NM_000404.4(GLB1):c.457+235A>G
|
rs9865113
|
0.98130
|
NM_000404.4(GLB1):c.246-194A>G
|
rs7610916
|
0.97490
|
NM_000404.4(GLB1):c.553-119A>G
|
rs7637435
|
0.97005
|
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)
|
rs4302331
|
0.93112
|
NM_000404.4(GLB1):c.955+60A>G
|
rs12632196
|
0.75289
|
NM_000404.4(GLB1):c.793-132T>G
|
rs6550200
|
0.68532
|
NC_000003.12:g.33097518del
|
rs35744352
|
0.48743
|
NM_000404.4(GLB1):c.396+122C>A
|
rs11129543
|
0.47988
|
NM_000404.4(GLB1):c.1233+174G>T
|
rs13093517
|
0.31462
|
NM_000404.4(GLB1):c.1347+208A>G
|
rs4371463
|
0.25375
|
NM_000404.4(GLB1):c.1233+8T>C
|
rs13093698
|
0.21250
|
NM_000404.4(GLB1):c.1734+233C>T
|
rs62252531
|
0.21080
|
NM_000404.4(GLB1):c.956-190C>G
|
rs34173901
|
0.17958
|
NM_000404.4(GLB1):c.1068+264G>A
|
rs34840292
|
0.17566
|
NM_000404.4(GLB1):c.1068+217G>T
|
rs35480293
|
0.17555
|
NM_000404.4(GLB1):c.956-118G>C
|
rs35000357
|
0.16700
|
NM_000404.4(GLB1):c.955+144T>C
|
rs13062239
|
0.12963
|
NM_000404.4(GLB1):c.76-4746T>C
|
rs9827863
|
0.11214
|
NM_000404.4(GLB1):c.76-4426C>T
|
rs9865342
|
0.11155
|
NM_000404.4(GLB1):c.458-11T>C
|
rs34204221
|
0.10591
|
NM_000404.4(GLB1):c.457+283T>C
|
rs9882717
|
0.10136
|
NM_000404.4(GLB1):c.457+154C>T
|
rs9845695
|
0.10068
|
NM_000404.4(GLB1):c.1480-149T>C
|
rs57857629
|
0.08553
|
NM_000404.4(GLB1):c.1480-320C>A
|
rs57739080
|
0.08528
|
NM_000404.4(GLB1):c.1479+204A>G
|
rs12054351
|
0.08163
|
NM_000404.4(GLB1):c.792+231G>A
|
rs75764209
|
0.07312
|
NM_000404.4(GLB1):c.792+250G>C
|
rs4493381
|
0.07312
|
NM_000404.4(GLB1):c.734-112T>C
|
rs80059915
|
0.07289
|
NM_000404.4(GLB1):c.1069-231G>A
|
rs73826342
|
0.06953
|
NM_000404.4(GLB1):c.793-185C>G
|
rs77890945
|
0.06842
|
NM_000404.4(GLB1):c.1347+194G>T
|
rs112116560
|
0.06822
|
NM_000404.4(GLB1):c.1144-256C>G
|
rs76705613
|
0.06456
|
NM_000404.4(GLB1):c.1233+218C>T
|
rs80045472
|
0.06454
|
NM_000404.4(GLB1):c.1234-177C>T
|
rs55970801
|
0.06264
|
NM_000404.4(GLB1):c.734-80G>A
|
rs75639377
|
0.05351
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.05158
|
NM_000404.4(GLB1):c.1480-74C>G
|
rs73826340
|
0.05149
|
NM_000404.4(GLB1):c.1480-272T>C
|
rs75119558
|
0.02174
|
NM_000404.4(GLB1):c.1734+188C>T
|
rs73826338
|
0.02054
|
NM_000404.4(GLB1):c.793-246A>G
|
rs72856114
|
0.01967
|
NC_000003.12:g.33097411C>T
|
rs148730537
|
0.01878
|
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)
|
rs35289681
|
0.01618
|
NM_000404.4(GLB1):c.76-288A>G
|
rs79293183
|
0.01613
|
NM_000404.4(GLB1):c.396+61G>A
|
rs78669828
|
0.01594
|
NM_000404.4(GLB1):c.246-140G>A
|
rs75415662
|
0.01577
|
NM_000404.4(GLB1):c.1480-295A>G
|
rs9860199
|
0.01493
|
NM_000404.4(GLB1):c.955+300G>A
|
rs140241744
|
0.01471
|
NM_000404.4(GLB1):c.734-116del
|
rs151205825
|
0.01460
|
NM_000404.4(GLB1):c.1824G>C (p.Leu608=)
|
rs77226678
|
0.01441
|
NM_000404.4(GLB1):c.1734+169G>A
|
rs12633200
|
0.01387
|
NM_000404.4(GLB1):c.955+206A>G
|
rs145197254
|
0.01072
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
NC_000003.12:g.33097543G>A
|
rs142639978
|
0.00923
|
NM_000404.4(GLB1):c.1143+47G>A
|
rs139907977
|
0.00879
|
NM_000404.4(GLB1):c.*319G>A
|
rs139730198
|
0.00851
|
NM_000404.4(GLB1):c.552+21G>A
|
rs76275661
|
0.00847
|
NM_000404.4(GLB1):c.792+187C>G
|
rs7610177
|
0.00829
|
NM_000404.4(GLB1):c.1234-307G>A
|
rs149595582
|
0.00649
|
NM_000404.4(GLB1):c.793-19C>T
|
rs114082733
|
0.00619
|
NM_000404.4(GLB1):c.756C>T (p.Phe252=)
|
rs142326197
|
0.00547
|
NM_000404.4(GLB1):c.793-69T>C
|
rs150255701
|
0.00542
|
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)
|
rs147332381
|
0.00464
|
NM_000404.4(GLB1):c.1068+291A>C
|
rs570629285
|
0.00459
|
NM_000404.4(GLB1):c.245+44A>C
|
rs190936792
|
0.00275
|
NM_000404.4(GLB1):c.1233+36A>G
|
rs192752523
|
0.00272
|
NM_000404.4(GLB1):c.1032T>C (p.Thr344=)
|
rs199927127
|
0.00145
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)
|
rs371397760
|
0.00095
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
NM_000404.4(GLB1):c.1833G>A (p.Ser611=)
|
rs201755284
|
0.00066
|
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
|
rs200762972
|
0.00015
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)
|
rs72555360
|
0.00006
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
|
rs398123351
|
0.00003
|
NM_000404.4(GLB1):c.1915G>A (p.Val639Met)
|
rs1222326938
|
0.00003
|
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)
|
rs756403702
|
0.00003
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
NM_000404.4(GLB1):c.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)
|
rs748830051
|
0.00002
|
NM_000404.4(GLB1):c.377T>C (p.Ile126Thr)
|
rs1301959703
|
0.00002
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
NM_000404.4(GLB1):c.780C>G (p.Pro260=)
|
rs763307375
|
0.00002
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)
|
rs781658798
|
0.00002
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
|
rs747709527
|
0.00001
|
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)
|
rs72555359
|
0.00001
|
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)
|
rs1280400930
|
0.00001
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
NM_000404.4(GLB1):c.1480-2A>G
|
rs587776526
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.1536T>C (p.Phe512=)
|
rs763651916
|
0.00001
|
NM_000404.4(GLB1):c.1617G>A (p.Trp539Ter)
|
rs1697143129
|
0.00001
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)
|
rs1295295164
|
0.00001
|
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)
|
rs778375259
|
0.00001
|
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)
|
rs794727165
|
0.00001
|
NM_000404.4(GLB1):c.1918G>T (p.Asp640Tyr)
|
rs398123352
|
0.00001
|
NM_000404.4(GLB1):c.1983C>T (p.Leu661=)
|
rs747589996
|
0.00001
|
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)
|
rs758168173
|
0.00001
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg)
|
rs28934274
|
0.00001
|
NM_000404.4(GLB1):c.397-1G>A
|
rs398123353
|
0.00001
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
NM_000404.4(GLB1):c.699del (p.Gln234fs)
|
rs1452318343
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)
|
rs1284882385
|
0.00001
|
GRCh37/hg19 3p22.3(chr3:33106426-33110558)x1
|
|
|
NM_000404.4(GLB1):c.1004C>T (p.Ala335Val)
|
rs398123347
|
|
NM_000404.4(GLB1):c.1068G>A (p.Lys356=)
|
rs794726980
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
NM_000404.4(GLB1):c.1074A>G (p.Glu358=)
|
rs2125479142
|
|
NM_000404.4(GLB1):c.1077del (p.Val360fs)
|
rs727503952
|
|
NM_000404.4(GLB1):c.1143+28G>C
|
rs149712618
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1191del (p.Ile398fs)
|
rs1559385898
|
|
NM_000404.4(GLB1):c.1283A>G (p.Asn428Ser)
|
rs761605000
|
|
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)
|
rs72555367
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
|
rs1215113920
|
|
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
|
|
|
NM_000404.4(GLB1):c.1557A>G (p.Ala519=)
|
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
NM_000404.4(GLB1):c.1589G>A (p.Arg530His)
|
rs534898382
|
|
NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser)
|
rs1057524868
|
|
NM_000404.4(GLB1):c.169del (p.Tyr57fs)
|
rs794727249
|
|
NM_000404.4(GLB1):c.1711A>T (p.Ile571Phe)
|
rs1697136753
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
NM_000404.4(GLB1):c.1732A>C (p.Lys578Gln)
|
rs758921331
|
|
NM_000404.4(GLB1):c.1784G>C (p.Arg595Pro)
|
rs199694629
|
|
NM_000404.4(GLB1):c.206T>C (p.Leu69Pro)
|
|
|
NM_000404.4(GLB1):c.245+141A>T
|
rs113835096
|
|
NM_000404.4(GLB1):c.246-252A>C
|
rs7610931
|
|
NM_000404.4(GLB1):c.271C>A (p.Pro91Thr)
|
rs770407340
|
|
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)
|
rs1430354883
|
|
NM_000404.4(GLB1):c.385G>A (p.Glu129Lys)
|
rs886042079
|
|
NM_000404.4(GLB1):c.396+2T>C
|
rs1057517738
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
NM_000404.4(GLB1):c.457+2T>C
|
rs398123354
|
|
NM_000404.4(GLB1):c.457+3A>C
|
rs781194739
|
|
NM_000404.4(GLB1):c.457+53C>A
|
rs116227659
|
|
NM_000404.4(GLB1):c.486G>A (p.Leu162=)
|
rs2125543638
|
|
NM_000404.4(GLB1):c.647T>C (p.Val216Ala)
|
rs886042815
|
|
NM_000404.4(GLB1):c.733+1G>A
|
rs1041204916
|
|
NM_000404.4(GLB1):c.733+78A>G
|
rs77452319
|
|
NM_000404.4(GLB1):c.734-99G>T
|
rs72856120
|
|
NM_000404.4(GLB1):c.76-4429G>A
|
|
|
NM_000404.4(GLB1):c.76-4483G>A
|
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
NM_000404.4(GLB1):c.809A>C (p.Tyr270Ser)
|
rs371546950
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
NM_000404.4(GLB1):c.825T>A (p.Asp275Glu)
|
|
|
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer)
|
rs767704163
|
|
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr)
|
rs727503954
|
|
NM_000404.4(GLB1):c.902_914+17delinsAGGCAAGTATATACTTGCC
|
rs1064794737
|
|
NM_000404.4(GLB1):c.921G>A (p.Met307Ile)
|
rs1575451599
|
|
NM_000404.4(GLB1):c.941T>G (p.Phe314Cys)
|
rs1699001242
|
|
NM_000404.4(GLB1):c.955+123dup
|
rs71630561
|
|
NM_000404.4(GLB1):c.955+139dup
|
rs59740209
|
|
NM_000404.4(GLB1):c.955+142_955+143insTTTTCT
|
rs764769471
|
|
NM_000404.4(GLB1):c.955+142_955+143insTTTTCTTTT
|
rs764769471
|
|
NM_000404.4(GLB1):c.955+154del
|
rs59740209
|
|
NM_000404.4(GLB1):c.955+93del
|
rs143982364
|
|
NM_000404.4(GLB1):c.958G>A (p.Ala320Thr)
|
rs1698735097
|
|
NM_000404.4(GLB1):c.977C>T (p.Ala326Val)
|
rs1177372214
|
|