ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 882
Download table as spreadsheet
HGVS dbSNP
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.3(ABCD1):c.*10C>T rs1057515814
NM_000033.3(ABCD1):c.*123C>T rs186542134
NM_000033.3(ABCD1):c.*196C>G rs367591611
NM_000033.3(ABCD1):c.*259A>G rs374092960
NM_000033.3(ABCD1):c.*412T>C rs1057515815
NM_000033.3(ABCD1):c.*473C>T rs782343473
NM_000033.3(ABCD1):c.*481G>T rs199942817
NM_000033.3(ABCD1):c.*530G>A rs67211405
NM_000033.3(ABCD1):c.*555_*561delGAGAGGG rs1057515816
NM_000033.3(ABCD1):c.*564G>A rs782819878
NM_000033.3(ABCD1):c.*608G>A rs73640819
NM_000033.3(ABCD1):c.*668C>T rs187420166
NM_000033.3(ABCD1):c.*795C>T rs1057515817
NM_000033.3(ABCD1):c.*870G>T rs72616452
NM_000033.3(ABCD1):c.*877C>T rs11803
NM_000033.3(ABCD1):c.*894G>A rs1055847
NM_000033.3(ABCD1):c.*8G>C rs2229539
NM_000033.3(ABCD1):c.*903G>A rs78155328
NM_000033.3(ABCD1):c.*985C>G rs782309410
NM_000033.3(ABCD1):c.-10C>T rs782754717
NM_000033.3(ABCD1):c.-202C>G rs781978041
NM_000033.3(ABCD1):c.-342G>A rs912340339
NM_000033.3(ABCD1):c.-59C>T rs4148030
NM_000033.3(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.3(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.3(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.3(ABCD1):c.1489-6delC rs398123101
NM_000033.3(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.3(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.3(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
NM_000108.3(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.4(DLD):c.*1088A>G rs886061912
NM_000108.4(DLD):c.*1092C>T rs546777301
NM_000108.4(DLD):c.*1307C>T rs568807016
NM_000108.4(DLD):c.*1451T>C rs2108223
NM_000108.4(DLD):c.*167T>C rs886061909
NM_000108.4(DLD):c.*1688G>A rs8440
NM_000108.4(DLD):c.*1724C>G rs886061913
NM_000108.4(DLD):c.*1736T>C rs190655078
NM_000108.4(DLD):c.*1791_*1794delTTTA rs760145994
NM_000108.4(DLD):c.*1857A>C rs774099916
NM_000108.4(DLD):c.*1877A>G rs182010485
NM_000108.4(DLD):c.*18A>T rs8721
NM_000108.4(DLD):c.*207G>A rs4564
NM_000108.4(DLD):c.*225C>T rs553824101
NM_000108.4(DLD):c.*28G>T rs17154615
NM_000108.4(DLD):c.*355A>G rs886061910
NM_000108.4(DLD):c.*470G>A rs111619940
NM_000108.4(DLD):c.*487C>T rs4518
NM_000108.4(DLD):c.*498T>G rs886061911
NM_000108.4(DLD):c.*648G>A rs57801571
NM_000108.4(DLD):c.*855C>T rs116055514
NM_000108.4(DLD):c.*947G>T rs7777259
NM_000108.4(DLD):c.*978T>C rs2158835
NM_000108.4(DLD):c.-8G>T rs372155330
NM_000108.4(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.4(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.4(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.4(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.4(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.4(DLD):c.1465-7C>G rs886061908
NM_000108.4(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.267+15delT rs886061906
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.4(DLD):c.684+7G>A rs75123588
NM_000108.4(DLD):c.685-14T>A rs80111449
NM_000108.4(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.4(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000156.5(GAMT):c.*146A>C rs659455
NM_000156.5(GAMT):c.*151T>C rs659460
NM_000156.5(GAMT):c.*276C>T rs266810
NM_000156.5(GAMT):c.*311C>G rs266811
NM_000156.5(GAMT):c.571-6G>A rs2074899
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000531.5(OTC):c.*105C>T rs1036076773
NM_000531.5(OTC):c.*106G>A rs766318571
NM_000531.5(OTC):c.*276A>G rs1016109235
NM_000531.5(OTC):c.-48G>T rs182454762
NM_000531.5(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.5(OTC):c.216+9C>T rs774764719
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.299-8T>A rs73196229
NM_000531.5(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.5(OTC):c.718-14T>C rs55722856
NM_000531.5(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.5(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000925.3(PDHB):c.*199T>G rs886058777
NM_000925.3(PDHB):c.*243A>C rs1126722
NM_000925.3(PDHB):c.*296C>G rs7231
NM_000925.3(PDHB):c.*353T>C rs1126735
NM_000925.3(PDHB):c.*356A>G rs1126737
NM_000925.3(PDHB):c.*360A>G rs886058776
NM_000925.3(PDHB):c.*366_*367insAA rs886058775
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.3(PDHB):c.*92C>A rs4228
NM_000925.3(PDHB):c.*99C>T rs7230
NM_000925.3(PDHB):c.-26G>A rs201243189
NM_000925.3(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.3(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.3(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.3(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000925.3(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.3(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.3(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.3(PDHB):c.701-3C>T rs377063331
NM_000925.3(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.3(PDHB):c.793-19_793-14delGATTAT rs759146810
NM_000925.3(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_001018113.2(FANCB):c.*14T>C rs2375726
NM_001018113.2(FANCB):c.*33T>C rs187611308
NM_001018113.2(FANCB):c.*66T>G rs143434225
NM_001018113.2(FANCB):c.-173G>C rs2188383
NM_001018113.2(FANCB):c.-229T>G rs149617434
NM_001018113.2(FANCB):c.-230A>T rs1020271259
NM_001018113.2(FANCB):c.-232G>A rs756766337
NM_001018113.2(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.2(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.2(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.2(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.2(FANCB):c.1327-10T>C rs2905223
NM_001018113.2(FANCB):c.1327-3delT rs202067682
NM_001018113.2(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.2(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.2(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.2(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.2(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.2(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.2(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.2(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.2(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.2(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.2(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.2(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.2(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.2(FANCB):c.952-13C>T rs1057515807
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) rs1801318
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) rs1127566
NM_001931.4(DLAT):c.*1109C>T rs75608010
NM_001931.4(DLAT):c.*1232_*1235dupAGGA rs368743837
NM_001931.4(DLAT):c.*1248G>C rs9822
NM_001931.4(DLAT):c.*1318A>G rs757760280
NM_001931.4(DLAT):c.*1375T>C rs144371275
NM_001931.4(DLAT):c.*1595G>A rs184244244
NM_001931.4(DLAT):c.*168G>A rs77304693
NM_001931.4(DLAT):c.*1704A>G rs886047698
NM_001931.4(DLAT):c.*220T>C rs886047695
NM_001931.4(DLAT):c.*243T>C rs189254124
NM_001931.4(DLAT):c.*246A>G rs886047696
NM_001931.4(DLAT):c.*419A>G rs9371
NM_001931.4(DLAT):c.*622C>A rs139429714
NM_001931.4(DLAT):c.*873T>C rs73568056
NM_001931.4(DLAT):c.*920A>G rs116895022
NM_001931.4(DLAT):c.*96C>A rs534753
NM_001931.4(DLAT):c.*981G>A rs886047697
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_001931.4(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.4(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.4(DLAT):c.1290+5G>A rs886047694
NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.4(DLAT):c.1399-13C>T rs374698306
NM_001931.4(DLAT):c.1692G>A (p.Thr564=) rs185907405
NM_001931.4(DLAT):c.1735A>G (p.Ile579Val) rs371341957
NM_001931.4(DLAT):c.210G>C (p.Arg70=) rs782739576
NM_001931.4(DLAT):c.318C>A (p.Gly106=) rs201070254
NM_001931.4(DLAT):c.396dup (p.Ala133Serfs)
NM_001931.4(DLAT):c.402T>C (p.Thr134=) rs886047693
NM_001931.4(DLAT):c.412G>T (p.Glu138Ter)
NM_001931.4(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.4(DLAT):c.506+11C>T rs77846695
NM_001931.4(DLAT):c.506+12G>A rs372355218
NM_001931.4(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.4(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.4(DLAT):c.606G>A (p.Ser202=) rs148153443
NM_001931.4(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.4(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.4(DLAT):c.828G>T (p.Leu276=) rs199835215
NM_001931.4(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.4(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001931.4(DLAT):c.974C>T (p.Pro325Leu) rs782527135
NM_001931.4(DLAT):c.991C>G (p.Pro331Ala) rs78320677
NM_002291.2(LAMB1):c.5225-7C>T rs3213673
NM_002294.2(LAMP2):c.*1071G>T rs2285548
NM_002294.2(LAMP2):c.*1096T>C rs5957382
NM_002294.2(LAMP2):c.*1191A>T rs1004327482
NM_002294.2(LAMP2):c.*1314T>C rs5957381
NM_002294.2(LAMP2):c.*1356C>G rs188897063
NM_002294.2(LAMP2):c.*1589A>G rs73612906
NM_002294.2(LAMP2):c.*1617C>T rs141881232
NM_002294.2(LAMP2):c.*1632A>G rs755434692
NM_002294.2(LAMP2):c.*1672C>T rs1024440041
NM_002294.2(LAMP2):c.*1701dupT rs373005118
NM_002294.2(LAMP2):c.*2005C>G rs200014321
NM_002294.2(LAMP2):c.*205C>T rs41300191
NM_002294.2(LAMP2):c.*2148A>G rs756504749
NM_002294.2(LAMP2):c.*2158_*2161dupATAT rs753399289
NM_002294.2(LAMP2):c.*2160_*2161dupAT rs753399289
NM_002294.2(LAMP2):c.*2162G>A rs767123866
NM_002294.2(LAMP2):c.*2183T>C rs765214315
NM_002294.2(LAMP2):c.*2195T>C rs13441024
NM_002294.2(LAMP2):c.*2261A>G rs12395643
NM_002294.2(LAMP2):c.*2395A>G rs10127185
NM_002294.2(LAMP2):c.*2460A>G rs10127182
NM_002294.2(LAMP2):c.*2524T>C rs150119198
NM_002294.2(LAMP2):c.*2538A>C rs1057515739
NM_002294.2(LAMP2):c.*2736T>A rs1057515738
NM_002294.2(LAMP2):c.*2746A>G rs3827478
NM_002294.2(LAMP2):c.*297A>C rs8160
NM_002294.2(LAMP2):c.*3031dupT rs113549733
NM_002294.2(LAMP2):c.*3248G>A rs5957380
NM_002294.2(LAMP2):c.*3249T>C rs41300908
NM_002294.2(LAMP2):c.*3351_*3354delGTTA rs764018077
NM_002294.2(LAMP2):c.*33A>G rs745798436
NM_002294.2(LAMP2):c.*3468_*3470delGTT rs199705754
NM_002294.2(LAMP2):c.*3677C>A rs1057515737
NM_002294.2(LAMP2):c.*3687T>C rs185627568
NM_002294.2(LAMP2):c.*3689T>C rs975386272
NM_002294.2(LAMP2):c.*4562A>G rs142200759
NM_002294.2(LAMP2):c.*4579A>G rs42885
NM_002294.2(LAMP2):c.*4671C>T rs1045953
NM_002294.2(LAMP2):c.*4763A>T rs761928368
NM_002294.2(LAMP2):c.*477T>C rs750939378
NM_002294.2(LAMP2):c.*4858A>G rs943561186
NM_002294.2(LAMP2):c.*486A>G rs5957383
NM_002294.2(LAMP2):c.*4961A>G rs765371462
NM_002294.2(LAMP2):c.*4963delG rs754879365
NM_002294.2(LAMP2):c.*5038A>G rs2748
NM_002294.2(LAMP2):c.*5048A>T rs113285013
NM_002294.2(LAMP2):c.*5172A>G rs778592348
NM_002294.2(LAMP2):c.*586A>G rs41312757
NM_002294.2(LAMP2):c.*653A>G rs1057515744
NM_002294.2(LAMP2):c.*692G>A rs1057515743
NM_002294.2(LAMP2):c.*721A>C rs887326511
NM_002294.2(LAMP2):c.*853G>A rs763861761
NM_002294.2(LAMP2):c.-103G>C rs1057515747
NM_002294.2(LAMP2):c.-154T>C rs999307628
NM_002294.2(LAMP2):c.-168dupC rs760941179
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
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_002495.2(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.3(NDUFS4):c.*46G>A rs567
NM_002495.3(NDUFS4):c.*79A>G rs886060699
NM_002495.3(NDUFS4):c.-22C>A rs144843461
NM_002495.3(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.3(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.3(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.3(NDUFS4):c.178-4G>C rs200384843
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002495.3(NDUFS4):c.351-11_351-8delGTTT rs375549253
NM_002495.3(NDUFS4):c.424+19dupT rs140172554
NM_002496.3(NDUFS8):c.*14C>T rs1051806
NM_002496.3(NDUFS8):c.*26T>G rs886048592
NM_002496.3(NDUFS8):c.*40A>G rs61329983
NM_002496.3(NDUFS8):c.*44C>T rs201815115
NM_002496.3(NDUFS8):c.-76C>T rs544094420
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.3(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259
NM_002496.3(NDUFS8):c.199+15T>G rs3115545
NM_002496.3(NDUFS8):c.199+5G>A rs373522607
NM_002496.3(NDUFS8):c.200-14C>T rs373128833
NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.3(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.3(NDUFS8):c.501+12C>G rs372004236
NM_002496.3(NDUFS8):c.502-10C>T rs369961682
NM_002496.3(NDUFS8):c.502-13C>T rs199793417
NM_002496.3(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.3(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_002496.3(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
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.*938dupA rs1057515728
NM_002764.3(PRPS1):c.-153delG rs768856537
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.3(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.3(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_003413.3(ZIC3):c.*1171_*1173delTTT rs1057515786
NM_003413.3(ZIC3):c.*1189A>G rs41300285
NM_003413.3(ZIC3):c.*1237A>T rs772508899
NM_003413.3(ZIC3):c.*1540G>A rs184855783
NM_003413.3(ZIC3):c.*1715A>G rs1057515787
NM_003413.3(ZIC3):c.*2024G>C rs113057036
NM_003413.3(ZIC3):c.*41A>G rs12387258
NM_003413.3(ZIC3):c.*489A>G rs183286584
NM_003413.3(ZIC3):c.*798_*802delTTTGT rs899320157
NM_003413.3(ZIC3):c.-479C>T rs1022475218
NM_003413.3(ZIC3):c.131C>G (p.Thr44Ser) rs78870836
NM_003413.3(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.3(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003413.3(ZIC3):c.906C>T (p.Cys302=) rs779221820
NM_003477.2(PDHX):c.*114A>G rs76663700
NM_003477.2(PDHX):c.*123A>G rs59918794
NM_003477.2(PDHX):c.*173G>A rs75863418
NM_003477.2(PDHX):c.*200T>C rs16926653
NM_003477.2(PDHX):c.*259G>T rs771515806
NM_003477.2(PDHX):c.*27A>C rs74524673
NM_003477.2(PDHX):c.*331G>C rs555691861
NM_003477.2(PDHX):c.*486G>T rs9326
NM_003477.2(PDHX):c.*644C>A rs7808
NM_003477.2(PDHX):c.*650G>A rs886048249
NM_003477.2(PDHX):c.*743G>A rs577162977
NM_003477.2(PDHX):c.*763G>A rs886048250
NM_003477.2(PDHX):c.*890T>C rs1049333
NM_003477.2(PDHX):c.-124G>C rs375130125
NM_003477.2(PDHX):c.-129C>T rs112032820
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-155G>A rs886048246
NM_003477.2(PDHX):c.-202A>G rs113073242
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.2(PDHX):c.-23C>A rs201033364
NM_003477.2(PDHX):c.-271G>T rs780153979
NM_003477.2(PDHX):c.-272G>A rs2956111
NM_003477.2(PDHX):c.-302A>G rs2956112
NM_003477.2(PDHX):c.-319G>A rs2956113
NM_003477.2(PDHX):c.-354C>T rs761199870
NM_003477.2(PDHX):c.-358G>A rs886048245
NM_003477.2(PDHX):c.-371G>A rs774565620
NM_003477.2(PDHX):c.-390G>A rs2956114
NM_003477.2(PDHX):c.-4C>G rs3818401
NM_003477.2(PDHX):c.-505G>A rs16926448
NM_003477.2(PDHX):c.-506T>C rs2016814
NM_003477.2(PDHX):c.-7C>T rs751680964
NM_003477.2(PDHX):c.-88C>A rs2956110
NM_003477.2(PDHX):c.108T>C (p.Ser36=) rs1049307
NM_003477.2(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.2(PDHX):c.1331G>A (p.Arg444Lys) rs34398018
NM_003477.2(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.2(PDHX):c.161-6T>C rs200438675
NM_003477.2(PDHX):c.241+3G>A rs78878052
NM_003477.2(PDHX):c.301A>G (p.Thr101Ala) rs11539202
NM_003477.2(PDHX):c.317A>G (p.Asp106Gly) rs146456454
NM_003477.2(PDHX):c.339C>T (p.Ile113=) rs34582941
NM_003477.2(PDHX):c.403G>T (p.Gly135Ter)
NM_003477.2(PDHX):c.438C>T (p.Asp146=) rs75182779
NM_003477.2(PDHX):c.474G>A (p.Glu158=) rs148723565
NM_003477.2(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.2(PDHX):c.507C>T (p.Ile169=) rs79170416
NM_003477.2(PDHX):c.511G>A (p.Val171Ile) rs142256229
NM_003477.2(PDHX):c.531C>T (p.Pro177=) rs76486106
NM_003477.2(PDHX):c.532G>A (p.Gly178Arg) rs765182974
NM_003477.2(PDHX):c.542+10T>C rs368960575
NM_003477.2(PDHX):c.577G>C (p.Glu193Gln) rs149337104
NM_003477.2(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.2(PDHX):c.63C>T (p.Pro21=) rs2956109
NM_003477.2(PDHX):c.641+4T>C rs2767035
NM_003477.2(PDHX):c.67C>T (p.Arg23Cys) rs1049306
NM_003477.2(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.2(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003477.2(PDHX):c.749C>T (p.Thr250Ile) rs146876119
NM_003477.2(PDHX):c.798T>C (p.Pro266=) rs61760973
NM_003477.2(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.2(PDHX):c.858T>C (p.Val286=) rs497582
NM_003477.2(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_004544.3(NDUFA10):c.*1011A>G rs575477219
NM_004544.3(NDUFA10):c.*105G>A rs886055825
NM_004544.3(NDUFA10):c.*1129G>A rs886055822
NM_004544.3(NDUFA10):c.*1189C>T rs66534347
NM_004544.3(NDUFA10):c.*1212T>C rs886055821
NM_004544.3(NDUFA10):c.*1214C>T rs546735567
NM_004544.3(NDUFA10):c.*1229C>G rs55998047
NM_004544.3(NDUFA10):c.*1262C>T rs759194775
NM_004544.3(NDUFA10):c.*1884G>C rs886055820
NM_004544.3(NDUFA10):c.*1894_*1914del21insGGG rs886055819
NM_004544.3(NDUFA10):c.*1915G>A rs144590599
NM_004544.3(NDUFA10):c.*1923_*1924insA rs138899326
NM_004544.3(NDUFA10):c.*1957G>A rs4854069
NM_004544.3(NDUFA10):c.*2042A>C rs886055818
NM_004544.3(NDUFA10):c.*2111G>A rs752139055
NM_004544.3(NDUFA10):c.*2149C>T rs570872300
NM_004544.3(NDUFA10):c.*2192T>A rs886055817
NM_004544.3(NDUFA10):c.*2297T>G rs773090030
NM_004544.3(NDUFA10):c.*2309G>A rs1132778
NM_004544.3(NDUFA10):c.*2397A>G rs886055816
NM_004544.3(NDUFA10):c.*2495C>T rs78395168
NM_004544.3(NDUFA10):c.*2602C>T rs58261980
NM_004544.3(NDUFA10):c.*2649G>A rs886055815
NM_004544.3(NDUFA10):c.*2685C>A rs114807372
NM_004544.3(NDUFA10):c.*2997G>A rs886055814
NM_004544.3(NDUFA10):c.*3067C>T rs564992184
NM_004544.3(NDUFA10):c.*3075T>G rs7588974
NM_004544.3(NDUFA10):c.*308C>T rs8369
NM_004544.3(NDUFA10):c.*3098A>T rs886055813
NM_004544.3(NDUFA10):c.*3113G>A rs886055812
NM_004544.3(NDUFA10):c.*3141C>T rs144864637
NM_004544.3(NDUFA10):c.*3204C>T rs34277046
NM_004544.3(NDUFA10):c.*3205G>A rs886055811
NM_004544.3(NDUFA10):c.*3349G>A rs77216981
NM_004544.3(NDUFA10):c.*3408T>C rs886055810
NM_004544.3(NDUFA10):c.*3450G>A rs7573892
NM_004544.3(NDUFA10):c.*3557G>A rs149933652
NM_004544.3(NDUFA10):c.*361A>G rs778261754
NM_004544.3(NDUFA10):c.*389C>T rs539829771
NM_004544.3(NDUFA10):c.*407C>T rs74614612
NM_004544.3(NDUFA10):c.*412A>G rs546052985
NM_004544.3(NDUFA10):c.*414G>A rs13424612
NM_004544.3(NDUFA10):c.*438C>T rs13396556
NM_004544.3(NDUFA10):c.*489A>G rs886055824
NM_004544.3(NDUFA10):c.*546G>A rs192485848
NM_004544.3(NDUFA10):c.*631C>T rs10933622
NM_004544.3(NDUFA10):c.*647C>T rs116254382
NM_004544.3(NDUFA10):c.*740C>T rs886055823
NM_004544.3(NDUFA10):c.*925C>G rs149563558
NM_004544.3(NDUFA10):c.-36C>T rs886055826
NM_004544.3(NDUFA10):c.-87A>C rs886055827
NM_004544.3(NDUFA10):c.-92C>T rs559797625
NM_004544.3(NDUFA10):c.-93G>T rs577432343
NM_004544.3(NDUFA10):c.1000-3C>G rs199648872
NM_004544.3(NDUFA10):c.1000-5delC rs138479490
NM_004544.3(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.3(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.3(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.3(NDUFA10):c.548-9A>G rs147876332
NM_004544.3(NDUFA10):c.549T>C (p.Cys183=) rs149783296
NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.3(NDUFA10):c.749+11C>T rs200760509
NM_004544.3(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004544.3(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820
NM_004550.4(NDUFS2):c.*102_*107dupGTGTGT rs10629771
NM_004550.4(NDUFS2):c.*106_*107delGT rs10629771
NM_004550.4(NDUFS2):c.*106_*107dupGT rs10629771
NM_004550.4(NDUFS2):c.*108A>T rs191955041
NM_004550.4(NDUFS2):c.*108_*109dupAT rs886045468
NM_004550.4(NDUFS2):c.*114A>G rs1136224
NM_004550.4(NDUFS2):c.*187G>A rs886045469
NM_004550.4(NDUFS2):c.*71_*76delGGCCTCinsTGCGTCTGTGTGTG 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.-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.1212+7A>G rs36233987
NM_004550.4(NDUFS2):c.1213-9delC 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.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.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.515-3C>A rs149789018
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+17dupCGGC rs776704187
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.986+12A>G rs11265565
NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_004550.4:c.495_496delTC
NM_004551.2(NDUFS3):c.-30C>T rs375483884
NM_004551.2(NDUFS3):c.-41T>C rs750965789
NM_004551.2(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.2(NDUFS3):c.381+5G>T rs886048392
NM_004551.2(NDUFS3):c.381+6T>C rs377579231
NM_004551.2(NDUFS3):c.475G>C (p.Val159Leu) rs148331180
NM_004551.2(NDUFS3):c.628-7C>T rs11039306
NM_004551.2(NDUFS3):c.657G>A (p.Val219=) rs377323760
NM_004551.2(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004551.2(NDUFS3):c.783T>C (p.Pro261=) rs117981655
NM_004551.2(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.2(NDUFS3):c.91T>C (p.Leu31=) rs770306617
NM_004553.4(NDUFS6):c.*15C>T rs200445799
NM_004553.4(NDUFS6):c.*27A>G rs370587409
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_004553.4(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274
NM_004553.4(NDUFS6):c.198C>T (p.Asn66=) rs140887831
NM_004553.4(NDUFS6):c.24C>T (p.Cys8=) rs886060511
NM_004553.4(NDUFS6):c.27G>C (p.Arg9=) rs886060512
NM_004553.4(NDUFS6):c.310-15T>C rs10058270
NM_004553.4(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_005006.6(NDUFS1):c.*151T>C rs533179154
NM_005006.6(NDUFS1):c.*158T>C rs3770989
NM_005006.6(NDUFS1):c.*256C>T rs10198830
NM_005006.6(NDUFS1):c.*27C>T rs369746514
NM_005006.6(NDUFS1):c.*336G>T rs1044120
NM_005006.6(NDUFS1):c.*399G>A rs77000728
NM_005006.6(NDUFS1):c.*438C>T rs561980718
NM_005006.6(NDUFS1):c.*457T>A rs4147728
NM_005006.6(NDUFS1):c.*504G>A rs548641207
NM_005006.6(NDUFS1):c.*561T>C rs146538309
NM_005006.6(NDUFS1):c.*641A>G rs886055501
NM_005006.6(NDUFS1):c.*733A>G rs6707707
NM_005006.6(NDUFS1):c.*756A>T rs755460274
NM_005006.6(NDUFS1):c.*846delT rs58253838
NM_005006.6(NDUFS1):c.*846dupT rs58253838
NM_005006.6(NDUFS1):c.*866A>C rs749790811
NM_005006.6(NDUFS1):c.*93dupA rs200446477
NM_005006.6(NDUFS1):c.*966A>G rs755776989
NM_005006.6(NDUFS1):c.-47C>G rs4147707
NM_005006.6(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915
NM_005006.6(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.6(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913
NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.6(NDUFS1):c.1393-7delT rs760292289
NM_005006.6(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316
NM_005006.6(NDUFS1):c.154-10_154-9delTT rs568965659
NM_005006.6(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964
NM_005006.6(NDUFS1):c.262-15delT rs34184317
NM_005006.6(NDUFS1):c.262-15dupT rs34184317
NM_005006.6(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502
NM_005006.6(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275
NM_005006.6(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.6(NDUFS1):c.421-7A>G rs192949406
NM_005006.6(NDUFS1):c.551+14C>A rs10206644
NM_005006.6(NDUFS1):c.975C>T (p.Arg325=) rs2230890
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.*14C>T rs886048590
NM_007103.3(NDUFV1):c.*79C>T rs76839099
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.3(NDUFV1):c.-34T>A rs886048586
NM_007103.3(NDUFV1):c.-45T>G rs373940385
NM_007103.3(NDUFV1):c.-66G>A rs73490568
NM_007103.3(NDUFV1):c.1017C>T (p.Phe339=) rs371426372
NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.3(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054
NM_007103.3(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500
NM_007103.3(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800
NM_007103.3(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639
NM_007103.3(NDUFV1):c.1309-9C>T rs374581520
NM_007103.3(NDUFV1):c.1353G>T (p.Gln451His) rs768582587
NM_007103.3(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256
NM_007103.3(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.3(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.3(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.3(NDUFV1):c.326+12G>A rs184136353
NM_007103.3(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.3(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.3(NDUFV1):c.414G>T (p.Leu138=) rs148461900
NM_007103.3(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121
NM_007103.3(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007103.3(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022
NM_007103.3(NDUFV1):c.606G>A (p.Gly202=) rs886048589
NM_007103.3(NDUFV1):c.72+15G>T rs187400726
NM_007103.3(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889
NM_007103.3(NDUFV1):c.819C>T (p.Thr273=) rs150859374
NM_007103.3(NDUFV1):c.843T>C (p.His281=) rs766555879
NM_007103.3(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_014165.3(NDUFAF4):c.*1008T>C rs886061827
NM_014165.3(NDUFAF4):c.*1053A>G rs74905648
NM_014165.3(NDUFAF4):c.*1062T>G rs76370016
NM_014165.3(NDUFAF4):c.*1121A>G rs886061826
NM_014165.3(NDUFAF4):c.*1154A>G rs886061825
NM_014165.3(NDUFAF4):c.*1203A>G rs190331411
NM_014165.3(NDUFAF4):c.*1362C>T rs545168471
NM_014165.3(NDUFAF4):c.*1363G>A rs184678986
NM_014165.3(NDUFAF4):c.*1375G>T rs138003168
NM_014165.3(NDUFAF4):c.*1443G>A rs7758762
NM_014165.3(NDUFAF4):c.*1447T>C rs116939090
NM_014165.3(NDUFAF4):c.*1481T>C rs772264922
NM_014165.3(NDUFAF4):c.*1487A>G rs748437516
NM_014165.3(NDUFAF4):c.*1642T>G rs150444958
NM_014165.3(NDUFAF4):c.*1671T>C rs182040819
NM_014165.3(NDUFAF4):c.*1727T>C rs886061824
NM_014165.3(NDUFAF4):c.*1748T>C rs886061823
NM_014165.3(NDUFAF4):c.*289C>G rs143895125
NM_014165.3(NDUFAF4):c.*294T>G rs555318888
NM_014165.3(NDUFAF4):c.*301T>A rs1854268
NM_014165.3(NDUFAF4):c.*323A>T rs9487453
NM_014165.3(NDUFAF4):c.*332A>T rs10499008
NM_014165.3(NDUFAF4):c.*350A>C rs41288598
NM_014165.3(NDUFAF4):c.*382T>A rs1971475
NM_014165.3(NDUFAF4):c.*387C>T rs41288596
NM_014165.3(NDUFAF4):c.*459A>G rs560563894
NM_014165.3(NDUFAF4):c.*612A>G rs886061828
NM_014165.3(NDUFAF4):c.*690G>A rs181915821
NM_014165.3(NDUFAF4):c.*986A>C rs192839240
NM_014165.3(NDUFAF4):c.-24C>G rs886061830
NM_014165.3(NDUFAF4):c.-32delG rs886061831
NM_014165.3(NDUFAF4):c.-33G>T rs886061832
NM_014165.3(NDUFAF4):c.-40C>T rs749427985
NM_014165.3(NDUFAF4):c.-49C>T rs372635399
NM_014165.3(NDUFAF4):c.184C>T (p.Leu62=) rs78567928
NM_014165.3(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.3(NDUFAF4):c.241-9dupT rs34213186
NM_014165.3(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.3(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014165.3(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378
NM_016013.3(NDUFAF1):c.-137C>T rs369431865
NM_016013.3(NDUFAF1):c.-140C>T rs886051144
NM_016013.3(NDUFAF1):c.-180C>T rs886051145
NM_016013.3(NDUFAF1):c.-205G>C rs190265352
NM_016013.3(NDUFAF1):c.-293C>T rs760649120
NM_016013.3(NDUFAF1):c.-312T>G rs886051146
NM_016013.3(NDUFAF1):c.-352C>T rs532681188
NM_016013.3(NDUFAF1):c.-379C>T rs146883891
NM_016013.3(NDUFAF1):c.-386A>T rs111326645
NM_016013.3(NDUFAF1):c.-6T>G rs180730324
NM_016013.3(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.3(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.3(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131
NM_016013.3(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.3(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.3(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.3(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.3(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.3(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
NM_016013.3(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.3(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.3(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_017547.3(FOXRED1):c.*113G>A rs667627
NM_017547.3(FOXRED1):c.*129C>G rs594318
NM_017547.3(FOXRED1):c.*159C>T rs570233921
NM_017547.3(FOXRED1):c.*190T>C rs77902129
NM_017547.3(FOXRED1):c.*392G>A rs886047983
NM_017547.3(FOXRED1):c.*432T>G rs185024577
NM_017547.3(FOXRED1):c.*85T>C rs372575072
NM_017547.3(FOXRED1):c.-163G>C rs552937899
NM_017547.3(FOXRED1):c.-2T>C rs1786702
NM_017547.3(FOXRED1):c.-31A>G rs368307265
NM_017547.3(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.3(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459
NM_017547.3(FOXRED1):c.1138C>G (p.His380Asp) rs751634994
NM_017547.3(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017547.3(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700
NM_017547.3(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044
NM_017547.3(FOXRED1):c.192G>A (p.Ser64=) rs749675822
NM_017547.3(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112
NM_017547.3(FOXRED1):c.305C>T (p.Thr102Met) rs77785510
NM_017547.3(FOXRED1):c.35G>C (p.Arg12Pro) rs375454069
NM_017547.3(FOXRED1):c.418-1G>T
NM_017547.3(FOXRED1):c.433G>A (p.Val145Ile) rs34542988
NM_017547.3(FOXRED1):c.435C>T (p.Val145=) rs147235743
NM_017547.3(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046
NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs) rs398124308
NM_017547.3(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152
NM_017547.3(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680
NM_017547.3(FOXRED1):c.833A>G (p.Glu278Gly) rs886047981
NM_017547.3(FOXRED1):c.857T>C (p.Ile286Thr) rs148955548
NM_017547.3(FOXRED1):c.887C>T (p.Ala296Val) rs886047982
NM_017547.3(FOXRED1):c.921G>A (p.Gly307=) rs777315728
NM_017547.3(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712
NM_017547.3(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_018444.3(PDP1):c.*1091A>C rs568829851
NM_018444.3(PDP1):c.*1113T>C rs537546709
NM_018444.3(PDP1):c.*1127T>C rs766520277
NM_018444.3(PDP1):c.*1324G>A rs774244422
NM_018444.3(PDP1):c.*1370A>G rs886063182
NM_018444.3(PDP1):c.*1409G>A rs757140568
NM_018444.3(PDP1):c.*1487A>T rs189435075
NM_018444.3(PDP1):c.*1564C>A rs111728711
NM_018444.3(PDP1):c.*1609A>G rs186669527
NM_018444.3(PDP1):c.*1612G>A rs886063183
NM_018444.3(PDP1):c.*1649_*1650insG rs886063184
NM_018444.3(PDP1):c.*1651T>G rs886063185
NM_018444.3(PDP1):c.*1661delT rs60316663
NM_018444.3(PDP1):c.*1664G>A rs558897089
NM_018444.3(PDP1):c.*1736G>C rs116788695
NM_018444.3(PDP1):c.*1799G>C rs535028389
NM_018444.3(PDP1):c.*1807T>A rs77734416
NM_018444.3(PDP1):c.*1844A>C rs886063186
NM_018444.3(PDP1):c.*1957G>T rs886063187
NM_018444.3(PDP1):c.*1961G>C rs886063188
NM_018444.3(PDP1):c.*2133G>A rs886063189
NM_018444.3(PDP1):c.*2299A>G rs886063190
NM_018444.3(PDP1):c.*368C>G rs551728387
NM_018444.3(PDP1):c.*36T>C rs4735258
NM_018444.3(PDP1):c.*491T>G rs41272417
NM_018444.3(PDP1):c.*49C>A rs192535454
NM_018444.3(PDP1):c.*51G>T rs149521176
NM_018444.3(PDP1):c.*566T>C rs78884124
NM_018444.3(PDP1):c.*592A>G rs537935933
NM_018444.3(PDP1):c.*631G>C rs911
NM_018444.3(PDP1):c.*724delT rs886063179
NM_018444.3(PDP1):c.*743C>T rs886063180
NM_018444.3(PDP1):c.*886C>T rs547657737
NM_018444.3(PDP1):c.*901_*903delCTT rs756226872
NM_018444.3(PDP1):c.-142G>C rs764874879
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_018444.3(PDP1):c.-67C>A rs372548037
NM_018444.3(PDP1):c.128G>C (p.Arg43Pro) rs201081450
NM_018444.3(PDP1):c.1431C>T (p.Asn477=) rs147477305
NM_018444.3(PDP1):c.1446C>T (p.Leu482=) rs137975172
NM_018444.3(PDP1):c.546C>T (p.Ser182=) rs202034256
NM_018444.3(PDP1):c.717C>G (p.Ala239=) rs150112501
NM_018444.3(PDP1):c.906C>T (p.Asp302=) rs138488258
NM_021074.4(NDUFV2):c.*77C>G rs12454908
NM_021074.4(NDUFV2):c.-30G>T rs139650842
NM_021074.4(NDUFV2):c.-39G>T rs748188888
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_021074.4(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.4(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.4(NDUFV2):c.301-10A>G rs756241126
NM_021074.4(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.4(NDUFV2):c.510T>C (p.Thr170=) rs201074358
NM_021074.4(NDUFV2):c.546C>T (p.Asn182=) rs143576401
NM_021074.4(NDUFV2):c.580-12T>A rs114558512
NM_021074.4(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_021074.5(NDUFV2):c.120+1G>C
NM_021074.5(NDUFV2):c.435dup (p.Asp146Terfs)
NM_024407.4(NDUFS7):c.*13C>A rs11551663
NM_024407.4(NDUFS7):c.*15_*20delCCGCCG rs3065757
NM_024407.4(NDUFS7):c.*18_*20delCCG rs3065757
NM_024407.4(NDUFS7):c.*8G>A rs756081375
NM_024407.4(NDUFS7):c.153C>T (p.Ala51=) rs140236960
NM_024407.4(NDUFS7):c.21T>C (p.Pro7=) rs201222388
NM_024407.4(NDUFS7):c.270C>T (p.Ala90=) rs375120743
NM_024407.4(NDUFS7):c.322G>A (p.Val108Met) rs368174338
NM_024407.4(NDUFS7):c.408+10G>T rs2074896
NM_024407.4(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024407.4(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806
NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_025152.2(NUBPL):c.*1015C>A rs551958784
NM_025152.2(NUBPL):c.*1048G>A rs886050455
NM_025152.2(NUBPL):c.*1053G>A rs546991443
NM_025152.2(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.2(NUBPL):c.*1121_*1123delTCA rs886050458
NM_025152.2(NUBPL):c.*1121dupT rs886050457
NM_025152.2(NUBPL):c.*1122_*1124delCAA rs886050460
NM_025152.2(NUBPL):c.*1122dupC rs886050459
NM_025152.2(NUBPL):c.*1144_*1147delAAAA rs34847511
NM_025152.2(NUBPL):c.*1145_*1148delAAAG rs886050463
NM_025152.2(NUBPL):c.*1146_*1148delAAG rs886050464
NM_025152.2(NUBPL):c.*1147dupA rs34847511
NM_025152.2(NUBPL):c.*1148delG rs886050465
NM_025152.2(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.2(NUBPL):c.*1151G>A rs550119169
NM_025152.2(NUBPL):c.*1155dupG rs886050467
NM_025152.2(NUBPL):c.*122G>C rs4981131
NM_025152.2(NUBPL):c.*1260T>C rs551289319
NM_025152.2(NUBPL):c.*135T>G rs377738028
NM_025152.2(NUBPL):c.*1451C>T rs28533800
NM_025152.2(NUBPL):c.*1609G>A rs142179743
NM_025152.2(NUBPL):c.*1619C>T rs886050468
NM_025152.2(NUBPL):c.*1685A>G rs1129622
NM_025152.2(NUBPL):c.*1694G>A rs1129623
NM_025152.2(NUBPL):c.*1773A>G rs886050469
NM_025152.2(NUBPL):c.*1776G>A rs886050470
NM_025152.2(NUBPL):c.*1840A>G rs886050471
NM_025152.2(NUBPL):c.*1874A>G rs10348
NM_025152.2(NUBPL):c.*1888G>A rs7148746
NM_025152.2(NUBPL):c.*188T>C rs569141248
NM_025152.2(NUBPL):c.*2036A>C rs886050472
NM_025152.2(NUBPL):c.*273C>T rs76188062
NM_025152.2(NUBPL):c.*312G>A rs10162516
NM_025152.2(NUBPL):c.*355T>C rs886050452
NM_025152.2(NUBPL):c.*357C>G rs576520205
NM_025152.2(NUBPL):c.*444C>T rs10162515
NM_025152.2(NUBPL):c.*527G>A rs560274677
NM_025152.2(NUBPL):c.*537dupA rs200626091
NM_025152.2(NUBPL):c.*561G>A rs189555353
NM_025152.2(NUBPL):c.*638C>G rs886050454
NM_025152.2(NUBPL):c.*836C>G rs10147479
NM_025152.2(NUBPL):c.*905A>C rs750277296
NM_025152.2(NUBPL):c.*995T>C rs10136892
NM_025152.2(NUBPL):c.-13A>G rs754769393
NM_025152.2(NUBPL):c.-1C>T rs45468395
NM_025152.2(NUBPL):c.-25A>G rs749942385
NM_025152.2(NUBPL):c.-39G>A rs886050446
NM_025152.2(NUBPL):c.-7C>T rs201073307
NM_025152.2(NUBPL):c.109-11A>T rs886050448
NM_025152.2(NUBPL):c.162C>T (p.Ser54=) rs34570972
NM_025152.2(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.2(NUBPL):c.285C>T (p.Asn95=) rs373232503
NM_025152.2(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.2(NUBPL):c.369G>A (p.Pro123=) rs755482148
NM_025152.2(NUBPL):c.383G>A (p.Ser128Asn) rs143612760
NM_025152.2(NUBPL):c.384C>T (p.Ser128=) rs886050450
NM_025152.2(NUBPL):c.46C>T (p.Arg16Trp) rs886050447
NM_025152.2(NUBPL):c.488C>T (p.Ser163Leu) rs781341998
NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.2(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.2(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.2(NUBPL):c.639C>T (p.Ile213=) rs35330765
NM_025152.2(NUBPL):c.677G>A (p.Arg226His) rs79498789
NM_025152.2(NUBPL):c.685C>T (p.His229Tyr) rs35867418
NM_025152.2(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.2(NUBPL):c.894T>A (p.Asp298Glu) rs770850110
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-21_-20dupGC rs886060725
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_174889.4(NDUFAF2):c.128-14C>G rs537327206
NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863
NM_174889.4(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726
NM_174889.4(NDUFAF2):c.196G>C (p.Asp66His) rs769579395
NM_174889.4(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045
NM_174889.4(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218
NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.4(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_174889.4(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068
NM_175614.4(NDUFA11):c.*55G>C rs771648754
NM_175614.4(NDUFA11):c.*59C>G rs191571307
NM_175614.4(NDUFA11):c.*69_*70delGT rs755637853
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.-31G>A rs886054648
NM_175614.4(NDUFA11):c.-51T>G rs886054649
NM_175614.4(NDUFA11):c.-83G>C rs562075121
NM_175614.4(NDUFA11):c.-88C>A rs8108064
NM_175614.4(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_175614.4(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.4(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_199069.1(NDUFAF3):c.*169G>C rs886058669
NM_199069.1(NDUFAF3):c.*194G>C rs78116829
NM_199069.1(NDUFAF3):c.-118G>A rs886058666
NM_199069.1(NDUFAF3):c.-126G>C rs75749590
NM_199069.1(NDUFAF3):c.-127G>C rs74601553
NM_199069.1(NDUFAF3):c.-241C>T rs573066357
NM_199069.1(NDUFAF3):c.-249C>T rs886058665
NM_199069.1(NDUFAF3):c.-363C>G rs760652685
NM_199069.1(NDUFAF3):c.-369C>T rs886058664
NM_199069.1(NDUFAF3):c.-370A>G rs886058663
NM_199069.1(NDUFAF3):c.-489T>C rs886058662
NM_199069.1(NDUFAF3):c.312C>A (p.Leu104=) rs770941671
NM_199069.1(NDUFAF3):c.338-12A>C rs774901107
NM_199069.1(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179
NM_199069.1(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.1(NDUFAF3):c.438+9C>T rs374825937
NM_199069.1(NDUFAF3):c.550C>T (p.Gln184Ter)
NM_199069.1(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668

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