ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex I deficiency, nuclear type 1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 597
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HGVS dbSNP gnomAD frequency
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090 0.02639
NM_004553.4(NDUFS6):c.-12C>T rs145747389 0.01272
NM_004544.4(NDUFA10):c.*2133A>G rs6736791 0.01130
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_025152.3(NUBPL):c.*806A>G rs139044047 0.00955
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_025152.3(NUBPL):c.*736C>G rs111321293 0.00901
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) rs146562956 0.00828
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988 0.00827
NM_004544.4(NDUFA10):c.*647C>T rs116254382 0.00794
NM_007103.3(NDUFV1):c.-74T>C rs373383800 0.00728
NM_004544.4(NDUFA10):c.*1453G>A rs192964209 0.00706
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972 0.00667
NM_005006.7(NDUFS1):c.-75A>G rs138818421 0.00612
NM_001377299.1(NDUFS2):c.1212+7A>G rs36233987 0.00606
NM_001377299.1(NDUFS2):c.514+11C>T rs76309459 0.00593
NM_007103.4(NDUFV1):c.326+12G>A rs184136353 0.00588
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_005006.7(NDUFS1):c.*341A>G rs150214409 0.00460
NM_004550.5(NDUFS2):c.-223C>G rs74124661 0.00446
NM_004550.5(NDUFS2):c.-298C>G rs41270845 0.00436
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_014165.4(NDUFAF4):c.*482A>G rs56240093 0.00378
NM_005006.7(NDUFS1):c.*426T>G rs114402169 0.00369
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_004553.6(NDUFS6):c.*46C>T rs145407020 0.00336
NM_001377299.1(NDUFS2):c.*108A>T rs191955041 0.00316
NM_017547.4(FOXRED1):c.*432T>G rs185024577 0.00304
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_004544.4(NDUFA10):c.*925C>G rs149563558 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_025152.3(NUBPL):c.*301G>T rs189475622 0.00290
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_004544.4(NDUFA10):c.*1943A>G rs148829605 0.00283
NM_199069.1(NDUFAF3):c.-241C>T rs573066357 0.00274
NM_001377299.1(NDUFS2):c.1355-4C>G rs147235167 0.00265
NM_014165.4(NDUFAF4):c.*782T>C rs190211537 0.00260
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_017547.3(FOXRED1):c.-163G>C rs552937899 0.00259
NM_004544.4(NDUFA10):c.*546G>A rs192485848 0.00252
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180 0.00237
NM_014165.4(NDUFAF4):c.*294T>G rs555318888 0.00233
NM_001377299.1(NDUFS2):c.866+8G>A rs142594036 0.00231
NM_004550.5(NDUFS2):c.-346G>A rs189165754 0.00223
NM_004544.4(NDUFA10):c.*372C>T rs143693330 0.00222
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073 0.00215
NM_004544.4(NDUFA10):c.*1161C>T rs184925264 0.00213
NM_199069.1(NDUFAF3):c.-126G>C rs75749590 0.00207
NM_199069.1(NDUFAF3):c.-127G>C rs74601553 0.00207
NM_004544.4(NDUFA10):c.*632G>A rs189306598 0.00206
NM_004544.4(NDUFA10):c.-38T>G rs374970309 0.00206
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_004550.5(NDUFS2):c.-20C>T rs201554004 0.00203
NM_175614.4(NDUFA11):c.-83G>C rs562075121 0.00199
NM_021074.5(NDUFV2):c.-30G>T rs139650842 0.00198
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219 0.00194
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765 0.00187
NM_004544.4(NDUFA10):c.*3141C>T rs144864637 0.00185
NM_021074.5(NDUFV2):c.-13A>G rs369562850 0.00182
NM_004550.5(NDUFS2):c.-218G>A rs563669084 0.00175
NM_016013.4(NDUFAF1):c.-205G>C rs190265352 0.00175
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168 0.00171
NM_004544.4(NDUFA10):c.*2242T>C rs111969519 0.00170
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_004544.4(NDUFA10):c.*1198G>A rs143353868 0.00145
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012 0.00143
NM_005006.7(NDUFS1):c.*561T>C rs146538309 0.00141
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378 0.00138
NM_002488.4(NDUFA2):c.-50G>A rs143857164 0.00135
NM_004544.4(NDUFA10):c.*1879G>A rs143421241 0.00132
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418 0.00121
NM_017547.4(FOXRED1):c.*159C>T rs570233921 0.00119
NM_004544.4(NDUFA10):c.*1915G>A rs144590599 0.00117
NM_025152.3(NUBPL):c.256+14T>C rs377077969 0.00113
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743 0.00111
NM_007103.4(NDUFV1):c.72+15G>T rs187400726 0.00109
NM_014165.4(NDUFAF4):c.*459A>G rs560563894 0.00108
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_017547.4(FOXRED1):c.417+10A>G rs180800246 0.00103
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273 0.00100
NM_004544.4(NDUFA10):c.*3095A>G rs576198967 0.00099
NM_004553.6(NDUFS6):c.*15C>T rs200445799 0.00096
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374 0.00093
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928 0.00093
NM_004544.4(NDUFA10):c.*2659A>C rs559550890 0.00091
NM_025152.3(NUBPL):c.*188T>C rs569141248 0.00091
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401 0.00083
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_014165.4(NDUFAF4):c.*119T>C rs113099906 0.00081
NM_001377299.1(NDUFS2):c.628-12C>T rs202121443 0.00075
NM_004544.4(NDUFA10):c.*3347C>T rs537694779 0.00072
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799 0.00072
NM_014165.4(NDUFAF4):c.*690G>A rs181915821 0.00071
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) rs201412882 0.00071
NM_024407.5(NDUFS7):c.*16C>T rs573586959 0.00069
NM_025152.3(NUBPL):c.*344T>C rs572496732 0.00067
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760 0.00066
NM_007103.4(NDUFV1):c.-45T>G rs373940385 0.00064
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022 0.00064
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958 0.00064
NM_025152.3(NUBPL):c.*1940A>C rs149945695 0.00064
NM_004544.4(NDUFA10):c.*1303C>T rs575940810 0.00063
NM_004544.4(NDUFA10):c.*2297T>G rs773090030 0.00063
NM_005006.7(NDUFS1):c.*438C>T rs561980718 0.00057
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_004544.4(NDUFA10):c.*1482C>G rs557576958 0.00054
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819 0.00053
NM_016013.4(NDUFAF1):c.-165C>T rs561102841 0.00053
NM_005006.7(NDUFS1):c.*151T>C rs533179154 0.00052
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721 0.00051
NM_199069.2(NDUFAF3):c.*98A>G rs117051791 0.00050
NM_005006.7(NDUFS1):c.*938C>T rs780498090 0.00049
NM_025152.3(NUBPL):c.-13A>G rs754769393 0.00049
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_014165.4(NDUFAF4):c.*1368A>G rs563778638 0.00046
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928 0.00045
NM_004544.4(NDUFA10):c.*2149C>T rs570872300 0.00044
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315 0.00044
NM_199069.1(NDUFAF3):c.-363C>G rs760652685 0.00043
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471 0.00042
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745 0.00042
NM_016013.4(NDUFAF1):c.-352C>T rs532681188 0.00041
NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=) rs149953813 0.00040
NM_002496.4(NDUFS8):c.*44C>T rs201815115 0.00040
NM_007103.4(NDUFV1):c.155+12C>T rs199963966 0.00039
NM_002496.4(NDUFS8):c.200-14C>T rs373128833 0.00038
NM_016013.4(NDUFAF1):c.-137C>T rs369431865 0.00038
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131 0.00038
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) rs202104160 0.00037
NM_004544.4(NDUFA10):c.*1992C>T rs373034894 0.00036
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_025152.3(NUBPL):c.*357C>G rs576520205 0.00034
NM_004551.3(NDUFS3):c.*32G>A rs189495301 0.00033
NM_175614.5(NDUFA11):c.*59C>G rs191571307 0.00033
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_016013.4(NDUFAF1):c.-293C>T rs760649120 0.00031
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960 0.00029
NM_199069.2(NDUFAF3):c.271-10C>G rs200789117 0.00029
NM_004544.4(NDUFA10):c.*679A>G rs374065697 0.00027
NM_017547.4(FOXRED1):c.*374T>G rs576196293 0.00027
NM_004544.4(NDUFA10):c.*1206G>A rs192203978 0.00024
NM_004544.4(NDUFA10):c.*1245G>A rs187916829 0.00024
NM_004544.4(NDUFA10):c.*2685C>A rs114807372 0.00024
NM_025152.3(NUBPL):c.*850C>T rs370650416 0.00024
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179 0.00024
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=) rs145959971 0.00023
NM_004544.4(NDUFA10):c.*183C>T rs112660586 0.00023
NM_005006.7(NDUFS1):c.-64T>C rs145023130 0.00023
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777 0.00022
NM_014165.4(NDUFAF4):c.*986A>C rs192839240 0.00022
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) rs141187412 0.00021
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_005006.7(NDUFS1):c.*966A>G rs755776989 0.00021
NM_002488.4(NDUFA2):c.-63G>A rs748460855 0.00020
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586 0.00020
NM_004551.3(NDUFS3):c.*39C>T rs145121567 0.00020
NM_007103.4(NDUFV1):c.700+12C>T rs200417926 0.00020
NM_025152.3(NUBPL):c.*905A>C rs750277296 0.00020
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) rs200576852 0.00020
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=) rs145578059 0.00019
NM_005006.7(NDUFS1):c.*130A>C rs200736574 0.00019
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483 0.00019
NM_001377299.1(NDUFS2):c.1354+10C>A rs201275792 0.00018
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) rs148726142 0.00018
NM_199069.2(NDUFAF3):c.*169G>C rs886058669 0.00017
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411 0.00016
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743 0.00016
NM_025152.3(NUBPL):c.-7C>T rs201073307 0.00016
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) rs146540015 0.00015
NM_004553.6(NDUFS6):c.*27A>G rs370587409 0.00014
NM_005006.7(NDUFS1):c.*866A>C rs749790811 0.00014
NM_004544.4(NDUFA10):c.*1057T>G rs541016943 0.00013
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_017547.4(FOXRED1):c.-31A>G rs368307265 0.00013
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459 0.00013
NM_004544.4(NDUFA10):c.*2111G>A rs752139055 0.00012
NM_004553.6(NDUFS6):c.*99G>C rs994577006 0.00012
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00012
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123 0.00012
NM_025152.3(NUBPL):c.109-11A>T rs886050448 0.00012
NM_025152.3(NUBPL):c.777A>G (p.Ala259=) rs368513010 0.00012
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) rs199504381 0.00012
NM_004544.4(NDUFA10):c.*2649G>A rs886055815 0.00011
NM_004544.4(NDUFA10):c.*3409G>A rs146483651 0.00011
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_017547.3(FOXRED1):c.-151C>A rs546439717 0.00011
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700 0.00011
NM_025152.3(NUBPL):c.*1048G>A rs886050455 0.00011
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218 0.00011
NM_001377299.1(NDUFS2):c.515-3C>A rs149789018 0.00010
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587 0.00010
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) rs143216424 0.00010
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=) rs41428447 0.00009
NM_002488.4(NDUFA2):c.-114T>A rs760264090 0.00009
NM_004544.4(NDUFA10):c.*3067C>T rs564992184 0.00009
NM_004544.4(NDUFA10):c.*765C>T rs144208727 0.00009
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) rs138887128 0.00009
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) rs773111037 0.00009
NM_025152.3(NUBPL):c.*1609G>A rs142179743 0.00009
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503 0.00009
NM_199069.1(NDUFAF3):c.-249C>T rs886058665 0.00009
NM_004544.4(NDUFA10):c.*1214C>T rs546735567 0.00008
NM_004544.4(NDUFA10):c.*2900G>A rs752124492 0.00008
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) rs77785510 0.00008
NM_025152.3(NUBPL):c.*1047C>T rs913575962 0.00008
NM_025152.3(NUBPL):c.*864C>T rs996734164 0.00008
NM_002496.4(NDUFS8):c.502-10C>T rs369961682 0.00007
NM_004544.4(NDUFA10):c.*1486C>T rs746931112 0.00007
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) rs3740654 0.00007
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly) rs139086727 0.00007
NM_017547.4(FOXRED1):c.418-1G>T rs771941278 0.00007
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) rs757488156 0.00007
NM_025152.3(NUBPL):c.*1554A>G rs967796383 0.00007
NM_025152.3(NUBPL):c.*561G>A rs189555353 0.00007
NM_025152.3(NUBPL):c.*72T>C rs975175643 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_199069.2(NDUFAF3):c.78-15C>G rs587781096 0.00007
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) rs754241926 0.00006
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688 0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_004544.4(NDUFA10):c.*3205G>A rs886055811 0.00006
NM_004544.4(NDUFA10):c.*361A>G rs778261754 0.00006
NM_004550.5(NDUFS2):c.-156G>A rs886045457 0.00006
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655 0.00006
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187 0.00006
NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274 0.00006
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) rs769276632 0.00006
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500 0.00006
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800 0.00006
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358 0.00006
NM_175614.4(NDUFA11):c.-282T>C rs779432735 0.00006
NM_175614.5(NDUFA11):c.*63G>A rs749166288 0.00006
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr) rs140731056 0.00005
NM_002496.4(NDUFS8):c.199+5G>A rs373522607 0.00005
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) rs139334907 0.00005
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) rs118106981 0.00005
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) rs928084265 0.00005
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922 0.00005
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516 0.00005
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro) rs375454069 0.00005
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) rs777315728 0.00005
NM_025152.3(NUBPL):c.*1840A>G rs886050471 0.00005
NM_025152.3(NUBPL):c.*355T>C rs886050452 0.00005
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) rs751219189 0.00005
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148 0.00005
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998 0.00005
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_001377299.1(NDUFS2):c.95+14C>T rs751472475 0.00004
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416 0.00004
NM_002495.4(NDUFS4):c.-22C>A rs144843461 0.00004
NM_004544.4(NDUFA10):c.*1594G>A rs773071160 0.00004
NM_004544.4(NDUFA10):c.*2455C>G rs756778773 0.00004
NM_004544.4(NDUFA10):c.*3557G>A rs149933652 0.00004
NM_004544.4(NDUFA10):c.*428C>T rs557106858 0.00004
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) rs759587515 0.00004
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296 0.00004
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915 0.00004
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520 0.00004
NM_014165.4(NDUFAF4):c.*1213C>T rs1456765249 0.00004
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) rs372832376 0.00004
NM_017547.4(FOXRED1):c.*71A>G rs763886127 0.00004
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val) rs139029287 0.00004
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112 0.00004
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg) rs368843227 0.00004
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046 0.00004
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) rs565395435 0.00004
NM_024407.5(NDUFS7):c.455+13C>T rs376025020 0.00004
NM_025152.3(NUBPL):c.-25A>G rs749942385 0.00004
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) rs79498789 0.00004
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) rs550008432 0.00004
NM_175614.4(NDUFA11):c.-143C>G rs550697802 0.00004
NM_175614.4(NDUFA11):c.-300G>A rs563822139 0.00004
NM_175614.5(NDUFA11):c.-31G>A rs886054648 0.00004
NM_199069.2(NDUFAF3):c.*243G>A rs941353519 0.00004
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe) rs373060774 0.00004
NM_002488.4(NDUFA2):c.-53A>G rs747127939 0.00003
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333 0.00003
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) rs201430870 0.00003
NM_004544.4(NDUFA10):c.*1011A>G rs575477219 0.00003
NM_004544.4(NDUFA10):c.*2648C>T rs953906857 0.00003
NM_004544.4(NDUFA10):c.*3098A>T rs886055813 0.00003
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820 0.00003
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=) rs886060511 0.00003
NM_005006.7(NDUFS1):c.-61G>C rs367762150 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879 0.00003
NM_014165.4(NDUFAF4):c.*1334G>A rs763941216 0.00003
NM_014165.4(NDUFAF4):c.-49C>T rs372635399 0.00003
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712 0.00003
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338 0.00003
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) rs775410920 0.00003
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806 0.00003
NM_025152.3(NUBPL):c.*1370C>T rs1031134034 0.00003
NM_025152.3(NUBPL):c.*1621C>T rs1315512923 0.00003
NM_025152.3(NUBPL):c.*2036A>C rs886050472 0.00003
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045 0.00003
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107 0.00003
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=) rs140324736 0.00002
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=) rs200255683 0.00002
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) rs1022912416 0.00002
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_004544.4(NDUFA10):c.*1665C>A rs1314058965 0.00002
NM_004544.4(NDUFA10):c.*2382C>A rs1289543938 0.00002
NM_004544.4(NDUFA10):c.*3113G>A rs886055812 0.00002
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872 0.00002
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) rs749199433 0.00002
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) rs1222086753 0.00002
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502 0.00002
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) rs753686111 0.00002
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) rs368184231 0.00002
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825 0.00002
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824 0.00002
NM_014165.4(NDUFAF4):c.-65C>G rs1463385663 0.00002
NM_016013.4(NDUFAF1):c.-140C>T rs886051144 0.00002
NM_016013.4(NDUFAF1):c.-34C>G rs751720445 0.00002
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045 0.00002
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) rs751634994 0.00002
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) rs749675822 0.00002
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152 0.00002
NM_025152.3(NUBPL):c.422+8T>C rs868061310 0.00002
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068 0.00002
NM_175614.4(NDUFA11):c.-210T>C rs886054650 0.00002
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=) rs941748424 0.00002
NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile) rs551062879 0.00002
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937 0.00002
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=) rs886045464 0.00001
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=) rs569128565 0.00001
NM_002488.4(NDUFA2):c.-145T>A rs886060017 0.00001
NM_002496.4(NDUFS8):c.*26T>G rs886048592 0.00001
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259 0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134 0.00001
NM_002496.4(NDUFS8):c.501+12C>G rs372004236 0.00001
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) rs1371377502 0.00001
NM_004544.4(NDUFA10):c.*105G>A rs886055825 0.00001
NM_004544.4(NDUFA10):c.*1262C>T rs759194775 0.00001
NM_004544.4(NDUFA10):c.*1709T>C rs562457080 0.00001
NM_004544.4(NDUFA10):c.*1927G>C rs1227609332 0.00001
NM_004544.4(NDUFA10):c.*1930C>G rs535714073 0.00001
NM_004544.4(NDUFA10):c.*2192T>A rs886055817 0.00001
NM_004544.4(NDUFA10):c.*2350G>A rs1218747092 0.00001
NM_004544.4(NDUFA10):c.*3143C>T rs1357789210 0.00001
NM_004544.4(NDUFA10):c.*3711A>G rs1466622883 0.00001
NM_004544.4(NDUFA10):c.*445C>G rs563264912 0.00001
NM_004544.4(NDUFA10):c.*489A>G rs886055824 0.00001
NM_004544.4(NDUFA10):c.*804T>C rs1422021026 0.00001
NM_004544.4(NDUFA10):c.*857G>C rs1303822860 0.00001
NM_004544.4(NDUFA10):c.460+5A>G rs1158773739 0.00001
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) rs980893132 0.00001
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) rs1188020120 0.00001
NM_004550.5(NDUFS2):c.-159C>A rs886045456 0.00001
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) rs201457989 0.00001
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) rs780005953 0.00001
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760 0.00001
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) rs201371939 0.00001
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617 0.00001
NM_004553.6(NDUFS6):c.27G>C (p.Arg9=) rs886060512 0.00001
NM_005006.7(NDUFS1):c.*641A>G rs886055501 0.00001
NM_005006.7(NDUFS1):c.*756A>T rs755460274 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) rs1434275816 0.00001
NM_005006.7(NDUFS1):c.261+6T>C rs748906579 0.00001
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) rs780235386 0.00001
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275 0.00001
NM_005006.7(NDUFS1):c.63T>C (p.Val21=) rs756632601 0.00001
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372 0.00001
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) rs201727252 0.00001
NM_007103.4(NDUFV1):c.1308+7A>T rs767679135 0.00001
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121 0.00001
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589 0.00001
NM_014165.4(NDUFAF4):c.*1728G>A rs1775284209 0.00001
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823 0.00001
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) rs760918613 0.00001
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu) rs1406147170 0.00001
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys) rs759057658 0.00001
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=) rs764849578 0.00001
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser) rs759432475 0.00001
NM_017547.4(FOXRED1):c.*211T>C rs1245337651 0.00001
NM_017547.4(FOXRED1):c.*392G>A rs886047983 0.00001
NM_017547.4(FOXRED1):c.*85T>C rs372575072 0.00001
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser) rs1036245067 0.00001
NM_017547.4(FOXRED1):c.307-14T>C rs541684918 0.00001
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp) rs140745629 0.00001
NM_017547.4(FOXRED1):c.537-11G>A rs199599636 0.00001
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680 0.00001
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) rs886047982 0.00001
NM_021074.5(NDUFV2):c.*57C>T rs977177603 0.00001
NM_021074.5(NDUFV2):c.120+1G>C rs749991624 0.00001
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter) rs771236417 0.00001
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=) rs547252886 0.00001
NM_024407.5(NDUFS7):c.*8G>A rs756081375 0.00001
NM_024407.5(NDUFS7):c.*94G>A rs1329105128 0.00001
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388 0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) rs1193585808 0.00001
NM_025152.3(NUBPL):c.*135T>G rs377738028 0.00001
NM_025152.3(NUBPL):c.*1963C>A rs1164142579 0.00001
NM_025152.3(NUBPL):c.*527G>A rs560274677 0.00001
NM_025152.3(NUBPL):c.*638C>G rs886050454 0.00001
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) rs886050450 0.00001
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) rs886050447 0.00001
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) rs765747555 0.00001
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110 0.00001
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) rs773988847 0.00001
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962 0.00001
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser) rs1192917919 0.00001
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) rs759189660 0.00001
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671 0.00001
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668 0.00001
NM_001377299.1(NDUFS2):c.*187G>A rs886045469
NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) rs1255776529
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A rs1740746273
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) rs1329465366
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) rs746246241
NM_004544.4(NDUFA10):c.*1047T>C rs1694787943
NM_004544.4(NDUFA10):c.*1124C>T rs754187471
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1391C>T rs552149779
NM_004544.4(NDUFA10):c.*1586A>G rs1483288404
NM_004544.4(NDUFA10):c.*1702G>A rs1694755462
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*2009G>C rs370309206
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2046T>C rs1694740787
NM_004544.4(NDUFA10):c.*2079A>G rs1574808891
NM_004544.4(NDUFA10):c.*2136T>C rs943989946
NM_004544.4(NDUFA10):c.*2838C>A rs532456176
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3009T>C rs1694711139
NM_004544.4(NDUFA10):c.*3052G>A rs1003876097
NM_004544.4(NDUFA10):c.*3175T>G rs1694704488
NM_004544.4(NDUFA10):c.*3301C>T rs1694700570
NM_004544.4(NDUFA10):c.*3403A>G rs1574807018
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3456T>G rs1694694826
NM_004544.4(NDUFA10):c.*3490G>C rs1694693520
NM_004544.4(NDUFA10):c.*3724G>A rs1694684016
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*435A>G rs1054245819
NM_004544.4(NDUFA10):c.*548G>C rs1694810369
NM_004544.4(NDUFA10):c.*732T>G rs1349086163
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*861C>G rs551167199
NM_004544.4(NDUFA10):c.-34C>T rs920826583
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) rs201449418
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) rs558134843
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) rs1258770997
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) rs1559403435
NM_004544.4(NDUFA10):c.558C>T (p.His186=) rs1407750102
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) rs148656779
NM_004544.4(NDUFA10):c.749+5G>A rs1697147446
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) rs758042753
NM_004550.5(NDUFS2):c.-28C>T rs886045458
NM_004550.5(NDUFS2):c.-388G>A rs3813623
NM_004551.3(NDUFS3):c.-15C>G rs950097510
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.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) rs773943416
NM_004553.6(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_005006.6(NDUFS1):c.-149T>G rs572965960
NM_005006.7(NDUFS1):c.*1077A>T rs917604810
NM_005006.7(NDUFS1):c.*459A>G rs1691173843
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*864G>A rs1691159722
NM_005006.7(NDUFS1):c.-101G>A rs983757976
NM_005006.7(NDUFS1):c.-31A>G rs1687818178
NM_005006.7(NDUFS1):c.-38T>G rs1559071008
NM_005006.7(NDUFS1):c.-73C>A rs367649369
NM_005006.7(NDUFS1):c.-76G>A rs116137442
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) rs78042826
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) rs1367512688
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) rs1692265722
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) rs774232299
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.3(NDUFV1):c.-159G>T rs1387676031
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-61A>G rs947406124
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) rs1854932368
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) rs147719815
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) rs1432435322
NM_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1247A>G rs1775290779
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*14A>C rs1775308769
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*289C>T rs143895125
NM_014165.4(NDUFAF4):c.*305C>A rs576437181
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.-11G>T rs571796525
NM_014165.4(NDUFAF4):c.-20G>T rs1186295770
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) rs1562146819
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-192T>C rs948869374
NM_016013.4(NDUFAF1):c.-242G>C rs762867624
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln) rs576430165
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
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.721A>G (p.Met241Val) rs769371844
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=) rs560953332
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=) rs1951030849
NM_017547.4(FOXRED1):c.417+6T>C rs1951035111
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.9G>A (p.Arg3=) rs28372779
NM_021074.5(NDUFV2):c.*51A>C rs1188007874
NM_021074.5(NDUFV2):c.-39G>T rs748188888
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.5(NDUFV2):c.301-10A>G rs756241126
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu) rs2077948602
NM_021074.5(NDUFV2):c.469+12A>G rs538112556
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=) rs1372175274
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_025152.3(NUBPL):c.*1015C>A rs551958784
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*1260T>C rs551289319
NM_025152.3(NUBPL):c.*1594T>G rs2040700976
NM_025152.3(NUBPL):c.*1619C>T rs886050468
NM_025152.3(NUBPL):c.*1655A>G rs1407466515
NM_025152.3(NUBPL):c.*1768G>A rs2040704041
NM_025152.3(NUBPL):c.*1773A>G rs886050469
NM_025152.3(NUBPL):c.*1776G>A rs886050470
NM_025152.3(NUBPL):c.*237G>T rs1566603021
NM_025152.3(NUBPL):c.*323G>T rs2040678852
NM_025152.3(NUBPL):c.*742C>G rs760265792
NM_025152.3(NUBPL):c.*817T>A rs2040686751
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val) rs2033400591
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.90G>A (p.Ala30=) rs773747183
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) rs1752321893
NM_175614.5(NDUFA11):c.*55G>C rs771648754
NM_175614.5(NDUFA11):c.-51T>G rs886054649
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser) rs2057614252
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) rs1345378776
NM_199069.1(NDUFAF3):c.-143A>T rs2093162490
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.-503G>A rs774579592
NM_199069.1(NDUFAF3):c.-503G>C rs774579592
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu) rs2093169670
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) rs1378867079
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371

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