ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2

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ClinVar version:
Total variants: 426
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HGVS dbSNP
NC_000023.10:g.(?_100658779)_(100658993_?)del
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-10C>T rs2071225
NM_000169.2(GLA):c.-125T>G rs185255090
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-13G>C rs782051708
NM_000169.2(GLA):c.-1A>G rs1555987235
NM_000169.2(GLA):c.-24T>G
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.-32G>A rs1057523740
NM_000169.2(GLA):c.-44C>G rs781906252
NM_000169.2(GLA):c.-44C>T
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.1000-10G>A rs869312203
NM_000169.2(GLA):c.1000-14T>C rs397515868
NM_000169.2(GLA):c.1000-22C>T rs2071228
NM_000169.2(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.2(GLA):c.1008C>T (p.Asn336=) rs901454780
NM_000169.2(GLA):c.100A>G (p.Asn34Asp) rs1555987150
NM_000169.2(GLA):c.1017_1027del (p.Trp340fs)
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.2(GLA):c.1021G>A (p.Glu341Lys) rs869312214
NM_000169.2(GLA):c.1021G>T (p.Glu341Ter) rs869312214
NM_000169.2(GLA):c.1023del (p.Glu341fs) rs886044909
NM_000169.2(GLA):c.1024C>G (p.Arg342Gly) rs104894843
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1029_1030TC[2] (p.Ser345fs) rs398123198
NM_000169.2(GLA):c.1037del (p.Gly346fs) rs879253990
NM_000169.2(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.2(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1055_1056del (p.Ala352fs) rs1555984840
NM_000169.2(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.2(GLA):c.1062_1076del (p.Asn355_Ile359del) rs1569302697
NM_000169.2(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) rs869312163
NM_000169.2(GLA):c.1069C>T (p.Gln357Ter)
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.1077del (p.Ile359fs) rs1569302692
NM_000169.2(GLA):c.1078G>C (p.Gly360Arg)
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) rs869312138
NM_000169.2(GLA):c.1081G>A (p.Gly361Arg) rs28935494
NM_000169.2(GLA):c.1081G>C (p.Gly361Arg) rs28935494
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) rs797044776
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.1093T>A (p.Tyr365Asn) rs367658155
NM_000169.2(GLA):c.1095T>A (p.Tyr365Ter) rs104894849
NM_000169.2(GLA):c.1095T>C (p.Tyr365=) rs104894849
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.2(GLA):c.1124_1176del (p.Gly375fs)
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.1127T>A (p.Val376Glu) rs1555984793
NM_000169.2(GLA):c.112A>G (p.Arg38Gly) rs730880446
NM_000169.2(GLA):c.1147_1149del (p.Phe383del) rs1057519609
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1162C>T (p.Leu388Phe) rs1569302626
NM_000169.2(GLA):c.1166del (p.Pro389fs) rs886044846
NM_000169.2(GLA):c.1175G>C (p.Arg392Thr) rs782756052
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.2(GLA):c.1181T>C (p.Leu394Pro) rs886044779
NM_000169.2(GLA):c.1184G>C (p.Gly395Ala) rs375661583
NM_000169.2(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.2(GLA):c.1191T>C (p.Tyr397=) rs869312236
NM_000169.2(GLA):c.1192G>A (p.Glu398Lys) rs104894844
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) rs104894844
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.2(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.2(GLA):c.11G>T (p.Arg4Met) rs1569306260
NM_000169.2(GLA):c.1209_1211AAG[1] (p.Arg404del)
NM_000169.2(GLA):c.1225C>G (p.Pro409Ala) rs878853698
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) rs104894852
NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) rs730880442
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) rs112341092
NM_000169.2(GLA):c.1246C>T (p.Gln416Ter)
NM_000169.2(GLA):c.1247A>C (p.Gln416Pro) rs398123200
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.124A>G (p.Met42Val)
NM_000169.2(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.2(GLA):c.1256A>T (p.Asn419Ile) rs1060500749
NM_000169.2(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.2(GLA):c.125_137del (p.Met42fs)
NM_000169.2(GLA):c.1261A>G (p.Met421Val) rs144060196
NM_000169.2(GLA):c.126G>C (p.Met42Ile) rs1569306108
NM_000169.2(GLA):c.1277_1278del (p.Lys426fs)
NM_000169.2(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.2(GLA):c.1280_1283ACTT[1] (p.Leu428fs)
NM_000169.2(GLA):c.1285del (p.Leu429fs) rs1555984717
NM_000169.2(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.2(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.131G>A (p.Trp44Ter) rs104894829
NM_000169.2(GLA):c.132G>A (p.Trp44Ter)
NM_000169.2(GLA):c.132G>C (p.Trp44Cys) rs398123202
NM_000169.2(GLA):c.132G>T (p.Trp44Cys) rs398123202
NM_000169.2(GLA):c.133C>T (p.Leu45=) rs143084761
NM_000169.2(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.2(GLA):c.137A>T (p.His46Leu) rs398123203
NM_000169.2(GLA):c.141G>C (p.Trp47Cys) rs1555987101
NM_000169.2(GLA):c.142G>C (p.Glu48Gln) rs398123204
NM_000169.2(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.2(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.2(GLA):c.166T>G (p.Cys56Gly) rs104894836
NM_000169.2(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.2(GLA):c.179C>T (p.Pro60Leu)
NM_000169.2(GLA):c.185C>T (p.Ser62Phe)
NM_000169.2(GLA):c.188G>A (p.Cys63Tyr) rs1569306022
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.2(GLA):c.193A>G (p.Ser65Gly) rs1569306013
NM_000169.2(GLA):c.194+14G>C rs876657469
NM_000169.2(GLA):c.194+17A>G rs2071226
NM_000169.2(GLA):c.194G>C (p.Ser65Thr) rs104894848
NM_000169.2(GLA):c.195-1G>C rs398123206
NM_000169.2(GLA):c.195-1G>T rs398123206
NM_000169.2(GLA):c.195-9C>A rs1569304947
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.2(GLA):c.213G>A (p.Glu71=) rs886039140
NM_000169.2(GLA):c.235G>T (p.Glu79Ter)
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) rs1057516429
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) rs782722577
NM_000169.2(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.2(GLA):c.254G>C (p.Gly85Ala) rs1569304898
NM_000169.2(GLA):c.254G>T (p.Gly85Val) rs1569304898
NM_000169.2(GLA):c.256T>C (p.Tyr86His) rs869312140
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.265del (p.Leu89fs) rs1555986307
NM_000169.2(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.2(GLA):c.268T>C (p.Cys90Arg) rs886044767
NM_000169.2(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.2(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.2(GLA):c.272T>C (p.Ile91Thr)
NM_000169.2(GLA):c.274G>A (p.Asp92Asn) rs886041315
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.2(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.2(GLA):c.285G>A (p.Trp95Ter) rs886044900
NM_000169.2(GLA):c.28C>T (p.Leu10=) rs727503073
NM_000169.2(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.2(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.2(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.2(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.2(GLA):c.307G>T (p.Glu103Ter) rs1569304851
NM_000169.2(GLA):c.320A>G (p.Gln107Arg) rs727505060
NM_000169.2(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.2(GLA):c.33C>T (p.Gly11=) rs781856890
NM_000169.2(GLA):c.345T>C (p.His115=) rs782260908
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.357_360GCTA[1] (p.Ala121fs) rs797044670
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) rs782197638
NM_000169.2(GLA):c.369+163A>G
NM_000169.2(GLA):c.369+1G>A rs797044669
NM_000169.2(GLA):c.369+2T>G rs387906483
NM_000169.2(GLA):c.369+3G>A rs1333591942
NM_000169.2(GLA):c.369+5G>T rs398123209
NM_000169.2(GLA):c.369T>C (p.Tyr123=) rs869312282
NM_000169.2(GLA):c.370-2A>G rs730880444
NM_000169.2(GLA):c.370-81_370-77del rs5903184
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.2(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.2(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) rs1569304218
NM_000169.2(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.2(GLA):c.402T>C (p.Tyr134=) rs1183869568
NM_000169.2(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
NM_000169.2(GLA):c.404C>T (p.Ala135Val) rs1569304221
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.41T>C (p.Leu14Pro)
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.2(GLA):c.424T>C (p.Cys142Arg) rs886044845
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.2(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.2(GLA):c.443G>A (p.Ser148Asn) rs1555985829
NM_000169.2(GLA):c.443G>T (p.Ser148Ile) rs1555985829
NM_000169.2(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.457G>A (p.Asp153Asn) rs370299397
NM_000169.2(GLA):c.45_49GCTTC[1] (p.Arg17fs) rs869312316
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.2(GLA):c.465T>G (p.Asp155Glu) rs782197072
NM_000169.2(GLA):c.466G>A (p.Ala156Thr) rs28935195
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.2(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.485G>T (p.Trp162Leu) rs727504350
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.496_497delinsGG (p.Leu166Gly)
NM_000169.2(GLA):c.501A>T (p.Leu167=) rs782486830
NM_000169.2(GLA):c.509A>G (p.Asp170Gly) rs398123210
NM_000169.2(GLA):c.520T>C (p.Cys174Arg)
NM_000169.2(GLA):c.525C>G (p.Asp175Glu)
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.2(GLA):c.547+190C>T
NM_000169.2(GLA):c.547+397G>A rs1220800965
NM_000169.2(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.2(GLA):c.548-1G>A rs730880447
NM_000169.2(GLA):c.548-2A>G rs398123211
NM_000169.2(GLA):c.548G>A (p.Gly183Asp)
NM_000169.2(GLA):c.548G>T (p.Gly183Val) rs398123212
NM_000169.2(GLA):c.561G>A (p.Met187Ile) rs869312146
NM_000169.2(GLA):c.574A>T (p.Asn192Tyr) rs1555985569
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.2(GLA):c.58G>C (p.Ala20Pro) rs104894847
NM_000169.2(GLA):c.590G>A (p.Ser197Asn) rs201679091
NM_000169.2(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.595G>A (p.Val199Met) rs398123213
NM_000169.2(GLA):c.596T>C (p.Val199Ala) rs781871113
NM_000169.2(GLA):c.596T>G (p.Val199Gly)
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.2(GLA):c.59_84del (p.Ala20fs) rs1555987162
NM_000169.2(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.606T>G (p.Cys202Trp) rs104894838
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.616C>G (p.Leu206Val) rs730880448
NM_000169.2(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser)
NM_000169.2(GLA):c.620A>G (p.Tyr207Cys) rs797044727
NM_000169.2(GLA):c.620_621AT[1] (p.Met208fs) rs1064796601
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.630C>T (p.Pro210=) rs727503071
NM_000169.2(GLA):c.630del (p.Gln212fs) rs398123214
NM_000169.2(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.2(GLA):c.639+3G>A rs1569303777
NM_000169.2(GLA):c.639+4A>T rs398123215
NM_000169.2(GLA):c.639+6A>C rs200096940
NM_000169.2(GLA):c.639+858C>G
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.640-11T>C rs782634293
NM_000169.2(GLA):c.640-136T>C
NM_000169.2(GLA):c.640-16A>G rs2071397
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.640-1G>T rs398123216
NM_000169.2(GLA):c.640-1delG rs1555985200
NM_000169.2(GLA):c.640-4A>C rs1060500748
NM_000169.2(GLA):c.640-731G>A rs2473815
NM_000169.2(GLA):c.640-814T>C
NM_000169.2(GLA):c.640-854_640-853delAG rs201655854
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.2(GLA):c.643A>C (p.Asn215His) rs727504794
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.2(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) rs797044747
NM_000169.2(GLA):c.662_663del (p.Gln221fs) rs398123218
NM_000169.2(GLA):c.664_672del (p.Tyr222_Asn224del) rs886044902
NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.2(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000169.2(GLA):c.670A>G (p.Asn224Asp) rs1555985175
NM_000169.2(GLA):c.677G>A (p.Trp226Ter) rs398123219
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.680G>C (p.Arg227Pro) rs104894840
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.695T>C (p.Ile232Thr)
NM_000169.2(GLA):c.695T>G (p.Ile232Ser) rs797044749
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.700G>A (p.Asp234Asn) rs1057524557
NM_000169.2(GLA):c.701A>T (p.Asp234Val) rs1569303289
NM_000169.2(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.2(GLA):c.706T>A (p.Trp236Arg) rs1555985148
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.2(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.2(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.2(GLA):c.721A>G (p.Ser241Gly) rs730880438
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.724A>T (p.Ile242Phe) rs397515873
NM_000169.2(GLA):c.727T>A (p.Leu243Met) rs782453201
NM_000169.2(GLA):c.729G>C (p.Leu243Phe) rs397515874
NM_000169.2(GLA):c.730G>C (p.Asp244His)
NM_000169.2(GLA):c.734G>A (p.Trp245Ter) rs398123220
NM_000169.2(GLA):c.734G>T (p.Trp245Leu) rs398123220
NM_000169.2(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.2(GLA):c.748C>A (p.Gln250Lys)
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) rs147026639
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.2(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.2(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.2(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.2(GLA):c.781G>A (p.Gly261Ser) rs886044878
NM_000169.2(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) rs869312154
NM_000169.2(GLA):c.785G>A (p.Trp262Ter) rs869312402
NM_000169.2(GLA):c.786dup (p.Asn263fs) rs1555985091
NM_000169.2(GLA):c.790G>T (p.Asp264Tyr) rs190347120
NM_000169.2(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.2(GLA):c.797A>C (p.Asp266Ala) rs28935487
NM_000169.2(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.2(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.2(GLA):c.800del (p.Met267fs) rs1569303189
NM_000169.2(GLA):c.801+14C>T rs200744672
NM_000169.2(GLA):c.801+3A>G rs797044748
NM_000169.2(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.2(GLA):c.802-2A>G rs797044499
NM_000169.2(GLA):c.802-2A>T rs797044499
NM_000169.2(GLA):c.802-3_802-2del rs797044498
NM_000169.2(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000169.2(GLA):c.805G>A (p.Val269Met) rs869312427
NM_000169.2(GLA):c.806T>A (p.Val269Glu) rs28935488
NM_000169.2(GLA):c.806T>C (p.Val269Ala) rs28935488
NM_000169.2(GLA):c.806T>G (p.Val269Gly) rs28935488
NM_000169.2(GLA):c.808A>T (p.Ile270Phe) rs1569303099
NM_000169.2(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.2(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.2(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.2(GLA):c.823del (p.Leu275fs) rs869025435
NM_000169.2(GLA):c.826A>G (p.Ser276Gly)
NM_000169.2(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.2(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.2(GLA):c.831G>C (p.Trp277Cys) rs782196174
NM_000169.2(GLA):c.835C>G (p.Gln279Glu) rs28935485
NM_000169.2(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.2(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.2(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.2(GLA):c.858C>T (p.Leu286=) rs869312428
NM_000169.2(GLA):c.85G>A (p.Ala29Thr)
NM_000169.2(GLA):c.85dup (p.Ala29fs) rs1569306181
NM_000169.2(GLA):c.861G>A (p.Trp287Ter) rs104894839
NM_000169.2(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.2(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.870G>C (p.Met290Ile)
NM_000169.2(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.2(GLA):c.879_880delinsAATC (p.Leu294fs) rs797044769
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.2(GLA):c.887T>C (p.Met296Thr)
NM_000169.2(GLA):c.888G>A (p.Met296Ile) rs104894846
NM_000169.2(GLA):c.88A>C (p.Arg30=)
NM_000169.2(GLA):c.890C>G (p.Ser297Cys) rs28935489
NM_000169.2(GLA):c.890C>T (p.Ser297Phe) rs28935489
NM_000169.2(GLA):c.893A>G (p.Asn298Ser) rs1569302985
NM_000169.2(GLA):c.896A>G (p.Asp299Gly) rs1569302982
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.914C>T (p.Pro305Leu) rs1465021475
NM_000169.2(GLA):c.916C>T (p.Gln306Ter) rs797044768
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.2(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) rs869312158
NM_000169.2(GLA):c.950_954dup (p.Ile319fs)
NM_000169.2(GLA):c.955_958ATCA[1] (p.Asn320fs) rs398123225
NM_000169.2(GLA):c.958A>C (p.Asn320His) rs1555984950
NM_000169.2(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.2(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.966C>G (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.967C>A (p.Pro323Thr) rs147737890
NM_000169.2(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.2(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000169.2(GLA):c.979C>A (p.Gln327Lys) rs28935491
NM_000169.2(GLA):c.979C>T (p.Gln327Ter) rs28935491
NM_000169.2(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.2(GLA):c.980A>T (p.Gln327Leu) rs869312160
NM_000169.2(GLA):c.982G>A (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.2(GLA):c.984G>T (p.Gly328=) rs376623208
NM_000169.2(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) rs869312136
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437
NM_000169.2(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537
NM_000169.2(GLA):c.994dup (p.Arg332fs) rs1569302887
NM_000169.2(GLA):c.996_999del (p.Gln333fs) rs398123229
NM_000169.2(GLA):c.999+2T>C rs886044860
NM_000169.2(GLA):c.[196G>C;334C>T]
NM_000169.2:c.639+739C>T
NM_000169.2:c.640-749C>T
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G rs797044497
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T rs727503948

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