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.1233+8T>C
|
rs13093698
|
0.21250
|
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.734-112T>C
|
rs80059915
|
0.07289
|
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.1824G>C (p.Leu608=)
|
rs77226678
|
0.01441
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
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.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
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.2016A>G (p.Ser672=)
|
rs756403702
|
0.00003
|
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)
|
rs72555370
|
0.00003
|
NM_000404.4(GLB1):c.335A>C (p.His112Pro)
|
rs753965226
|
0.00003
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)
|
rs780724173
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
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.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
NM_000404.4(GLB1):c.858C>T (p.Thr286=)
|
rs770638519
|
0.00002
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)
|
rs72555359
|
0.00001
|
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)
|
rs28934886
|
0.00001
|
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)
|
rs1280400930
|
0.00001
|
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)
|
rs72555365
|
0.00001
|
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)
|
rs1553606400
|
0.00001
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)
|
rs780232995
|
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.1481G>T (p.Gly494Val)
|
rs202007119
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)
|
rs1207569870
|
0.00001
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
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.1772A>G (p.Tyr591Cys)
|
rs72555371
|
0.00001
|
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)
|
rs1228819238
|
0.00001
|
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)
|
rs758168173
|
0.00001
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
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.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)
|
rs778700089
|
0.00001
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)
|
rs756575833
|
0.00001
|
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)
|
rs1214295886
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000404.2(GLB1):c.1069_1233dup
|
|
|
NM_000404.2:c.672_673delAT
|
|
|
NM_000404.3(GLB1):c.[245C>T];[367G>A]
|
|
|
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)
|
rs752177002
|
|
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)
|
|
|
NM_000404.4(GLB1):c.1027C>T (p.Leu343Phe)
|
|
|
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)
|
rs749980306
|
|
NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)
|
|
|
NM_000404.4(GLB1):c.1077del (p.Val360fs)
|
rs727503952
|
|
NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser)
|
rs1697636883
|
|
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)
|
|
|
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)
|
|
|
NM_000404.4(GLB1):c.1142del (p.Lys381fs)
|
rs2125478934
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1188dup (p.Pro397fs)
|
rs587779403
|
|
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)
|
rs72555369
|
|
NM_000404.4(GLB1):c.1233+1G>A
|
rs1553606984
|
|
NM_000404.4(GLB1):c.1233+91G>C
|
rs2125474421
|
|
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)
|
rs1697335361
|
|
NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)
|
|
|
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)
|
rs1697334156
|
|
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)
|
rs72555367
|
|
NM_000404.4(GLB1):c.1318C>T (p.His440Tyr)
|
rs1575414831
|
|
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)
|
|
|
NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)
|
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs)
|
rs2125466937
|
|
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs)
|
rs1553606130
|
|
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)
|
rs1553606128
|
|
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)
|
rs72555390
|
|
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)
|
rs72555390
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)
|
rs1553606091
|
|
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
|
rs754131566
|
|
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)
|
rs2125463098
|
|
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)
|
rs1803200
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)
|
rs199694629
|
|
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)
|
rs1553604682
|
|
NM_000404.4(GLB1):c.1991del (p.Pro664fs)
|
rs1553604677
|
|
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)
|
rs1553604656
|
|
NM_000404.4(GLB1):c.2010dup (p.Asp671fs)
|
rs1165249729
|
|
NM_000404.4(GLB1):c.2011del (p.Asp671fs)
|
rs1553604655
|
|
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)
|
rs1553604645
|
|
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)
|
rs1553604644
|
|
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)
|
|
|
NM_000404.4(GLB1):c.245+1G>C
|
rs778423653
|
|
NM_000404.4(GLB1):c.246-17_246-3del
|
rs2125548864
|
|
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)
|
rs1553612220
|
|
NM_000404.4(GLB1):c.256_278dup (p.Gln95fs)
|
rs587776524
|
|
NM_000404.4(GLB1):c.266A>T (p.His89Leu)
|
rs2125548832
|
|
NM_000404.4(GLB1):c.302del (p.Asp101fs)
|
rs1553612213
|
|
NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)
|
rs886042079
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)
|
rs773562141
|
|
NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)
|
rs1575471281
|
|
NM_000404.4(GLB1):c.416T>A (p.Leu139Gln)
|
rs1699766499
|
|
NM_000404.4(GLB1):c.425_426del (p.Lys142fs)
|
rs1553612150
|
|
NM_000404.4(GLB1):c.425_428del (p.Lys142fs)
|
rs1699765928
|
|
NM_000404.4(GLB1):c.433_437del (p.Ile145fs)
|
rs1553612145
|
|
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)
|
rs1553612143
|
|
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.451G>T (p.Asp151Tyr)
|
rs375582374
|
|
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)
|
|
|
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
|
rs754077128
|
|
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)
|
|
|
NM_000404.4(GLB1):c.501C>T (p.Pro167=)
|
rs1553611799
|
|
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)
|
rs1553611789
|
|
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)
|
rs758577863
|
|
NM_000404.4(GLB1):c.552+2T>C
|
rs1553611778
|
|
NM_000404.4(GLB1):c.553-2A>T
|
rs2125533195
|
|
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
|
|
|
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)
|
|
|
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)
|
rs1553611055
|
|
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)
|
rs2125533127
|
|
NM_000404.4(GLB1):c.626del (p.His209fs)
|
rs1553611044
|
|
NM_000404.4(GLB1):c.645_648del (p.Val216fs)
|
rs1553611040
|
|
NM_000404.4(GLB1):c.694dup (p.Ala232fs)
|
rs1553611025
|
|
NM_000404.4(GLB1):c.733+1G>A
|
rs1041204916
|
|
NM_000404.4(GLB1):c.733+2_733+4del
|
rs1553611016
|
|
NM_000404.4(GLB1):c.733+78A>G
|
rs77452319
|
|
NM_000404.4(GLB1):c.734-99G>T
|
rs72856120
|
|
NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)
|
|
|
NM_000404.4(GLB1):c.765G>C (p.Gln255His)
|
rs1553610553
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)
|
rs1699086565
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
NM_000404.4(GLB1):c.808T>C (p.Tyr270His)
|
rs376663785
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)
|
rs1378338444
|
|
NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)
|
rs1699012933
|
|
NM_000404.4(GLB1):c.835del (p.Gln279fs)
|
|
|
NM_000404.4(GLB1):c.846del (p.Thr283fs)
|
rs1553610382
|
|
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)
|
rs1699002261
|
|
NM_000404.4(GLB1):c.922T>C (p.Phe308Leu)
|
rs587779404
|
|
NM_000404.4(GLB1):c.93G>A (p.Met31Ile)
|
rs1553612598
|
|
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)
|
rs72555361
|
|
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter)
|
rs1575451526
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|