ClinVar Miner

List of variants studied for Fabry disease by Invitae

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ClinVar version:
Total variants: 595
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_019597.5(HNRNPH2):c.-54+353C>G rs3027580 0.06337
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
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.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.635A>G (p.Gln212Arg) rs1372233359 0.00010
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.353G>A (p.Arg118His) rs143768851 0.00005
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.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000169.3(GLA):c.1000-14T>C rs397515868 0.00004
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.6G>A (p.Gln2=) rs782748047 0.00004
NM_000169.3(GLA):c.802-6T>G rs782529392 0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.1175G>C (p.Arg392Thr) rs782756052 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.474C>T (p.Thr158=) rs782615630 0.00003
NM_000169.3(GLA):c.601T>G (p.Ser201Ala) rs782164447 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 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.1256A>T (p.Asn419Ile) rs1060500749 0.00002
NM_000169.3(GLA):c.192C>T (p.Ile64=) rs1555987080 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.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.402T>C (p.Tyr134=) rs1183869568 0.00002
NM_000169.3(GLA):c.457G>A (p.Asp153Asn) rs370299397 0.00002
NM_000169.3(GLA):c.465T>C (p.Asp155=) rs782197072 0.00002
NM_000169.3(GLA):c.481G>A (p.Asp161Asn) rs1386622522 0.00002
NM_000169.3(GLA):c.501A>T (p.Leu167=) rs782486830 0.00002
NM_000169.3(GLA):c.547+8T>C rs1228378943 0.00002
NM_000169.3(GLA):c.579G>C (p.Arg193Ser) rs782619655 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.963G>A (p.Gln321=) rs1001403373 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1016T>C (p.Val339Ala) rs869312211 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.1041A>G (p.Leu347=) rs1555984853 0.00001
NM_000169.3(GLA):c.1050T>C (p.Ala350=) rs869312210 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.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1098C>T (p.Thr366=) rs1207270634 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.1191T>C (p.Tyr397=) rs869312236 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.1233C>T (p.Gly411=) rs1555984746 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 0.00001
NM_000169.3(GLA):c.13A>G (p.Asn5Asp) rs782442966 0.00001
NM_000169.3(GLA):c.177G>A (p.Glu59=) rs782188157 0.00001
NM_000169.3(GLA):c.179C>T (p.Pro60Leu) rs869312262 0.00001
NM_000169.3(GLA):c.194+6A>G rs1463398466 0.00001
NM_000169.3(GLA):c.208A>G (p.Met70Val) rs1555986330 0.00001
NM_000169.3(GLA):c.225C>T (p.Leu75=) rs869312267 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.32G>T (p.Gly11Val) rs782498765 0.00001
NM_000169.3(GLA):c.33C>T (p.Gly11=) rs781856890 0.00001
NM_000169.3(GLA):c.345T>C (p.His115=) rs782260908 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.369T>C (p.Tyr123=) rs869312282 0.00001
NM_000169.3(GLA):c.426C>T (p.Cys142=) rs1421866281 0.00001
NM_000169.3(GLA):c.43G>A (p.Ala15Thr) rs869312303 0.00001
NM_000169.3(GLA):c.548-10T>A rs782440801 0.00001
NM_000169.3(GLA):c.590G>A (p.Ser197Asn) rs201679091 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.597G>A (p.Val199=) rs1555985551 0.00001
NM_000169.3(GLA):c.605G>C (p.Cys202Ser) rs869312344 0.00001
NM_000169.3(GLA):c.616C>G (p.Leu206Val) rs730880448 0.00001
NM_000169.3(GLA):c.639+7T>C rs1555985507 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000169.3(GLA):c.640-4A>C rs1060500748 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.705C>T (p.Ser235=) rs147672853 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.727T>C (p.Leu243=) rs782453201 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000169.3(GLA):c.768T>C (p.Val256=) rs781872759 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000169.3(GLA):c.834T>C (p.Asn278=) rs782032720 0.00001
NM_000169.3(GLA):c.85G>A (p.Ala29Thr) rs142449183 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_000169.3(GLA):c.894T>C (p.Asn298=) rs869312444 0.00001
NM_000169.3(GLA):c.914C>T (p.Pro305Leu) rs1465021475 0.00001
NC_000023.10:g.(?_100499986)_(100662891_?)del
NC_000023.10:g.(?_100604873)_(100667593_?)del
NC_000023.10:g.(?_100651964)_(100653826_?)del
NC_000023.10:g.(?_100652797)_(100658993_?)del
NC_000023.10:g.(?_100652797)_(100662891_?)dup
NC_000023.10:g.(?_100655634)_(100656817_?)del
NC_000023.11:g.(?_101401237)_(101403995_?)dup
NC_000023.11:g.(?_101403791)_(101404005_?)del
NM_000169.3(GLA):c.1000-10G>C rs869312203
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1000-15T>C
NM_000169.3(GLA):c.1000-17C>T
NM_000169.3(GLA):c.1000-18_1000-17del
NM_000169.3(GLA):c.1000-1G>A rs869312204
NM_000169.3(GLA):c.1000-9G>A rs1928143594
NM_000169.3(GLA):c.1000G>A (p.Gly334Arg)
NM_000169.3(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.3(GLA):c.1015G>C (p.Val339Leu) rs2147471344
NM_000169.3(GLA):c.1016T>A (p.Val339Glu)
NM_000169.3(GLA):c.1017G>A (p.Val339=) rs869312212
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.3(GLA):c.1019G>A (p.Trp340Ter) rs730880440
NM_000169.3(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.3(GLA):c.101_105del (p.Asn34fs) rs2147487375
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>T (p.Arg342Ter) rs104894843
NM_000169.3(GLA):c.1028del (p.Pro343fs) rs869312215
NM_000169.3(GLA):c.1031_1034dup (p.Gly346fs) rs398123198
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) rs398123198
NM_000169.3(GLA):c.1037G>C (p.Gly346Ala)
NM_000169.3(GLA):c.1038C>T (p.Gly346=) rs1928138032
NM_000169.3(GLA):c.1042dup (p.Ala348fs) rs2147471207
NM_000169.3(GLA):c.1043C>A (p.Ala348Asp)
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.1057A>G (p.Met353Val)
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.1066C>A (p.Arg356=) rs104894827
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
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.1074G>T (p.Glu358Asp) rs1928133181
NM_000169.3(GLA):c.1076T>C (p.Ile359Thr) rs1928132914
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1079G>A (p.Gly360Asp) rs782509013
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.1094dup (p.Tyr365Ter)
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.109del (p.Ala37fs)
NM_000169.3(GLA):c.1101C>T (p.Ile367=) rs1928129537
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.1109C>T (p.Ala370Val) rs2147470905
NM_000169.3(GLA):c.1110T>C (p.Ala370=)
NM_000169.3(GLA):c.1113C>T (p.Ser371=) rs2147470888
NM_000169.3(GLA):c.1115T>C (p.Leu372Pro) rs1928127729
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.3(GLA):c.1118G>T (p.Gly373Val) rs869312227
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala) rs869312164
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.1132dup (p.Cys378fs)
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)
NM_000169.3(GLA):c.1139C>T (p.Pro380Leu)
NM_000169.3(GLA):c.1140T>G (p.Pro380=)
NM_000169.3(GLA):c.1142C>T (p.Ala381Val)
NM_000169.3(GLA):c.1147T>C (p.Phe383Leu)
NM_000169.3(GLA):c.1147_1149dup (p.Phe383_Ile384insPhe)
NM_000169.3(GLA):c.1154C>A (p.Thr385Lys) rs1555984780
NM_000169.3(GLA):c.1154C>T (p.Thr385Ile)
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.1161C>G (p.Leu387=) rs2147470731
NM_000169.3(GLA):c.1166C>G (p.Pro389Arg)
NM_000169.3(GLA):c.1166_1168delinsAGACTAGCTGAGTAACACAGCTGTGTTCCAGACTAGCTGAGTAACAAAGAGAGACACCCAACACAAAAACTAAAATTAGCCAGGTATGGTAACAGGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGTGGACCACTTGAGCCTGCAAGCTCAAAGCTGTAGCAAGCTATGATCCACACCACTGGCACTTACGAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAACTCCACTGGGGGGTTTCATACACTAGAAAACCTATTCTTTGTAGTTATTTTGGTATAAATATATCTACTTTAAAATGTGAGGGGGAATGTCAAAATGTTCAAGAGTGTAAGACCAAGTCCACAGACAATGTTATATATGTTACAGTGTACTGTGTCTGAAGAACAATGCCAAAATTCTTTATTAAATTAACTGTTATAACAAAGATCTGACACTTAACTCTTAGCAAAGACATCTCATATTCACTATGAATGTGTTACTGACTTCTCCCTATTAGCCTGAAATGTGTCTACTCACATGATAACCAATAACCATTGCATAATGACAAACTGCCTCATAAGGCCCCTAGTGATTGAAGTGCCAAATTAGAAAATTGCAACATATGATGTGAACTCAACCAGTCAGCTTCAATGCAAAACAAGTAGTACCAGTAAGAGGCATAAATTTCCCCACAAGCGGAATTGTATTGATGGCTCTAGCTTATTCCCTCCCAAAAGA (p.Pro389_Val390delinsGlnThrSerTer)
NM_000169.3(GLA):c.1167T>C (p.Pro389=)
NM_000169.3(GLA):c.116_119del (p.Thr39fs) rs2147487313
NM_000169.3(GLA):c.1179G>A (p.Lys393=) rs2147470688
NM_000169.3(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.3(GLA):c.118C>G (p.Pro40Ala)
NM_000169.3(GLA):c.1192G>C (p.Glu398Gln)
NM_000169.3(GLA):c.1193A>C (p.Glu398Ala)
NM_000169.3(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.3(GLA):c.11G>T (p.Arg4Met) rs1569306260
NM_000169.3(GLA):c.1203A>G (p.Ser401=) rs2147470596
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.1228A>G (p.Thr410Ala) rs104894852
NM_000169.3(GLA):c.1231G>A (p.Gly411Ser)
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.1236T>C (p.Thr412=)
NM_000169.3(GLA):c.1239T>C (p.Val413=) rs782058162
NM_000169.3(GLA):c.1242G>A (p.Leu414=)
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.1259C>A (p.Thr420Lys) rs1928114444
NM_000169.3(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.3(GLA):c.1266G>A (p.Gln422=) rs2147470421
NM_000169.3(GLA):c.1269G>A (p.Met423Ile)
NM_000169.3(GLA):c.1271C>G (p.Ser424Ter)
NM_000169.3(GLA):c.127G>C (p.Gly43Arg) rs886044906
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000169.3(GLA):c.12G>A (p.Arg4=) rs2147487858
NM_000169.3(GLA):c.133C>G (p.Leu45Val)
NM_000169.3(GLA):c.137A>C (p.His46Pro)
NM_000169.3(GLA):c.141G>C (p.Trp47Cys) rs1555987101
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.153G>A (p.Met51Ile) rs869312255
NM_000169.3(GLA):c.154dup (p.Cys52fs)
NM_000169.3(GLA):c.158A>G (p.Asn53Ser) rs1928580573
NM_000169.3(GLA):c.162T>G (p.Leu54=) rs2147487084
NM_000169.3(GLA):c.167G>A (p.Cys56Tyr) rs869312258
NM_000169.3(GLA):c.169C>T (p.Gln57Ter) rs869312259
NM_000169.3(GLA):c.174A>G (p.Glu58=) rs2147487025
NM_000169.3(GLA):c.176A>T (p.Glu59Val)
NM_000169.3(GLA):c.17C>G (p.Pro6Arg) rs1928600137
NM_000169.3(GLA):c.185C>T (p.Ser62Phe) rs1603047699
NM_000169.3(GLA):c.188G>A (p.Cys63Tyr) rs1569306022
NM_000169.3(GLA):c.18A>G (p.Pro6=)
NM_000169.3(GLA):c.18del (p.Glu7fs) rs2147487830
NM_000169.3(GLA):c.194+14G>C rs876657469
NM_000169.3(GLA):c.194+15G>A
NM_000169.3(GLA):c.194+1G>A rs868966337
NM_000169.3(GLA):c.194+1G>T
NM_000169.3(GLA):c.194+7G>A
NM_000169.3(GLA):c.195-13_195-12delinsGC
NM_000169.3(GLA):c.195-16G>A
NM_000169.3(GLA):c.195-1G>T rs398123206
NM_000169.3(GLA):c.195-8T>C
NM_000169.3(GLA):c.195-8_195-3del
NM_000169.3(GLA):c.195-9C>T
NM_000169.3(GLA):c.197A>G (p.Glu66Gly) rs869312264
NM_000169.3(GLA):c.1A>G (p.Met1Val) rs869312265
NM_000169.3(GLA):c.1_2del (p.Met1fs) rs2147487930
NM_000169.3(GLA):c.201G>A (p.Lys67=) rs2147480934
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.213G>A (p.Glu71=) rs886039140
NM_000169.3(GLA):c.215T>C (p.Met72Thr)
NM_000169.3(GLA):c.21A>T (p.Glu7Asp)
NM_000169.3(GLA):c.227T>C (p.Met76Thr)
NM_000169.3(GLA):c.235G>T (p.Glu79Ter) rs730880443
NM_000169.3(GLA):c.237A>G (p.Glu79=) rs2147480859
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.249T>C (p.Asp83=) rs2147480812
NM_000169.3(GLA):c.24A>G (p.Leu8=) rs1928599053
NM_000169.3(GLA):c.252A>G (p.Ala84=) rs2147480805
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.258T>C (p.Tyr86=) rs2147480777
NM_000169.3(GLA):c.259G>A (p.Glu87Lys) rs986730205
NM_000169.3(GLA):c.25C>T (p.His9Tyr)
NM_000169.3(GLA):c.265C>G (p.Leu89Val) rs1555986305
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.3(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.3(GLA):c.271A>C (p.Ile91Leu)
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.277G>A (p.Asp93Asn) rs869312270
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.3(GLA):c.281G>T (p.Cys94Phe) rs113173389
NM_000169.3(GLA):c.285G>C (p.Trp95Cys)
NM_000169.3(GLA):c.28C>T (p.Leu10=) rs727503073
NM_000169.3(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.3(GLA):c.291T>C (p.Ala97=) rs2147480661
NM_000169.3(GLA):c.297A>G (p.Gln99=)
NM_000169.3(GLA):c.298A>T (p.Arg100Ter) rs869312272
NM_000169.3(GLA):c.29T>C (p.Leu10Pro)
NM_000169.3(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.3(GLA):c.301G>A (p.Asp101Asn)
NM_000169.3(GLA):c.303T>C (p.Asp101=) rs2147480621
NM_000169.3(GLA):c.304del (p.Ser102fs)
NM_000169.3(GLA):c.307G>A (p.Glu103Lys)
NM_000169.3(GLA):c.318T>A (p.Leu106=) rs2147480581
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.327C>T (p.Asp109=)
NM_000169.3(GLA):c.329C>G (p.Pro110Arg)
NM_000169.3(GLA):c.32G>C (p.Gly11Ala)
NM_000169.3(GLA):c.32del (p.Gly11fs) rs869312278
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.337_354del (p.Phe113_Arg118del) rs2147480442
NM_000169.3(GLA):c.338T>C (p.Phe113Ser) rs2147480502
NM_000169.3(GLA):c.341C>T (p.Pro114Leu)
NM_000169.3(GLA):c.344A>C (p.His115Pro) rs1928402204
NM_000169.3(GLA):c.344A>G (p.His115Arg) rs1928402204
NM_000169.3(GLA):c.348G>C (p.Gly116=) rs1928402060
NM_000169.3(GLA):c.355C>T (p.Gln119Ter) rs2147480438
NM_000169.3(GLA):c.358C>G (p.Leu120Val)
NM_000169.3(GLA):c.361G>C (p.Ala121Pro) rs782197638
NM_000169.3(GLA):c.368A>G (p.Tyr123Cys)
NM_000169.3(GLA):c.369+11A>G
NM_000169.3(GLA):c.369+15A>G
NM_000169.3(GLA):c.369+2T>A rs387906483
NM_000169.3(GLA):c.369+3G>A rs1333591942
NM_000169.3(GLA):c.369+4A>T
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.369+7T>A rs2147480373
NM_000169.3(GLA):c.370-10C>G
NM_000169.3(GLA):c.370-12C>T
NM_000169.3(GLA):c.370-19_370-18del rs869312286
NM_000169.3(GLA):c.370-2A>C rs730880444
NM_000169.3(GLA):c.370-9T>A
NM_000169.3(GLA):c.370-9T>C
NM_000169.3(GLA):c.375C>T (p.His125=) rs2147477873
NM_000169.3(GLA):c.378C>T (p.Ser126=) rs2147477850
NM_000169.3(GLA):c.379A>T (p.Lys127Ter) rs2147477845
NM_000169.3(GLA):c.380A>C (p.Lys127Thr) rs1928328478
NM_000169.3(GLA):c.385C>A (p.Leu129Met)
NM_000169.3(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.3(GLA):c.39G>A (p.Ala13=)
NM_000169.3(GLA):c.3G>A (p.Met1Ile) rs2147487910
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
NM_000169.3(GLA):c.404C>T (p.Ala135Val) rs1569304221
NM_000169.3(GLA):c.40C>T (p.Leu14Phe) rs2147487699
NM_000169.3(GLA):c.413G>A (p.Gly138Glu) rs1928326107
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.426C>A (p.Cys142Ter)
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.431G>T (p.Gly144Val) rs782085638
NM_000169.3(GLA):c.432C>A (p.Gly144=) rs2147477673
NM_000169.3(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.3(GLA):c.437del (p.Pro146fs) rs2147477659
NM_000169.3(GLA):c.443G>A (p.Ser148Asn) rs1555985829
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.44C>A (p.Ala15Glu) rs869312304
NM_000169.3(GLA):c.451TAC[1] (p.Tyr152del) rs2147477618
NM_000169.3(GLA):c.454T>G (p.Tyr152Asp) rs1928323615
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.3(GLA):c.456C>T (p.Tyr152=) rs1555985827
NM_000169.3(GLA):c.459C>A (p.Asp153Glu) rs1555985819
NM_000169.3(GLA):c.45G>C (p.Ala15=) rs1928594327
NM_000169.3(GLA):c.45del (p.Leu16fs) rs2147487659
NM_000169.3(GLA):c.460del (p.Ile154fs) rs2147477583
NM_000169.3(GLA):c.462T>C (p.Ile154=) rs1928322888
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.475T>C (p.Phe159Leu) rs1928321516
NM_000169.3(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
NM_000169.3(GLA):c.480T>A (p.Ala160=)
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.488del (p.Gly163fs)
NM_000169.3(GLA):c.48T>C (p.Leu16=)
NM_000169.3(GLA):c.490G>A (p.Val164Ile) rs869312144
NM_000169.3(GLA):c.496C>A (p.Leu166Met) rs1928320069
NM_000169.3(GLA):c.496C>T (p.Leu166=)
NM_000169.3(GLA):c.496_497delinsGG (p.Leu166Gly) rs1603041916
NM_000169.3(GLA):c.500T>C (p.Leu167Pro) rs1928319806
NM_000169.3(GLA):c.50_54del (p.Arg17fs) rs869312316
NM_000169.3(GLA):c.514T>C (p.Cys172Arg)
NM_000169.3(GLA):c.520T>C (p.Cys174Arg) rs181562693
NM_000169.3(GLA):c.525C>A (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.530T>G (p.Leu177Trp)
NM_000169.3(GLA):c.533A>G (p.Glu178Gly)
NM_000169.3(GLA):c.540G>A (p.Leu180=)
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.545A>G (p.Asp182Gly) rs1928316998
NM_000169.3(GLA):c.546T>C (p.Asp182=) rs2147477318
NM_000169.3(GLA):c.547+17G>C
NM_000169.3(GLA):c.547+1G>A rs869312320
NM_000169.3(GLA):c.547+3A>G rs1351477965
NM_000169.3(GLA):c.547+9T>A rs869312323
NM_000169.3(GLA):c.548-14G>A
NM_000169.3(GLA):c.548-16T>C rs869312327
NM_000169.3(GLA):c.548-5T>A
NM_000169.3(GLA):c.548-7C>T rs2147476255
NM_000169.3(GLA):c.548-8T>C rs2147476264
NM_000169.3(GLA):c.548-9C>T rs869312339
NM_000169.3(GLA):c.559_560del (p.Met187fs) rs1928287177
NM_000169.3(GLA):c.562T>C (p.Ser188Pro) rs1555985579
NM_000169.3(GLA):c.564del (p.Leu189fs)
NM_000169.3(GLA):c.567G>C (p.Leu189Phe) rs869312343
NM_000169.3(GLA):c.570C>A (p.Ala190=)
NM_000169.3(GLA):c.573G>C (p.Leu191=)
NM_000169.3(GLA):c.573del (p.Asn192fs)
NM_000169.3(GLA):c.576T>C (p.Asn192=) rs2147476101
NM_000169.3(GLA):c.57G>A (p.Leu19=)
NM_000169.3(GLA):c.585C>T (p.Gly195=) rs1928285510
NM_000169.3(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
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.5A>G (p.Gln2Arg)
NM_000169.3(GLA):c.600C>T (p.Tyr200=)
NM_000169.3(GLA):c.601T>C (p.Ser201Pro) rs782164447
NM_000169.3(GLA):c.604T>C (p.Cys202Arg) rs1569303843
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.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.616C>T (p.Leu206Phe) rs730880448
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.624G>A (p.Met208Ile)
NM_000169.3(GLA):c.626G>C (p.Trp209Ser) rs2147475837
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.3(GLA):c.638A>C (p.Lys213Thr) rs869312149
NM_000169.3(GLA):c.639+10_639+13del rs782473708
NM_000169.3(GLA):c.639+13G>A rs2147475721
NM_000169.3(GLA):c.639+15C>T
NM_000169.3(GLA):c.639+18G>C rs189319122
NM_000169.3(GLA):c.639+2T>C rs2147475773
NM_000169.3(GLA):c.639+5G>A rs1928277140
NM_000169.3(GLA):c.639+9G>A rs2147475743
NM_000169.3(GLA):c.63C>G (p.Leu21=) rs869312361
NM_000169.3(GLA):c.640-12C>G
NM_000169.3(GLA):c.640-14_640-13del
NM_000169.3(GLA):c.640-16A>C
NM_000169.3(GLA):c.640-16A>T rs2071397
NM_000169.3(GLA):c.640-19G>A
NM_000169.3(GLA):c.640-1G>A rs398123216
NM_000169.3(GLA):c.640-1del rs1555985200
NM_000169.3(GLA):c.640-2A>G rs2147473470
NM_000169.3(GLA):c.640-811_640-798del rs869312370
NM_000169.3(GLA):c.640-859C>T rs869312374
NM_000169.3(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.3(GLA):c.646T>G (p.Tyr216Asp) rs1928199003
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.3(GLA):c.648T>C (p.Tyr216=) rs869312377
NM_000169.3(GLA):c.64G>A (p.Val22Ile)
NM_000169.3(GLA):c.650C>T (p.Thr217Ile)
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.3(GLA):c.659G>A (p.Arg220Gln) rs869312378
NM_000169.3(GLA):c.661C>T (p.Gln221Ter) rs797044747
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.673C>G (p.His225Asp) rs1928196686
NM_000169.3(GLA):c.674A>G (p.His225Arg) rs2147473301
NM_000169.3(GLA):c.679C>A (p.Arg227=) rs104894841
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.3(GLA):c.690T>C (p.Ala230=) rs869312385
NM_000169.3(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.696T>C (p.Ile232=)
NM_000169.3(GLA):c.697GAT[1] (p.Asp234del) rs1928194190
NM_000169.3(GLA):c.699T>A (p.Asp233Glu) rs1928194620
NM_000169.3(GLA):c.699T>C (p.Asp233=)
NM_000169.3(GLA):c.6G>C (p.Gln2His)
NM_000169.3(GLA):c.700G>C (p.Asp234His) rs1057524557
NM_000169.3(GLA):c.700G>T (p.Asp234Tyr) rs1057524557
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.712A>G (p.Ser238Gly)
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.720G>A (p.Lys240=)
NM_000169.3(GLA):c.722del (p.Ser241fs) rs2147473129
NM_000169.3(GLA):c.732C>G (p.Asp244Glu)
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.73G>T (p.Asp25Tyr)
NM_000169.3(GLA):c.748C>A (p.Gln250Lys) rs398123221
NM_000169.3(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.3(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.3(GLA):c.752A>G (p.Glu251Gly)
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.758TTG[1] (p.Val254del)
NM_000169.3(GLA):c.769G>A (p.Ala257Thr) rs2147472990
NM_000169.3(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.3(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.3(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.3(GLA):c.778G>A (p.Gly260Arg) rs2147472959
NM_000169.3(GLA):c.780G>A (p.Gly260=)
NM_000169.3(GLA):c.782G>A (p.Gly261Asp) rs869312401
NM_000169.3(GLA):c.786dup (p.Asn263fs) rs1555985091
NM_000169.3(GLA):c.790G>A (p.Asp264Asn)
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.798T>C (p.Asp266=)
NM_000169.3(GLA):c.799A>G (p.Met267Val)
NM_000169.3(GLA):c.801+10T>G rs1603038845
NM_000169.3(GLA):c.801+11G>A
NM_000169.3(GLA):c.801+11G>C rs782692856
NM_000169.3(GLA):c.801+13G>A
NM_000169.3(GLA):c.801+15C>A rs1191412478
NM_000169.3(GLA):c.801+16C>T
NM_000169.3(GLA):c.801+7dup
NM_000169.3(GLA):c.801+9T>C
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.802-10T>G rs1928176118
NM_000169.3(GLA):c.802-3_802-2del rs797044498
NM_000169.3(GLA):c.805G>A (p.Val269Met) rs869312427
NM_000169.3(GLA):c.807G>A (p.Val269=) rs2147472497
NM_000169.3(GLA):c.809T>C (p.Ile270Thr)
NM_000169.3(GLA):c.811G>A (p.Gly271Ser) rs1928174707
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.818T>C (p.Phe273Ser) rs869312430
NM_000169.3(GLA):c.819T>C (p.Phe273=)
NM_000169.3(GLA):c.81T>C (p.Pro27=) rs2147487477
NM_000169.3(GLA):c.820G>C (p.Gly274Arg) rs2147472458
NM_000169.3(GLA):c.824_825del (p.Leu275fs) rs1928173731
NM_000169.3(GLA):c.826A>G (p.Ser276Gly) rs869312432
NM_000169.3(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.3(GLA):c.840A>G (p.Gln280=)
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.842dup (p.Thr282fs)
NM_000169.3(GLA):c.845C>A (p.Thr282Asn)
NM_000169.3(GLA):c.851T>C (p.Met284Thr) rs1928171557
NM_000169.3(GLA):c.857T>C (p.Leu286Pro)
NM_000169.3(GLA):c.858C>T (p.Leu286=) rs869312428
NM_000169.3(GLA):c.85G>C (p.Ala29Pro)
NM_000169.3(GLA):c.85G>T (p.Ala29Ser) rs142449183
NM_000169.3(GLA):c.85dup (p.Ala29fs) rs1569306181
NM_000169.3(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.3(GLA):c.863C>A (p.Ala288Asp) rs869312437
NM_000169.3(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.867C>T (p.Ile289=)
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.871G>A (p.Ala291Thr) rs869312439
NM_000169.3(GLA):c.871G>T (p.Ala291Ser) rs869312439
NM_000169.3(GLA):c.873T>C (p.Ala291=)
NM_000169.3(GLA):c.874G>A (p.Ala292Thr) rs111812846
NM_000169.3(GLA):c.876T>C (p.Ala292=)
NM_000169.3(GLA):c.886A>T (p.Met296Leu)
NM_000169.3(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.3(GLA):c.888G>T (p.Met296Ile) rs104894846
NM_000169.3(GLA):c.889T>C (p.Ser297Pro) rs1928167952
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) rs28935489
NM_000169.3(GLA):c.890C>T (p.Ser297Phe) rs28935489
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.901del (p.Arg301fs)
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.902G>C (p.Arg301Pro) rs104894828
NM_000169.3(GLA):c.902dup (p.His302fs) rs1928166458
NM_000169.3(GLA):c.903A>G (p.Arg301=) rs1555984973
NM_000169.3(GLA):c.908T>A (p.Ile303Asn)
NM_000169.3(GLA):c.915T>G (p.Pro305=)
NM_000169.3(GLA):c.918A>G (p.Gln306=)
NM_000169.3(GLA):c.920C>T (p.Ala307Val) rs869312447
NM_000169.3(GLA):c.926C>G (p.Ala309Gly)
NM_000169.3(GLA):c.92C>T (p.Ala31Val) rs869312448
NM_000169.3(GLA):c.946G>A (p.Val316Ile) rs142217511
NM_000169.3(GLA):c.947dup (p.Ile317fs) rs869312452
NM_000169.3(GLA):c.94C>G (p.Leu32Val) rs1928587825
NM_000169.3(GLA):c.950T>C (p.Ile317Thr) rs869312158
NM_000169.3(GLA):c.950_954dup (p.Ile319fs) rs1603038220
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.967C>A (p.Pro323Thr) rs147737890
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.3(GLA):c.968C>T (p.Pro323Leu)
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.983G>A (p.Gly328Glu)
NM_000169.3(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.3(GLA):c.984G>A (p.Gly328=)
NM_000169.3(GLA):c.987C>T (p.Tyr329=) rs1928158109
NM_000169.3(GLA):c.991C>A (p.Leu331Ile) rs730880437
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.998A>T (p.Gln333Leu)
NM_000169.3(GLA):c.999+12T>C
NM_000169.3(GLA):c.999+18_999+22del
NM_000169.3(GLA):c.999+19T>C
NM_000169.3(GLA):c.999+2T>C rs886044860
NM_000169.3(GLA):c.999+7A>C
NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del rs869312426
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T rs727503948
NM_001199973.2(RPL36A-HNRNPH2):c.300+5301del
NM_019597.5(HNRNPH2):c.-54+157G>C rs782312723
Single allele

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