ClinVar Miner

List of variants reported as benign for X-linked disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 682
Download table as spreadsheet
HGVS dbSNP
NM_000032.5(ALAS2):c.*124C>T
NM_000032.5(ALAS2):c.*56A>C rs6612250
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977
NM_000032.5(ALAS2):c.824-15C>T rs727467
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*877C>T rs11803
NM_000033.4(ABCD1):c.*894G>A rs1055847
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000054.6(AVPR2):c.*204C>T rs184401408
NM_000054.6(AVPR2):c.*257G>A rs73627263
NM_000054.6(AVPR2):c.*320G>A
NM_000054.6(AVPR2):c.*326A>C
NM_000054.6(AVPR2):c.1017G>A (p.Leu339=) rs149557877
NM_000054.6(AVPR2):c.105G>A (p.Leu35=) rs5197
NM_000054.6(AVPR2):c.1113G>A (p.Ser371=) rs5203
NM_000054.6(AVPR2):c.117G>A (p.Ala39=) rs374487946
NM_000054.6(AVPR2):c.125C>T (p.Ala42Val) rs5198
NM_000054.6(AVPR2):c.126G>A (p.Ala42=)
NM_000054.6(AVPR2):c.12G>A (p.Ala4=) rs61748993
NM_000054.6(AVPR2):c.174G>A (p.Val58=) rs201810684
NM_000054.6(AVPR2):c.19A>T (p.Thr7Ser) rs5196
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000054.6(AVPR2):c.311G>A (p.Arg104His)
NM_000054.6(AVPR2):c.317G>A (p.Arg106His)
NM_000054.6(AVPR2):c.35G>A (p.Gly12Glu) rs2071126
NM_000054.6(AVPR2):c.416G>A (p.Arg139His)
NM_000054.6(AVPR2):c.440C>T (p.Ala147Val) rs5200
NM_000054.6(AVPR2):c.546C>T (p.Asn182=) rs13306213
NM_000054.6(AVPR2):c.643G>A (p.Val215Met) rs112109182
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000054.6(AVPR2):c.742C>T (p.Arg248Cys)
NM_000054.6(AVPR2):c.769G>A (p.Gly257Ser)
NM_000054.6(AVPR2):c.927A>G (p.Leu309=) rs5201
NM_000054.6(AVPR2):c.993C>T (p.Ser331=) rs5202
NM_000091.4(COL4A3):c.*1165G>A rs28554165
NM_000091.4(COL4A3):c.*1239C>G rs10188531
NM_000091.4(COL4A3):c.*1663G>C rs56030607
NM_000091.4(COL4A3):c.*1681A>G rs78758928
NM_000091.4(COL4A3):c.*177A>G rs139638980
NM_000091.4(COL4A3):c.*2059C>G rs4290648
NM_000091.4(COL4A3):c.*2194A>C rs7567291
NM_000091.4(COL4A3):c.*2452T>C rs4470338
NM_000091.4(COL4A3):c.*2652G>A rs57817160
NM_000091.4(COL4A3):c.*2742C>T rs59257065
NM_000091.4(COL4A3):c.*286C>T rs6436677
NM_000091.4(COL4A3):c.*315A>C rs2070735
NM_000091.4(COL4A3):c.*589C>T rs55698424
NM_000091.4(COL4A3):c.*595A>T rs56123646
NM_000091.4(COL4A3):c.*893C>T rs7587228
NM_000091.4(COL4A3):c.*981C>T rs1134745
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.3419-14T>G rs116133488
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.71C>G (p.Ala24Gly) rs184704920
NM_000091.5(COL4A3):c.*1869C>A
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.144+12C>A rs1882435
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.5(COL4A3):c.1505-11T>C rs115757151
NM_000091.5(COL4A3):c.1576-15T>G rs56243460
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.5(COL4A3):c.766-13G>A rs77431913
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.5(COL4A3):c.88-4C>T rs148393022
NM_000091.5(COL4A3):c.933+14T>C rs55928538
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.*2120del rs56983325
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*566del rs11314253
NM_000092.4(COL4A4):c.*774dup rs59918285
NM_000092.4(COL4A4):c.-15T>C rs17353916
NM_000092.4(COL4A4):c.-79C>T rs55836847
NM_000092.4(COL4A4):c.102A>G (p.Gln34=) rs3817617
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.666G>A (p.Pro222=) rs111945121
NM_000092.5(COL4A4):c.*1465T>A
NM_000092.5(COL4A4):c.-2C>T rs2228558
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.5(COL4A4):c.2384-5T>C rs3769641
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.5(COL4A4):c.3817+9G>C rs13423714
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.5(COL4A4):c.4523-8T>C rs13419076
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000108.5(DLD):c.*1074C>G
NM_000108.5(DLD):c.*1300A>G
NM_000108.5(DLD):c.*1451T>C rs2108223
NM_000108.5(DLD):c.*1688G>A rs8440
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.*207G>A rs4564
NM_000108.5(DLD):c.*28G>T rs17154615
NM_000108.5(DLD):c.*470G>T
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*487C>T rs4518
NM_000108.5(DLD):c.*648G>A rs57801571
NM_000108.5(DLD):c.*855C>T rs116055514
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.*978T>C rs2158835
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000132.3(F8):c.*1214G>A rs34700571
NM_000132.3(F8):c.*1416G>T rs186338743
NM_000132.3(F8):c.*1672G>A rs1050705
NM_000132.3(F8):c.*29C>T rs5986887
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.3(F8):c.3864A>C (p.Ser1288=) rs1800292
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000132.4(F8):c.*1001C>T
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys)
NM_000132.4(F8):c.4467C>G (p.Val1489=)
NM_000132.4(F8):c.989A>G (p.His330Arg)
NM_000166.6(GJB1):c.*117C>T rs41307256
NM_000166.6(GJB1):c.*163G>T rs139775308
NM_000166.6(GJB1):c.*309G>A
NM_000166.6(GJB1):c.*34C>A rs113014279
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000284.4(PDHA1):c.*1013C>A
NM_000284.4(PDHA1):c.*1059G>A
NM_000284.4(PDHA1):c.*110C>T
NM_000284.4(PDHA1):c.*1208A>C
NM_000284.4(PDHA1):c.*1345A>G
NM_000284.4(PDHA1):c.*1377G>A
NM_000284.4(PDHA1):c.*1394C>T
NM_000284.4(PDHA1):c.*1450C>T
NM_000284.4(PDHA1):c.*1563C>G
NM_000284.4(PDHA1):c.*1598G>C
NM_000284.4(PDHA1):c.*1682T>C
NM_000284.4(PDHA1):c.*1869G>C rs15943
NM_000284.4(PDHA1):c.*319G>T
NM_000284.4(PDHA1):c.*322G>A
NM_000284.4(PDHA1):c.*392G>A
NM_000284.4(PDHA1):c.*525C>G
NM_000284.4(PDHA1):c.*614G>T
NM_000284.4(PDHA1):c.*707G>A
NM_000284.4(PDHA1):c.*728C>T
NM_000284.4(PDHA1):c.*844A>G
NM_000284.4(PDHA1):c.*857A>G
NM_000284.4(PDHA1):c.*864G>A
NM_000284.4(PDHA1):c.-88G>A
NM_000284.4(PDHA1):c.-98C>T
NM_000284.4(PDHA1):c.291+12G>A
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.760-15C>A rs7058209
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.831+15C>T rs190157093
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000307.5(POU3F4):c.*22C>G
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849
NM_000444.6(PHEX):c.*218A>C rs141594056
NM_000444.6(PHEX):c.*305G>A
NM_000444.6(PHEX):c.*361T>C rs182654518
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_000444.6(PHEX):c.*58C>T
NM_000444.6(PHEX):c.-108A>G rs149541983
NM_000444.6(PHEX):c.-126C>G
NM_000444.6(PHEX):c.-33C>T rs5951494
NM_000444.6(PHEX):c.-90A>G rs178710
NM_000444.6(PHEX):c.118+7G>T rs534550003
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075
NM_000444.6(PHEX):c.1769-10C>T rs3752433
NM_000444.6(PHEX):c.1966-11T>C rs12014792
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893
NM_000444.6(PHEX):c.849+3A>G rs200585038
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.299-8T>A rs73196229
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773
NM_000531.6(OTC):c.718-14T>C rs55722856
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000925.4(PDHB):c.*243A>C rs1126722
NM_000925.4(PDHB):c.*296C>G rs7231
NM_000925.4(PDHB):c.*353T>C rs1126735
NM_000925.4(PDHB):c.*356A>G rs1126737
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.*99C>T rs7230
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_001018113.3(FANCB):c.*14T>C rs2375726
NM_001018113.3(FANCB):c.*33T>C rs187611308
NM_001018113.3(FANCB):c.*66T>G rs143434225
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-229T>G rs149617434
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001032382.2(PQBP1):c.*3C>T
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=)
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=)
NM_001039891.2(ZNF674):c.*2120A>C rs5952893
NM_001039891.3(ZNF674):c.*1121A>T rs371158087
NM_001039891.3(ZNF674):c.*1161G>A rs55678135
NM_001039891.3(ZNF674):c.*1284C>T rs55646680
NM_001039891.3(ZNF674):c.*1926_*1927GT[4] rs72030542
NM_001039891.3(ZNF674):c.*1975G>A rs137918875
NM_001039891.3(ZNF674):c.*467A>G rs12687128
NM_001039891.3(ZNF674):c.*689T>G rs10156987
NM_001039891.3(ZNF674):c.-141+15G>A rs68019248
NM_001039891.3(ZNF674):c.-149G>A rs184123294
NM_001039891.3(ZNF674):c.1028C>T (p.Thr343Met) rs61730637
NM_001122606.1(LAMP2):c.*1723A>G rs142200759
NM_001122606.1(LAMP2):c.*1740A>G rs42885
NM_001122606.1(LAMP2):c.*1832C>T rs1045953
NM_001122606.1(LAMP2):c.*2199A>G rs2748
NM_001122606.1(LAMP2):c.*2209A>T rs113285013
NM_001122606.1(LAMP2):c.*409G>A rs5957380
NM_001122606.1(LAMP2):c.*410T>C rs41300908
NM_001122606.1(LAMP2):c.*848T>C rs185627568
NM_001122606.1(LAMP2):c.1094-1080C>T rs141881232
NM_001122606.1(LAMP2):c.1094-1108A>G rs73612906
NM_001122606.1(LAMP2):c.1094-1341C>G rs188897063
NM_001122606.1(LAMP2):c.1094-1383T>C rs5957381
NM_001122606.1(LAMP2):c.1094-1601T>C rs5957382
NM_001122606.1(LAMP2):c.1094-1626G>T rs2285548
NM_001122606.1(LAMP2):c.1094-173T>C rs150119198
NM_001122606.1(LAMP2):c.1094-2211A>G rs5957383
NM_001122606.1(LAMP2):c.1094-2220T>C rs750939378
NM_001122606.1(LAMP2):c.1094-237A>G rs10127182
NM_001122606.1(LAMP2):c.1094-2400A>C rs8160
NM_001122606.1(LAMP2):c.1094-2492C>T rs41300191
NM_001122606.1(LAMP2):c.1094-2664A>G rs745798436
NM_001122606.1(LAMP2):c.1094-302A>G rs10127185
NM_001122606.1(LAMP2):c.1094-436A>G rs12395643
NM_001122606.1(LAMP2):c.1094-502T>C rs13441024
NM_001122606.1(LAMP2):c.1094-514T>C rs765214315
NM_001122606.1(LAMP2):c.1094-535G>A rs767123866
NM_001122606.1(LAMP2):c.1094-549A>G rs756504749
NM_001122606.1(LAMP2):c.1094-692C>G rs200014321
NM_001135024.1(PDHX):c.115+41C>T rs112032820
NM_001135024.1(PDHX):c.115+41_115+43del rs371074122
NM_001135024.1(PDHX):c.115+46G>C rs375130125
NM_001135024.1(PDHX):c.115+82C>A rs2956110
NM_001166158.1(PDHX):c.-202A>G rs113073242
NM_001166158.1(PDHX):c.-272G>A rs2956111
NM_001167.3(XIAP):c.*1298G>C rs41312612
NM_001167.3(XIAP):c.*1393G>A rs28382744
NM_001167.3(XIAP):c.*1676T>C rs17334746
NM_001167.3(XIAP):c.*1958G>A rs41309540
NM_001167.3(XIAP):c.*2622G>A rs778277646
NM_001167.3(XIAP):c.*2674A>C rs17330637
NM_001167.3(XIAP):c.*2682T>G rs191855689
NM_001167.3(XIAP):c.*2729C>G rs745491539
NM_001167.3(XIAP):c.*3383T>C rs17330651
NM_001167.3(XIAP):c.*3611C>T rs28382746
NM_001167.3(XIAP):c.*3642T>G rs28382747
NM_001167.3(XIAP):c.*3707T>G rs766102484
NM_001167.3(XIAP):c.*4015A>G rs28382749
NM_001167.3(XIAP):c.*4024C>T rs28382750
NM_001167.3(XIAP):c.*4078C>A rs28382751
NM_001167.3(XIAP):c.*4092G>A rs773227715
NM_001167.3(XIAP):c.*4188T>C rs28382752
NM_001167.3(XIAP):c.*4380G>A rs181285458
NM_001167.3(XIAP):c.*4610C>T rs9856
NM_001167.3(XIAP):c.*482G>A rs144625027
NM_001167.3(XIAP):c.*4884C>T rs8371
NM_001167.3(XIAP):c.*4889T>C rs185939201
NM_001167.3(XIAP):c.*5069A>T rs5956584
NM_001167.3(XIAP):c.*5241A>T rs5958343
NM_001167.3(XIAP):c.*5295A>T rs755335432
NM_001167.3(XIAP):c.*5368C>T rs138392322
NM_001167.3(XIAP):c.*5506T>A rs201236246
NM_001167.3(XIAP):c.*5756C>T rs149254603
NM_001167.3(XIAP):c.*5796C>T rs745822519
NM_001167.3(XIAP):c.*579G>A rs758981602
NM_001167.3(XIAP):c.*5892T>G rs6648556
NM_001167.3(XIAP):c.*6251C>T rs28382755
NM_001167.3(XIAP):c.*6357G>A rs41312771
NM_001167.3(XIAP):c.*6422T>A rs5911725
NM_001167.3(XIAP):c.*6549C>T rs193060081
NM_001167.3(XIAP):c.*803G>T rs28382742
NM_001167.3(XIAP):c.*80G>C rs12838858
NM_001167.3(XIAP):c.1408A>T (p.Thr470Ser) rs143165174
NM_001167.3(XIAP):c.309G>A (p.Thr103=) rs140230812
NM_001167.3(XIAP):c.769C>G (p.Pro257Ala) rs138783302
NM_001167.4(XIAP):c.*12A>G rs28382740
NM_001167.4(XIAP):c.*3572A>G
NM_001167.4(XIAP):c.*4149A>G
NM_001167.4(XIAP):c.*4658C>T
NM_001167.4(XIAP):c.*5010A>G
NM_001167.4(XIAP):c.*5140C>T
NM_001167.4(XIAP):c.*5331G>A
NM_001167.4(XIAP):c.*5505G>A
NM_001167.4(XIAP):c.*5870G>T
NM_001167.4(XIAP):c.*6566G>A
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu)
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361
NM_001315536.1(PDHB):c.-26G>A rs201243189
NM_001330574.2(ZNF711):c.*122G>T rs755444976
NM_001330574.2(ZNF711):c.*1260G>A rs73234669
NM_001330574.2(ZNF711):c.*1411G>A rs779890560
NM_001330574.2(ZNF711):c.*153A>G rs2343388
NM_001330574.2(ZNF711):c.*272G>A rs187954106
NM_001330574.2(ZNF711):c.*47A>G rs755503652
NM_001330574.2(ZNF711):c.*632A>G rs6653049
NM_001330574.2(ZNF711):c.-286+5C>T rs41311563
NM_001330574.2(ZNF711):c.-297A>T
NM_001330574.2(ZNF711):c.-449A>G rs375972814
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile) rs200444579
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) rs138675194
NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=)
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) rs72549428
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) rs145361311
NM_001378477.1(NYX):c.222G>A (p.Leu74=)
NM_001931.4(DLAT):c.*1232_*1235dupAGGA rs368743837
NM_001931.5(DLAT):c.*1248G>C rs9822
NM_001931.5(DLAT):c.*419A>G rs9371
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_002291.3(LAMB1):c.5225-7C>T rs3213673
NM_002294.3(LAMP2):c.*1243A>G
NM_002294.3(LAMP2):c.*2518A>G
NM_002294.3(LAMP2):c.*2575G>C
NM_002294.3(LAMP2):c.*2746A>G rs3827478
NM_002294.3(LAMP2):c.*2794T>C
NM_002294.3(LAMP2):c.*3452T>C
NM_002294.3(LAMP2):c.*3459G>T
NM_002294.3(LAMP2):c.*3494A>G
NM_002294.3(LAMP2):c.*3583A>G
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.741+11C>T rs149155417
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002351.4(SH2D1A):c.*1100C>A rs141513491
NM_002351.4(SH2D1A):c.*1321A>G rs6649207
NM_002351.4(SH2D1A):c.*1689C>A rs186082107
NM_002351.4(SH2D1A):c.*212G>A rs5958475
NM_002351.4(SH2D1A):c.*257A>T rs556331824
NM_002351.4(SH2D1A):c.*863T>A rs7876065
NM_002351.4(SH2D1A):c.*866A>G rs767771720
NM_002351.4(SH2D1A):c.-247G>A rs190166840
NM_002351.4(SH2D1A):c.-318G>C rs146024883
NM_002351.4(SH2D1A):c.-346C>T rs12164382
NM_002351.4(SH2D1A):c.-74T>A rs142160401
NM_002351.4(SH2D1A):c.346+3A>G rs199706936
NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002488.4(NDUFA2):c.-136A>G rs778594
NM_002488.4(NDUFA2):c.-48A>G rs778593
NM_002495.4(NDUFS4):c.*46G>A rs567
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002578.5(PAK3):c.*463T>C
NM_002578.5(PAK3):c.*515del rs67997504
NM_002578.5(PAK3):c.-15T>C rs758607736
NM_002578.5(PAK3):c.-492G>A
NM_002578.5(PAK3):c.-63A>G
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810
NM_002578.5(PAK3):c.9C>T (p.Asp3=)
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.*158C>T
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792
NM_003179.2(SYP):c.*1055C>T rs17144222
NM_003179.2(SYP):c.*280C>T rs7889267
NM_003413.4(ZIC3):c.*1189A>G rs41300285
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_003413.4(ZIC3):c.*26T>C
NM_003413.4(ZIC3):c.*41A>G rs12387258
NM_003413.4(ZIC3):c.*489A>G rs183286584
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) rs779221820
NM_003477.3(PDHX):c.*123A>G rs59918794
NM_003477.3(PDHX):c.*173G>A rs75863418
NM_003477.3(PDHX):c.*200T>C rs16926653
NM_003477.3(PDHX):c.*27A>C rs74524673
NM_003477.3(PDHX):c.*486G>T rs9326
NM_003477.3(PDHX):c.*644C>A rs7808
NM_003477.3(PDHX):c.*890T>C rs1049333
NM_003477.3(PDHX):c.-23C>A rs201033364
NM_003477.3(PDHX):c.-4C>G rs3818401
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018
NM_003477.3(PDHX):c.241+3G>A rs78878052
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109
NM_003477.3(PDHX):c.641+4T>C rs2767035
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_004544.4(NDUFA10):c.*1189C>T rs66534347
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*1957G>A rs4854069
NM_004544.4(NDUFA10):c.*2309G>A rs1132778
NM_004544.4(NDUFA10):c.*2602C>T rs58261980
NM_004544.4(NDUFA10):c.*308C>T rs8369
NM_004544.4(NDUFA10):c.*3204C>T rs34277046
NM_004544.4(NDUFA10):c.*3450G>A rs7573892
NM_004544.4(NDUFA10):c.*396C>G
NM_004544.4(NDUFA10):c.*414G>A rs13424612
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004544.4(NDUFA10):c.*631C>T rs10933622
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004550.4(NDUFS2):c.*114A>G rs1136224
NM_004550.4(NDUFS2):c.-388G>T rs3813623
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004553.5(NDUFS6):c.310-15T>C rs10058270
NM_004840.3(ARHGEF6):c.*1141G>T rs147013994
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) rs12008084
NM_005006.7(NDUFS1):c.*336G>T rs1044120
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*733A>G rs6707707
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005710.2(PQBP1):c.-87C>T rs150603792
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005710.2(PQBP1):c.264G>A (p.Ser88=) rs398124212
NM_005710.2(PQBP1):c.585C>T (p.Ser195=) rs149688357
NM_007103.4(NDUFV1):c.-66G>A rs73490568
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007130.3(ZNF41):c.*407A>G rs3810664
NM_007130.3(ZNF41):c.-231A>G rs5905607
NM_007130.3(ZNF41):c.374T>G (p.Ile125Arg) rs17147624
NM_007130.3(ZNF41):c.387A>G (p.Ser129=) rs60022654
NM_007130.3(ZNF41):c.65C>T (p.Ser22Leu) rs184685998
NM_007130.3(ZNF41):c.660T>G (p.Asn220Lys) rs34301930
NM_007130.3(ZNF41):c.901T>C (p.Cys301Arg) rs34391244
NM_007137.3(ZNF81):c.*1050A>G rs539059
NM_007137.3(ZNF81):c.*1368C>T rs646881
NM_007137.3(ZNF81):c.*211G>A rs145662469
NM_007137.3(ZNF81):c.*2656T>C rs482066
NM_007137.3(ZNF81):c.*2719C>A rs630493
NM_007137.3(ZNF81):c.*277T>C rs502054
NM_007137.3(ZNF81):c.*2851T>C rs480186
NM_007137.3(ZNF81):c.*4105C>T rs603691
NM_007137.3(ZNF81):c.*4485G>T rs602251
NM_007137.3(ZNF81):c.*4715C>G rs600999
NM_007137.3(ZNF81):c.*5062A>G rs140415993
NM_007137.3(ZNF81):c.*5461G>T rs191181051
NM_007137.3(ZNF81):c.*607A>G rs45588937
NM_007137.3(ZNF81):c.181+8C>T rs11091216
NM_007137.3(ZNF81):c.18C>T (p.Asp6=) rs145478020
NM_007137.3(ZNF81):c.1911G>A (p.Pro637=) rs663514
NM_007137.3(ZNF81):c.350G>T (p.Gly117Val) rs17147793
NM_007137.3(ZNF81):c.638C>A (p.Ala213Glu) rs537825
NM_013995.2(LAMP2):c.-33C>T rs368403767
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_013995.2(LAMP2):c.74G>A (p.Arg25Gln) rs750118236
NM_013995.2(LAMP2):c.929-5T>C rs375341409
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762
NM_014165.4(NDUFAF4):c.*301T>A rs1854268
NM_014165.4(NDUFAF4):c.*323A>T rs9487453
NM_014165.4(NDUFAF4):c.*332A>T rs10499008
NM_014165.4(NDUFAF4):c.*382T>A rs1971475
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806
NM_014271.4(IL1RAPL1):c.-20C>T rs200878713
NM_014271.4(IL1RAPL1):c.-25+14A>C
NM_014271.4(IL1RAPL1):c.-302del rs779869307
NM_014271.4(IL1RAPL1):c.-39G>A rs143054072
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) rs201215945
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg)
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=)
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) rs35305747
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509
NM_014271.4(IL1RAPL1):c.550-4A>G
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) rs748193306
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508
NM_015957.4(APIP):c.-53C>T rs2956113
NM_015957.4(APIP):c.-70T>C rs2956112
NM_015957.4(APIP):c.19C>T (p.Arg7Trp) rs2956114
NM_015957.4(APIP):c.57+77C>T rs16926448
NM_015957.4(APIP):c.57+78A>G rs2016814
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_017547.4(FOXRED1):c.*113G>A rs667627
NM_017547.4(FOXRED1):c.*129C>G rs594318
NM_017547.4(FOXRED1):c.-2T>C rs1786702
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_018444.4(PDP1):c.*36T>C rs4735258
NM_018444.4(PDP1):c.*631G>C rs911
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_021998.5(ZNF711):c.-214_-212GGC[10] rs758475553
NM_022567.2(NYX):c.*509G>C rs3021319
NM_022567.2(NYX):c.-279T>C rs3013122
NM_022567.2(NYX):c.-314A>G rs3013121
NM_022567.2(NYX):c.1217C>G (p.Ala406Gly) rs34169326
NM_022567.2(NYX):c.1253C>G (p.Ser418Cys) rs776029387
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.408+10G>T rs2074896
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_024921.4(POF1B):c.*1431A>C rs16980189
NM_024921.4(POF1B):c.*1626G>A rs16980188
NM_024921.4(POF1B):c.*1849G>A rs73513629
NM_025152.3(NUBPL):c.*122G>C rs4981131
NM_025152.3(NUBPL):c.*1685A>G rs1129622
NM_025152.3(NUBPL):c.*1694G>A rs1129623
NM_025152.3(NUBPL):c.*1874A>G rs10348
NM_025152.3(NUBPL):c.*1888G>A rs7148746
NM_025152.3(NUBPL):c.*273C>T rs76188062
NM_025152.3(NUBPL):c.*312G>A rs10162516
NM_025152.3(NUBPL):c.*444C>T rs10162515
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_025152.3(NUBPL):c.*995T>C rs10136892
NM_080632.2(UPF3B):c.*395G>A rs2239962
NM_080632.2(UPF3B):c.*439A>G rs17261236
NM_080632.2(UPF3B):c.*650A>G rs2496203
NM_080632.2(UPF3B):c.*772G>A rs2428206
NM_153252.5(BRWD3):c.*1036A>C rs41300175
NM_153252.5(BRWD3):c.*1372T>A rs41300257
NM_153252.5(BRWD3):c.*1592G>C rs180892443
NM_153252.5(BRWD3):c.*1992G>A rs193085939
NM_153252.5(BRWD3):c.*2323G>A rs191690327
NM_153252.5(BRWD3):c.*265_*266AC[4] rs35220611
NM_153252.5(BRWD3):c.*2723A>G
NM_153252.5(BRWD3):c.*2831C>T rs3810676
NM_153252.5(BRWD3):c.*3447G>A
NM_153252.5(BRWD3):c.*3483G>A rs116559809
NM_153252.5(BRWD3):c.*3787T>C rs146779779
NM_153252.5(BRWD3):c.*3850G>C rs45627037
NM_153252.5(BRWD3):c.*4223C>T rs184070793
NM_153252.5(BRWD3):c.*4272C>T rs190439155
NM_153252.5(BRWD3):c.*4809T>G rs41311569
NM_153252.5(BRWD3):c.*5133G>T rs41307391
NM_153252.5(BRWD3):c.*5264G>T rs760065405
NM_153252.5(BRWD3):c.*5333G>T rs180875963
NM_153252.5(BRWD3):c.*5461T>G rs41306245
NM_153252.5(BRWD3):c.*5481A>C rs12690214
NM_153252.5(BRWD3):c.*5741G>T
NM_153252.5(BRWD3):c.*5993G>C rs7065450
NM_153252.5(BRWD3):c.*6157C>T rs142555243
NM_153252.5(BRWD3):c.*6331C>G
NM_153252.5(BRWD3):c.*6640T>A rs192201825
NM_153252.5(BRWD3):c.*6862T>C rs2063579
NM_153252.5(BRWD3):c.*6902G>A rs188498975
NM_153252.5(BRWD3):c.-229C>T
NM_153252.5(BRWD3):c.-239_-238TC[6] rs545281823
NM_153252.5(BRWD3):c.-283_-282CT[8] rs199953219
NM_153252.5(BRWD3):c.2044+13A>G
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) rs369118921
NM_153252.5(BRWD3):c.2325+5G>A rs186391561
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=)
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237
NM_153252.5(BRWD3):c.3602+14T>A
NM_153252.5(BRWD3):c.3602+15A>C
NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=)
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) rs146425236
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) rs142085721
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587
NM_153252.5(BRWD3):c.813+10G>C rs55824836
NM_153252.5(BRWD3):c.957C>A (p.Val319=)
NM_171998.4(RAB39B):c.*1006A>G rs138077054
NM_171998.4(RAB39B):c.*1040C>T rs185958813
NM_171998.4(RAB39B):c.*1079A>C rs147409916
NM_171998.4(RAB39B):c.*1347C>T rs17052027
NM_171998.4(RAB39B):c.*1580C>G rs115301020
NM_171998.4(RAB39B):c.*1656= rs3105275
NM_171998.4(RAB39B):c.*1813C>A rs17052030
NM_171998.4(RAB39B):c.*1945A>T rs145867198
NM_171998.4(RAB39B):c.*282G>T rs147213132
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_175614.4(NDUFA11):c.-217A>G rs1056987
NM_175614.4(NDUFA11):c.-88C>A rs8108064

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