NM_000169.3(GLA):c.1000-22C>T
|
rs2071228
|
0.33579
|
NM_000169.3(GLA):c.640-16A>G
|
rs2071397
|
0.12447
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2198C>T
|
rs35019768
|
0.12324
|
NM_000169.3(GLA):c.639+771C>T
|
rs5991933
|
0.07381
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2077C>T
|
rs146101947
|
0.06647
|
NM_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
NM_000169.3(GLA):c.640-136T>C
|
rs3027592
|
0.06552
|
NM_000169.3(GLA):c.639+68A>G
|
rs3027589
|
0.06497
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_000169.3(GLA):c.547+102A>G
|
rs3027588
|
0.04292
|
NM_000169.3(GLA):c.640-319A>G
|
rs3027590
|
0.04056
|
NM_000169.2(GLA):c.-105A>G
|
rs3027583
|
0.04009
|
NM_000169.3(GLA):c.547+190C>T
|
rs41311559
|
0.03222
|
NM_000169.3(GLA):c.639+739C>T
|
rs146083243
|
0.01996
|
NM_000169.2(GLA):c.-30G>A
|
rs3027584
|
0.00873
|
NM_000169.3(GLA):c.640-532G>A
|
rs143833648
|
0.00740
|
NM_001199973.2(RPL36A-HNRNPH2):c.301-3908A>C
|
rs185255090
|
0.00585
|
NM_000169.3(GLA):c.640-749C>T
|
rs148135742
|
0.00529
|
NM_000169.3(GLA):c.369+163A>G
|
rs370226383
|
0.00524
|
NM_000169.3(GLA):c.194+17A>G
|
rs2071226
|
0.00379
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2303T>C
|
rs191249601
|
0.00265
|
NM_000169.3(GLA):c.640-607G>T
|
rs185121865
|
0.00102
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00100
|
NM_000169.3(GLA):c.639+18G>A
|
rs189319122
|
0.00087
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000169.3(GLA):c.-44C>T
|
rs781906252
|
0.00025
|
NM_000169.3(GLA):c.195-1193C>T
|
rs887996815
|
0.00023
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
NM_000169.3(GLA):c.123C>T (p.Thr41=)
|
rs137902198
|
0.00017
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)
|
rs367658155
|
0.00006
|
NM_000169.3(GLA):c.619T>C (p.Tyr207His)
|
rs372416832
|
0.00005
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)
|
rs375661583
|
0.00004
|
NM_000169.3(GLA):c.639+796C>A
|
rs184705124
|
0.00004
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
NM_000169.3(GLA):c.416A>G (p.Asn139Ser)
|
rs138886989
|
0.00003
|
NM_000169.3(GLA):c.419A>C (p.Lys140Thr)
|
rs150228150
|
0.00003
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2319C>T
|
rs782094147
|
0.00003
|
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)
|
rs886044779
|
0.00002
|
NM_000169.3(GLA):c.1192G>A (p.Glu398Lys)
|
rs104894844
|
0.00002
|
NM_000169.3(GLA):c.122C>G (p.Thr41Ser)
|
rs782362194
|
0.00002
|
NM_000169.3(GLA):c.195T>C (p.Ser65=)
|
rs782803696
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)
|
rs727505060
|
0.00002
|
NM_000169.3(GLA):c.457G>A (p.Asp153Asn)
|
rs370299397
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000169.3(GLA):c.831G>C (p.Trp277Cys)
|
rs782196174
|
0.00002
|
NM_000169.3(GLA):c.1008C>T (p.Asn336=)
|
rs901454780
|
0.00001
|
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)
|
rs28935493
|
0.00001
|
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu)
|
rs1555984858
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
NM_000169.3(GLA):c.1127T>A (p.Val376Glu)
|
rs1555984793
|
0.00001
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000169.3(GLA):c.124A>C (p.Met42Leu)
|
rs797044613
|
0.00001
|
NM_000169.3(GLA):c.179C>T (p.Pro60Leu)
|
rs869312262
|
0.00001
|
NM_000169.3(GLA):c.208A>G (p.Met70Val)
|
rs1555986330
|
0.00001
|
NM_000169.3(GLA):c.212A>G (p.Glu71Gly)
|
rs781927744
|
0.00001
|
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)
|
rs782722577
|
0.00001
|
NM_000169.3(GLA):c.26A>G (p.His9Arg)
|
rs1555987214
|
0.00001
|
NM_000169.3(GLA):c.361G>A (p.Ala121Thr)
|
rs782197638
|
0.00001
|
NM_000169.3(GLA):c.547+397G>A
|
rs1220800965
|
0.00001
|
NM_000169.3(GLA):c.596T>C (p.Val199Ala)
|
rs781871113
|
0.00001
|
NM_000169.3(GLA):c.616C>G (p.Leu206Val)
|
rs730880448
|
0.00001
|
NM_000169.3(GLA):c.640-11T>C
|
rs782634293
|
0.00001
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)
|
rs104894841
|
0.00001
|
NM_000169.3(GLA):c.724A>G (p.Ile242Val)
|
rs397515873
|
0.00001
|
NM_000169.3(GLA):c.734G>T (p.Trp245Leu)
|
rs398123220
|
0.00001
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000169.2(GLA):c.-24T>G
|
rs1603048396
|
|
NM_000169.3(GLA):c.-1A>G
|
rs1555987235
|
|
NM_000169.3(GLA):c.1000-1G>A
|
rs869312204
|
|
NM_000169.3(GLA):c.1000-67del
|
rs2147471526
|
|
NM_000169.3(GLA):c.100A>G (p.Asn34Asp)
|
rs1555987150
|
|
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)
|
rs1555984869
|
|
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter)
|
rs398123197
|
|
NM_000169.3(GLA):c.101A>G (p.Asn34Ser)
|
rs104894835
|
|
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)
|
rs104894842
|
|
NM_000169.3(GLA):c.1023del (p.Glu341fs)
|
rs886044909
|
|
NM_000169.3(GLA):c.1024C>G (p.Arg342Gly)
|
rs104894843
|
|
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)
|
rs104894843
|
|
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)
|
rs398123198
|
|
NM_000169.3(GLA):c.1037del (p.Gly346fs)
|
rs879253990
|
|
NM_000169.3(GLA):c.1042dup (p.Ala348fs)
|
rs2147471207
|
|
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)
|
rs869312218
|
|
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser)
|
rs869312218
|
|
NM_000169.3(GLA):c.1048G>A (p.Ala350Thr)
|
rs1555984843
|
|
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)
|
rs886044829
|
|
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)
|
rs104894827
|
|
NM_000169.3(GLA):c.1068dup (p.Gln357fs)
|
rs2147471075
|
|
NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)
|
rs869312223
|
|
NM_000169.3(GLA):c.1072G>A (p.Glu358Lys)
|
rs797044774
|
|
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)
|
rs730880453
|
|
NM_000169.3(GLA):c.1077del (p.Ile359fs)
|
rs1569302692
|
|
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)
|
rs782598150
|
|
NM_000169.3(GLA):c.1081G>A (p.Gly361Arg)
|
rs28935494
|
|
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)
|
rs730880441
|
|
NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)
|
rs104894849
|
|
NM_000169.3(GLA):c.109G>A (p.Ala37Thr)
|
rs869312226
|
|
NM_000169.3(GLA):c.109G>C (p.Ala37Pro)
|
rs869312226
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)
|
rs144994244
|
|
NM_000169.3(GLA):c.1103C>T (p.Ala368Val)
|
|
|
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys)
|
rs1928127475
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)
|
rs869312227
|
|
NM_000169.3(GLA):c.1125_1140del (p.Val376fs)
|
rs876661347
|
|
NM_000169.3(GLA):c.112A>G (p.Arg38Gly)
|
rs730880446
|
|
NM_000169.3(GLA):c.1156C>T (p.Gln386Ter)
|
rs869312233
|
|
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)
|
rs797044775
|
|
NM_000169.3(GLA):c.1162C>T (p.Leu388Phe)
|
rs1569302626
|
|
NM_000169.3(GLA):c.1166C>T (p.Pro389Leu)
|
|
|
NM_000169.3(GLA):c.1166del (p.Pro389fs)
|
rs886044846
|
|
NM_000169.3(GLA):c.1188del (p.Tyr397fs)
|
rs879253955
|
|
NM_000169.3(GLA):c.118C>T (p.Pro40Ser)
|
rs104894831
|
|
NM_000169.3(GLA):c.119C>G (p.Pro40Arg)
|
rs398123199
|
|
NM_000169.3(GLA):c.1202C>G (p.Ser401Ter)
|
|
|
NM_000169.3(GLA):c.1209AAG[1] (p.Arg404del)
|
rs869312241
|
|
NM_000169.3(GLA):c.1225C>T (p.Pro409Ser)
|
rs878853698
|
|
NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)
|
rs2147470514
|
|
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)
|
rs797044777
|
|
NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)
|
rs869312246
|
|
NM_000169.3(GLA):c.1246C>T (p.Gln416Ter)
|
rs869312247
|
|
NM_000169.3(GLA):c.1247A>C (p.Gln416Pro)
|
rs398123200
|
|
NM_000169.3(GLA):c.124A>G (p.Met42Val)
|
rs797044613
|
|
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)
|
rs879254061
|
|
NM_000169.3(GLA):c.125T>C (p.Met42Thr)
|
rs398123201
|
|
NM_000169.3(GLA):c.126G>C (p.Met42Ile)
|
rs1569306108
|
|
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)
|
rs869312249
|
|
NM_000169.3(GLA):c.127G>A (p.Gly43Ser)
|
rs886044906
|
|
NM_000169.3(GLA):c.1285del (p.Leu429fs)
|
rs1555984717
|
|
NM_000169.3(GLA):c.128del (p.Gly43fs)
|
rs797044500
|
|
NM_000169.3(GLA):c.1290A>G (p.Ter430=)
|
rs1555984712
|
|
NM_000169.3(GLA):c.132G>A (p.Trp44Ter)
|
rs398123202
|
|
NM_000169.3(GLA):c.132G>C (p.Trp44Cys)
|
rs398123202
|
|
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)
|
rs398123202
|
|
NM_000169.3(GLA):c.137A>C (p.His46Pro)
|
|
|
NM_000169.3(GLA):c.137A>G (p.His46Arg)
|
rs398123203
|
|
NM_000169.3(GLA):c.137A>T (p.His46Leu)
|
rs398123203
|
|
NM_000169.3(GLA):c.141G>C (p.Trp47Cys)
|
rs1555987101
|
|
NM_000169.3(GLA):c.142G>C (p.Glu48Gln)
|
rs398123204
|
|
NM_000169.3(GLA):c.145C>A (p.Arg49Ser)
|
|
|
NM_000169.3(GLA):c.146G>C (p.Arg49Pro)
|
rs398123205
|
|
NM_000169.3(GLA):c.151A>C (p.Met51Leu)
|
rs1569306069
|
|
NM_000169.3(GLA):c.151A>G (p.Met51Val)
|
|
|
NM_000169.3(GLA):c.154T>C (p.Cys52Arg)
|
rs1057521047
|
|
NM_000169.3(GLA):c.154dup (p.Cys52fs)
|
|
|
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)
|
rs1569306036
|
|
NM_000169.3(GLA):c.170A>G (p.Gln57Arg)
|
rs869312260
|
|
NM_000169.3(GLA):c.188G>A (p.Cys63Tyr)
|
rs1569306022
|
|
NM_000169.3(GLA):c.193A>G (p.Ser65Gly)
|
rs1569306013
|
|
NM_000169.3(GLA):c.194+229TC[17]
|
rs782246787
|
|
NM_000169.3(GLA):c.194+229TC[21]
|
rs782246787
|
|
NM_000169.3(GLA):c.194+229TC[23]
|
rs782246787
|
|
NM_000169.3(GLA):c.195-1144C>T
|
|
|
NM_000169.3(GLA):c.195-1236T>C
|
|
|
NM_000169.3(GLA):c.195-1G>C
|
rs398123206
|
|
NM_000169.3(GLA):c.195-1G>T
|
rs398123206
|
|
NM_000169.3(GLA):c.195-9C>A
|
rs1569304947
|
|
NM_000169.3(GLA):c.197A>G (p.Glu66Gly)
|
rs869312264
|
|
NM_000169.3(GLA):c.19G>T (p.Glu7Ter)
|
rs398123207
|
|
NM_000169.3(GLA):c.1A>G (p.Met1Val)
|
rs869312265
|
|
NM_000169.3(GLA):c.220G>A (p.Glu74Lys)
|
rs2147480899
|
|
NM_000169.3(GLA):c.224_228delinsCA (p.Leu75_Met76delinsPro)
|
rs2147480882
|
|
NM_000169.3(GLA):c.227T>C (p.Met76Thr)
|
|
|
NM_000169.3(GLA):c.231C>T (p.Val77=)
|
rs2147480878
|
|
NM_000169.3(GLA):c.235G>T (p.Glu79Ter)
|
rs730880443
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.242G>A (p.Trp81Ter)
|
rs398123208
|
|
NM_000169.3(GLA):c.254G>A (p.Gly85Asp)
|
rs1569304898
|
|
NM_000169.3(GLA):c.254G>C (p.Gly85Ala)
|
rs1569304898
|
|
NM_000169.3(GLA):c.254G>T (p.Gly85Val)
|
rs1569304898
|
|
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)
|
rs1555986305
|
|
NM_000169.3(GLA):c.265del (p.Leu89fs)
|
rs1555986307
|
|
NM_000169.3(GLA):c.267_268dup (p.Cys90fs)
|
|
|
NM_000169.3(GLA):c.268T>C (p.Cys90Arg)
|
rs886044767
|
|
NM_000169.3(GLA):c.26del (p.His9fs)
|
rs1555987215
|
|
NM_000169.3(GLA):c.272T>C (p.Ile91Thr)
|
rs869312141
|
|
NM_000169.3(GLA):c.273_276dup (p.Asp93Ter)
|
rs1928406808
|
|
NM_000169.3(GLA):c.274G>A (p.Asp92Asn)
|
rs886041315
|
|
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)
|
rs886041315
|
|
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)
|
rs113173389
|
|
NM_000169.3(GLA):c.285G>A (p.Trp95Ter)
|
rs886044900
|
|
NM_000169.3(GLA):c.290C>T (p.Ala97Val)
|
rs1569304867
|
|
NM_000169.3(GLA):c.295del (p.Gln99fs)
|
rs886039136
|
|
NM_000169.3(GLA):c.295dup (p.Gln99fs)
|
rs886039136
|
|
NM_000169.3(GLA):c.2T>C (p.Met1Thr)
|
rs1555987232
|
|
NM_000169.3(GLA):c.316C>T (p.Leu106Phe)
|
|
|
NM_000169.3(GLA):c.326A>G (p.Asp109Gly)
|
rs1064794205
|
|
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)
|
rs104894834
|
|
NM_000169.3(GLA):c.335G>T (p.Arg112Leu)
|
rs372966991
|
|
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)
|
rs869312142
|
|
NM_000169.3(GLA):c.35G>T (p.Cys12Phe)
|
|
|
NM_000169.3(GLA):c.361_364del (p.Ala121fs)
|
rs797044670
|
|
NM_000169.3(GLA):c.368A>G (p.Tyr123Cys)
|
|
|
NM_000169.3(GLA):c.369+1G>A
|
rs797044669
|
|
NM_000169.3(GLA):c.369+5G>T
|
rs398123209
|
|
NM_000169.3(GLA):c.370-2A>G
|
rs730880444
|
|
NM_000169.3(GLA):c.370-81_370-77del
|
rs5903184
|
|
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
|
|
|
NM_000169.3(GLA):c.394G>A (p.Gly132Arg)
|
rs1555985855
|
|
NM_000169.3(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla)
|
rs1569304218
|
|
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)
|
rs727503951
|
|
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)
|
rs1183869568
|
|
NM_000169.3(GLA):c.409G>T (p.Val137Phe)
|
rs1928326653
|
|
NM_000169.3(GLA):c.413G>A (p.Gly138Glu)
|
rs1928326107
|
|
NM_000169.3(GLA):c.41T>C (p.Leu14Pro)
|
rs730880455
|
|
NM_000169.3(GLA):c.422C>T (p.Thr141Ile)
|
rs886044843
|
|
NM_000169.3(GLA):c.424T>C (p.Cys142Arg)
|
rs886044845
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.443G>A (p.Ser148Asn)
|
rs1555985829
|
|
NM_000169.3(GLA):c.443G>T (p.Ser148Ile)
|
rs1555985829
|
|
NM_000169.3(GLA):c.451TAC[1] (p.Tyr152del)
|
rs2147477618
|
|
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter)
|
rs1555985827
|
|
NM_000169.3(GLA):c.460del (p.Ile154fs)
|
rs2147477583
|
|
NM_000169.3(GLA):c.469C>T (p.Gln157Ter)
|
rs797044702
|
|
NM_000169.3(GLA):c.473C>A (p.Thr158Asn)
|
|
|
NM_000169.3(GLA):c.484T>C (p.Trp162Arg)
|
rs28935196
|
|
NM_000169.3(GLA):c.485G>A (p.Trp162Ter)
|
rs727504350
|
|
NM_000169.3(GLA):c.509A>G (p.Asp170Gly)
|
rs398123210
|
|
NM_000169.3(GLA):c.511G>A (p.Gly171Ser)
|
rs869312317
|
|
NM_000169.3(GLA):c.515G>A (p.Cys172Tyr)
|
rs869312318
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
NM_000169.3(GLA):c.53T>C (p.Phe18Ser)
|
rs2147487622
|
|
NM_000169.3(GLA):c.547+163AATT[3]
|
rs200739167
|
|
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)
|
rs869312324
|
|
NM_000169.3(GLA):c.548-1G>A
|
rs730880447
|
|
NM_000169.3(GLA):c.548-2A>G
|
rs398123211
|
|
NM_000169.3(GLA):c.548-3C>A
|
rs1603041223
|
|
NM_000169.3(GLA):c.548G>A (p.Gly183Asp)
|
rs398123212
|
|
NM_000169.3(GLA):c.548G>T (p.Gly183Val)
|
rs398123212
|
|
NM_000169.3(GLA):c.548delG (p.Gly183fs)
|
rs2147476203
|
|
NM_000169.3(GLA):c.559A>G (p.Met187Val)
|
rs869312340
|
|
NM_000169.3(GLA):c.560T>C (p.Met187Thr)
|
rs869312342
|
|
NM_000169.3(GLA):c.568del (p.Ala190fs)
|
|
|
NM_000169.3(GLA):c.581C>T (p.Thr194Ile)
|
|
|
NM_000169.3(GLA):c.595G>A (p.Val199Met)
|
rs398123213
|
|
NM_000169.3(GLA):c.596T>G (p.Val199Gly)
|
rs781871113
|
|
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)
|
rs1555987175
|
|
NM_000169.3(GLA):c.59_84del (p.Ala20fs)
|
rs1555987162
|
|
NM_000169.3(GLA):c.602C>T (p.Ser201Phe)
|
|
|
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)
|
rs869312344
|
|
NM_000169.3(GLA):c.607G>A (p.Glu203Lys)
|
rs869312345
|
|
NM_000169.3(GLA):c.610T>C (p.Trp204Arg)
|
rs869312148
|
|
NM_000169.3(GLA):c.611G>A (p.Trp204Ter)
|
rs869312346
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.613C>G (p.Pro205Ala)
|
|
|
NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del)
|
rs1569303815
|
|
NM_000169.3(GLA):c.614C>T (p.Pro205Leu)
|
rs886044879
|
|
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser)
|
rs797044727
|
|
NM_000169.3(GLA):c.620A>G (p.Tyr207Cys)
|
rs797044727
|
|
NM_000169.3(GLA):c.622_623del (p.Met208fs)
|
rs1064796601
|
|
NM_000169.3(GLA):c.630del (p.Gln212fs)
|
rs398123214
|
|
NM_000169.3(GLA):c.639+4A>T
|
rs398123215
|
|
NM_000169.3(GLA):c.639+858C>G
|
rs1603040086
|
|
NM_000169.3(GLA):c.640-133G>A
|
rs2147473679
|
|
NM_000169.3(GLA):c.640-1G>A
|
rs398123216
|
|
NM_000169.3(GLA):c.640-1G>T
|
rs398123216
|
|
NM_000169.3(GLA):c.640-201_640-196del
|
rs199939678
|
|
NM_000169.3(GLA):c.640-611_640-610del
|
rs201073095
|
|
NM_000169.3(GLA):c.640-814T>C
|
rs1603040008
|
|
NM_000169.3(GLA):c.640-854_640-853del
|
rs201655854
|
|
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)
|
rs398123217
|
|
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)
|
rs727503949
|
|
NM_000169.3(GLA):c.661C>T (p.Gln221Ter)
|
rs797044747
|
|
NM_000169.3(GLA):c.662_663del (p.Gln221fs)
|
rs398123218
|
|
NM_000169.3(GLA):c.664_672del (p.Tyr222_Asn224del)
|
rs886044902
|
|
NM_000169.3(GLA):c.666C>A (p.Tyr222Ter)
|
rs104894851
|
|
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)
|
rs869312382
|
|
NM_000169.3(GLA):c.670A>G (p.Asn224Asp)
|
rs1555985175
|
|
NM_000169.3(GLA):c.671A>C (p.Asn224Thr)
|
rs869312383
|
|
NM_000169.3(GLA):c.671A>G (p.Asn224Ser)
|
rs869312383
|
|
NM_000169.3(GLA):c.674A>G (p.His225Arg)
|
rs2147473301
|
|
NM_000169.3(GLA):c.675C>A (p.His225Gln)
|
rs1928196520
|
|
NM_000169.3(GLA):c.676T>A (p.Trp226Arg)
|
rs1928196393
|
|
NM_000169.3(GLA):c.677G>A (p.Trp226Ter)
|
rs398123219
|
|
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)
|
rs104894840
|
|
NM_000169.3(GLA):c.682A>C (p.Asn228His)
|
|
|
NM_000169.3(GLA):c.692A>C (p.Asp231Ala)
|
rs1569303295
|
|
NM_000169.3(GLA):c.694A>G (p.Ile232Val)
|
|
|
NM_000169.3(GLA):c.695T>C (p.Ile232Thr)
|
rs797044749
|
|
NM_000169.3(GLA):c.695T>G (p.Ile232Ser)
|
rs797044749
|
|
NM_000169.3(GLA):c.700G>A (p.Asp234Asn)
|
rs1057524557
|
|
NM_000169.3(GLA):c.701A>T (p.Asp234Val)
|
rs1569303289
|
|
NM_000169.3(GLA):c.704C>G (p.Ser235Cys)
|
rs797044746
|
|
NM_000169.3(GLA):c.706T>A (p.Trp236Arg)
|
rs1555985148
|
|
NM_000169.3(GLA):c.707G>A (p.Trp236Ter)
|
rs879254022
|
|
NM_000169.3(GLA):c.708G>T (p.Trp236Cys)
|
rs869312386
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)
|
rs730880450
|
|
NM_000169.3(GLA):c.718_719del (p.Lys240fs)
|
rs869312389
|
|
NM_000169.3(GLA):c.730G>C (p.Asp244His)
|
rs727503948
|
|
NM_000169.3(GLA):c.734G>A (p.Trp245Ter)
|
rs398123220
|
|
NM_000169.3(GLA):c.735G>A (p.Trp245Ter)
|
rs1060500747
|
|
NM_000169.3(GLA):c.748C>T (p.Gln250Ter)
|
rs398123221
|
|
NM_000169.3(GLA):c.751G>T (p.Glu251Ter)
|
rs1928189534
|
|
NM_000169.3(GLA):c.758T>C (p.Ile253Thr)
|
rs727505292
|
|
NM_000169.3(GLA):c.776C>G (p.Pro259Arg)
|
rs869312399
|
|
NM_000169.3(GLA):c.777del (p.Gly261fs)
|
rs1569303213
|
|
NM_000169.3(GLA):c.781G>A (p.Gly261Ser)
|
rs886044878
|
|
NM_000169.3(GLA):c.785G>A (p.Trp262Ter)
|
rs869312402
|
|
NM_000169.3(GLA):c.788A>G (p.Asn263Ser)
|
rs869312404
|
|
NM_000169.3(GLA):c.790G>T (p.Asp264Tyr)
|
rs190347120
|
|
NM_000169.3(GLA):c.791A>T (p.Asp264Val)
|
rs28935486
|
|
NM_000169.3(GLA):c.793C>T (p.Pro265Ser)
|
rs869312406
|
|
NM_000169.3(GLA):c.797A>T (p.Asp266Val)
|
rs28935487
|
|
NM_000169.3(GLA):c.800del (p.Met267fs)
|
rs1569303189
|
|
NM_000169.3(GLA):c.801+3A>G
|
rs797044748
|
|
NM_000169.3(GLA):c.801G>A (p.Met267Ile)
|
rs730880451
|
|
NM_000169.3(GLA):c.802-18T>A
|
rs2147472564
|
|
NM_000169.3(GLA):c.802-2A>G
|
rs797044499
|
|
NM_000169.3(GLA):c.802-3_802-2del
|
rs797044498
|
|
NM_000169.3(GLA):c.803_806delTAGT (p.Met267_Leu268insTer)
|
|
|
NM_000169.3(GLA):c.805G>A (p.Val269Met)
|
rs869312427
|
|
NM_000169.3(GLA):c.806T>A (p.Val269Glu)
|
rs28935488
|
|
NM_000169.3(GLA):c.808A>T (p.Ile270Phe)
|
rs1569303099
|
|
NM_000169.3(GLA):c.80del (p.Pro27fs)
|
rs730880454
|
|
NM_000169.3(GLA):c.820G>C (p.Gly274Arg)
|
rs2147472458
|
|
NM_000169.3(GLA):c.823C>T (p.Leu275Phe)
|
rs398123222
|
|
NM_000169.3(GLA):c.826A>G (p.Ser276Gly)
|
rs869312432
|
|
NM_000169.3(GLA):c.830G>A (p.Trp277Ter)
|
rs886044766
|
|
NM_000169.3(GLA):c.835C>G (p.Gln279Glu)
|
rs28935485
|
|
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)
|
rs1555985004
|
|
NM_000169.3(GLA):c.847C>T (p.Gln283Ter)
|
rs730880452
|
|
NM_000169.3(GLA):c.848dup (p.Met284fs)
|
rs1555985002
|
|
NM_000169.3(GLA):c.851T>A (p.Met284Lys)
|
|
|
NM_000169.3(GLA):c.85G>T (p.Ala29Ser)
|
rs142449183
|
|
NM_000169.3(GLA):c.861G>T (p.Trp287Cys)
|
rs104894839
|
|
NM_000169.3(GLA):c.865A>T (p.Ile289Phe)
|
rs140329381
|
|
NM_000169.3(GLA):c.868A>G (p.Met290Val)
|
rs375538532
|
|
NM_000169.3(GLA):c.870G>A (p.Met290Ile)
|
rs869312438
|
|
NM_000169.3(GLA):c.877C>T (p.Pro293Ser)
|
rs869312440
|
|
NM_000169.3(GLA):c.879_880delinsAATC (p.Leu294fs)
|
rs797044769
|
|
NM_000169.3(GLA):c.886A>G (p.Met296Val)
|
rs104894830
|
|
NM_000169.3(GLA):c.887T>C (p.Met296Thr)
|
rs869312442
|
|
NM_000169.3(GLA):c.88A>C (p.Arg30=)
|
rs1603047946
|
|
NM_000169.3(GLA):c.890C>G (p.Ser297Cys)
|
rs28935489
|
|
NM_000169.3(GLA):c.893A>G (p.Asn298Ser)
|
rs1569302985
|
|
NM_000169.3(GLA):c.896A>G (p.Asp299Gly)
|
rs1569302982
|
|
NM_000169.3(GLA):c.897C>A (p.Asp299Glu)
|
rs2147472136
|
|
NM_000169.3(GLA):c.898C>T (p.Leu300Phe)
|
rs2147472132
|
|
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)
|
rs398123223
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)
|
rs398123224
|
|
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
|
rs104894828
|
|
NM_000169.3(GLA):c.916C>T (p.Gln306Ter)
|
rs797044768
|
|
NM_000169.3(GLA):c.921C>G (p.Ala307=)
|
rs2147472055
|
|
NM_000169.3(GLA):c.926C>T (p.Ala309Val)
|
rs869312155
|
|
NM_000169.3(GLA):c.92C>G (p.Ala31Gly)
|
rs869312448
|
|
NM_000169.3(GLA):c.937G>A (p.Asp313Asn)
|
rs28935490
|
|
NM_000169.3(GLA):c.956T>C (p.Ile319Thr)
|
rs2147471929
|
|
NM_000169.3(GLA):c.958A>C (p.Asn320His)
|
rs1555984950
|
|
NM_000169.3(GLA):c.959_962del (p.Asn320fs)
|
rs398123225
|
|
NM_000169.3(GLA):c.95T>C (p.Leu32Pro)
|
rs1569306168
|
|
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)
|
rs398123226
|
|
NM_000169.3(GLA):c.966C>G (p.Asp322Glu)
|
rs398123226
|
|
NM_000169.3(GLA):c.967C>A (p.Pro323Thr)
|
rs147737890
|
|
NM_000169.3(GLA):c.969del (p.Leu324fs)
|
rs2147471863
|
|
NM_000169.3(GLA):c.973G>A (p.Gly325Ser)
|
rs398123227
|
|
NM_000169.3(GLA):c.974G>A (p.Gly325Asp)
|
rs398123228
|
|
NM_000169.3(GLA):c.979C>T (p.Gln327Ter)
|
rs28935491
|
|
NM_000169.3(GLA):c.97G>A (p.Asp33Asn)
|
rs2147487414
|
|
NM_000169.3(GLA):c.982G>A (p.Gly328Arg)
|
rs104894832
|
|
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)
|
rs104894832
|
|
NM_000169.3(GLA):c.983G>C (p.Gly328Ala)
|
rs28935492
|
|
NM_000169.3(GLA):c.983G>T (p.Gly328Val)
|
rs28935492
|
|
NM_000169.3(GLA):c.984del (p.Tyr329fs)
|
|
|
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)
|
rs1057518537
|
|
NM_000169.3(GLA):c.996_999del (p.Gln333fs)
|
rs398123229
|
|
NM_000169.3(GLA):c.997C>T (p.Gln333Ter)
|
rs2147471760
|
|
NM_000169.3(GLA):c.999+2T>C
|
rs886044860
|
|
NM_000169.3(GLA):c.999+67del
|
rs2147471663
|
|
NM_000169.3(GLA):c.[351T>G;361G>C]
|
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2092C>T
|
rs140006150
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2113dup
|
rs200620191
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2345_300+2356del
|
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G
|
rs797044497
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T
|
rs727503948
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.301-3904T>C
|
rs2147488325
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.301-3906G>A
|
rs2147488314
|
|