ClinVar Miner

List of variants in gene GLA, RPL36A-HNRNPH2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 391
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HGVS dbSNP gnomAD frequency
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

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