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.1321G>A (p.Asp441Asn)
|
rs780724173
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
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.451G>A (p.Asp151Asn)
|
rs375582374
|
0.00002
|
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
|
rs779023917
|
0.00002
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
|
rs747709527
|
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.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)
|
rs143423935
|
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.245+1G>A
|
rs778423653
|
0.00001
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)
|
rs1699791081
|
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.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
NM_000404.4(GLB1):c.517C>G (p.Leu173Val)
|
rs1303774639
|
0.00001
|
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)
|
rs756575833
|
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.1004C>T (p.Ala335Val)
|
rs398123347
|
|
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val)
|
rs376034559
|
|
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)
|
rs752177002
|
|
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)
|
|
|
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)
|
rs749980306
|
|
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
|
|
|
NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)
|
|
|
NM_000404.4(GLB1):c.1122T>A (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.1188_1189delinsCT (p.Pro397Ser)
|
|
|
NM_000404.4(GLB1):c.1233+1G>A
|
rs1553606984
|
|
NM_000404.4(GLB1):c.1234-1G>T
|
|
|
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
|
|
|
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala)
|
rs200181401
|
|
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>T (p.Asn437Ile)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)
|
rs1697334156
|
|
NM_000404.4(GLB1):c.1347+1G>A
|
|
|
NM_000404.4(GLB1):c.1347+1G>T
|
|
|
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)
|
|
|
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.1468_1470del (p.Asn490del)
|
rs1215113920
|
|
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)
|
rs1172435886
|
|
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
|
|
|
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
|
|
|
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.151A>C (p.Ile51Leu)
|
|
|
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)
|
rs1553606091
|
|
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
|
|
|
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
|
rs754131566
|
|
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser)
|
rs2125463133
|
|
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
|
|
|
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
|
|
|
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
|
rs1697138071
|
|
NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser)
|
rs1057524868
|
|
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.1739A>G (p.Gln580Arg)
|
rs2125442981
|
|
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
|
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
|
|
|
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)
|
rs72555392
|
|
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
|
|
|
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)
|
rs72555371
|
|
NM_000404.4(GLB1):c.1784G>C (p.Arg595Pro)
|
rs199694629
|
|
NM_000404.4(GLB1):c.1837_1838del (p.Pro613fs)
|
rs1696345066
|
|
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
|
|
|
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
|
rs72555370
|
|
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)
|
rs572237881
|
|
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.253C>T (p.Pro85Ser)
|
|
|
NM_000404.4(GLB1):c.302del (p.Asp101fs)
|
rs1553612213
|
|
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)
|
rs397515616
|
|
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.396+2T>C
|
rs1057517738
|
|
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.433_437del (p.Ile145fs)
|
rs1553612145
|
|
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)
|
rs751033858
|
|
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.443G>T (p.Arg148Leu)
|
|
|
NM_000404.4(GLB1):c.457+2T>C
|
rs398123354
|
|
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)
|
|
|
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)
|
|
|
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
|
|
|
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
|
|
|
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)
|
rs2125543580
|
|
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)
|
rs1553611789
|
|
NM_000404.4(GLB1):c.552+2T>C
|
rs1553611778
|
|
NM_000404.4(GLB1):c.553-2A>T
|
rs2125533195
|
|
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)
|
|
|
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
|
|
|
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
|
|
|
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+2T>C
|
rs1699291583
|
|
NM_000404.4(GLB1):c.733+2_733+4del
|
rs1553611016
|
|
NM_000404.4(GLB1):c.76-1G>T
|
|
|
NM_000404.4(GLB1):c.765G>C (p.Gln255His)
|
rs1553610553
|
|
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
|
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)
|
rs1699086565
|
|
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.827A>C (p.His276Pro)
|
rs1559401406
|
|
NM_000404.4(GLB1):c.835del (p.Gln279fs)
|
|
|
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
|
|
|
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr)
|
rs727503954
|
|
NM_000404.4(GLB1):c.902_914+17delinsAGGCAAGTATATACTTGCC
|
rs1064794737
|
|
NM_000404.4(GLB1):c.915-1G>T
|
rs749020375
|
|
NM_000404.4(GLB1):c.915-2A>G
|
|
|
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)
|
rs1699002261
|
|
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
|
|
|
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
|
|
|
NM_000404.4(GLB1):c.941T>G (p.Phe314Cys)
|
rs1699001242
|
|
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.955+2T>G
|
rs746883447
|
|
NM_000404.4(GLB1):c.958G>A (p.Ala320Thr)
|
rs1698735097
|
|
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
|
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)
|
rs370107958
|
|
Single allele
|
|
|