NM_000404.4(GLB1):c.*319G>A
|
rs139730198
|
0.00851
|
NM_000404.4(GLB1):c.*423A>G
|
rs79603348
|
0.00153
|
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_001039770.3(TMPPE):c.-500C>G
|
rs368944274
|
0.00037
|
NM_000404.4(GLB1):c.1347+10G>A
|
rs199538100
|
0.00028
|
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)
|
rs77988381
|
0.00028
|
NM_000404.4(GLB1):c.1530G>A (p.Thr510=)
|
rs191203702
|
0.00025
|
NM_000404.4(GLB1):c.234C>T (p.Asn78=)
|
rs368796666
|
0.00023
|
NM_000404.4(GLB1):c.1234-11T>A
|
rs145674318
|
0.00020
|
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
|
rs200762972
|
0.00015
|
NM_000404.4(GLB1):c.1479+11C>T
|
rs369789589
|
0.00015
|
NM_000404.4(GLB1):c.40G>C (p.Val14Leu)
|
rs376500233
|
0.00014
|
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr)
|
rs186781398
|
0.00011
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
NM_000404.4(GLB1):c.1480-8C>G
|
rs753129246
|
0.00010
|
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)
|
rs1803198
|
0.00010
|
NM_000404.4(GLB1):c.1601A>G (p.His534Arg)
|
rs770982909
|
0.00008
|
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)
|
rs368139032
|
0.00007
|
NM_000404.4(GLB1):c.*44C>T
|
rs199659949
|
0.00006
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)
|
rs766214522
|
0.00006
|
NM_000404.4(GLB1):c.1069-4A>G
|
rs781267265
|
0.00005
|
NM_000404.4(GLB1):c.*224G>T
|
rs557844974
|
0.00004
|
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln)
|
rs761601513
|
0.00004
|
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)
|
rs201148460
|
0.00004
|
NM_000404.4(GLB1):c.1348-7C>T
|
rs774732235
|
0.00004
|
NM_000404.4(GLB1):c.1910C>T (p.Thr637Met)
|
rs369133124
|
0.00004
|
NM_000404.4(GLB1):c.235G>A (p.Ala79Thr)
|
rs553660803
|
0.00004
|
NM_001039770.3(TMPPE):c.-398A>G
|
rs369627064
|
0.00004
|
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.335A>C (p.His112Pro)
|
rs753965226
|
0.00003
|
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)
|
rs772539129
|
0.00003
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
NM_000404.4(GLB1):c.1143+3A>C
|
rs759517360
|
0.00002
|
NM_000404.4(GLB1):c.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
NM_000404.4(GLB1):c.1568A>G (p.His523Arg)
|
rs1175119240
|
0.00002
|
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
|
rs767685019
|
0.00002
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys)
|
rs748853764
|
0.00002
|
NM_000404.3(GLB1):c.-73C>T
|
rs530326876
|
0.00001
|
NM_000404.4(GLB1):c.1202T>C (p.Leu401Pro)
|
rs1301956348
|
0.00001
|
NM_000404.4(GLB1):c.1202T>G (p.Leu401Arg)
|
rs1301956348
|
0.00001
|
NM_000404.4(GLB1):c.1241G>A (p.Gly414Glu)
|
rs1399147380
|
0.00001
|
NM_000404.4(GLB1):c.1261A>G (p.Thr421Ala)
|
rs779877504
|
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.1471G>A (p.Asp491Asn)
|
rs780232995
|
0.00001
|
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)
|
rs202007119
|
0.00001
|
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)
|
rs1207569870
|
0.00001
|
NM_000404.4(GLB1):c.1643T>A (p.Leu548His)
|
rs1335107953
|
0.00001
|
NM_000404.4(GLB1):c.1753G>A (p.Gly585Ser)
|
rs1291361971
|
0.00001
|
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)
|
rs72555371
|
0.00001
|
NM_000404.4(GLB1):c.1852G>A (p.Val618Met)
|
rs1375909576
|
0.00001
|
NM_000404.4(GLB1):c.1873C>T (p.Pro625Ser)
|
rs755581184
|
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.2009A>G (p.Lys670Arg)
|
rs764348340
|
0.00001
|
NM_000404.4(GLB1):c.20G>C (p.Arg7Pro)
|
rs1484753571
|
0.00001
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.295T>A (p.Ser99Thr)
|
rs968429427
|
0.00001
|
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr)
|
rs1416369501
|
0.00001
|
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)
|
rs778700089
|
0.00001
|
NM_000404.4(GLB1):c.524A>G (p.Gln175Arg)
|
rs367692210
|
0.00001
|
NM_000404.4(GLB1):c.534G>A (p.Gly178=)
|
rs928862880
|
0.00001
|
NM_000404.4(GLB1):c.553-8A>G
|
rs886058342
|
0.00001
|
NM_000404.4(GLB1):c.703G>A (p.Gly235Ser)
|
rs766019573
|
0.00001
|
NM_000404.4(GLB1):c.75+1G>C
|
rs398123358
|
0.00001
|
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)
|
rs1214295886
|
0.00001
|
NM_000404.4(GLB1):c.836A>G (p.Gln279Arg)
|
rs1185364016
|
0.00001
|
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)
|
rs1261599031
|
0.00001
|
NM_000404.4(GLB1):c.850A>G (p.Ile284Val)
|
rs746547573
|
0.00001
|
NM_000404.4(GLB1):c.884A>G (p.Asp295Gly)
|
rs76016860
|
0.00001
|
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)
|
rs1284882385
|
0.00001
|
NM_001039770.3(TMPPE):c.-523G>C
|
rs529551028
|
0.00001
|
NC_000003.12:g.33097285A>C
|
|
|
NM_000404.4(GLB1):c.*194C>A
|
rs886058340
|
|
NM_000404.4(GLB1):c.*39C>T
|
rs1696328310
|
|
NM_000404.4(GLB1):c.1018G>A (p.Ala340Thr)
|
|
|
NM_000404.4(GLB1):c.1026C>A (p.Asp342Glu)
|
rs2125514060
|
|
NM_000404.4(GLB1):c.1027C>T (p.Leu343Phe)
|
|
|
NM_000404.4(GLB1):c.1030A>G (p.Thr344Ala)
|
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
NM_000404.4(GLB1):c.1084G>A (p.Glu362Lys)
|
|
|
NM_000404.4(GLB1):c.1088G>A (p.Gly363Asp)
|
rs189503132
|
|
NM_000404.4(GLB1):c.1095C>G (p.Ile365Met)
|
|
|
NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser)
|
rs1697636883
|
|
NM_000404.4(GLB1):c.1120T>C (p.Tyr374His)
|
|
|
NM_000404.4(GLB1):c.1121A>T (p.Tyr374Phe)
|
|
|
NM_000404.4(GLB1):c.113G>A (p.Arg38Gln)
|
|
|
NM_000404.4(GLB1):c.1184C>T (p.Ser395Phe)
|
|
|
NM_000404.4(GLB1):c.1198A>C (p.Ser400Arg)
|
|
|
NM_000404.4(GLB1):c.119C>T (p.Ser40Phe)
|
|
|
NM_000404.4(GLB1):c.1201C>A (p.Leu401Ile)
|
rs1402467081
|
|
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)
|
rs72555369
|
|
NM_000404.4(GLB1):c.1223A>G (p.Gln408Arg)
|
rs72555369
|
|
NM_000404.4(GLB1):c.1228A>C (p.Lys410Gln)
|
|
|
NM_000404.4(GLB1):c.1232A>C (p.Gln411Pro)
|
|
|
NM_000404.4(GLB1):c.1233+15G>A
|
|
|
NM_000404.4(GLB1):c.1234-3C>A
|
|
|
NM_000404.4(GLB1):c.1273G>C (p.Asp425His)
|
|
|
NM_000404.4(GLB1):c.1279A>G (p.Ser427Gly)
|
|
|
NM_000404.4(GLB1):c.1306C>G (p.Leu436Val)
|
rs34421970
|
|
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.1333G>A (p.Val445Ile)
|
|
|
NM_000404.4(GLB1):c.1348-3C>G
|
rs1697255114
|
|
NM_000404.4(GLB1):c.1351C>T (p.Pro451Ser)
|
rs267599772
|
|
NM_000404.4(GLB1):c.1360G>A (p.Val454Ile)
|
rs1398424263
|
|
NM_000404.4(GLB1):c.1370_1372dup (p.Arg457dup)
|
rs2125467100
|
|
NM_000404.4(GLB1):c.1375_1377del (p.Asn459del)
|
|
|
NM_000404.4(GLB1):c.137_138delinsCC (p.Gln46Pro)
|
|
|
NM_000404.4(GLB1):c.1384A>G (p.Thr462Ala)
|
|
|
NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)
|
|
|
NM_000404.4(GLB1):c.1423C>T (p.Leu475Phe)
|
|
|
NM_000404.4(GLB1):c.1426C>G (p.Leu476Val)
|
rs113534264
|
|
NM_000404.4(GLB1):c.1437C>A (p.Asn479Lys)
|
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
|
|
|
NM_000404.4(GLB1):c.1505G>A (p.Ser502Asn)
|
|
|
NM_000404.4(GLB1):c.1508C>A (p.Ser503Tyr)
|
|
|
NM_000404.4(GLB1):c.1516C>A (p.Leu506Ile)
|
|
|
NM_000404.4(GLB1):c.1520C>T (p.Thr507Met)
|
|
|
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)
|
rs72555390
|
|
NM_000404.4(GLB1):c.1537C>T (p.Pro513Ser)
|
|
|
NM_000404.4(GLB1):c.1556C>T (p.Ala519Val)
|
rs2125463380
|
|
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
|
|
|
NM_000404.4(GLB1):c.1585C>T (p.His529Tyr)
|
|
|
NM_000404.4(GLB1):c.1603C>G (p.His535Asp)
|
rs886058341
|
|
NM_000404.4(GLB1):c.1612G>A (p.Ala538Thr)
|
|
|
NM_000404.4(GLB1):c.1640C>T (p.Thr547Met)
|
|
|
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)
|
rs2125463098
|
|
NM_000404.4(GLB1):c.1672A>G (p.Ile558Val)
|
|
|
NM_000404.4(GLB1):c.168C>G (p.His56Gln)
|
rs745385633
|
|
NM_000404.4(GLB1):c.1724_1725delinsTG (p.Gly575Val)
|
|
|
NM_000404.4(GLB1):c.1734+4C>T
|
|
|
NM_000404.4(GLB1):c.1735-15TC[7]
|
rs745361874
|
|
NM_000404.4(GLB1):c.173C>T (p.Ser58Phe)
|
rs1302203983
|
|
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.1787G>A (p.Gly596Asp)
|
rs1696348575
|
|
NM_000404.4(GLB1):c.184C>T (p.Arg62Cys)
|
|
|
NM_000404.4(GLB1):c.1855C>A (p.Leu619Met)
|
|
|
NM_000404.4(GLB1):c.1897C>G (p.Leu633Val)
|
|
|
NM_000404.4(GLB1):c.189C>G (p.Phe63Leu)
|
|
|
NM_000404.4(GLB1):c.1903G>T (p.Ala635Ser)
|
|
|
NM_000404.4(GLB1):c.1951G>A (p.Asp651Asn)
|
|
|
NM_000404.4(GLB1):c.1969G>A (p.Val657Ile)
|
|
|
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)
|
rs1553604682
|
|
NM_000404.4(GLB1):c.1979G>A (p.Arg660Lys)
|
|
|
NM_000404.4(GLB1):c.1981C>T (p.Leu661Phe)
|
|
|
NM_000404.4(GLB1):c.1990C>T (p.Pro664Ser)
|
|
|
NM_000404.4(GLB1):c.1991del (p.Pro664fs)
|
rs1553604677
|
|
NM_000404.4(GLB1):c.1997C>T (p.Pro666Leu)
|
rs754538192
|
|
NM_000404.4(GLB1):c.2006del (p.Asn669fs)
|
rs759633494
|
|
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)
|
rs1553604656
|
|
NM_000404.4(GLB1):c.2008A>G (p.Lys670Glu)
|
rs2125442597
|
|
NM_000404.4(GLB1):c.2010dup (p.Asp671fs)
|
rs1165249729
|
|
NM_000404.4(GLB1):c.2011del (p.Asp671fs)
|
rs1553604655
|
|
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)
|
|
|
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.209T>C (p.Leu70Pro)
|
|
|
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg)
|
rs776889510
|
|
NM_000404.4(GLB1):c.245+3A>G
|
|
|
NM_000404.4(GLB1):c.245+6T>C
|
|
|
NM_000404.4(GLB1):c.246-16GT[2]
|
|
|
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)
|
rs1553612220
|
|
NM_000404.4(GLB1):c.253C>A (p.Pro85Thr)
|
rs1575472038
|
|
NM_000404.4(GLB1):c.262T>C (p.Phe88Leu)
|
|
|
NM_000404.4(GLB1):c.268G>C (p.Glu90Gln)
|
|
|
NM_000404.4(GLB1):c.278C>A (p.Pro93Gln)
|
|
|
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)
|
rs1430354883
|
|
NM_000404.4(GLB1):c.326G>A (p.Arg109Gln)
|
|
|
NM_000404.4(GLB1):c.331G>A (p.Ala111Thr)
|
|
|
NM_000404.4(GLB1):c.357C>G (p.Ile119Met)
|
|
|
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys)
|
rs767916019
|
|
NM_000404.4(GLB1):c.376A>G (p.Ile126Val)
|
rs886058343
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.399A>G (p.Gly133=)
|
|
|
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)
|
rs773562141
|
|
NM_000404.4(GLB1):c.454C>A (p.Pro152Thr)
|
|
|
NM_000404.4(GLB1):c.457+3A>G
|
|
|
NM_000404.4(GLB1):c.467C>T (p.Ala156Val)
|
|
|
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
|
rs754077128
|
|
NM_000404.4(GLB1):c.4C>G (p.Pro2Ala)
|
rs772539129
|
|
NM_000404.4(GLB1):c.501C>T (p.Pro167=)
|
rs1553611799
|
|
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)
|
rs758577863
|
|
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)
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rs1553611055
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NM_000404.4(GLB1):c.581C>T (p.Ala194Val)
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NM_000404.4(GLB1):c.586G>C (p.Asp196His)
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rs2125533137
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NM_000404.4(GLB1):c.592G>C (p.Asp198His)
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NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)
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NM_000404.4(GLB1):c.617G>A (p.Arg206His)
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NM_000404.4(GLB1):c.623G>T (p.Arg208Leu)
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NM_000404.4(GLB1):c.625C>T (p.His209Tyr)
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rs1699296800
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NM_000404.4(GLB1):c.62C>T (p.Thr21Met)
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NM_000404.4(GLB1):c.670C>G (p.His224Asp)
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NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)
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NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)
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NM_000404.4(GLB1):c.697C>A (p.Leu233Met)
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NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
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rs757982518
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NM_000404.4(GLB1):c.712A>G (p.Thr238Ala)
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rs750237687
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NM_000404.4(GLB1):c.713C>T (p.Thr238Ile)
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NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)
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NM_000404.4(GLB1):c.751G>A (p.Ala251Thr)
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rs1423200446
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NM_000404.4(GLB1):c.779C>A (p.Pro260His)
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rs2125525594
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NM_000404.4(GLB1):c.806T>C (p.Phe269Ser)
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NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)
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rs1699012933
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NM_000404.4(GLB1):c.837A>C (p.Gln279His)
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NM_000404.4(GLB1):c.838C>G (p.Pro280Ala)
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NM_000404.4(GLB1):c.838C>T (p.Pro280Ser)
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NM_000404.4(GLB1):c.87G>T (p.Gln29His)
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NM_000404.4(GLB1):c.895C>T (p.Arg299Cys)
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NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)
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NM_000404.4(GLB1):c.905G>C (p.Ser302Thr)
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NM_000404.4(GLB1):c.905G>T (p.Ser302Ile)
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rs2125523018
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NM_000404.4(GLB1):c.911A>G (p.Asn304Ser)
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NM_000404.4(GLB1):c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT
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NM_000404.4(GLB1):c.914+5G>A
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NM_000404.4(GLB1):c.915G>C (p.Leu305Phe)
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NM_000404.4(GLB1):c.93G>A (p.Met31Ile)
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rs1553612598
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NM_000404.4(GLB1):c.956G>A (p.Gly319Glu)
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rs2125514180
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NM_000404.4(GLB1):c.967C>G (p.Pro323Ala)
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rs1575445193
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NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
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rs977975596
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NM_001039770.3(TMPPE):c.-398_-397del
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NM_001039770.3(TMPPE):c.-492C>T
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rs1233290104
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NM_001039770.3(TMPPE):c.-510T>G
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rs886058344
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