ClinVar Miner

List of variants studied 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: 2703
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.206159485A>C
NC_000002.12:g.227164206G>A
NC_000002.12:g.227164546C>T
NC_000003.12:g.58433858A>G rs373907802
NC_000011.10:g.126269056C>A
NC_000011.10:g.67606846G>T
NC_000011.10:g.67606931T>C
NC_000019.10:g.5903990A>G
NM_000032.5(ALAS2):c.*124C>T
NM_000032.5(ALAS2):c.*56A>C rs6612250
NM_000032.5(ALAS2):c.-16+6A>G
NM_000032.5(ALAS2):c.-34C>T rs780642606
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.110G>A (p.Arg37His)
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.1335C>T (p.Ala445=) rs765603040
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
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.1638C>G (p.Pro546=)
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139
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.416-11T>C rs977637650
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) rs754772558
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183
NM_000032.5(ALAS2):c.741C>T (p.His247=) rs1057515971
NM_000032.5(ALAS2):c.824-15C>T rs727467
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.4(ABCD1):c.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*123C>T rs186542134
NM_000033.4(ABCD1):c.*12C>T
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*287G>A
NM_000033.4(ABCD1):c.*334C>G
NM_000033.4(ABCD1):c.*360C>T
NM_000033.4(ABCD1):c.*409C>G
NM_000033.4(ABCD1):c.*412T>C rs1057515815
NM_000033.4(ABCD1):c.*450T>A
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*476A>G
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*530G>A rs67211405
NM_000033.4(ABCD1):c.*548_*554GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*621C>T
NM_000033.4(ABCD1):c.*668C>T rs187420166
NM_000033.4(ABCD1):c.*767C>T
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*802G>T
NM_000033.4(ABCD1):c.*805G>C
NM_000033.4(ABCD1):c.*825C>T
NM_000033.4(ABCD1):c.*830A>G
NM_000033.4(ABCD1):c.*831G>T
NM_000033.4(ABCD1):c.*870G>T rs72616452
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.*901G>A
NM_000033.4(ABCD1):c.*903G>A rs78155328
NM_000033.4(ABCD1):c.*911G>A
NM_000033.4(ABCD1):c.*948C>T
NM_000033.4(ABCD1):c.*969A>G
NM_000033.4(ABCD1):c.*980T>C
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-10C>T rs782754717
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1489-6del rs398123101
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.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
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.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.22C>A (p.Arg8=)
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
NM_000033.4(ABCD1):c.900+7C>T
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu)
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199
NM_000054.6(AVPR2):c.*119G>A rs782425427
NM_000054.6(AVPR2):c.*129C>T rs782022257
NM_000054.6(AVPR2):c.*136T>G rs782141948
NM_000054.6(AVPR2):c.*190A>C
NM_000054.6(AVPR2):c.*204C>T rs184401408
NM_000054.6(AVPR2):c.*257G>A rs73627263
NM_000054.6(AVPR2):c.*282G>A rs782404692
NM_000054.6(AVPR2):c.*320G>A
NM_000054.6(AVPR2):c.*326A>C
NM_000054.6(AVPR2):c.-48G>C rs782204150
NM_000054.6(AVPR2):c.1017G>A (p.Leu339=) rs149557877
NM_000054.6(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208
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.189T>C (p.Ala63=) rs140156037
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.428G>A (p.Arg143His)
NM_000054.6(AVPR2):c.440C>T (p.Ala147Val) rs5200
NM_000054.6(AVPR2):c.485T>C (p.Val162Ala)
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.69C>T (p.Ser23=) rs377144623
NM_000054.6(AVPR2):c.734G>C (p.Gly245Ala)
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000054.6(AVPR2):c.742C>T (p.Arg248Cys)
NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) rs61733407
NM_000054.6(AVPR2):c.769G>A (p.Gly257Ser)
NM_000054.6(AVPR2):c.81G>T (p.Arg27Ser)
NM_000054.6(AVPR2):c.837C>G (p.Val279=)
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.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070del rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.4(COL4A3):c.*1070del rs11297279
NM_000091.4(COL4A3):c.*1070dup rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1165G>A rs28554165
NM_000091.4(COL4A3):c.*1239C>G rs10188531
NM_000091.4(COL4A3):c.*1645del rs886055747
NM_000091.4(COL4A3):c.*1663G>C rs56030607
NM_000091.4(COL4A3):c.*1681A>G rs78758928
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*177A>G rs139638980
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2059C>G rs4290648
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2194A>C rs7567291
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
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.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*286C>T rs6436677
NM_000091.4(COL4A3):c.*315A>C rs2070735
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*589C>T rs55698424
NM_000091.4(COL4A3):c.*595A>T rs56123646
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.*893C>T rs7587228
NM_000091.4(COL4A3):c.*981C>T rs1134745
NM_000091.4(COL4A3):c.-134T>C rs886055734
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.4(COL4A3):c.-16T>C rs886055736
NM_000091.4(COL4A3):c.-26G>T rs747049729
NM_000091.4(COL4A3):c.-81G>C rs886055735
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.3419-14T>G rs116133488
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.71C>G (p.Ala24Gly) rs184704920
NM_000091.5(COL4A3):c.*1238T>C
NM_000091.5(COL4A3):c.*1322T>A
NM_000091.5(COL4A3):c.*1340T>C
NM_000091.5(COL4A3):c.*1360T>A
NM_000091.5(COL4A3):c.*1612A>G
NM_000091.5(COL4A3):c.*1634G>C
NM_000091.5(COL4A3):c.*1639G>A
NM_000091.5(COL4A3):c.*1869C>A
NM_000091.5(COL4A3):c.*2087A>T
NM_000091.5(COL4A3):c.*2266A>G
NM_000091.5(COL4A3):c.*2565T>C
NM_000091.5(COL4A3):c.*261A>T
NM_000091.5(COL4A3):c.*2795T>C
NM_000091.5(COL4A3):c.*2836A>G
NM_000091.5(COL4A3):c.*2853A>C
NM_000091.5(COL4A3):c.*287G>A
NM_000091.5(COL4A3):c.*387A>C
NM_000091.5(COL4A3):c.*454G>T
NM_000091.5(COL4A3):c.*459T>C
NM_000091.5(COL4A3):c.*501T>C
NM_000091.5(COL4A3):c.*656T>A
NM_000091.5(COL4A3):c.*969G>A
NM_000091.5(COL4A3):c.-10C>T
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
NM_000091.5(COL4A3):c.1150+4T>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.1238C>A (p.Ala413Asp)
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374
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.1505-12G>A
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
NM_000091.5(COL4A3):c.1576-15T>G rs56243460
NM_000091.5(COL4A3):c.1576-6C>T
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
NM_000091.5(COL4A3):c.2125+13T>C
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2656+12T>A
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295
NM_000091.5(COL4A3):c.3211-13G>A
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3518-15G>C
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)
NM_000091.5(COL4A3):c.3751+7G>A rs750554079
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.5(COL4A3):c.388-15T>C
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
NM_000091.5(COL4A3):c.4027+11G>T
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854
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.4501C>A (p.Pro1501Thr)
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
NM_000091.5(COL4A3):c.468+9T>C rs754471166
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109
NM_000091.5(COL4A3):c.610-11G>A
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
NM_000091.5(COL4A3):c.766-13G>A rs77431913
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.5(COL4A3):c.828+9T>C
NM_000091.5(COL4A3):c.829-15C>T
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
NM_000091.5(COL4A3):c.87+7G>T rs1358691399
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
NM_000091.5(COL4A3):c.88-4C>T rs148393022
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
NM_000091.5(COL4A3):c.933+14T>C rs55928538
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.*1073del rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.4(COL4A4):c.*2120del rs56983325
NM_000092.4(COL4A4):c.*2120dup rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411del rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005del rs532937469
NM_000092.4(COL4A4):c.*4102dup rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*566del rs11314253
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*774dup rs59918285
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-101-4A>G rs147186690
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-15T>C rs17353916
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.-79C>T rs55836847
NM_000092.4(COL4A4):c.102A>G (p.Gln34=) rs3817617
NM_000092.4(COL4A4):c.1205-9A>G rs370706928
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1833T>C (p.Gly611=) rs145806603
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4731G>A (p.Ala1577=) rs200639109
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4962G>A (p.Thr1654=) rs375911030
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.666G>A (p.Pro222=) rs111945121
NM_000092.4(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.5(COL4A4):c.*1026G>A
NM_000092.5(COL4A4):c.*1064G>C
NM_000092.5(COL4A4):c.*1171C>T
NM_000092.5(COL4A4):c.*1173T>C
NM_000092.5(COL4A4):c.*1190G>A
NM_000092.5(COL4A4):c.*1292A>T
NM_000092.5(COL4A4):c.*1397A>G
NM_000092.5(COL4A4):c.*1464A>T
NM_000092.5(COL4A4):c.*1465T>A
NM_000092.5(COL4A4):c.*1930T>C
NM_000092.5(COL4A4):c.*1960C>A
NM_000092.5(COL4A4):c.*2021A>G
NM_000092.5(COL4A4):c.*222C>G
NM_000092.5(COL4A4):c.*2239T>C
NM_000092.5(COL4A4):c.*2259G>C
NM_000092.5(COL4A4):c.*2422T>C
NM_000092.5(COL4A4):c.*244C>A
NM_000092.5(COL4A4):c.*2487C>A
NM_000092.5(COL4A4):c.*2647C>T
NM_000092.5(COL4A4):c.*2677T>G
NM_000092.5(COL4A4):c.*2732C>T
NM_000092.5(COL4A4):c.*2807T>G
NM_000092.5(COL4A4):c.*2849G>A
NM_000092.5(COL4A4):c.*2855C>T
NM_000092.5(COL4A4):c.*2962A>G
NM_000092.5(COL4A4):c.*3156A>G
NM_000092.5(COL4A4):c.*318T>G
NM_000092.5(COL4A4):c.*3354C>A
NM_000092.5(COL4A4):c.*3397T>C
NM_000092.5(COL4A4):c.*345T>A
NM_000092.5(COL4A4):c.*3791A>C
NM_000092.5(COL4A4):c.*4041A>G
NM_000092.5(COL4A4):c.*4194C>T
NM_000092.5(COL4A4):c.*4347C>T
NM_000092.5(COL4A4):c.*4363G>C
NM_000092.5(COL4A4):c.*4498T>C
NM_000092.5(COL4A4):c.*4545A>G
NM_000092.5(COL4A4):c.*4599T>C
NM_000092.5(COL4A4):c.*491A>G
NM_000092.5(COL4A4):c.*705T>C
NM_000092.5(COL4A4):c.*718G>C
NM_000092.5(COL4A4):c.*747T>C
NM_000092.5(COL4A4):c.*859A>C
NM_000092.5(COL4A4):c.*883C>G
NM_000092.5(COL4A4):c.*888G>A
NM_000092.5(COL4A4):c.*888G>T
NM_000092.5(COL4A4):c.*931C>T
NM_000092.5(COL4A4):c.-102+8G>T
NM_000092.5(COL4A4):c.-2C>T rs2228558
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.1369+15A>C
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
NM_000092.5(COL4A4):c.15C>T (p.His5=)
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
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.1914A>G (p.Pro638=)
NM_000092.5(COL4A4):c.1988-3C>T
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
NM_000092.5(COL4A4):c.2384-5T>C rs3769641
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
NM_000092.5(COL4A4):c.2860+13C>T
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241
NM_000092.5(COL4A4):c.3150+14G>T
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.5(COL4A4):c.3706+13A>G
NM_000092.5(COL4A4):c.3817+9G>C rs13423714
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338
NM_000092.5(COL4A4):c.3974-14T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.5(COL4A4):c.4081+9C>G
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.5(COL4A4):c.4216+11C>T
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
NM_000092.5(COL4A4):c.4523-8T>C rs13419076
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
NM_000092.5(COL4A4):c.817-6T>G
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000108.5(DLD):c.*1027T>G
NM_000108.5(DLD):c.*1074C>G
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1092C>T rs546777301
NM_000108.5(DLD):c.*1145A>T
NM_000108.5(DLD):c.*1231A>G
NM_000108.5(DLD):c.*1300A>G
NM_000108.5(DLD):c.*1307C>T rs568807016
NM_000108.5(DLD):c.*1401G>T
NM_000108.5(DLD):c.*1422C>T
NM_000108.5(DLD):c.*1451T>C rs2108223
NM_000108.5(DLD):c.*1505C>T
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*1688G>A rs8440
NM_000108.5(DLD):c.*1724C>G rs886061913
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1791_*1794del rs760145994
NM_000108.5(DLD):c.*1857A>C rs774099916
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*1877A>G rs182010485
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.*207G>A rs4564
NM_000108.5(DLD):c.*225C>T rs553824101
NM_000108.5(DLD):c.*28G>T rs17154615
NM_000108.5(DLD):c.*355A>G rs886061910
NM_000108.5(DLD):c.*374G>T
NM_000108.5(DLD):c.*394A>G
NM_000108.5(DLD):c.*470G>A rs111619940
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.*498T>G rs886061911
NM_000108.5(DLD):c.*648G>A rs57801571
NM_000108.5(DLD):c.*739G>A
NM_000108.5(DLD):c.*845G>A
NM_000108.5(DLD):c.*855C>T rs116055514
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.*898C>T
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.*978T>C rs2158835
NM_000108.5(DLD):c.-10C>T
NM_000108.5(DLD):c.-8G>T rs372155330
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
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.1465-7C>G rs886061908
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000132.3(F8):c.*1166A>G rs984572217
NM_000132.3(F8):c.*1175G>C rs950453657
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.*426G>A rs782273756
NM_000132.3(F8):c.*78C>T rs782435894
NM_000132.3(F8):c.*862A>G rs1057515824
NM_000132.3(F8):c.-157A>G rs1057515826
NM_000132.3(F8):c.102C>T (p.Asp34=) rs1800283
NM_000132.3(F8):c.1064G>A (p.Arg355Gln)
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) rs375241473
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.2383A>G (p.Arg795Gly) rs2228152
NM_000132.3(F8):c.2535C>A (p.Asp845Glu) rs200316756
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
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.3885C>G (p.Asn1295Lys) rs201393905
NM_000132.3(F8):c.389-9C>T rs35621875
NM_000132.3(F8):c.4442T>C (p.Leu1481Pro) rs1800294
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000132.3(F8):c.6871A>G (p.Thr2291Ala) rs139348729
NM_000132.3(F8):c.6957G>A (p.Pro2319=) rs200902529
NM_000132.3(F8):c.748A>G (p.Met250Val) rs781943293
NM_000132.4(F8):c.*1001C>T
NM_000132.4(F8):c.*1017C>A
NM_000132.4(F8):c.*1362A>T
NM_000132.4(F8):c.*1379A>G
NM_000132.4(F8):c.*1731T>C
NM_000132.4(F8):c.*176G>A
NM_000132.4(F8):c.*288C>A
NM_000132.4(F8):c.*30G>A
NM_000132.4(F8):c.*460G>A
NM_000132.4(F8):c.*908T>G
NM_000132.4(F8):c.*915G>A
NM_000132.4(F8):c.*975A>G
NM_000132.4(F8):c.*992A>G
NM_000132.4(F8):c.1173C>T (p.Arg391=)
NM_000132.4(F8):c.1587A>G (p.Lys529=)
NM_000132.4(F8):c.1830A>G (p.Ile610Met)
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp)
NM_000132.4(F8):c.2217G>A (p.Glu739=)
NM_000132.4(F8):c.2299C>T (p.His767Tyr)
NM_000132.4(F8):c.2696G>A (p.Ser899Asn)
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys)
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn)
NM_000132.4(F8):c.3981G>A (p.Thr1327=)
NM_000132.4(F8):c.4411A>G (p.Met1471Val)
NM_000132.4(F8):c.4467C>G (p.Val1489=)
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg)
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu)
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)
NM_000132.4(F8):c.793A>G (p.Ile265Val)
NM_000132.4(F8):c.978A>G (p.Leu326=)
NM_000132.4(F8):c.989A>G (p.His330Arg)
NM_000156.6(GAMT):c.*146A>C rs659455
NM_000156.6(GAMT):c.*151T>C rs659460
NM_000156.6(GAMT):c.*276C>T rs266810
NM_000156.6(GAMT):c.*311C>G rs266811
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000166.6(GJB1):c.*117C>T rs41307256
NM_000166.6(GJB1):c.*163G>T rs139775308
NM_000166.6(GJB1):c.*22C>T
NM_000166.6(GJB1):c.*277A>G
NM_000166.6(GJB1):c.*309G>A
NM_000166.6(GJB1):c.*34C>A rs113014279
NM_000166.6(GJB1):c.*402G>A
NM_000166.6(GJB1):c.*443G>A
NM_000166.6(GJB1):c.*50G>C
NM_000166.6(GJB1):c.-102G>A
NM_000166.6(GJB1):c.-128G>A rs1057515983
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) rs1057515984
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
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.*1297G>A
NM_000284.4(PDHA1):c.*1306G>A
NM_000284.4(PDHA1):c.*1345A>G
NM_000284.4(PDHA1):c.*1347C>T
NM_000284.4(PDHA1):c.*1376C>T
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.*1458C>T
NM_000284.4(PDHA1):c.*1563C>G
NM_000284.4(PDHA1):c.*1598G>C
NM_000284.4(PDHA1):c.*1624T>C
NM_000284.4(PDHA1):c.*1682T>C
NM_000284.4(PDHA1):c.*1779A>T
NM_000284.4(PDHA1):c.*1869G>C rs15943
NM_000284.4(PDHA1):c.*1926G>C
NM_000284.4(PDHA1):c.*198G>A
NM_000284.4(PDHA1):c.*319G>T
NM_000284.4(PDHA1):c.*321C>T
NM_000284.4(PDHA1):c.*322G>A
NM_000284.4(PDHA1):c.*349A>G
NM_000284.4(PDHA1):c.*392G>A
NM_000284.4(PDHA1):c.*432C>T
NM_000284.4(PDHA1):c.*525C>G
NM_000284.4(PDHA1):c.*549A>G
NM_000284.4(PDHA1):c.*575T>C
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.*729G>A
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.-79C>T
NM_000284.4(PDHA1):c.-88G>A
NM_000284.4(PDHA1):c.-98C>T
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.291+12G>A
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
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.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000307.5(POU3F4):c.*105C>T rs777244703
NM_000307.5(POU3F4):c.*141T>C rs368408951
NM_000307.5(POU3F4):c.*192T>C rs775863791
NM_000307.5(POU3F4):c.*22C>G
NM_000307.5(POU3F4):c.*297T>C
NM_000307.5(POU3F4):c.*41C>A rs1057516008
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849
NM_000381.4(MID1):c.107G>A (p.Arg36His)
NM_000444.6(PHEX):c.*218A>C rs141594056
NM_000444.6(PHEX):c.*227C>G rs765787001
NM_000444.6(PHEX):c.*250A>C rs1057515844
NM_000444.6(PHEX):c.*305G>A
NM_000444.6(PHEX):c.*339A>G rs773553690
NM_000444.6(PHEX):c.*360A>C rs1012718966
NM_000444.6(PHEX):c.*361T>C rs182654518
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_000444.6(PHEX):c.*48G>A rs765479131
NM_000444.6(PHEX):c.*58C>T
NM_000444.6(PHEX):c.-108A>G rs149541983
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A
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.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.118+7G>T rs534550003
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437
NM_000444.6(PHEX):c.1483-7T>C
NM_000444.6(PHEX):c.1586+14A>T
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112
NM_000444.6(PHEX):c.1769-10C>T rs3752433
NM_000444.6(PHEX):c.1966-11T>C rs12014792
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2068C>A (p.His690Asn)
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met)
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267
NM_000444.6(PHEX):c.653A>G (p.His218Arg)
NM_000444.6(PHEX):c.690C>T (p.Ala230=)
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
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_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521
NM_000531.6(OTC):c.*105C>T rs1036076773
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.*175T>C
NM_000531.6(OTC):c.*276A>G rs1016109235
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.216+10A>G
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.299-8T>A rs73196229
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.718-14T>C rs55722856
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.814G>A (p.Glu272Lys)
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.4(PDHB):c.*160A>G
NM_000925.4(PDHB):c.*173C>T
NM_000925.4(PDHB):c.*199T>G rs886058777
NM_000925.4(PDHB):c.*201T>C
NM_000925.4(PDHB):c.*243A>C rs1126722
NM_000925.4(PDHB):c.*296C>G rs7231
NM_000925.4(PDHB):c.*328A>G
NM_000925.4(PDHB):c.*353T>C rs1126735
NM_000925.4(PDHB):c.*356A>G rs1126737
NM_000925.4(PDHB):c.*360A>G rs886058776
NM_000925.4(PDHB):c.*365T>A
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*77C>T
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.*99C>T rs7230
NM_000925.4(PDHB):c.-12G>A
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.45C>G (p.Val15=)
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A
NM_001018113.3(FANCB):c.*14T>C rs2375726
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.*33T>C rs187611308
NM_001018113.3(FANCB):c.*66T>G rs143434225
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-229T>G rs149617434
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.-232G>A rs756766337
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
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.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
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.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
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.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001032382.2(PQBP1):c.*3C>T
NM_001032382.2(PQBP1):c.*8G>A
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=)
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=)
NM_001032382.2(PQBP1):c.642-9C>A
NM_001039891.2(ZNF674):c.*2120A>C rs5952893
NM_001039891.3(ZNF674):c.*1120_*1121del rs1491247337
NM_001039891.3(ZNF674):c.*1121A>T rs371158087
NM_001039891.3(ZNF674):c.*1161G>A rs55678135
NM_001039891.3(ZNF674):c.*1232C>T rs148701104
NM_001039891.3(ZNF674):c.*1284C>T rs55646680
NM_001039891.3(ZNF674):c.*1562A>G rs1057515887
NM_001039891.3(ZNF674):c.*1710G>A rs924885911
NM_001039891.3(ZNF674):c.*1722G>A rs142380680
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.*769C>T rs139157714
NM_001039891.3(ZNF674):c.*866G>C rs183973467
NM_001039891.3(ZNF674):c.-101A>G rs1057515889
NM_001039891.3(ZNF674):c.-141+15G>A rs68019248
NM_001039891.3(ZNF674):c.-149G>A rs184123294
NM_001039891.3(ZNF674):c.-149G>C rs184123294
NM_001039891.3(ZNF674):c.1028C>T (p.Thr343Met) rs61730637
NM_001039891.3(ZNF674):c.1693A>C (p.Lys565Gln) rs377222456
NM_001039891.3(ZNF674):c.425G>T (p.Arg142Ile) rs201330464
NM_001039891.3(ZNF674):c.601C>T (p.Arg201Ter) rs182004761
NM_001039891.3(ZNF674):c.707A>G (p.Lys236Arg) rs201621696
NM_001039891.3(ZNF674):c.74T>G (p.Leu25Arg) rs180994790
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.*1924A>T rs761928368
NM_001122606.1(LAMP2):c.*192dup rs113549733
NM_001122606.1(LAMP2):c.*2019A>G rs943561186
NM_001122606.1(LAMP2):c.*2122A>G rs765371462
NM_001122606.1(LAMP2):c.*2124del rs754879365
NM_001122606.1(LAMP2):c.*2199A>G rs2748
NM_001122606.1(LAMP2):c.*2209A>T rs113285013
NM_001122606.1(LAMP2):c.*2333A>G rs778592348
NM_001122606.1(LAMP2):c.*409G>A rs5957380
NM_001122606.1(LAMP2):c.*410T>C rs41300908
NM_001122606.1(LAMP2):c.*508_*511GTTA[1] rs764018077
NM_001122606.1(LAMP2):c.*620_*622GTT[3] rs199705754
NM_001122606.1(LAMP2):c.*838C>A rs1057515737
NM_001122606.1(LAMP2):c.*848T>C rs185627568
NM_001122606.1(LAMP2):c.*850T>C rs975386272
NM_001122606.1(LAMP2):c.1094-1005dup rs373005118
NM_001122606.1(LAMP2):c.1094-1025C>T rs1024440041
NM_001122606.1(LAMP2):c.1094-1065A>G rs755434692
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.1094-1506A>T rs1004327482
NM_001122606.1(LAMP2):c.1094-159A>C rs1057515739
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.1094-1844G>A rs763861761
NM_001122606.1(LAMP2):c.1094-1976A>C rs887326511
NM_001122606.1(LAMP2):c.1094-2005G>A rs1057515743
NM_001122606.1(LAMP2):c.1094-2044A>G rs1057515744
NM_001122606.1(LAMP2):c.1094-2111A>G rs41312757
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.1094-549AT[8] rs753399289
NM_001122606.1(LAMP2):c.1094-549AT[9] rs753399289
NM_001122606.1(LAMP2):c.1094-692C>G rs200014321
NM_001122606.1(LAMP2):c.1133T>A (p.Ile378Asn) rs1057515738
NM_001135024.1(PDHX):c.115+15G>A rs886048246
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_001135024.1(PDHX):c.115+8C>A
NM_001166158.1(PDHX):c.-202A>G rs113073242
NM_001166158.1(PDHX):c.-208C>T rs555380381
NM_001166158.1(PDHX):c.-271G>T rs780153979
NM_001166158.1(PDHX):c.-272G>A rs2956111
NM_001166159.1(NDUFS2):c.*330_*331GT[14] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[16] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[18] rs10629771
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.*1940T>C rs755490620
NM_001167.3(XIAP):c.*1958G>A rs41309540
NM_001167.3(XIAP):c.*2401C>T rs771727226
NM_001167.3(XIAP):c.*2521A>G rs746553843
NM_001167.3(XIAP):c.*253C>T rs1057515749
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.*3201A>G rs1057515752
NM_001167.3(XIAP):c.*3205T>C rs777738703
NM_001167.3(XIAP):c.*3383T>C rs17330651
NM_001167.3(XIAP):c.*3573G>A rs1037858715
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.*3997A>G rs1057515755
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.*6211C>T rs1022688672
NM_001167.3(XIAP):c.*6216G>A rs1057515760
NM_001167.3(XIAP):c.*6220C>T rs370656891
NM_001167.3(XIAP):c.*6221G>A rs757596272
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.*870G>C rs185823003
NM_001167.3(XIAP):c.1100A>G (p.Asp367Gly) rs200273554
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_001167.3(XIAP):c.933G>A (p.Lys311=) rs749597959
NM_001167.3(XIAP):c.962C>G (p.Ala321Gly) rs182340753
NM_001167.4(XIAP):c.*12A>G rs28382740
NM_001167.4(XIAP):c.*1481C>T
NM_001167.4(XIAP):c.*1705A>G
NM_001167.4(XIAP):c.*1869G>A
NM_001167.4(XIAP):c.*1904G>A
NM_001167.4(XIAP):c.*1950C>T
NM_001167.4(XIAP):c.*2488C>T
NM_001167.4(XIAP):c.*3408G>T
NM_001167.4(XIAP):c.*3544G>A
NM_001167.4(XIAP):c.*3547C>G
NM_001167.4(XIAP):c.*3572A>G
NM_001167.4(XIAP):c.*3589A>C
NM_001167.4(XIAP):c.*3673C>T
NM_001167.4(XIAP):c.*3845A>G
NM_001167.4(XIAP):c.*4149A>G
NM_001167.4(XIAP):c.*4336T>G
NM_001167.4(XIAP):c.*4658C>T
NM_001167.4(XIAP):c.*4691G>A
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.*5986G>A
NM_001167.4(XIAP):c.*6009C>T
NM_001167.4(XIAP):c.*6010G>A
NM_001167.4(XIAP):c.*6256T>C
NM_001167.4(XIAP):c.*6566G>A
NM_001167.4(XIAP):c.*866A>G
NM_001167.4(XIAP):c.*93T>G
NM_001167.4(XIAP):c.-142G>C
NM_001167.4(XIAP):c.1237G>A (p.Asp413Asn)
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583
NM_001167.4(XIAP):c.1317G>C (p.Glu439Asp)
NM_001185012.1(NDUFA2):c.-114T>A
NM_001193375.2(NDUFA11):c.314-1384dup rs1599691161
NM_001271696.3(ABCB7):c.*113A>G
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
NM_001271696.3(ABCB7):c.1935+5G>C rs763223675
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)
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_001322019.1(NDUFA10):c.-87A>C rs886055827
NM_001322019.1(NDUFA10):c.-92C>T rs559797625
NM_001322019.1(NDUFA10):c.-93G>T rs577432343
NM_001330574.2(ZNF711):c.*118C>T rs907642064
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.*169C>T
NM_001330574.2(ZNF711):c.*188A>G rs1057516016
NM_001330574.2(ZNF711):c.*272G>A rs187954106
NM_001330574.2(ZNF711):c.*47A>G rs755503652
NM_001330574.2(ZNF711):c.*524C>T
NM_001330574.2(ZNF711):c.*540T>C rs761918833
NM_001330574.2(ZNF711):c.*632A>G rs6653049
NM_001330574.2(ZNF711):c.*763G>A rs779266566
NM_001330574.2(ZNF711):c.*965T>A
NM_001330574.2(ZNF711):c.-286+5C>T rs41311563
NM_001330574.2(ZNF711):c.-297A>T
NM_001330574.2(ZNF711):c.-316T>A rs760150680
NM_001330574.2(ZNF711):c.-350G>T rs1057516013
NM_001330574.2(ZNF711):c.-449A>G rs375972814
NM_001330574.2(ZNF711):c.1073C>G (p.Ser358Cys)
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile) rs200444579
NM_001330574.2(ZNF711):c.1464C>T (p.Val488=) rs140843429
NM_001330574.2(ZNF711):c.1773A>G (p.Gln591=)
NM_001330574.2(ZNF711):c.1926C>A (p.Asp642Glu)
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) rs138675194
NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=)
NM_001330574.2(ZNF711):c.2162C>T (p.Pro721Leu) rs1057516014
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.*140G>A
NM_001378477.1(NYX):c.*152A>G
NM_001378477.1(NYX):c.*383G>T
NM_001378477.1(NYX):c.*744C>T
NM_001378477.1(NYX):c.-42+99T>C
NM_001378477.1(NYX):c.163C>T (p.Arg55Trp)
NM_001378477.1(NYX):c.222G>A (p.Leu74=)
NM_001378477.1(NYX):c.383C>T (p.Ala128Val)
NM_001378477.1(NYX):c.660C>G (p.Ala220=)
NM_001378477.1(NYX):c.737C>T (p.Pro246Leu)
NM_001378477.1(NYX):c.802C>G (p.Arg268Gly)
NM_001931.4(DLAT):c.*1232_*1235dupAGGA rs368743837
NM_001931.4(DLAT):c.-137G>A rs886047692
NM_001931.4(DLAT):c.-156C>G rs115067052
NM_001931.4(DLAT):c.-157G>A rs587688778
NM_001931.4(DLAT):c.-203C>T rs781987834
NM_001931.4(DLAT):c.-212C>G rs587656558
NM_001931.4(DLAT):c.-222C>T rs587750751
NM_001931.4(DLAT):c.-338T>C rs587698124
NM_001931.4(DLAT):c.-383T>A rs886047691
NM_001931.4(DLAT):c.-471C>T rs886047690
NM_001931.4(DLAT):c.-500C>T rs886047689
NM_001931.4(DLAT):c.-572G>A rs183456915
NM_001931.4(DLAT):c.-590G>A rs587721916
NM_001931.4(DLAT):c.-598C>T rs78298568
NM_001931.4(DLAT):c.-637G>A rs114863504
NM_001931.4(DLAT):c.-647C>A rs190887558
NM_001931.4(DLAT):c.-90G>C rs587665696
NM_001931.5(DLAT):c.*1109C>T rs75608010
NM_001931.5(DLAT):c.*1248G>C rs9822
NM_001931.5(DLAT):c.*1318A>G rs757760280
NM_001931.5(DLAT):c.*1375T>C rs144371275
NM_001931.5(DLAT):c.*1595G>A rs184244244
NM_001931.5(DLAT):c.*168G>A rs77304693
NM_001931.5(DLAT):c.*1704A>G rs886047698
NM_001931.5(DLAT):c.*220T>C rs886047695
NM_001931.5(DLAT):c.*243T>C rs189254124
NM_001931.5(DLAT):c.*246A>G rs886047696
NM_001931.5(DLAT):c.*419A>G rs9371
NM_001931.5(DLAT):c.*622C>A rs139429714
NM_001931.5(DLAT):c.*873T>C rs73568056
NM_001931.5(DLAT):c.*920A>G rs116895022
NM_001931.5(DLAT):c.*96C>A rs534753
NM_001931.5(DLAT):c.*981G>A rs886047697
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.5(DLAT):c.1290+5G>A rs886047694
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.5(DLAT):c.1399-13C>T rs374698306
NM_001931.5(DLAT):c.1692G>A (p.Thr564=) rs185907405
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val) rs371341957
NM_001931.5(DLAT):c.210G>C (p.Arg70=) rs782739576
NM_001931.5(DLAT):c.318C>A (p.Gly106=) rs201070254
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_001931.5(DLAT):c.402T>C (p.Thr134=) rs886047693
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter) rs781991355
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.5(DLAT):c.506+11C>T rs77846695
NM_001931.5(DLAT):c.506+12G>A rs372355218
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.5(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.5(DLAT):c.606G>A (p.Ser202=) rs148153443
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.5(DLAT):c.828G>T (p.Leu276=) rs199835215
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu) rs782527135
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala) rs78320677
NM_002291.3(LAMB1):c.5225-7C>T rs3213673
NM_002294.3(LAMP2):c.*1243A>G
NM_002294.3(LAMP2):c.*1413A>G
NM_002294.3(LAMP2):c.*2147T>C
NM_002294.3(LAMP2):c.*238G>A
NM_002294.3(LAMP2):c.*2476C>T
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.*2955A>G
NM_002294.3(LAMP2):c.*3263T>C
NM_002294.3(LAMP2):c.*3276C>T
NM_002294.3(LAMP2):c.*3413T>C
NM_002294.3(LAMP2):c.*3452T>C
NM_002294.3(LAMP2):c.*3459G>T
NM_002294.3(LAMP2):c.*3488C>T
NM_002294.3(LAMP2):c.*3494A>G
NM_002294.3(LAMP2):c.*3563T>G
NM_002294.3(LAMP2):c.*3583A>G
NM_002294.3(LAMP2):c.*4004C>T
NM_002294.3(LAMP2):c.*4006G>T
NM_002294.3(LAMP2):c.*4664A>G
NM_002294.3(LAMP2):c.*4757A>G
NM_002294.3(LAMP2):c.*975A>G
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
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.629C>A (p.Thr210Lys)
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.*1755G>A rs1049817964
NM_002351.4(SH2D1A):c.*212G>A rs5958475
NM_002351.4(SH2D1A):c.*257A>T rs556331824
NM_002351.4(SH2D1A):c.*647G>A rs770056649
NM_002351.4(SH2D1A):c.*759G>C rs1057515763
NM_002351.4(SH2D1A):c.*860T>C rs1057515764
NM_002351.4(SH2D1A):c.*862T>A rs774701387
NM_002351.4(SH2D1A):c.*863T>A rs7876065
NM_002351.4(SH2D1A):c.*866A>G rs767771720
NM_002351.4(SH2D1A):c.-124T>A rs148700291
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>A (p.Gly16=) rs72610640
NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.*1077G>A
NM_002351.5(SH2D1A):c.*110T>C
NM_002351.5(SH2D1A):c.*1192A>G
NM_002351.5(SH2D1A):c.*1601T>C
NM_002351.5(SH2D1A):c.*1753A>G
NM_002351.5(SH2D1A):c.*26A>T
NM_002351.5(SH2D1A):c.*511A>G
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)
NM_002488.4(NDUFA2):c.-136A>G rs778594
NM_002488.4(NDUFA2):c.-145T>A rs886060017
NM_002488.4(NDUFA2):c.-48A>G rs778593
NM_002488.4(NDUFA2):c.-50G>A rs143857164
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.4(NDUFA2):c.-53A>G rs747127939
NM_002488.4(NDUFA2):c.-63G>A rs748460855
NM_002488.4(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.4(NDUFA2):c.177C>T (p.Ser59=) rs200255683
NM_002488.4(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416
NM_002488.4(NDUFA2):c.40C>G (p.Leu14Val) rs35672074
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val)
NM_002495.4(NDUFS4):c.*46G>A rs567
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A
NM_002495.4(NDUFS4):c.-22C>A rs144843461
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys)
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002495.4(NDUFS4):c.350+6T>C
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)
NM_002496.3(NDUFS8):c.-76C>T rs544094420
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_002496.4(NDUFS8):c.*26T>G rs886048592
NM_002496.4(NDUFS8):c.*40A>G rs61329983
NM_002496.4(NDUFS8):c.*44C>T rs201815115
NM_002496.4(NDUFS8):c.-45A>C rs4147776
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002496.4(NDUFS8):c.199+5G>A rs373522607
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611
NM_002496.4(NDUFS8):c.200-14C>T rs373128833
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938
NM_002496.4(NDUFS8):c.501+12C>G rs372004236
NM_002496.4(NDUFS8):c.502-10C>T rs369961682
NM_002496.4(NDUFS8):c.502-13C>T rs199793417
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
NM_002578.5(PAK3):c.*249G>T
NM_002578.5(PAK3):c.*452del rs1057515732
NM_002578.5(PAK3):c.*463T>C
NM_002578.5(PAK3):c.*515del rs67997504
NM_002578.5(PAK3):c.*83C>T rs1057515731
NM_002578.5(PAK3):c.-15T>C rs758607736
NM_002578.5(PAK3):c.-160G>A
NM_002578.5(PAK3):c.-274G>C
NM_002578.5(PAK3):c.-470G>T
NM_002578.5(PAK3):c.-473G>C
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.492T>A (p.Pro164=) rs1057515729
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002578.5(PAK3):c.601-3dup rs768803846
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528
NM_002578.5(PAK3):c.862A>G (p.Ile288Val)
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810
NM_002578.5(PAK3):c.9C>T (p.Asp3=)
NM_002764.3(PRPS1):c.*159G>A rs747334780
NM_002764.3(PRPS1):c.*166G>A rs371265973
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*389G>C rs5962870
NM_002764.3(PRPS1):c.*538G>C rs1057515727
NM_002764.3(PRPS1):c.*538G>T rs1057515727
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.*762G>T rs768310830
NM_002764.3(PRPS1):c.*88C>T rs1057515726
NM_002764.3(PRPS1):c.*938dup rs1057515728
NM_002764.3(PRPS1):c.-153del rs768856537
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.*137C>T
NM_002764.4(PRPS1):c.*158C>T
NM_002764.4(PRPS1):c.*389G>A
NM_002764.4(PRPS1):c.*423T>A
NM_002764.4(PRPS1):c.*508G>C
NM_002764.4(PRPS1):c.*539G>C
NM_002764.4(PRPS1):c.*539G>T
NM_002764.4(PRPS1):c.*608C>T
NM_002764.4(PRPS1):c.*726C>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.*1128C>G rs782190288
NM_003179.2(SYP):c.*1131G>A rs781914486
NM_003179.2(SYP):c.*1169C>T rs919781140
NM_003179.2(SYP):c.*1239G>A rs181070015
NM_003179.2(SYP):c.*237G>A rs959919923
NM_003179.2(SYP):c.*280C>T rs7889267
NM_003179.2(SYP):c.*582G>A rs73634216
NM_003179.2(SYP):c.*727G>A rs377123834
NM_003179.2(SYP):c.*814A>G rs781882625
NM_003179.2(SYP):c.*969G>A rs782481686
NM_003179.2(SYP):c.-8C>T rs1057515927
NM_003179.2(SYP):c.312C>T (p.Ala104=) rs185819998
NM_003179.2(SYP):c.54G>A (p.Gln18=) rs781815856
NM_003179.2(SYP):c.687C>T (p.Ala229=) rs201427270
NM_003179.2(SYP):c.777C>T (p.Pro259=) rs1057515926
NM_003179.2(SYP):c.868G>T (p.Gly290Trp) rs376222680
NM_003179.2(SYP):c.877G>A (p.Gly293Ser) rs139475570
NM_003413.4(ZIC3):c.*1171_*1173del rs1057515786
NM_003413.4(ZIC3):c.*1189A>G rs41300285
NM_003413.4(ZIC3):c.*1237A>T rs772508899
NM_003413.4(ZIC3):c.*1362T>G
NM_003413.4(ZIC3):c.*1492T>C
NM_003413.4(ZIC3):c.*153A>G
NM_003413.4(ZIC3):c.*1540G>A rs184855783
NM_003413.4(ZIC3):c.*1581G>A
NM_003413.4(ZIC3):c.*1715A>G rs1057515787
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_003413.4(ZIC3):c.*260T>C
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.*750A>G
NM_003413.4(ZIC3):c.*798_*802del rs899320157
NM_003413.4(ZIC3):c.-169A>C
NM_003413.4(ZIC3):c.-335C>T
NM_003413.4(ZIC3):c.-424C>A
NM_003413.4(ZIC3):c.-479C>T rs1022475218
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu)
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) rs78870836
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) rs779221820
NM_003477.3(PDHX):c.*114A>G rs76663700
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.*259G>T rs771515806
NM_003477.3(PDHX):c.*27A>C rs74524673
NM_003477.3(PDHX):c.*331G>C rs555691861
NM_003477.3(PDHX):c.*486G>T rs9326
NM_003477.3(PDHX):c.*644C>A rs7808
NM_003477.3(PDHX):c.*650G>A rs886048249
NM_003477.3(PDHX):c.*662A>T
NM_003477.3(PDHX):c.*742C>T
NM_003477.3(PDHX):c.*743G>A rs577162977
NM_003477.3(PDHX):c.*763G>A rs886048250
NM_003477.3(PDHX):c.*783G>T
NM_003477.3(PDHX):c.*821A>T
NM_003477.3(PDHX):c.*874A>G
NM_003477.3(PDHX):c.*890T>C rs1049333
NM_003477.3(PDHX):c.*904G>T
NM_003477.3(PDHX):c.-23C>A rs201033364
NM_003477.3(PDHX):c.-27C>T
NM_003477.3(PDHX):c.-4C>G rs3818401
NM_003477.3(PDHX):c.-7C>T rs751680964
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
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.1333T>G (p.Phe445Val) rs147948716
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
NM_003477.3(PDHX):c.161-6T>C rs200438675
NM_003477.3(PDHX):c.241+3G>A rs78878052
NM_003477.3(PDHX):c.242-4G>A rs199583315
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)
NM_003477.3(PDHX):c.402A>G (p.Glu134=)
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) rs769476738
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974
NM_003477.3(PDHX):c.542+10T>C rs368960575
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926
NM_003477.3(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744
NM_003477.3(PDHX):c.641+4T>C rs2767035
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser)
NM_004544.4(NDUFA10):c.*1011A>G rs575477219
NM_004544.4(NDUFA10):c.*1047T>C
NM_004544.4(NDUFA10):c.*1057T>G
NM_004544.4(NDUFA10):c.*105G>A rs886055825
NM_004544.4(NDUFA10):c.*1124C>T
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1161C>T
NM_004544.4(NDUFA10):c.*1189C>T rs66534347
NM_004544.4(NDUFA10):c.*1198G>A
NM_004544.4(NDUFA10):c.*1206G>A
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1214C>T rs546735567
NM_004544.4(NDUFA10):c.*1217A>G
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*1245G>A
NM_004544.4(NDUFA10):c.*1262C>T rs759194775
NM_004544.4(NDUFA10):c.*1303C>T
NM_004544.4(NDUFA10):c.*1382C>T
NM_004544.4(NDUFA10):c.*1391C>T
NM_004544.4(NDUFA10):c.*1453G>A
NM_004544.4(NDUFA10):c.*1482C>G
NM_004544.4(NDUFA10):c.*1486C>T
NM_004544.4(NDUFA10):c.*1586A>G
NM_004544.4(NDUFA10):c.*1594G>A
NM_004544.4(NDUFA10):c.*1665C>A
NM_004544.4(NDUFA10):c.*1702G>A
NM_004544.4(NDUFA10):c.*1709T>C
NM_004544.4(NDUFA10):c.*183C>T
NM_004544.4(NDUFA10):c.*1878C>T
NM_004544.4(NDUFA10):c.*1879G>A
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*1915G>A rs144590599
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326
NM_004544.4(NDUFA10):c.*1927G>C
NM_004544.4(NDUFA10):c.*1930C>G
NM_004544.4(NDUFA10):c.*1943A>G
NM_004544.4(NDUFA10):c.*1957G>A rs4854069
NM_004544.4(NDUFA10):c.*1992C>T
NM_004544.4(NDUFA10):c.*2009G>C
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2046T>C
NM_004544.4(NDUFA10):c.*2079A>G
NM_004544.4(NDUFA10):c.*2111G>A rs752139055
NM_004544.4(NDUFA10):c.*2133A>G
NM_004544.4(NDUFA10):c.*2136T>C
NM_004544.4(NDUFA10):c.*2149C>T rs570872300
NM_004544.4(NDUFA10):c.*2192T>A rs886055817
NM_004544.4(NDUFA10):c.*2202C>T
NM_004544.4(NDUFA10):c.*2242T>C
NM_004544.4(NDUFA10):c.*2297T>G rs773090030
NM_004544.4(NDUFA10):c.*2309G>A rs1132778
NM_004544.4(NDUFA10):c.*2350G>A
NM_004544.4(NDUFA10):c.*2382C>A
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.*2455C>G
NM_004544.4(NDUFA10):c.*2495C>T rs78395168
NM_004544.4(NDUFA10):c.*2511C>T
NM_004544.4(NDUFA10):c.*2602C>T rs58261980
NM_004544.4(NDUFA10):c.*2648C>T
NM_004544.4(NDUFA10):c.*2649G>A rs886055815
NM_004544.4(NDUFA10):c.*2659A>C
NM_004544.4(NDUFA10):c.*2685C>A rs114807372
NM_004544.4(NDUFA10):c.*2838C>A
NM_004544.4(NDUFA10):c.*2900G>A
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3009T>C
NM_004544.4(NDUFA10):c.*3052G>A
NM_004544.4(NDUFA10):c.*3067C>T rs564992184
NM_004544.4(NDUFA10):c.*3075T>G rs7588974
NM_004544.4(NDUFA10):c.*308C>T rs8369
NM_004544.4(NDUFA10):c.*3095A>G
NM_004544.4(NDUFA10):c.*3098A>T rs886055813
NM_004544.4(NDUFA10):c.*3113G>A rs886055812
NM_004544.4(NDUFA10):c.*3141C>T rs144864637
NM_004544.4(NDUFA10):c.*3143C>T
NM_004544.4(NDUFA10):c.*3175T>G
NM_004544.4(NDUFA10):c.*3204C>T rs34277046
NM_004544.4(NDUFA10):c.*3205G>A rs886055811
NM_004544.4(NDUFA10):c.*3301C>T
NM_004544.4(NDUFA10):c.*3347C>T
NM_004544.4(NDUFA10):c.*3349G>A rs77216981
NM_004544.4(NDUFA10):c.*3403A>G
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3409G>A
NM_004544.4(NDUFA10):c.*3450G>A rs7573892
NM_004544.4(NDUFA10):c.*3456T>G
NM_004544.4(NDUFA10):c.*3490G>C
NM_004544.4(NDUFA10):c.*3544C>T
NM_004544.4(NDUFA10):c.*3557G>A rs149933652
NM_004544.4(NDUFA10):c.*361A>G rs778261754
NM_004544.4(NDUFA10):c.*3711A>G
NM_004544.4(NDUFA10):c.*3724G>A
NM_004544.4(NDUFA10):c.*372C>T
NM_004544.4(NDUFA10):c.*389C>T rs539829771
NM_004544.4(NDUFA10):c.*396C>G
NM_004544.4(NDUFA10):c.*407C>T rs74614612
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*414G>A rs13424612
NM_004544.4(NDUFA10):c.*428C>T
NM_004544.4(NDUFA10):c.*435A>G
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004544.4(NDUFA10):c.*445C>G
NM_004544.4(NDUFA10):c.*489A>G rs886055824
NM_004544.4(NDUFA10):c.*546G>A rs192485848
NM_004544.4(NDUFA10):c.*548G>C
NM_004544.4(NDUFA10):c.*631C>T rs10933622
NM_004544.4(NDUFA10):c.*632G>A
NM_004544.4(NDUFA10):c.*647C>T rs116254382
NM_004544.4(NDUFA10):c.*679A>G
NM_004544.4(NDUFA10):c.*732T>G
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*765C>T
NM_004544.4(NDUFA10):c.*804T>C
NM_004544.4(NDUFA10):c.*857G>C
NM_004544.4(NDUFA10):c.*861C>G
NM_004544.4(NDUFA10):c.*925C>G rs149563558
NM_004544.4(NDUFA10):c.-34C>T
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.-38T>G rs374970309
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu)
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val)
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=)
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)
NM_004544.4(NDUFA10):c.460+5A>G
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro)
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg)
NM_004544.4(NDUFA10):c.548-9A>G rs147876332
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296
NM_004544.4(NDUFA10):c.558C>T (p.His186=)
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=)
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004544.4(NDUFA10):c.749+11C>T rs200760509
NM_004544.4(NDUFA10):c.749+5G>A
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly)
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr)
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly)
NM_004550.4(NDUFS2):c.*108A>T rs191955041
NM_004550.4(NDUFS2):c.*108_*109dup rs886045468
NM_004550.4(NDUFS2):c.*114A>G rs1136224
NM_004550.4(NDUFS2):c.*187G>A rs886045469
NM_004550.4(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_004550.4(NDUFS2):c.-156G>A rs886045457
NM_004550.4(NDUFS2):c.-159C>A rs886045456
NM_004550.4(NDUFS2):c.-20C>T rs201554004
NM_004550.4(NDUFS2):c.-218G>A rs563669084
NM_004550.4(NDUFS2):c.-223C>G rs74124661
NM_004550.4(NDUFS2):c.-28C>T rs886045458
NM_004550.4(NDUFS2):c.-298C>G rs41270845
NM_004550.4(NDUFS2):c.-346G>A rs189165754
NM_004550.4(NDUFS2):c.-388G>A rs3813623
NM_004550.4(NDUFS2):c.-388G>T rs3813623
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp) rs144411579
NM_004550.4(NDUFS2):c.117A>G (p.Pro39=) rs145578059
NM_004550.4(NDUFS2):c.1212+7A>G rs36233987
NM_004550.4(NDUFS2):c.1212G>A (p.Lys404=) rs145959971
NM_004550.4(NDUFS2):c.1213-9del rs750838845
NM_004550.4(NDUFS2):c.1215A>G (p.Gly405=) rs886045464
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.1354+10C>A rs201275792
NM_004550.4(NDUFS2):c.1354+5G>A rs190184430
NM_004550.4(NDUFS2):c.1355-4C>G rs147235167
NM_004550.4(NDUFS2):c.1367T>C (p.Ile456Thr)
NM_004550.4(NDUFS2):c.1371A>G (p.Val457=) rs149953813
NM_004550.4(NDUFS2):c.162A>G (p.Pro54=) rs569128565
NM_004550.4(NDUFS2):c.337A>G (p.Ile113Val) rs754241926
NM_004550.4(NDUFS2):c.441C>T (p.Asn147=) rs140324736
NM_004550.4(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_004550.4(NDUFS2):c.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.515-3C>A rs149789018
NM_004550.4(NDUFS2):c.540G>A (p.Leu180=) rs41428447
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004550.4(NDUFS2):c.628-12C>T rs202121443
NM_004550.4(NDUFS2):c.702+14_702+17dup rs776704187
NM_004550.4(NDUFS2):c.866+8G>A rs142594036
NM_004550.4(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) rs150667550
NM_004550.4(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_004550.4(NDUFS2):c.95+14C>T rs751472475
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004550.4(NDUFS2):c.986+12A>G rs11265565
NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_004551.2(NDUFS3):c.-30C>T rs375483884
NM_004551.2(NDUFS3):c.-41T>C rs750965789
NM_004551.3(NDUFS3):c.*32G>A
NM_004551.3(NDUFS3):c.*39C>T
NM_004551.3(NDUFS3):c.-15C>G
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) rs141187412
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) rs1555198759
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys)
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.381+6T>C rs377579231
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His)
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494
NM_004551.3(NDUFS3):c.628-7C>T rs11039306
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His)
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) rs3740654
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_004553.5(NDUFS6):c.*15C>T rs200445799
NM_004553.5(NDUFS6):c.*27A>G rs370587409
NM_004553.5(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274
NM_004553.5(NDUFS6):c.198C>T (p.Asn66=) rs140887831
NM_004553.5(NDUFS6):c.24C>T (p.Cys8=) rs886060511
NM_004553.5(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886
NM_004553.5(NDUFS6):c.27G>C (p.Arg9=) rs886060512
NM_004553.5(NDUFS6):c.310-15T>C rs10058270
NM_004553.5(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_004553.6(NDUFS6):c.*46C>T
NM_004553.6(NDUFS6):c.*99G>C
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val)
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875
NM_004840.2(ARHGEF6):c.-222T>A rs968152666
NM_004840.2(ARHGEF6):c.-232G>A rs183947764
NM_004840.2(ARHGEF6):c.-324T>C rs760853921
NM_004840.2(ARHGEF6):c.-92_-91delTA rs757215282
NM_004840.3(ARHGEF6):c.*1028A>G rs747024117
NM_004840.3(ARHGEF6):c.*109_*110TC[6] rs1057515778
NM_004840.3(ARHGEF6):c.*1141G>T rs147013994
NM_004840.3(ARHGEF6):c.*131_*134del rs775186031
NM_004840.3(ARHGEF6):c.*149G>A rs772239037
NM_004840.3(ARHGEF6):c.*1531C>T rs181090402
NM_004840.3(ARHGEF6):c.*158A>G rs112837910
NM_004840.3(ARHGEF6):c.*176G>A rs745563328
NM_004840.3(ARHGEF6):c.*179C>T rs146018376
NM_004840.3(ARHGEF6):c.*1817dup rs751450350
NM_004840.3(ARHGEF6):c.*1828A>G rs762807348
NM_004840.3(ARHGEF6):c.*1952A>G rs1057515775
NM_004840.3(ARHGEF6):c.*197_*199GTT[1] rs770569536
NM_004840.3(ARHGEF6):c.*2021A>G rs151143657
NM_004840.3(ARHGEF6):c.*2062T>C rs142057050
NM_004840.3(ARHGEF6):c.*2082T>G rs144027474
NM_004840.3(ARHGEF6):c.*2126G>A rs1057515774
NM_004840.3(ARHGEF6):c.*220T>G rs926836865
NM_004840.3(ARHGEF6):c.*2346C>T rs41312580
NM_004840.3(ARHGEF6):c.*2395C>G rs751385205
NM_004840.3(ARHGEF6):c.*2469C>T rs189644416
NM_004840.3(ARHGEF6):c.*38C>T rs747771125
NM_004840.3(ARHGEF6):c.*545C>T rs182548859
NM_004840.3(ARHGEF6):c.*595C>T rs1057515776
NM_004840.3(ARHGEF6):c.*847C>T rs564202199
NM_004840.3(ARHGEF6):c.*87T>C rs1008606304
NM_004840.3(ARHGEF6):c.*938A>C rs768824651
NM_004840.3(ARHGEF6):c.1190C>G (p.Thr397Ser) rs532348958
NM_004840.3(ARHGEF6):c.1446T>C (p.Ser482=) rs775489071
NM_004840.3(ARHGEF6):c.166-11T>C rs140322310
NM_004840.3(ARHGEF6):c.183A>G (p.Gln61=) rs1057515782
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) rs12008084
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300
NM_004840.3(ARHGEF6):c.468G>A (p.Thr156=) rs1057515781
NM_004840.3(ARHGEF6):c.642C>T (p.Val214=) rs1057515780
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile) rs75329154
NM_004840.3(ARHGEF6):c.942C>T (p.His314=) rs34274521
NM_005006.7(NDUFS1):c.*1077A>T
NM_005006.7(NDUFS1):c.*130A>C
NM_005006.7(NDUFS1):c.*151T>C rs533179154
NM_005006.7(NDUFS1):c.*158T>C rs3770989
NM_005006.7(NDUFS1):c.*256C>T rs10198830
NM_005006.7(NDUFS1):c.*27C>T rs369746514
NM_005006.7(NDUFS1):c.*336G>T rs1044120
NM_005006.7(NDUFS1):c.*341A>G
NM_005006.7(NDUFS1):c.*399G>A rs77000728
NM_005006.7(NDUFS1):c.*426T>G
NM_005006.7(NDUFS1):c.*438C>T rs561980718
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*459A>G
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*53T>G
NM_005006.7(NDUFS1):c.*561T>C rs146538309
NM_005006.7(NDUFS1):c.*574T>G
NM_005006.7(NDUFS1):c.*641A>G rs886055501
NM_005006.7(NDUFS1):c.*733A>G rs6707707
NM_005006.7(NDUFS1):c.*756A>T rs755460274
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A
NM_005006.7(NDUFS1):c.*866A>C rs749790811
NM_005006.7(NDUFS1):c.*938C>T
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.*966A>G rs755776989
NM_005006.7(NDUFS1):c.-101G>A
NM_005006.7(NDUFS1):c.-31A>G
NM_005006.7(NDUFS1):c.-38T>G
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.-61G>C
NM_005006.7(NDUFS1):c.-64T>C
NM_005006.7(NDUFS1):c.-73C>A
NM_005006.7(NDUFS1):c.-75A>G
NM_005006.7(NDUFS1):c.-76G>A
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.1393-7T>A
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.1554-1G>A rs1056433452
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964
NM_005006.7(NDUFS1):c.261+6T>C
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-25dup rs34184317
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.7(NDUFS1):c.421-7A>G rs192949406
NM_005006.7(NDUFS1):c.551+14C>A rs10206644
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177
NM_005006.7(NDUFS1):c.63T>C (p.Val21=)
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)
NM_005006.7(NDUFS1):c.737+1G>A rs935776676
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)
NM_005710.2(PQBP1):c.-214A>G rs1006576758
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_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.*79C>T rs76839099
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-45T>G rs373940385
NM_007103.4(NDUFV1):c.-61A>G
NM_007103.4(NDUFV1):c.-66G>A rs73490568
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu)
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu)
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) rs147719815
NM_007103.4(NDUFV1):c.1308+7A>T
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln)
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.4(NDUFV1):c.155+12C>T rs199963966
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.326+12G>A rs184136353
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr)
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589
NM_007103.4(NDUFV1):c.700+12C>T rs200417926
NM_007103.4(NDUFV1):c.72+15G>T rs187400726
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val)
NM_007130.3(ZNF41):c.*1033A>G rs1057515901
NM_007130.3(ZNF41):c.*407A>G rs3810664
NM_007130.3(ZNF41):c.*416A>T rs140632042
NM_007130.3(ZNF41):c.*469C>T rs1057515902
NM_007130.3(ZNF41):c.*49T>C rs368268713
NM_007130.3(ZNF41):c.*957A>G rs186160175
NM_007130.3(ZNF41):c.*982A>C rs751899353
NM_007130.3(ZNF41):c.-224G>A rs189238889
NM_007130.3(ZNF41):c.-231A>G rs5905607
NM_007130.3(ZNF41):c.-422_-421insGCGCGCACGC rs372112867
NM_007130.3(ZNF41):c.-42G>A rs199983184
NM_007130.3(ZNF41):c.-433_-428GCACGC[3] rs200168272
NM_007130.3(ZNF41):c.-514C>T rs1025319944
NM_007130.3(ZNF41):c.-530G>T rs754233603
NM_007130.3(ZNF41):c.-547C>G rs980619364
NM_007130.3(ZNF41):c.1275A>T (p.Ala425=) rs769418347
NM_007130.3(ZNF41):c.1323C>T (p.Cys441=) rs746076782
NM_007130.3(ZNF41):c.1398G>A (p.Pro466=) rs61739400
NM_007130.3(ZNF41):c.1578T>A (p.Ala526=) rs148848609
NM_007130.3(ZNF41):c.160G>C (p.Asp54His) rs369407023
NM_007130.3(ZNF41):c.1700A>G (p.Lys567Arg) rs188241859
NM_007130.3(ZNF41):c.1997C>T (p.Ala666Val) rs144970008
NM_007130.3(ZNF41):c.2114G>A (p.Arg705His) rs144904486
NM_007130.3(ZNF41):c.2116C>T (p.Leu706Phe) rs201527995
NM_007130.3(ZNF41):c.2309G>C (p.Ser770Thr) rs201039022
NM_007130.3(ZNF41):c.2310T>C (p.Ser770=) rs148100650
NM_007130.3(ZNF41):c.281A>G (p.His94Arg) rs779348860
NM_007130.3(ZNF41):c.332C>T (p.Pro111Leu) rs104894955
NM_007130.3(ZNF41):c.348C>T (p.Phe116=) rs1057515903
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.590A>G (p.Lys197Arg) rs148585367
NM_007130.3(ZNF41):c.627T>C (p.Ser209=) rs147511357
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.664A>G (p.Asn222Asp) rs745547425
NM_007130.3(ZNF41):c.73-7G>A rs3827423
NM_007130.3(ZNF41):c.743A>G (p.Tyr248Cys) rs140726688
NM_007130.3(ZNF41):c.746A>C (p.Glu249Ala) rs34445771
NM_007130.3(ZNF41):c.786G>A (p.Gln262=) rs2498490
NM_007130.3(ZNF41):c.901T>C (p.Cys301Arg) rs34391244
NM_007130.3(ZNF41):c.945T>G (p.Asp315Glu) rs2498170
NM_007137.3(ZNF81):c.*1029G>T rs1023977933
NM_007137.3(ZNF81):c.*1050A>G rs539059
NM_007137.3(ZNF81):c.*1170G>T rs565670321
NM_007137.3(ZNF81):c.*1216G>C rs190335043
NM_007137.3(ZNF81):c.*1368C>T rs646881
NM_007137.3(ZNF81):c.*176del rs781900721
NM_007137.3(ZNF81):c.*1782C>T rs782284307
NM_007137.3(ZNF81):c.*2050C>T rs1057515912
NM_007137.3(ZNF81):c.*211G>A rs145662469
NM_007137.3(ZNF81):c.*2171_*2172del rs1057515913
NM_007137.3(ZNF81):c.*2191C>T rs782062721
NM_007137.3(ZNF81):c.*2268del rs1057515914
NM_007137.3(ZNF81):c.*2549A>G rs148356633
NM_007137.3(ZNF81):c.*2605G>A rs782376829
NM_007137.3(ZNF81):c.*2624A>G rs141557587
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.*284T>C rs187907741
NM_007137.3(ZNF81):c.*2851T>C rs480186
NM_007137.3(ZNF81):c.*2988G>A rs782291969
NM_007137.3(ZNF81):c.*3399T>A rs1057515915
NM_007137.3(ZNF81):c.*3474T>C rs879956981
NM_007137.3(ZNF81):c.*3525A>C rs782299682
NM_007137.3(ZNF81):c.*3640A>G rs781963956
NM_007137.3(ZNF81):c.*3674C>T rs922923130
NM_007137.3(ZNF81):c.*3879C>G rs782815002
NM_007137.3(ZNF81):c.*3G>A rs1057515907
NM_007137.3(ZNF81):c.*4003G>A rs192009953
NM_007137.3(ZNF81):c.*4053T>G rs5953122
NM_007137.3(ZNF81):c.*4100G>A rs782467926
NM_007137.3(ZNF81):c.*4105C>T rs603691
NM_007137.3(ZNF81):c.*4164A>G rs1057515918
NM_007137.3(ZNF81):c.*4304A>G rs7878660
NM_007137.3(ZNF81):c.*4485G>T rs602251
NM_007137.3(ZNF81):c.*455G>A rs191380891
NM_007137.3(ZNF81):c.*456T>A rs183606613
NM_007137.3(ZNF81):c.*4715C>G rs600999
NM_007137.3(ZNF81):c.*4848G>A rs781982171
NM_007137.3(ZNF81):c.*5062A>G rs140415993
NM_007137.3(ZNF81):c.*5127G>C rs1057515919
NM_007137.3(ZNF81):c.*5212A>G rs1057515920
NM_007137.3(ZNF81):c.*5311G>A rs1017729265
NM_007137.3(ZNF81):c.*5422A>G rs1026039563
NM_007137.3(ZNF81):c.*5461G>T rs191181051
NM_007137.3(ZNF81):c.*55C>G rs782807346
NM_007137.3(ZNF81):c.*607A>G rs45588937
NM_007137.3(ZNF81):c.*630A>G rs782306405
NM_007137.3(ZNF81):c.*65A>G rs192847204
NM_007137.3(ZNF81):c.*699C>T rs782777974
NM_007137.3(ZNF81):c.*720A>G rs781983142
NM_007137.3(ZNF81):c.*802C>T rs944828411
NM_007137.3(ZNF81):c.*975C>G rs1057515910
NM_007137.3(ZNF81):c.-116A>G rs1057515906
NM_007137.3(ZNF81):c.-146C>T rs116316712
NM_007137.3(ZNF81):c.1080C>T (p.Cys360=) rs377731546
NM_007137.3(ZNF81):c.130C>T (p.Arg44Cys) rs782012314
NM_007137.3(ZNF81):c.147A>G (p.Val49=) rs782661971
NM_007137.3(ZNF81):c.1495A>G (p.Ile499Val) rs182239885
NM_007137.3(ZNF81):c.1539C>A (p.Leu513=) rs186529018
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.1923C>T (p.Ser641=) rs375228884
NM_007137.3(ZNF81):c.229G>A (p.Glu77Lys) rs201504654
NM_007137.3(ZNF81):c.277+10T>C rs782441233
NM_007137.3(ZNF81):c.350G>T (p.Gly117Val) rs17147793
NM_007137.3(ZNF81):c.417A>G (p.Ile139Met) rs189835360
NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser) rs41312157
NM_007137.3(ZNF81):c.554C>T (p.Ser185Leu) rs186251256
NM_007137.3(ZNF81):c.638C>A (p.Ala213Glu) rs537825
NM_007137.3(ZNF81):c.8C>T (p.Ala3Val) rs183846665
NM_007137.3(ZNF81):c.999T>C (p.Thr333=) rs369210201
NM_013995.2(LAMP2):c.-103G>C rs1057515747
NM_013995.2(LAMP2):c.-136C>G
NM_013995.2(LAMP2):c.-154T>C rs999307628
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_013995.2(LAMP2):c.-33C>T rs368403767
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_013995.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_013995.2(LAMP2):c.601A>G (p.Ile201Val) rs1362738445
NM_013995.2(LAMP2):c.74G>A (p.Arg25Gln) rs750118236
NM_013995.2(LAMP2):c.929-5T>C rs375341409
NM_013995.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825
NM_014165.4(NDUFAF4):c.*119T>C
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411
NM_014165.4(NDUFAF4):c.*1213C>T
NM_014165.4(NDUFAF4):c.*1214G>A
NM_014165.4(NDUFAF4):c.*1247A>G
NM_014165.4(NDUFAF4):c.*1299G>A
NM_014165.4(NDUFAF4):c.*1334G>A
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*1368A>G
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516
NM_014165.4(NDUFAF4):c.*14A>C
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824
NM_014165.4(NDUFAF4):c.*1728G>A
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*289C>T
NM_014165.4(NDUFAF4):c.*294T>G rs555318888
NM_014165.4(NDUFAF4):c.*301T>A rs1854268
NM_014165.4(NDUFAF4):c.*305C>A
NM_014165.4(NDUFAF4):c.*323A>T rs9487453
NM_014165.4(NDUFAF4):c.*332A>T rs10499008
NM_014165.4(NDUFAF4):c.*350A>C rs41288598
NM_014165.4(NDUFAF4):c.*382T>A rs1971475
NM_014165.4(NDUFAF4):c.*387C>T rs41288596
NM_014165.4(NDUFAF4):c.*459A>G rs560563894
NM_014165.4(NDUFAF4):c.*482A>G
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.*639A>C
NM_014165.4(NDUFAF4):c.*690G>A rs181915821
NM_014165.4(NDUFAF4):c.*782T>C
NM_014165.4(NDUFAF4):c.*986A>C rs192839240
NM_014165.4(NDUFAF4):c.-11G>T
NM_014165.4(NDUFAF4):c.-20G>T
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.-49C>T rs372635399
NM_014165.4(NDUFAF4):c.-65C>G
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) rs139675421
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=)
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) rs372832376
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=)
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.-302dup rs779869307
NM_014271.4(IL1RAPL1):c.-303_-302del rs779869307
NM_014271.4(IL1RAPL1):c.-39G>A rs143054072
NM_014271.4(IL1RAPL1):c.-402G>A rs1057515846
NM_014271.4(IL1RAPL1):c.-405T>A rs762456633
NM_014271.4(IL1RAPL1):c.-82C>A rs1057515849
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.1368T>A (p.Thr456=) rs1057515851
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=)
NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=)
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) rs35305747
NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu) rs1057515852
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609
NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn) rs747458852
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509
NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=)
NM_014271.4(IL1RAPL1):c.550-4A>G
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) rs748193306
NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp)
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821
NM_014271.4(IL1RAPL1):c.83-8dup rs773751585
NM_014332.3(SMPX):c.*181A>G
NM_014332.3(SMPX):c.*232T>G
NM_014332.3(SMPX):c.*395T>G rs765339045
NM_014332.3(SMPX):c.*45A>T rs1057515838
NM_014332.3(SMPX):c.-103C>T
NM_014332.3(SMPX):c.-54G>A rs1057515840
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508
NM_014332.3(SMPX):c.264G>A (p.Gln88=) rs1057515839
NM_015957.4(APIP):c.-14C>T rs886048245
NM_015957.4(APIP):c.-18G>A rs761199870
NM_015957.4(APIP):c.-1C>T rs774565620
NM_015957.4(APIP):c.-30T>C
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+57C>G
NM_015957.4(APIP):c.57+77C>T rs16926448
NM_015957.4(APIP):c.57+78A>G rs2016814
NM_015957.4(APIP):c.57+91G>T
NM_016013.4(NDUFAF1):c.-137C>T rs369431865
NM_016013.4(NDUFAF1):c.-140C>T rs886051144
NM_016013.4(NDUFAF1):c.-165C>T
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-192T>C
NM_016013.4(NDUFAF1):c.-205G>C rs190265352
NM_016013.4(NDUFAF1):c.-242G>C
NM_016013.4(NDUFAF1):c.-293C>T rs760649120
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.-34C>G
NM_016013.4(NDUFAF1):c.-352C>T rs532681188
NM_016013.4(NDUFAF1):c.-379C>T rs146883891
NM_016013.4(NDUFAF1):c.-386A>T rs111326645
NM_016013.4(NDUFAF1):c.-6T>G rs180730324
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu)
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) rs146540015
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys)
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=)
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln)
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser)
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val)
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
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_016589.4(TIMMDC1):c.597-1340A>G rs781525096
NM_017547.3(FOXRED1):c.-163G>C rs552937899
NM_017547.4(FOXRED1):c.*113G>A rs667627
NM_017547.4(FOXRED1):c.*129C>G rs594318
NM_017547.4(FOXRED1):c.*159C>T rs570233921
NM_017547.4(FOXRED1):c.*190T>C rs77902129
NM_017547.4(FOXRED1):c.*211T>C
NM_017547.4(FOXRED1):c.*374T>G
NM_017547.4(FOXRED1):c.*392G>A rs886047983
NM_017547.4(FOXRED1):c.*432T>G rs185024577
NM_017547.4(FOXRED1):c.*71A>G
NM_017547.4(FOXRED1):c.*85T>C rs372575072
NM_017547.4(FOXRED1):c.*93G>A
NM_017547.4(FOXRED1):c.-2T>C rs1786702
NM_017547.4(FOXRED1):c.-31A>G rs368307265
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val)
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) rs751634994
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=)
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser)
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly) rs139086727
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) rs749675822
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) rs77785510
NM_017547.4(FOXRED1):c.307-14T>C rs541684918
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=)
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro) rs375454069
NM_017547.4(FOXRED1):c.417+10A>G rs180800246
NM_017547.4(FOXRED1):c.417+6T>C
NM_017547.4(FOXRED1):c.418-1G>T rs771941278
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp)
NM_017547.4(FOXRED1):c.537-11G>A rs199599636
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg)
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly) rs886047981
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr) rs148955548
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) rs886047982
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) rs777315728
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_017875.4(SLC25A38):c.*304C>T rs113251543
NM_017875.4(SLC25A38):c.*472G>T rs141567816
NM_017875.4(SLC25A38):c.*490G>A rs150889211
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_017875.4(SLC25A38):c.*809C>T rs71325527
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-225G>A rs370977005
NM_017875.4(SLC25A38):c.-227G>A rs886058468
NM_017875.4(SLC25A38):c.-237G>A rs527536267
NM_017875.4(SLC25A38):c.-292G>A rs142441701
NM_017875.4(SLC25A38):c.-303A>C rs114422738
NM_017875.4(SLC25A38):c.-325G>C rs886058467
NM_017875.4(SLC25A38):c.-69C>T rs886058470
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_018444.4(PDP1):c.*1091A>C rs568829851
NM_018444.4(PDP1):c.*1113T>C rs537546709
NM_018444.4(PDP1):c.*1127T>C rs766520277
NM_018444.4(PDP1):c.*1324G>A rs774244422
NM_018444.4(PDP1):c.*1370A>G rs886063182
NM_018444.4(PDP1):c.*1409G>A rs757140568
NM_018444.4(PDP1):c.*1487A>T rs189435075
NM_018444.4(PDP1):c.*1564C>A rs111728711
NM_018444.4(PDP1):c.*1609A>G rs186669527
NM_018444.4(PDP1):c.*1612G>A rs886063183
NM_018444.4(PDP1):c.*1649_*1650insG rs886063184
NM_018444.4(PDP1):c.*1651T>G rs886063185
NM_018444.4(PDP1):c.*1661del rs60316663
NM_018444.4(PDP1):c.*1664G>A rs558897089
NM_018444.4(PDP1):c.*1736G>C rs116788695
NM_018444.4(PDP1):c.*1799G>C rs535028389
NM_018444.4(PDP1):c.*1807T>A rs77734416
NM_018444.4(PDP1):c.*1844A>C rs886063186
NM_018444.4(PDP1):c.*1957G>T rs886063187
NM_018444.4(PDP1):c.*1961G>C rs886063188
NM_018444.4(PDP1):c.*2133G>A rs886063189
NM_018444.4(PDP1):c.*2299A>G rs886063190
NM_018444.4(PDP1):c.*368C>G rs551728387
NM_018444.4(PDP1):c.*36T>C rs4735258
NM_018444.4(PDP1):c.*491T>G rs41272417
NM_018444.4(PDP1):c.*49C>A rs192535454
NM_018444.4(PDP1):c.*51G>T rs149521176
NM_018444.4(PDP1):c.*566T>C rs78884124
NM_018444.4(PDP1):c.*592A>G rs537935933
NM_018444.4(PDP1):c.*631G>C rs911
NM_018444.4(PDP1):c.*724del rs886063179
NM_018444.4(PDP1):c.*743C>T rs886063180
NM_018444.4(PDP1):c.*886C>T rs547657737
NM_018444.4(PDP1):c.*898_*900CTT[1] rs756226872
NM_018444.4(PDP1):c.-142G>C rs764874879
NM_018444.4(PDP1):c.-67C>A rs372548037
NM_018444.4(PDP1):c.128G>C (p.Arg43Pro) rs201081450
NM_018444.4(PDP1):c.1431C>T (p.Asn477=) rs147477305
NM_018444.4(PDP1):c.1446C>T (p.Leu482=) rs137975172
NM_018444.4(PDP1):c.546C>T (p.Ser182=) rs202034256
NM_018444.4(PDP1):c.717C>G (p.Ala239=) rs150112501
NM_018444.4(PDP1):c.906C>T (p.Asp302=) rs138488258
NM_021074.4(NDUFV2):c.*77C>G rs12454908
NM_021074.4(NDUFV2):c.-83C>T rs540830035
NM_021074.4(NDUFV2):c.-94A>T rs552940397
NM_021074.4(NDUFV2):c.-98G>T rs886054123
NM_021074.5(NDUFV2):c.*51A>C
NM_021074.5(NDUFV2):c.*57C>T
NM_021074.5(NDUFV2):c.-13A>G rs369562850
NM_021074.5(NDUFV2):c.-30G>T rs139650842
NM_021074.5(NDUFV2):c.-39G>T rs748188888
NM_021074.5(NDUFV2):c.120+1G>C rs749991624
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.5(NDUFV2):c.301-10A>G rs756241126
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter) rs771236417
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu)
NM_021074.5(NDUFV2):c.469+12A>G
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401
NM_021074.5(NDUFV2):c.580-12T>A rs114558512
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=)
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=)
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_021998.5(ZNF711):c.-180dup rs1057516012
NM_021998.5(ZNF711):c.-190delinsGGCGGCGGCG rs1057516011
NM_021998.5(ZNF711):c.-214_-212GGC[10] rs758475553
NM_021998.5(ZNF711):c.-214_-212GGC[9] rs758475553
NM_022567.2(NYX):c.*103G>A rs750048192
NM_022567.2(NYX):c.*157C>G rs1057515884
NM_022567.2(NYX):c.*16del rs762960396
NM_022567.2(NYX):c.*414C>T rs58930096
NM_022567.2(NYX):c.*509G>C rs3021319
NM_022567.2(NYX):c.*72T>C rs1057515883
NM_022567.2(NYX):c.*734_*735dup rs201620180
NM_022567.2(NYX):c.*736G>C rs141612904
NM_022567.2(NYX):c.-279T>C rs3013122
NM_022567.2(NYX):c.-314A>G rs3013121
NM_022567.2(NYX):c.-328T>C rs777981530
NM_022567.2(NYX):c.-86T>G rs755997910
NM_022567.2(NYX):c.1035G>A (p.Glu345=) rs143486101
NM_022567.2(NYX):c.1198G>A (p.Gly400Ser) rs189924262
NM_022567.2(NYX):c.1217C>G (p.Ala406Gly) rs34169326
NM_022567.2(NYX):c.1227C>T (p.Thr409=) rs187149252
NM_022567.2(NYX):c.1253C>G (p.Ser418Cys) rs776029387
NM_022567.2(NYX):c.1394G>T (p.Cys465Phe) rs374968384
NM_022567.2(NYX):c.582C>A (p.Ile194=) rs746383908
NM_022567.2(NYX):c.843G>A (p.Glu281=) rs3810733
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.*16C>T rs573586959
NM_024407.5(NDUFS7):c.*3_*5CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3_*5CCG[5] rs3065757
NM_024407.5(NDUFS7):c.*8G>A rs756081375
NM_024407.5(NDUFS7):c.*94G>A
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338
NM_024407.5(NDUFS7):c.408+10G>T rs2074896
NM_024407.5(NDUFS7):c.455+13C>T
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val)
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_024921.4(POF1B):c.*1173C>A rs7062790
NM_024921.4(POF1B):c.*1431A>C rs16980189
NM_024921.4(POF1B):c.*1626G>A rs16980188
NM_024921.4(POF1B):c.*1808A>G rs56307558
NM_024921.4(POF1B):c.*1849G>A rs73513629
NM_025152.2(NUBPL):c.-39G>A rs886050446
NM_025152.3(NUBPL):c.*1015C>A rs551958784
NM_025152.3(NUBPL):c.*1047C>T
NM_025152.3(NUBPL):c.*1048G>A rs886050455
NM_025152.3(NUBPL):c.*1053G>A rs546991443
NM_025152.3(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.3(NUBPL):c.*1121_*1123del rs886050458
NM_025152.3(NUBPL):c.*1121dup rs886050457
NM_025152.3(NUBPL):c.*1122_*1124del rs886050460
NM_025152.3(NUBPL):c.*1122dup rs886050459
NM_025152.3(NUBPL):c.*1144_*1147del rs34847511
NM_025152.3(NUBPL):c.*1145_*1148del rs886050463
NM_025152.3(NUBPL):c.*1146_*1148del rs886050464
NM_025152.3(NUBPL):c.*1147dup rs34847511
NM_025152.3(NUBPL):c.*1148del rs886050465
NM_025152.3(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*1155dup rs886050467
NM_025152.3(NUBPL):c.*122G>C rs4981131
NM_025152.3(NUBPL):c.*1260T>C rs551289319
NM_025152.3(NUBPL):c.*135T>G rs377738028
NM_025152.3(NUBPL):c.*1370C>T
NM_025152.3(NUBPL):c.*1451C>T rs28533800
NM_025152.3(NUBPL):c.*1554A>G
NM_025152.3(NUBPL):c.*1594T>G
NM_025152.3(NUBPL):c.*1609G>A rs142179743
NM_025152.3(NUBPL):c.*1619C>T rs886050468
NM_025152.3(NUBPL):c.*1621C>T
NM_025152.3(NUBPL):c.*1655A>G
NM_025152.3(NUBPL):c.*1685A>G rs1129622
NM_025152.3(NUBPL):c.*1694G>A rs1129623
NM_025152.3(NUBPL):c.*1768G>A
NM_025152.3(NUBPL):c.*1773A>G rs886050469
NM_025152.3(NUBPL):c.*1776G>A rs886050470
NM_025152.3(NUBPL):c.*1840A>G rs886050471
NM_025152.3(NUBPL):c.*1874A>G rs10348
NM_025152.3(NUBPL):c.*1888G>A rs7148746
NM_025152.3(NUBPL):c.*188T>C rs569141248
NM_025152.3(NUBPL):c.*1940A>C
NM_025152.3(NUBPL):c.*1963C>A
NM_025152.3(NUBPL):c.*2036A>C rs886050472
NM_025152.3(NUBPL):c.*237G>T
NM_025152.3(NUBPL):c.*26C>G
NM_025152.3(NUBPL):c.*273C>T rs76188062
NM_025152.3(NUBPL):c.*301G>T
NM_025152.3(NUBPL):c.*312G>A rs10162516
NM_025152.3(NUBPL):c.*323G>T
NM_025152.3(NUBPL):c.*344T>C
NM_025152.3(NUBPL):c.*355T>C rs886050452
NM_025152.3(NUBPL):c.*357C>G rs576520205
NM_025152.3(NUBPL):c.*444C>T rs10162515
NM_025152.3(NUBPL):c.*527G>A rs560274677
NM_025152.3(NUBPL):c.*537dup rs200626091
NM_025152.3(NUBPL):c.*561G>A rs189555353
NM_025152.3(NUBPL):c.*638C>G rs886050454
NM_025152.3(NUBPL):c.*72T>C
NM_025152.3(NUBPL):c.*736C>G
NM_025152.3(NUBPL):c.*742C>G
NM_025152.3(NUBPL):c.*806A>G
NM_025152.3(NUBPL):c.*817T>A
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_025152.3(NUBPL):c.*850C>T
NM_025152.3(NUBPL):c.*864C>T
NM_025152.3(NUBPL):c.*905A>C rs750277296
NM_025152.3(NUBPL):c.*995T>C rs10136892
NM_025152.3(NUBPL):c.-13A>G rs754769393
NM_025152.3(NUBPL):c.-1C>T rs45468395
NM_025152.3(NUBPL):c.-25A>G rs749942385
NM_025152.3(NUBPL):c.-7C>T rs201073307
NM_025152.3(NUBPL):c.109-11A>T rs886050448
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.256+14T>C rs377077969
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe)
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val)
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) rs886050450
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp)
NM_025152.3(NUBPL):c.422+8T>C rs868061310
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) rs886050447
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg)
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) rs79498789
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu)
NM_025152.3(NUBPL):c.777A>G (p.Ala259=)
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110
NM_025152.3(NUBPL):c.90G>A (p.Ala30=)
NM_080632.2(UPF3B):c.*206A>G rs1042421205
NM_080632.2(UPF3B):c.*395G>A rs2239962
NM_080632.2(UPF3B):c.*40G>A rs199925511
NM_080632.2(UPF3B):c.*439A>G rs17261236
NM_080632.2(UPF3B):c.*49C>T rs182885401
NM_080632.2(UPF3B):c.*618G>A rs142984131
NM_080632.2(UPF3B):c.*650A>G rs2496203
NM_080632.2(UPF3B):c.*725G>A rs146388339
NM_080632.2(UPF3B):c.*741G>A rs1057515733
NM_080632.2(UPF3B):c.*772G>A rs2428206
NM_080632.2(UPF3B):c.-100G>A rs769093842
NM_080632.2(UPF3B):c.-13G>C rs185511642
NM_080632.2(UPF3B):c.-67T>G rs761175084
NM_080632.2(UPF3B):c.1007+4A>T rs765853112
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) rs143538947
NM_153252.4(BRWD3):c.-251_-250delTC rs1057516007
NM_153252.5(BRWD3):c.*1036A>C rs41300175
NM_153252.5(BRWD3):c.*121C>G rs760166411
NM_153252.5(BRWD3):c.*1372T>A rs41300257
NM_153252.5(BRWD3):c.*1394G>C
NM_153252.5(BRWD3):c.*1473T>A rs756025042
NM_153252.5(BRWD3):c.*1592G>C rs180892443
NM_153252.5(BRWD3):c.*1703T>C rs1057516003
NM_153252.5(BRWD3):c.*1820G>C
NM_153252.5(BRWD3):c.*1895C>G rs1057516002
NM_153252.5(BRWD3):c.*1992G>A rs193085939
NM_153252.5(BRWD3):c.*2154A>G rs184067970
NM_153252.5(BRWD3):c.*2323G>A rs191690327
NM_153252.5(BRWD3):c.*2329A>T rs1057516001
NM_153252.5(BRWD3):c.*2413T>A
NM_153252.5(BRWD3):c.*244_*245CA[2] rs1057516004
NM_153252.5(BRWD3):c.*248C>T
NM_153252.5(BRWD3):c.*2594T>C rs1057516000
NM_153252.5(BRWD3):c.*2626C>T rs1028184110
NM_153252.5(BRWD3):c.*265_*266AC[4] rs35220611
NM_153252.5(BRWD3):c.*2710G>A rs898420202
NM_153252.5(BRWD3):c.*2723A>G
NM_153252.5(BRWD3):c.*2744A>G rs148045997
NM_153252.5(BRWD3):c.*2831C>T rs3810676
NM_153252.5(BRWD3):c.*2875A>G
NM_153252.5(BRWD3):c.*2877G>A rs187241080
NM_153252.5(BRWD3):c.*3083G>T rs987452216
NM_153252.5(BRWD3):c.*3252T>C
NM_153252.5(BRWD3):c.*3293C>A
NM_153252.5(BRWD3):c.*3377T>G
NM_153252.5(BRWD3):c.*3447G>A
NM_153252.5(BRWD3):c.*3483G>A rs116559809
NM_153252.5(BRWD3):c.*3594T>C
NM_153252.5(BRWD3):c.*3738A>G
NM_153252.5(BRWD3):c.*3787T>C rs146779779
NM_153252.5(BRWD3):c.*3850G>C rs45627037
NM_153252.5(BRWD3):c.*4139T>C
NM_153252.5(BRWD3):c.*4194C>A rs189047883
NM_153252.5(BRWD3):c.*4223C>T rs184070793
NM_153252.5(BRWD3):c.*4272C>T rs190439155
NM_153252.5(BRWD3):c.*4581C>T rs1057515996
NM_153252.5(BRWD3):c.*4661A>G
NM_153252.5(BRWD3):c.*4809T>G rs41311569
NM_153252.5(BRWD3):c.*5133G>T rs41307391
NM_153252.5(BRWD3):c.*5142A>G
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.*5514T>C rs1057515995
NM_153252.5(BRWD3):c.*5741G>T
NM_153252.5(BRWD3):c.*5773A>C
NM_153252.5(BRWD3):c.*5790G>A rs759779733
NM_153252.5(BRWD3):c.*5993G>C rs7065450
NM_153252.5(BRWD3):c.*6025dup rs201004001
NM_153252.5(BRWD3):c.*6157C>T rs142555243
NM_153252.5(BRWD3):c.*6197T>C rs1057515994
NM_153252.5(BRWD3):c.*6248A>G rs1057515993
NM_153252.5(BRWD3):c.*6331C>G
NM_153252.5(BRWD3):c.*6439G>A rs375704347
NM_153252.5(BRWD3):c.*6451T>C
NM_153252.5(BRWD3):c.*6640T>A rs192201825
NM_153252.5(BRWD3):c.*6692A>G
NM_153252.5(BRWD3):c.*6862T>C rs2063579
NM_153252.5(BRWD3):c.*6871G>T rs567910666
NM_153252.5(BRWD3):c.*6902G>A rs188498975
NM_153252.5(BRWD3):c.*6957C>G rs1057515992
NM_153252.5(BRWD3):c.*802A>G
NM_153252.5(BRWD3):c.*847G>A
NM_153252.5(BRWD3):c.-229C>T
NM_153252.5(BRWD3):c.-229_-228dup rs1057516006
NM_153252.5(BRWD3):c.-239_-238TC[6] rs545281823
NM_153252.5(BRWD3):c.-267C>T
NM_153252.5(BRWD3):c.-283_-282CT[8] rs199953219
NM_153252.5(BRWD3):c.1384T>C (p.Ser462Pro)
NM_153252.5(BRWD3):c.2026G>A (p.Ala676Thr)
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.2326-14C>A
NM_153252.5(BRWD3):c.2943+13A>G
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=)
NM_153252.5(BRWD3):c.3326-14del rs765175433
NM_153252.5(BRWD3):c.3326-26dup rs765175433
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.3965C>T (p.Ser1322Leu)
NM_153252.5(BRWD3):c.4263C>T (p.Ala1421=) rs749607717
NM_153252.5(BRWD3):c.4328G>C (p.Arg1443Thr)
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.637C>T (p.Arg213Cys)
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587
NM_153252.5(BRWD3):c.813+10G>C rs55824836
NM_153252.5(BRWD3):c.814-8T>A rs1057516005
NM_153252.5(BRWD3):c.957C>A (p.Val319=)
NM_153252.5(BRWD3):c.96A>G (p.Leu32=)
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.*139_*142del rs1057515834
NM_171998.4(RAB39B):c.*1428T>G rs1057515831
NM_171998.4(RAB39B):c.*1452T>C
NM_171998.4(RAB39B):c.*1580C>G rs115301020
NM_171998.4(RAB39B):c.*1621del rs1057515830
NM_171998.4(RAB39B):c.*1656= rs3105275
NM_171998.4(RAB39B):c.*1728A>G rs1057515829
NM_171998.4(RAB39B):c.*1813C>A rs17052030
NM_171998.4(RAB39B):c.*1935G>A rs782447828
NM_171998.4(RAB39B):c.*1945A>T rs145867198
NM_171998.4(RAB39B):c.*1949_*1952CAAA[1] rs1057515828
NM_171998.4(RAB39B):c.*2100C>T rs1057515827
NM_171998.4(RAB39B):c.*2366G>A
NM_171998.4(RAB39B):c.*2551T>C
NM_171998.4(RAB39B):c.*282G>T rs147213132
NM_171998.4(RAB39B):c.*339T>C rs781919581
NM_171998.4(RAB39B):c.*428C>T
NM_171998.4(RAB39B):c.*485T>G rs1057515833
NM_171998.4(RAB39B):c.*588A>G
NM_171998.4(RAB39B):c.*659_*660insATA rs1057515832
NM_171998.4(RAB39B):c.*65A>G rs900423679
NM_171998.4(RAB39B):c.-61G>C rs898651947
NM_171998.4(RAB39B):c.-62C>A
NM_171998.4(RAB39B):c.-84C>G
NM_171998.4(RAB39B):c.273T>C (p.Ile91=) rs1057515836
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-63G>T rs886060724
NM_174889.4(NDUFAF2):c.-66G>C rs376045901
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.-23_-22GC[3] rs886060725
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068
NM_175614.4(NDUFA11):c.-143C>G rs550697802
NM_175614.4(NDUFA11):c.-201_-200delCT rs759857076
NM_175614.4(NDUFA11):c.-210T>C rs886054650
NM_175614.4(NDUFA11):c.-217A>G rs1056987
NM_175614.4(NDUFA11):c.-234T>C rs115530541
NM_175614.4(NDUFA11):c.-300G>A rs563822139
NM_175614.4(NDUFA11):c.-83G>C rs562075121
NM_175614.4(NDUFA11):c.-88C>A rs8108064
NM_175614.5(NDUFA11):c.*55G>C rs771648754
NM_175614.5(NDUFA11):c.*59C>G rs191571307
NM_175614.5(NDUFA11):c.*63G>A
NM_175614.5(NDUFA11):c.-31G>A rs886054648
NM_175614.5(NDUFA11):c.-51T>G rs886054649
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser)
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=)
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=)
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) rs146562956
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser)
NM_199069.2(NDUFAF3):c.*169G>C rs886058669
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.*243G>A
NM_199069.2(NDUFAF3):c.*98A>G
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr)
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) rs200576852
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu)
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe)
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=)
NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile)
NM_199069.2(NDUFAF3):c.271-10C>G rs200789117
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) rs202104160
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser)
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668
NM_199069.2(NDUFAF3):c.78-15C>G rs587781096
NM_199074.1(NDUFAF3):c.-94-319G>A rs886058666
NM_199074.1(NDUFAF3):c.-94-327G>C rs75749590
NM_199074.1(NDUFAF3):c.-94-328G>C rs74601553
NM_199074.1(NDUFAF3):c.-94-344A>T
NM_199074.1(NDUFAF3):c.-94-442C>T rs573066357
NM_199074.1(NDUFAF3):c.-94-450C>T rs886058665
NM_199074.1(NDUFAF3):c.-94-564C>G rs760652685
NM_199074.1(NDUFAF3):c.-94-570C>T rs886058664
NM_199074.1(NDUFAF3):c.-94-571A>G rs886058663
NM_199074.1(NDUFAF3):c.-94-690T>C rs886058662
NM_199074.1(NDUFAF3):c.-94-704G>A
NM_199074.1(NDUFAF3):c.-94-704G>C

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