NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000375.3(UROS):c.63+1G>A
|
rs373864821
|
0.00006
|
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)
|
rs121908020
|
0.00006
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys)
|
rs758132799
|
0.00004
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00004
|
NM_000175.5(GPI):c.286C>T (p.Arg96Ter)
|
rs781245249
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000298.6(PKLR):c.1436G>A (p.Arg479His)
|
rs118204085
|
0.00004
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)
|
rs137853582
|
0.00003
|
NM_000375.3(UROS):c.10C>T (p.Leu4Phe)
|
rs121908015
|
0.00003
|
NM_000375.3(UROS):c.661-31T>G
|
rs750180293
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg)
|
rs267606851
|
0.00002
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)
|
rs201953584
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)
|
rs1238884216
|
0.00001
|
NM_000175.5(GPI):c.14C>T (p.Thr5Ile)
|
rs267606852
|
0.00001
|
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)
|
rs137853584
|
0.00001
|
NM_000175.5(GPI):c.301G>A (p.Val101Met)
|
rs757341382
|
0.00001
|
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)
|
rs398122379
|
0.00001
|
NM_000188.3(HK1):c.281G>A (p.Arg94Gln)
|
rs1176654400
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
|
rs138893744
|
0.00001
|
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)
|
rs74315362
|
0.00001
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
|
rs771145576
|
0.00001
|
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)
|
rs201255024
|
0.00001
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)
|
rs121964848
|
0.00001
|
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)
|
rs1565538350
|
0.00001
|
NM_000375.3(UROS):c.-203T>C
|
rs1554891988
|
0.00001
|
NM_000375.3(UROS):c.-26-193C>A
|
rs397515350
|
0.00001
|
NM_000375.3(UROS):c.184A>G (p.Thr62Ala)
|
rs28941775
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_000402.4(G6PD):c.1451G>A (p.Arg484His)
|
rs137852324
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)
|
rs137852343
|
0.00001
|
NM_001358263.1(HK1):c.75+20308C>T
|
rs756166032
|
0.00001
|
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
|
rs1557229854
|
0.00001
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu)
|
rs1557230626
|
0.00001
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)
|
rs751972865
|
0.00001
|
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)
|
rs121964925
|
0.00001
|
NM_001724.5(BPGM):c.269G>A (p.Arg90His)
|
rs781222092
|
0.00001
|
G6PD Amsterdam
|
rs2070404412
|
|
G6PD NARA
|
rs587776730
|
|
G6PD VARNSDORF
|
rs2070350009
|
|
G6PD ZURICH
|
rs2070350038
|
|
NC_000001.11:g.155301478C>G
|
rs2148221101
|
|
NC_000023.10:g.(?_152014869)_(154563736_?)del
|
|
|
NC_000023.11:g.154532803dup
|
|
|
NM_000175.5(GPI):c.1040G>A (p.Arg347His)
|
rs137853583
|
|
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg)
|
rs267606853
|
|
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter)
|
rs2074944986
|
|
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys)
|
rs1364382189
|
|
NM_000175.5(GPI):c.1415G>A (p.Arg472His)
|
|
|
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn)
|
rs137853585
|
|
NM_000175.5(GPI):c.244del (p.Glu82fs)
|
rs769026153
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)
|
rs137853249
|
|
NM_000188.3(HK1):c.497_591+1del
|
|
|
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
|
|
|
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
|
|
|
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
|
|
|
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
|
|
|
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
|
|
NM_000289.6(PFKM):c.1338del (p.Gln447fs)
|
rs2135995131
|
|
NM_000289.6(PFKM):c.1341+1G>T
|
rs755419857
|
|
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
|
|
|
NM_000289.6(PFKM):c.1413-64A>G
|
rs1202417178
|
|
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
|
|
|
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
|
|
|
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
|
rs2135856711
|
|
NM_000289.6(PFKM):c.1704del (p.Phe568fs)
|
rs2136019667
|
|
NM_000289.6(PFKM):c.1761del (p.Ala588fs)
|
rs2136020407
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
|
|
|
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
|
|
|
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
|
rs1592818641
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)
|
rs121918196
|
|
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs)
|
rs2136049056
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
|
|
|
NM_000289.6(PFKM):c.237+1G>C
|
rs202143236
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.290del (p.Gly97fs)
|
|
|
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)
|
rs2135886253
|
|
NM_000289.6(PFKM):c.428-2A>C
|
rs895690691
|
|
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
|
|
|
NM_000289.6(PFKM):c.646dup (p.Ala216fs)
|
rs2135915377
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
NM_000289.6(PFKM):c.74del (p.Gly25fs)
|
rs2137862074
|
|
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
|
|
|
NM_000289.6(PFKM):c.874del (p.Arg292fs)
|
rs1369841345
|
|
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)
|
rs747097960
|
|
NM_000298.6(PKLR):c.1015del (p.Asp339fs)
|
rs1193689718
|
|
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys)
|
rs118204084
|
|
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)
|
rs118204089
|
|
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)
|
rs118204083
|
|
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)
|
|
|
NM_000298.6(PKLR):c.826del (p.Val276fs)
|
rs754939638
|
|
NM_000365.6(TPI1):c.32dup (p.Asn12fs)
|
rs587777441
|
|
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter)
|
rs121964850
|
|
NM_000365.6(TPI1):c.511A>G (p.Ile171Val)
|
rs121964849
|
|
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)
|
rs121964847
|
|
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser)
|
rs587777440
|
|
NM_000375.2(UROS):c.148_244del
|
rs2133941461
|
|
NM_000375.3(UROS):c.-26-183G>A
|
rs397515349
|
|
NM_000375.3(UROS):c.-26-197C>A
|
rs397515351
|
|
NM_000375.3(UROS):c.158C>T (p.Pro53Leu)
|
rs121908013
|
|
NM_000375.3(UROS):c.197C>T (p.Ala66Val)
|
rs28941774
|
|
NM_000375.3(UROS):c.243A>T (p.Glu81Asp)
|
rs121908018
|
|
NM_000375.3(UROS):c.395-1dup
|
rs796051859
|
|
NM_000375.3(UROS):c.562G>A (p.Gly188Arg)
|
rs121908017
|
|
NM_000375.3(UROS):c.562G>T (p.Gly188Trp)
|
rs121908017
|
|
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys)
|
rs1590007244
|
|
NM_000375.3(UROS):c.743C>A (p.Pro248Gln)
|
rs121908021
|
|
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)
|
rs137852347
|
|
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)
|
rs137852333
|
|
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)
|
rs137852345
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)
|
rs137852322
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
|
rs137852334
|
|
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)
|
rs137852321
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)
|
rs137852335
|
|
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)
|
rs137852323
|
|
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)
|
rs137852336
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn)
|
rs137852315
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.683G>A (p.Arg228His)
|
rs137852332
|
|
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)
|
rs137852332
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_001042351.3(G6PD):c.-9+2T>G
|
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
|
|
|
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly)
|
rs121909533
|
|
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)
|
rs121909534
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys)
|
rs137852329
|
|
NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser)
|
|
|
NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)
|
|
|
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr)
|
|
|
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu)
|
rs2148328905
|
|
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly)
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NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp)
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NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly)
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NM_001360016.2(G6PD):c.1183C>T (p.Gln395Ter)
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NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala)
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rs2148328852
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NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg)
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rs1557229683
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NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu)
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rs1557229683
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NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)
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rs137852325
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NM_001360016.2(G6PD):c.1205C>A (p.Thr402Asn)
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NM_001360016.2(G6PD):c.1215G>A (p.Met405Ile)
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NM_001360016.2(G6PD):c.1220A>C (p.Lys407Thr)
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NM_001360016.2(G6PD):c.1225C>T (p.Pro409Ser)
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NM_001360016.2(G6PD):c.1226C>A (p.Pro409Gln)
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NM_001360016.2(G6PD):c.1226C>G (p.Pro409Arg)
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NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys)
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NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter)
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NM_001360016.2(G6PD):c.1284C>A (p.Tyr428Ter)
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NM_001360016.2(G6PD):c.1285A>G (p.Lys429Glu)
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NM_001360016.2(G6PD):c.1288-2A>T
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NM_001360016.2(G6PD):c.1292T>G (p.Val431Gly)
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NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
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NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)
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rs1557229599
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NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
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NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)
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rs137852324
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NM_001360016.2(G6PD):c.1376del (p.Arg459fs)
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rs2070346743
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NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)
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rs1603411214
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NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu)
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NM_001360016.2(G6PD):c.1463G>T (p.Gly488Val)
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NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser)
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rs1603411177
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NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)
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NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs)
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NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)
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rs2070404146
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NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
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NM_001360016.2(G6PD):c.283_285del (p.Lys95del)
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NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)
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NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
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rs78365220
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NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)
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rs782322505
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NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
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|
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NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
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NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
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NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn)
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NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del)
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NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)
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NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg)
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NM_001360016.2(G6PD):c.770G>A (p.Arg257Gln)
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NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu)
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NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
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NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly)
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NM_001360016.2(G6PD):c.882del (p.Lys293_Cys294insTer)
|
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NM_001360016.2(G6PD):c.916G>A (p.Gly306Ser)
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NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del)
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NM_001360016.2(G6PD):c.[376A>G;968T>C]
|
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NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
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NM_001724.5(BPGM):c.61del (p.Arg21fs)
|
rs786205092
|
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NM_002049.4(GATA1):c.919C>T (p.Arg307Cys)
|
rs1057518396
|
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NM_002049.4(GATA1):c.920G>A (p.Arg307His)
|
rs1557020556
|
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PKLR, 1-BP DEL
|
|
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UROS, 80-BP INS
|
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