0.00001
|
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)
|
rs1574066341
|
0.00001
|
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)
|
rs397515321
|
0.00001
|
NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly)
|
rs387907245
|
0.00001
|
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)
|
rs746136135
|
0.00001
|
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)
|
rs104894300
|
0.00001
|
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)
|
rs121909255
|
0.00001
|
NM_005677.4(COLQ):c.640G>T (p.Glu214Ter)
|
rs104893733
|
0.00001
|
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)
|
rs121908924
|
0.00001
|
NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln)
|
rs781908532
|
0.00001
|
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)
|
rs121912822
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1493C>T (p.Ser498Leu)
|
rs121912821
|
0.00001
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
rs121912817
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)
|
rs121912815
|
0.00001
|
NM_021815.5(SLC5A7):c.1082G>A (p.Arg361Gln)
|
rs147656110
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NC_000002.11:g.44559541_44571008del
|
|
|
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp)
|
rs137852808
|
|
NM_000079.4(CHRNA1):c.235-353G>A
|
rs2105350984
|
|
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
|
|
|
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu)
|
rs137852807
|
|
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)
|
rs137852801
|
|
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys)
|
rs137852798
|
|
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)
|
rs137852805
|
|
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)
|
rs137852803
|
|
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile)
|
rs137852800
|
|
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu)
|
rs137852806
|
|
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile)
|
rs137852802
|
|
NM_000080.4(CHRNE):c.1030del (p.His344fs)
|
rs879253723
|
|
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)
|
rs886037628
|
|
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)
|
rs121909517
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)
|
rs773526895
|
|
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg)
|
rs193919341
|
|
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)
|
rs121909513
|
|
NM_000080.4(CHRNE):c.344+1G>A
|
rs879253722
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.501-16G>A
|
rs879255563
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro)
|
rs121909510
|
|
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)
|
rs121909511
|
|
NM_000080.4(CHRNE):c.892_894del (p.Ser298del)
|
rs398122830
|
|
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)
|
rs121909515
|
|
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu)
|
rs121908553
|
|
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu)
|
rs80338951
|
|
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)
|
|
|
NM_000747.3(CHRNB1):c.821_1044del p.Gly274Aspfs
|
|
|
NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met)
|
rs137852811
|
|
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)
|
rs137852810
|
|
NM_000751.3(CHRND):c.188T>C (p.Leu63Pro)
|
rs121909508
|
|
NM_000751.3(CHRND):c.238G>A (p.Glu80Lys)
|
rs121909504
|
|
NM_000751.3(CHRND):c.812C>A (p.Pro271Gln)
|
rs121909503
|
|
NM_000751.3(CHRND):c.820_820+1del
|
rs879255564
|
|
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)
|
rs121909502
|
|
NM_000751.3(CHRND):c.901_1048-282del
|
|
|
NM_001130103.1(COL13A1):c.523-1delG
|
rs864309663
|
|
NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter)
|
rs1553352792
|
|
NM_001171613.2(PREPL):c.540del (p.Ile180_Met181insTer)
|
rs1057523690
|
|
NM_001171613.2(PREPL):c.94_97del (p.Val32fs)
|
rs1436090495
|
|
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr)
|
rs1574058076
|
|
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs)
|
rs1671535986
|
|
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu)
|
rs922548333
|
|
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala)
|
rs387906638
|
|
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys)
|
rs1558761046
|
|
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer)
|
rs1574066599
|
|
NM_001368882.1(COL13A1):c.1206del (p.Leu403fs)
|
rs864309662
|
|
NM_001368882.1(COL13A1):c.1619del (p.Asn540fs)
|
rs2135829327
|
|
NM_001368882.1(COL13A1):c.1884_1886delinsCCCT (p.Ser629fs)
|
rs2136077497
|
|
NM_001368882.1(COL13A1):c.675C>G (p.Tyr225Ter)
|
rs2134842358
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met)
|
rs387907244
|
|
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)
|
rs786205153
|
|
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)
|
rs1057517666
|
|
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)
|
rs1057517665
|
|
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)
|
rs786205885
|
|
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)
|
rs1555142142
|
|
NM_005055.5(RAPSN):c.193-15C>A
|
rs45547231
|
|
NM_005055.5(RAPSN):c.46dup (p.Leu16fs)
|
rs2153311780
|
|
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)
|
rs786200904
|
|
NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter)
|
rs104894301
|
|
NM_005592.4(MUSK):c.1031C>G (p.Pro344Arg)
|
rs387906803
|
|
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)
|
rs766640370
|
|
NM_005592.4(MUSK):c.2180C>T (p.Ala727Val)
|
rs397515450
|
|
NM_005592.4(MUSK):c.220dup (p.Arg74fs)
|
rs879255561
|
|
NM_005677.4(COLQ):c.1082del (p.Pro361fs)
|
rs769982050
|
|
NM_005677.4(COLQ):c.1298+3A>G
|
rs1384843815
|
|
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter)
|
rs104893734
|
|
NM_005677.4(COLQ):c.718G>T (p.Gly240Ter)
|
rs104893735
|
|
NM_005677.4(COLQ):c.788dup (p.Pro265fs)
|
rs759911990
|
|
NM_005677.4(COLQ):c.844A>T (p.Arg282Ter)
|
rs121908922
|
|
NM_005677.4:c.107_321del
|
|
|
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr)
|
rs2083996886
|
|
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His)
|
rs149046541
|
|
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu)
|
rs1567176190
|
|
NM_014231.5(VAMP1):c.128_129del (p.Glu43fs)
|
rs1565527140
|
|
NM_014231.5(VAMP1):c.129+1G>A
|
rs1565527137
|
|
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)
|
rs754046104
|
|
NM_014231.5(VAMP1):c.340del (p.Ile114fs)
|
rs746220436
|
|
NM_014231.5(VAMP1):c.51_64del (p.Gly18fs)
|
rs1565527239
|
|
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)
|
rs121912823
|
|
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)
|
rs121912818
|
|
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)
|
rs1404321683
|
|
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr)
|
rs75466054
|
|
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)
|
rs886039767
|
|
NM_021815.5(SLC5A7):c.143A>G (p.Asp48Gly)
|
rs886039768
|
|
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu)
|
rs886039765
|
|
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser)
|
rs886039766
|
|
NM_033087.4(ALG2):c.203T>G (p.Val68Gly)
|
rs730882051
|
|
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)
|
rs730882123
|
|
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)
|
rs1555794286
|
|
NM_144988.4(ALG14):c.194C>T (p.Pro65Leu)
|
rs730882050
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1143dup (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)
|
rs118203994
|
|
NM_173660.5(DOK7):c.548_551del (p.Phe183fs)
|
rs606231130
|
|
NM_173660.5(DOK7):c.55-1G>T
|
rs863223277
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|
NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
|
NM_177402.5(SYT2):c.1082_1096del (p.Asp361_Leu365del)
|
rs2149063996
|
|
NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro)
|
rs2149064005
|
|
NM_177402.5(SYT2):c.1112T>A (p.Ile371Lys)
|
rs1690318147
|
|
NM_177402.5(SYT2):c.1191del (p.Arg397fs)
|
rs2149063864
|
|
NM_177402.5(SYT2):c.465+1G>A
|
rs2149069543
|
|
NM_177402.5(SYT2):c.725dup (p.Val243fs)
|
rs2149068434
|
|
NM_177402.5(SYT2):c.805G>T (p.Glu269Ter)
|
rs2149067131
|
|
NM_177402.5(SYT2):c.920A>C (p.Asp307Ala)
|
rs587777781
|
|
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)
|
rs587777782
|
|
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter)
|
rs587777299
|
|
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg)
|
rs199476396
|
|
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)
|
rs587777298
|
|