ClinVar Miner

List of variants studied for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2759
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HGVS dbSNP gnomAD frequency
NM_001303.3(COX10):c.-112G>A rs6502330 0.99477
NM_002496.4(NDUFS8):c.59-22C>G rs3133266 0.97614
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_001916.5(CYC1):c.226A>G (p.Met76Val) rs7820984 0.95875
NM_006003.3(UQCRFS1):c.24A>G (p.Ser8=) rs11666764 0.92783
NM_006003.3(UQCRFS1):c.16T>G (p.Ser6Ala) rs8100724 0.92663
NM_152416.4(NDUFAF6):c.*16T>C rs2678832 0.91103
NM_014165.4(NDUFAF4):c.*382T>A rs1971475 0.90137
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_001916.5(CYC1):c.99T>G (p.Arg33=) rs11541475 0.86270
NM_004553.6(NDUFS6):c.132+26A>C rs2242412 0.85626
NM_001916.5(CYC1):c.772+19_772+20del rs200379271 0.85101
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_024120.5(NDUFAF5):c.264-108A>G rs6042362 0.76777
NM_004553.6(NDUFS6):c.309+208T>C rs4147773 0.73596
NM_005002.5(NDUFA9):c.552+11A>C rs7972657 0.72251
NM_017547.4(FOXRED1):c.-2T>C rs1786702 0.71634
NC_000008.11:g.124557903G>A rs4870903 0.71134
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_175614.4(NDUFA11):c.-217A>G rs1056987 0.68730
NM_001085372.3(UQCC3):c.265G>A (p.Gly89Ser) rs13941 0.68239
NC_000008.11:g.124567749C>T rs6470252 0.67255
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_175614.4(NDUFA11):c.-88C>A rs8108064 0.64945
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_174889.5(NDUFAF2):c.217+42A>G rs10471502 0.61728
NM_025152.3(NUBPL):c.*995T>C rs10136892 0.59892
NM_017775.4(TTC19):c.*1236_*1237dup rs61349729 0.59681
NM_004544.4(NDUFA10):c.*3450G>A rs7573892 0.59554
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354 0.55696
NM_004544.4(NDUFA10):c.*1957G>A rs4854069 0.55325
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_005006.7(NDUFS1):c.*336G>T rs1044120 0.52989
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_017866.6(TMEM70):c.211-30A>G rs62509309 0.48221
NM_017775.4(TTC19):c.*1791T>C rs9890012 0.48213
NM_017866.6(TMEM70):c.*24C>T rs7108 0.48050
NM_004589.4(SCO1):c.*722C>G rs7512 0.46449
NM_017775.4(TTC19):c.313-39A>G rs3760298 0.46016
NM_025152.3(NUBPL):c.*1874A>G rs10348 0.45711
NM_025152.3(NUBPL):c.*1694G>A rs1129623 0.44285
NM_025152.3(NUBPL):c.*1685A>G rs1129622 0.44269
NM_005006.7(NDUFS1):c.1134-32G>T rs4147718 0.43879
NM_014402.5(UQCRQ):c.*1193A>G rs254284 0.43130
NM_002495.4(NDUFS4):c.*46G>A rs567 0.42121
NM_001193375.3(NDUFA11):c.661A>G (p.Thr221Ala) rs1678868 0.41511
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_002488.4(NDUFA2):c.-136A>G rs778594 0.38702
NM_002488.4(NDUFA2):c.-48A>G rs778593 0.38666
NM_005002.5(NDUFA9):c.553-17G>A rs2267549 0.38648
NM_002490.6(NDUFA6):c.26C>T (p.Ala9Val) rs1801311 0.37980
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_024407.5(NDUFS7):c.455+71G>A rs2074897 0.34114
NM_016589.4(TIMMDC1):c.597-35G>T rs4461452 0.31250
NM_006294.5(UQCRB):c.258+282C>T rs2292835 0.30786
NM_004544.4(NDUFA10):c.*1189C>T rs66534347 0.30437
NM_001136193.2(FASTKD2):c.*627T>C rs1048783 0.30015
NM_004544.4(NDUFA10):c.*414G>A rs13424612 0.28510
NM_004544.4(NDUFA10):c.*3204C>T rs34277046 0.28460
NM_014165.4(NDUFAF4):c.*332A>T rs10499008 0.28157
NM_001303.4(COX10):c.*1385C>T rs1050223 0.26244
NM_017866.6(TMEM70):c.*892A>G rs2291217 0.25319
NM_004553.6(NDUFS6):c.187-84C>T rs3752844 0.25262
NM_017866.6(TMEM70):c.-23C>T rs2306486 0.24480
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762 0.23921
NM_014165.4(NDUFAF4):c.*301T>A rs1854268 0.23899
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_017866.6(TMEM70):c.*771G>A rs6472811 0.23535
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_017866.6(TMEM70):c.*169A>G rs1053054 0.23523
NM_001303.4(COX10):c.*1078C>T rs13183 0.23332
NM_001303.4(COX10):c.*297G>A rs8076247 0.23328
NM_025152.3(NUBPL):c.*312G>A rs10162516 0.22998
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_025152.3(NUBPL):c.*1888G>A rs7148746 0.22286
NM_025152.3(NUBPL):c.*444C>T rs10162515 0.21109
NM_017547.4(FOXRED1):c.*129C>G rs594318 0.19642
NM_017547.4(FOXRED1):c.*113G>A rs667627 0.18697
NM_001136193.2(FASTKD2):c.*1450T>A rs201735381 0.18645
NM_001136193.2(FASTKD2):c.*1215G>A rs111954117 0.18633
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_001303.4(COX10):c.*371A>G rs11078234 0.18397
NM_001303.4(COX10):c.*1076T>C rs1050216 0.17502
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_024120.5(NDUFAF5):c.263+81T>G rs6042361 0.17325
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_001303.4(COX10):c.*757T>C rs1802618 0.15929
NM_001303.4(COX10):c.*322T>C rs11078233 0.15800
NM_001303.3(COX10):c.-109G>A rs28680987 0.15186
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_025152.3(NUBPL):c.514-32A>G rs7159193 0.13387
NM_001377299.1(NDUFS2):c.*114A>G rs1136224 0.13305
NM_025152.3(NUBPL):c.*122G>C rs4981131 0.13131
NM_001136193.2(FASTKD2):c.*3005A>G rs1001805 0.13062
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991 0.13052
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_001136193.2(FASTKD2):c.*2069T>A rs2193885 0.12437
NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568 0.12294
NM_001136193.2(FASTKD2):c.-184C>T rs3762567 0.12134
NM_001136193.2(FASTKD2):c.*1475dup rs111441789 0.11989
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_004550.5(NDUFS2):c.-388G>T rs3813623 0.11879
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326 0.11754
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494 0.11689
NM_004544.4(NDUFA10):c.*308C>T rs8369 0.11658
NM_004544.4(NDUFA10):c.*2309G>A rs1132778 0.11433
NM_021074.4(NDUFV2):c.*77C>G rs12454908 0.11308
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_014402.5(UQCRQ):c.*678G>A rs55767930 0.11178
NM_004544.4(NDUFA10):c.*2602C>T rs58261980 0.10946
NM_004553.6(NDUFS6):c.310-15T>C rs10058270 0.10920
NM_014402.5(UQCRQ):c.*757G>A rs17624157 0.10519
NM_025152.3(NUBPL):c.*273C>T rs76188062 0.10021
NM_025152.3(NUBPL):c.*537dup rs200626091 0.09955
NM_001863.4(COX6B1):c.-145G>A rs10420252 0.09679
NM_005138.3(SCO2):c.-18G>A rs74479613 0.09346
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109 0.08960
NM_014165.4(NDUFAF4):c.*323A>T rs9487453 0.08584
NM_017775.4(TTC19):c.*46T>C rs3744328 0.08127
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_145691.4(ATPAF2):c.*165C>T rs34673242 0.06601
NM_017775.4(TTC19):c.*857G>A rs72821769 0.06575
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_001079866.2(BCS1L):c.655+63C>T rs36085075 0.05627
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_024407.5(NDUFS7):c.408+10G>T rs2074896 0.05515
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05496
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083 0.05390
NM_004544.4(NDUFA10):c.*631C>T rs10933622 0.05326
NM_017775.4(TTC19):c.*709T>A rs11554356 0.05165
NM_017775.4(TTC19):c.*600G>A rs73981413 0.05160
NM_017775.4(TTC19):c.*971G>A rs73981414 0.05160
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859 0.05117
NM_001136193.2(FASTKD2):c.*672T>A rs61672260 0.05029
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187 0.05020
NM_014165.4(NDUFAF4):c.*350A>C rs41288598 0.04940
NC_000017.11:g.10697578C>A rs2520169 0.04792
NM_004589.4(SCO1):c.*310C>T rs2662957 0.04323
NM_004589.4(SCO1):c.*272T>C rs2662956 0.04198
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.04192
NM_024120.5(NDUFAF5):c.849G>A (p.Ala283=) rs34901599 0.04132
NM_001303.4(COX10):c.928+12G>A rs200573622 0.04100
NM_007103.4(NDUFV1):c.-66G>A rs73490568 0.04056
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850 0.03828
NM_004544.4(NDUFA10):c.*3075T>G rs7588974 0.03737
NM_025152.3(NUBPL):c.*1451C>T rs28533800 0.03631
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830 0.03541
NM_001136193.2(FASTKD2):c.*4009G>A rs75079512 0.03496
NM_001136193.2(FASTKD2):c.*3080C>A rs77797215 0.03493
NM_014165.4(NDUFAF4):c.*387C>T rs41288596 0.03489
NM_017775.4(TTC19):c.-15G>A rs73276080 0.03466
NM_017775.3(TTC19):c.-347C>A rs60636875 0.03461
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_017775.4(TTC19):c.573G>A (p.Ala191=) rs58517927 0.03420
NM_001136193.2(FASTKD2):c.*557A>G rs7559712 0.03356
NM_017866.6(TMEM70):c.*785G>A rs66498650 0.03323
NM_016013.4(NDUFAF1):c.-379C>T rs146883891 0.03244
NM_005006.7(NDUFS1):c.*733A>G rs6707707 0.03241
NM_014165.4(NDUFAF4):c.*639A>C rs11759571 0.03170
NM_001136193.2(FASTKD2):c.*87A>G rs115098389 0.02973
NM_001136193.2(FASTKD2):c.*3450G>C rs141681457 0.02968
NM_017775.4(TTC19):c.*1589T>C rs117133932 0.02959
NM_005006.7(NDUFS1):c.*256C>T rs10198830 0.02838
NM_005006.7(NDUFS1):c.551+14C>A rs10206644 0.02838
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890 0.02835
NM_016013.4(NDUFAF1):c.-386A>T rs111326645 0.02811
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=) rs33997182 0.02668
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090 0.02639
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_001136193.2(FASTKD2):c.*1415T>G rs6755938 0.02498
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888 0.02420
NM_001303.4(COX10):c.-63C>T rs77877576 0.02405
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_014402.5(UQCRQ):c.*334C>T rs4415070 0.02400
NM_004544.4(NDUFA10):c.*3349G>A rs77216981 0.02367
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016 0.02302
NM_017866.6(TMEM70):c.*904A>G rs59024088 0.02244
NM_014402.5(UQCRQ):c.*644C>T rs144996711 0.02125
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_017866.6(TMEM70):c.*611T>G rs77116422 0.02056
NM_017775.4(TTC19):c.*1012T>C rs57322947 0.01995
NM_017775.4(TTC19):c.*226T>C rs73981412 0.01995
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_021074.5(NDUFV2):c.580-12T>A rs114558512 0.01953
NM_017547.4(FOXRED1):c.*190T>C rs77902129 0.01849
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_005138.2(SCO2):c.-142G>C rs145052206 0.01794
NM_001377299.1(NDUFS2):c.986+12A>G rs11265565 0.01793
NM_001303.4(COX10):c.*438G>C rs75823746 0.01767
NM_001303.4(COX10):c.*974C>A rs2071245 0.01762
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_001303.4(COX10):c.*1267A>G rs75844637 0.01645
NM_175614.4(NDUFA11):c.-234T>C rs115530541 0.01556
NM_001136193.2(FASTKD2):c.*9T>C rs10194665 0.01553
NM_001303.4(COX10):c.*1101C>T rs75165393 0.01548
NM_002496.4(NDUFS8):c.-45A>C rs4147776 0.01538
NM_004544.4(NDUFA10):c.*2511C>T rs74540213 0.01512
NM_017866.6(TMEM70):c.*494T>C rs143011318 0.01502
NM_017775.4(TTC19):c.*1543A>G rs118174899 0.01464
NM_016360.4(TACO1):c.*343C>T rs116289277 0.01456
NM_014165.4(NDUFAF4):c.*1299G>A rs73758053 0.01451
NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) rs35252424 0.01444
NM_017866.6(TMEM70):c.379A>G (p.Thr127Ala) rs61734099 0.01433
NM_025152.3(NUBPL):c.*26C>G rs76130953 0.01425
NM_001079866.2(BCS1L):c.1007+16G>A rs115594405 0.01345
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_001136193.2(FASTKD2):c.1254+9A>C rs10177169 0.01315
NM_001370595.2(COA8):c.351A>G (p.Leu117=) rs71417867 0.01287
NM_004553.4(NDUFS6):c.-12C>T rs145747389 0.01272
NM_001861.6(COX4I1):c.228T>C (p.Asp76=) rs4885 0.01264
NM_004544.4(NDUFA10):c.*396C>G rs73103629 0.01256
NM_014165.4(NDUFAF4):c.*1214G>A rs17057099 0.01241
NM_004544.4(NDUFA10):c.*1217A>G rs116403651 0.01210
NM_004544.4(NDUFA10):c.*2133A>G rs6736791 0.01130
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_004544.4(NDUFA10):c.*1878C>T rs80067639 0.01081
NM_001136193.2(FASTKD2):c.1187A>G (p.Asn396Ser) rs79652942 0.01063
NM_001303.4(COX10):c.*1079G>A rs116445114 0.01056
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280 0.01045
NM_017775.3(TTC19):c.-452G>A rs61747574 0.01028
NM_004544.4(NDUFA10):c.*3544C>T rs114944621 0.01013
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_001136193.2(FASTKD2):c.-162C>T rs16838842 0.00997
NM_017775.4(TTC19):c.*195A>G rs116412774 0.00988
NM_025152.3(NUBPL):c.*806A>G rs139044047 0.00955
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_001136193.2(FASTKD2):c.*2463T>C rs138682114 0.00943
NM_001136193.2(FASTKD2):c.*4266G>A rs80251300 0.00937
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497 0.00925
NM_025152.3(NUBPL):c.*736C>G rs111321293 0.00901
NM_017775.4(TTC19):c.758C>T (p.Pro253Leu) rs78882347 0.00878
NM_004544.4(NDUFA10):c.*407C>T rs74614612 0.00847
NM_001136193.2(FASTKD2):c.1090G>A (p.Asp364Asn) rs34709212 0.00843
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_001136193.2(FASTKD2):c.*3593G>A rs150571344 0.00796
NM_004544.4(NDUFA10):c.*647C>T rs116254382 0.00794
NM_017775.4(TTC19):c.*1152C>T rs60619976 0.00787
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_017775.4(TTC19):c.*335C>T rs117087989 0.00754
NM_007103.3(NDUFV1):c.-74T>C rs373383800 0.00728
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_017775.3(TTC19):c.-107A>T rs79724115 0.00726
NM_017775.4(TTC19):c.*1738T>C rs111241994 0.00725
NM_004544.4(NDUFA10):c.*1453G>A rs192964209 0.00706
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_001863.5(COX6B1):c.228A>G (p.Gln76=) rs116118827 0.00672
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972 0.00667
NM_014929.3(FASTKD2):c.-158T>C rs41272657 0.00634
NM_006294.5(UQCRB):c.258+268G>A rs145799884 0.00624
NM_005006.7(NDUFS1):c.-75A>G rs138818421 0.00612
NM_017866.6(TMEM70):c.*502C>A rs76016906 0.00608
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_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646 0.00585
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_014402.5(UQCRQ):c.*882G>T rs144955309 0.00562
NM_005006.7(NDUFS1):c.2019+18A>T rs55793630 0.00556
NM_014402.5(UQCRQ):c.*658A>C rs188040859 0.00545
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_017866.6(TMEM70):c.*714G>A rs116019026 0.00540
NM_004074.3(COX8A):c.111C>A (p.Ile37=) rs61759492 0.00525
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_145691.4(ATPAF2):c.*20C>G rs1128069 0.00519
NM_145691.4(ATPAF2):c.-147G>A rs75249497 0.00513
NM_017775.4(TTC19):c.*1469G>A rs185261669 0.00493
NM_145691.4(ATPAF2):c.*456T>C rs77980072 0.00488
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_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_004544.3(NDUFA10):c.-92C>T rs559797625 0.00474
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_001303.4(COX10):c.*305A>G rs143758001 0.00462
NM_004544.3(NDUFA10):c.-93G>T rs577432343 0.00460
NM_005006.7(NDUFS1):c.*341A>G rs150214409 0.00460
NM_004550.5(NDUFS2):c.-223C>G rs74124661 0.00446
NM_001136193.2(FASTKD2):c.*1180G>C rs114333222 0.00439
NM_004550.5(NDUFS2):c.-298C>G rs41270845 0.00436
NM_001136193.2(FASTKD2):c.*1202A>T rs114726254 0.00422
NM_017775.4(TTC19):c.1004C>T (p.Thr335Ile) rs78193493 0.00419
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_001136193.2(FASTKD2):c.*3355C>T rs186521301 0.00398
NM_014165.4(NDUFAF4):c.*482A>G rs56240093 0.00378
NM_017775.4(TTC19):c.*1194T>A rs116722822 0.00370
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_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_001303.4(COX10):c.*1324C>T rs75636595 0.00341
NM_004553.6(NDUFS6):c.*46C>T rs145407020 0.00336
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673 0.00322
NM_001377299.1(NDUFS2):c.*108A>T rs191955041 0.00316
NM_001687.5(ATP5F1D):c.25C>T (p.Arg9Cys) rs531544101 0.00316
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_017547.4(FOXRED1):c.*432T>G rs185024577 0.00304
NM_001136193.2(FASTKD2):c.*3710C>T rs550284931 0.00303
NM_014402.5(UQCRQ):c.*1078T>A rs149048464 0.00302
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_145691.4(ATPAF2):c.*130T>C rs117739515 0.00300
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_004544.4(NDUFA10):c.*925C>G rs149563558 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly) rs34607655 0.00291
NM_025152.3(NUBPL):c.*301G>T rs189475622 0.00290
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598 0.00289
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_001136193.2(FASTKD2):c.*2960T>C rs147381048 0.00287
NM_004544.4(NDUFA10):c.*1943A>G rs148829605 0.00283
NM_001303.4(COX10):c.*904C>G rs75839697 0.00276
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_199069.1(NDUFAF3):c.-241C>T rs573066357 0.00274
NM_001303.4(COX10):c.*1148G>A rs151138383 0.00272
NM_017866.6(TMEM70):c.-53G>A rs150775418 0.00270
NM_001377299.1(NDUFS2):c.1355-4C>G rs147235167 0.00265
NM_017775.4(TTC19):c.*578C>T rs188915420 0.00265
NM_017775.4(TTC19):c.1041A>G (p.Gln347=) rs77955179 0.00265
NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro) rs146974535 0.00264
NM_004544.4(NDUFA10):c.*1382C>T rs111337344 0.00263
NM_017866.6(TMEM70):c.*571C>T rs562758353 0.00262
NM_001136193.2(FASTKD2):c.-30T>C rs145438423 0.00261
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_016360.4(TACO1):c.742T>G (p.Ser248Ala) rs182355403 0.00258
NM_032340.4(UQCC2):c.321G>A (p.Met107Ile) rs34770331 0.00258
NM_005005.3(NDUFB9):c.24C>T (p.Pro8=) rs147044660 0.00254
NM_004544.4(NDUFA10):c.*546G>A rs192485848 0.00252
NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705 0.00251
NM_001136193.2(FASTKD2):c.*3502G>A rs563957358 0.00243
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648 0.00243
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
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_017866.6(TMEM70):c.211-6C>T rs113669789 0.00230
NM_005002.5(NDUFA9):c.942A>G (p.Ile314Met) rs139674448 0.00225
NM_001136193.2(FASTKD2):c.*58G>A rs183337182 0.00224
NM_004550.5(NDUFS2):c.-346G>A rs189165754 0.00223
NM_004544.4(NDUFA10):c.*372C>T rs143693330 0.00222
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950 0.00218
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073 0.00215
NM_014402.5(UQCRQ):c.*1204G>A rs116236652 0.00215
NM_004544.4(NDUFA10):c.*1161C>T rs184925264 0.00213
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_001136193.2(FASTKD2):c.*1345G>A rs530276798 0.00211
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala) rs201223057 0.00210
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_001916.5(CYC1):c.873+7G>A rs200281879 0.00202
NM_016360.4(TACO1):c.498T>C (p.His166=) rs17549732 0.00202
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly) rs147111211 0.00202
NM_001370595.2(COA8):c.476+19C>T rs182242924 0.00201
NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys) rs137995316 0.00201
NM_175614.4(NDUFA11):c.-83G>C rs562075121 0.00199
NM_021074.5(NDUFV2):c.-30G>T rs139650842 0.00198
NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser) rs142211558 0.00196
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364 0.00195
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219 0.00194
NM_005002.5(NDUFA9):c.897-115A>G rs185994125 0.00193
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765 0.00187
NM_001136193.2(FASTKD2):c.*1295C>G rs191791478 0.00186
NM_004544.4(NDUFA10):c.*3141C>T rs144864637 0.00185
NM_021074.5(NDUFV2):c.-13A>G rs369562850 0.00182
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_001136193.2(FASTKD2):c.*2431C>G rs146898986 0.00179
NM_004550.5(NDUFS2):c.-218G>A rs563669084 0.00175
NM_016013.4(NDUFAF1):c.-205G>C rs190265352 0.00175
NM_032340.4(UQCC2):c.225C>A (p.Pro75=) rs114881155 0.00173
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_145691.4(ATPAF2):c.35G>A (p.Gly12Glu) rs149036879 0.00167
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_001136193.2(FASTKD2):c.*451C>T rs192433004 0.00163
NM_017866.6(TMEM70):c.*1052G>C rs73335823 0.00163
NM_001136193.2(FASTKD2):c.*3121T>G rs147995587 0.00162
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu) rs143293913 0.00156
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_001171155.2(PET100):c.74A>G (p.Asn25Ser) rs184325854 0.00151
NM_001136193.2(FASTKD2):c.*2331C>T rs568225901 0.00146
NM_004544.4(NDUFA10):c.*1198G>A rs143353868 0.00145
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012 0.00143
NM_005138.3(SCO2):c.-114G>C rs554814235 0.00142
NM_005006.7(NDUFS1):c.*561T>C rs146538309 0.00141
NM_017775.4(TTC19):c.146C>T (p.Pro49Leu) rs537063695 0.00141
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378 0.00138
NM_017866.6(TMEM70):c.534T>C (p.Thr178=) rs139864454 0.00136
NM_002488.4(NDUFA2):c.-50G>A rs143857164 0.00135
NM_004544.4(NDUFA10):c.*1879G>A rs143421241 0.00132
NM_014402.5(UQCRQ):c.*332G>A rs182167836 0.00128
NM_017775.4(TTC19):c.-1C>T rs2302414 0.00128
NM_007103.4(NDUFV1):c.*79C>T rs76839099 0.00124
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418 0.00121
NM_004544.4(NDUFA10):c.*2202C>T rs77614498 0.00120
NM_017775.4(TTC19):c.122A>G (p.Gln41Arg) rs1462593526 0.00120
NM_004544.4(NDUFA10):c.*2495C>T rs78395168 0.00119
NM_017547.4(FOXRED1):c.*159C>T rs570233921 0.00119
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457 0.00118
NM_001136193.2(FASTKD2):c.*1446A>C rs200685209 0.00117
NM_004544.4(NDUFA10):c.*1915G>A rs144590599 0.00117
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_001136193.2(FASTKD2):c.*328T>C rs2241346 0.00115
NM_025152.3(NUBPL):c.256+14T>C rs377077969 0.00113
NM_017866.6(TMEM70):c.*21G>A rs374494665 0.00112
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743 0.00111
NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys) rs147117631 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_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_001079866.2(BCS1L):c.-14G>A rs367721351 0.00103
NM_017547.4(FOXRED1):c.417+10A>G rs180800246 0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_016360.4(TACO1):c.*44G>T rs191442785 0.00102
NM_145691.4(ATPAF2):c.*132C>T rs765325833 0.00102
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) rs147223483 0.00101
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273 0.00100
NM_004544.4(NDUFA10):c.*3095A>G rs576198967 0.00099
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
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_017866.6(TMEM70):c.69G>T (p.Leu23Phe) rs140061938 0.00092
NM_004544.4(NDUFA10):c.*2659A>C rs559550890 0.00091
NM_025152.3(NUBPL):c.*188T>C rs569141248 0.00091
NM_001303.4(COX10):c.93C>A (p.Asp31Glu) rs141481210 0.00090
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_014402.5(UQCRQ):c.90C>T (p.Val30=) rs146307558 0.00083
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401 0.00083
NM_001136193.2(FASTKD2):c.-130G>A rs543042440 0.00081
NM_001303.4(COX10):c.302C>T (p.Pro101Leu) rs145948285 0.00081
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_005138.3(SCO2):c.341G>A (p.Arg114His) rs145100473 0.00076
NM_014402.5(UQCRQ):c.-16C>T rs369119794 0.00076
NM_001377299.1(NDUFS2):c.628-12C>T rs202121443 0.00075
NM_001863.4(COX6B1):c.-133A>G rs577036606 0.00073
NM_004544.4(NDUFA10):c.*3347C>T rs537694779 0.00072
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799 0.00072
NM_001136193.2(FASTKD2):c.*3730C>T rs529411873 0.00071
NM_014165.4(NDUFAF4):c.*690G>A rs181915821 0.00071
NM_016360.4(TACO1):c.-168A>G rs564253011 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_014402.5(UQCRQ):c.*697G>C rs567252592 0.00068
NM_017775.4(TTC19):c.*27G>A rs150843177 0.00067
NM_025152.3(NUBPL):c.*344T>C rs572496732 0.00067
NM_017775.3(TTC19):c.*1886T>C rs189970612 0.00066
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_002496.3(NDUFS8):c.-76C>T rs544094420 0.00065
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_014165.4(NDUFAF4):c.111C>T (p.Asn37=) rs139675421 0.00064
NM_025152.3(NUBPL):c.*1940A>C rs149945695 0.00064
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_004544.4(NDUFA10):c.*1303C>T rs575940810 0.00063
NM_004544.4(NDUFA10):c.*2297T>G rs773090030 0.00063
NM_004589.4(SCO1):c.*81A>G rs140538532 0.00063
NM_016360.4(TACO1):c.-177C>T rs540772284 0.00063
NM_017866.6(TMEM70):c.*1103C>T rs747366040 0.00063
NM_021074.4(NDUFV2):c.-94A>T rs552940397 0.00063
NM_001136193.2(FASTKD2):c.*1578C>T rs955295480 0.00061
NM_017775.3(TTC19):c.-340G>C rs200004394 0.00061
NM_001079866.2(BCS1L):c.-50+458T>G rs188224298 0.00058
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_005006.7(NDUFS1):c.*438C>T rs561980718 0.00057
NM_145691.4(ATPAF2):c.*485G>A rs147889525 0.00056
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_001136193.2(FASTKD2):c.*2107T>G rs538336281 0.00054
NM_001136193.2(FASTKD2):c.*3470C>T rs181028470 0.00054
NM_004544.4(NDUFA10):c.*1482C>G rs557576958 0.00054
NM_152416.4(NDUFAF6):c.715-3C>A rs200620409 0.00054
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819 0.00053
NM_016013.4(NDUFAF1):c.-165C>T rs561102841 0.00053
NM_002495.4(NDUFS4):c.469T>A (p.Ser157Thr) rs149482195 0.00052
NM_005006.7(NDUFS1):c.*151T>C rs533179154 0.00052
NM_017775.4(TTC19):c.*1333A>G rs182682320 0.00052
NM_001136193.2(FASTKD2):c.*4199G>C rs146262081 0.00051
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721 0.00051
NM_014402.5(UQCRQ):c.*102T>C rs141098349 0.00050
NM_199069.2(NDUFAF3):c.*98A>G rs117051791 0.00050
NM_001303.4(COX10):c.909C>T (p.Ala303=) rs370260574 0.00049
NM_001863.5(COX6B1):c.107-16A>G rs187740487 0.00049
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_017775.4(TTC19):c.*1562A>G rs749875042 0.00048
NM_017866.6(TMEM70):c.97C>A (p.Arg33=) rs145329086 0.00048
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185 0.00047
NM_014165.4(NDUFAF4):c.*1368A>G rs563778638 0.00046
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928 0.00045
NM_001377299.1(NDUFS2):c.1116+20A>G rs200063148 0.00044
NM_004544.4(NDUFA10):c.*2149C>T rs570872300 0.00044
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315 0.00044
NM_014402.5(UQCRQ):c.45C>T (p.Ile15=) rs150139635 0.00043
NM_199069.1(NDUFAF3):c.-363C>G rs760652685 0.00043
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
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_001136193.2(FASTKD2):c.*4222A>T rs539338030 0.00041
NM_001169109.2(SCO2):c.-14+505G>A rs375309432 0.00041
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_016013.4(NDUFAF1):c.-352C>T rs532681188 0.00041
NM_017775.4(TTC19):c.*1169G>A rs117255702 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_145691.4(ATPAF2):c.-90C>A rs113286105 0.00040
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) rs143241583 0.00040
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704 0.00039
NM_001863.5(COX6B1):c.243G>A (p.Thr81=) rs141958404 0.00039
NM_007103.4(NDUFV1):c.155+12C>T rs199963966 0.00039
NM_017775.4(TTC19):c.787G>T (p.Ala263Ser) rs141892030 0.00039
NM_001303.4(COX10):c.*859G>T rs974629254 0.00038
NM_001303.4(COX10):c.535T>C (p.Leu179=) rs143593847 0.00038
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_017866.6(TMEM70):c.*942G>T rs531849936 0.00038
NM_032901.4(COX14):c.-8-14A>G rs200753288 0.00037
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) rs202104160 0.00037
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_004544.4(NDUFA10):c.*1992C>T rs373034894 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138 0.00036
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_005138.3(SCO2):c.576C>T (p.Thr192=) rs201909075 0.00035
NM_014402.5(UQCRQ):c.*1177G>A rs868237609 0.00035
NM_014402.5(UQCRQ):c.*971C>A rs879668666 0.00035
NM_001136193.2(FASTKD2):c.*2630G>A rs547470657 0.00034
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.*1053G>A rs546991443 0.00034
NM_025152.3(NUBPL):c.*357C>G rs576520205 0.00034
NM_198076.6(COX20):c.340G>A (p.Gly114Ser) rs141476240 0.00034
NM_001136193.2(FASTKD2):c.*1883T>G rs138267671 0.00033
NM_004551.3(NDUFS3):c.*32G>A rs189495301 0.00033
NM_016013.4(NDUFAF1):c.512C>T (p.Ala171Val) rs140515254 0.00033
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281 0.00033
NM_145691.4(ATPAF2):c.-85C>T rs533220549 0.00033
NM_175614.5(NDUFA11):c.*59C>G rs191571307 0.00033
NM_001303.4(COX10):c.-29C>A rs373184679 0.00032
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) rs147487151 0.00032
NM_004544.3(NDUFA10):c.-87A>C rs886055827 0.00031
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) rs145602077 0.00031
NM_016013.4(NDUFAF1):c.-293C>T rs760649120 0.00031
NM_032340.4(UQCC2):c.112G>A (p.Ala38Thr) rs200180350 0.00031
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001370595.2(COA8):c.101G>T (p.Arg34Leu) rs534048581 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_001136193.2(FASTKD2):c.*3559G>A rs529315003 0.00029
NM_001136193.2(FASTKD2):c.*3592C>T rs564472346 0.00029
NM_001136193.2(FASTKD2):c.1389C>T (p.Tyr463=) rs200425724 0.00029
NM_016360.4(TACO1):c.*230G>A rs886053235 0.00029
NM_145691.4(ATPAF2):c.-107G>A rs371822840 0.00029
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960 0.00029
NM_199069.2(NDUFAF3):c.271-10C>G rs200789117 0.00029
NM_004553.6(NDUFS6):c.257C>T (p.Ala86Val) rs192286856 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_145691.4(ATPAF2):c.*138G>A rs760080344 0.00028
NM_004544.4(NDUFA10):c.*679A>G rs374065697 0.00027
NM_016360.4(TACO1):c.-163A>G rs752592967 0.00027
NM_017547.4(FOXRED1):c.*374T>G rs576196293 0.00027
NM_017775.3(TTC19):c.-73G>A rs149555498 0.00026
NM_001303.4(COX10):c.781G>T (p.Ala261Ser) rs138560674 0.00025
NM_017775.4(TTC19):c.*746C>G rs143866104 0.00025
NM_017866.6(TMEM70):c.*413T>C rs759034954 0.00025
NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter) rs387907139 0.00025
NM_004074.3(COX8A):c.114+17G>A rs373910843 0.00024
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_005006.7(NDUFS1):c.826C>T (p.Arg276Cys) rs142941808 0.00024
NM_025152.3(NUBPL):c.*850C>T rs370650416 0.00024
NM_145691.4(ATPAF2):c.*526C>T rs780010191 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_004074.3(COX8A):c.174C>A (p.Ile58=) rs11550240 0.00023
NM_004074.3(COX8A):c.93G>T (p.Pro31=) rs528113495 0.00023
NM_004544.4(NDUFA10):c.*183C>T rs112660586 0.00023
NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys) rs368446373 0.00023
NM_005006.7(NDUFS1):c.-64T>C rs145023130 0.00023
NM_017775.4(TTC19):c.*834C>T rs528061494 0.00023
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_004589.4(SCO1):c.*326C>T rs959024756 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_017775.4(TTC19):c.313-4T>C rs374666326 0.00022
NM_001136193.2(FASTKD2):c.*2374C>T rs745387138 0.00021
NM_001136193.2(FASTKD2):c.*257G>A rs569494509 0.00021
NM_001303.4(COX10):c.192G>A (p.Leu64=) rs569444237 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
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_017866.6(TMEM70):c.*217A>C rs140080854 0.00021
NM_017866.6(TMEM70):c.317-16T>C rs113010559 0.00021
NM_017866.6(TMEM70):c.730A>G (p.Ile244Val) rs151104827 0.00021
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser) rs141020107 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_001136193.2(FASTKD2):c.*4326C>T rs950430575 0.00019
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=) rs145578059 0.00019
NM_004544.4(NDUFA10):c.749+11C>T rs200760509 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_017866.6(TMEM70):c.*425T>A rs149063225 0.00019
NM_021074.4(NDUFV2):c.-83C>T rs540830035 0.00019
NM_032340.4(UQCC2):c.75G>C (p.Arg25=) rs200426793 0.00019
NM_001377299.1(NDUFS2):c.1354+10C>A rs201275792 0.00018
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) rs148726142 0.00018
NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His) rs376456360 0.00018
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_014402.5(UQCRQ):c.22C>A (p.Leu8Met) rs140851547 0.00017
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_199069.2(NDUFAF3):c.*169G>C rs886058669 0.00017
NM_001040431.3(COA3):c.202G>T (p.Val68Leu) rs200420190 0.00016
NM_001136193.2(FASTKD2):c.*2085G>C rs149228072 0.00016
NM_001136193.2(FASTKD2):c.*4201C>T rs531052965 0.00016
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.*823C>T rs886052609 0.00016
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004589.4(SCO1):c.*349C>G rs151279533 0.00016
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426 0.00016
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411 0.00016
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val) rs558262843 0.00016
NM_014402.5(UQCRQ):c.*1026C>G rs749663767 0.00016
NM_014402.5(UQCRQ):c.*18C>T rs768723651 0.00016
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu) rs145888229 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_145691.4(ATPAF2):c.*250C>T rs141638018 0.00016
NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) rs373432793 0.00015
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_004589.4(SCO1):c.702C>T (p.Val234=) rs199687831 0.00015
NM_004589.4(SCO1):c.753C>T (p.Asp251=) rs151112594 0.00015
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) rs146540015 0.00015
NM_017775.3(TTC19):c.-178C>T rs753100200 0.00015
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001136193.2(FASTKD2):c.*2298C>T rs746695830 0.00014
NM_001136193.2(FASTKD2):c.*585G>C rs886055508 0.00014
NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val) rs140778319 0.00014
NM_001370595.2(COA8):c.85G>A (p.Glu29Lys) rs535382401 0.00014
NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser) rs111638609 0.00014
NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His) rs778618710 0.00014
NM_004544.4(NDUFA10):c.*389C>T rs539829771 0.00014
NM_004553.6(NDUFS6):c.*27A>G rs370587409 0.00014
NM_005005.3(NDUFB9):c.431C>T (p.Thr144Met) rs769883777 0.00014
NM_005006.7(NDUFS1):c.*866A>C rs749790811 0.00014
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_014222.3(NDUFA8):c.164G>A (p.Arg55Gln) rs200528860 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_016360.4(TACO1):c.219G>A (p.Lys73=) rs150607307 0.00014
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) rs200199681 0.00014
NM_199069.2(NDUFAF3):c.109G>A (p.Ala37Thr) rs527954570 0.00014
NM_001136193.2(FASTKD2):c.*4142T>C rs755060762 0.00013
NM_001303.4(COX10):c.*591_*592del rs886052606 0.00013
NM_001303.4(COX10):c.*894G>T rs573080780 0.00013
NM_001370595.2(COA8):c.123+12C>T rs767933232 0.00013
NM_004544.4(NDUFA10):c.*1057T>G rs541016943 0.00013
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_014402.5(UQCRQ):c.*756C>T rs757790355 0.00013
NM_016360.4(TACO1):c.873C>T (p.His291=) rs370007551 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_017866.6(TMEM70):c.-15C>G rs371606877 0.00013
NM_021074.5(NDUFV2):c.428G>A (p.Arg143Gln) rs148158107 0.00013
NM_198076.6(COX20):c.205G>A (p.Val69Met) rs185166083 0.00013
NM_001040431.3(COA3):c.215A>G (p.Tyr72Cys) rs139877390 0.00012
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
NM_001136193.2(FASTKD2):c.*1579G>A rs531381311 0.00012
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
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_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_014402.5(UQCRQ):c.*342C>T rs766622698 0.00012
NM_017775.4(TTC19):c.713T>C (p.Met238Thr) rs140719848 0.00012
NM_017866.6(TMEM70):c.*239A>G rs147578337 0.00012
NM_017866.6(TMEM70):c.434A>G (p.Tyr145Cys) rs111248269 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_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) rs148302981 0.00011
NM_001136193.2(FASTKD2):c.*2428G>A rs775360254 0.00011
NM_001136193.2(FASTKD2):c.*3112A>G rs535264688 0.00011
NM_001136193.2(FASTKD2):c.*3380G>A rs372815075 0.00011
NM_001303.4(COX10):c.*13G>A rs371047487 0.00011
NM_001377299.1(NDUFS2):c.393+12G>A rs180970484 0.00011
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr) rs150667550 0.00011
NM_001953.5(TYMP):c.*10G>A rs369012029 0.00011
NM_001953.5(TYMP):c.*3C>T rs372620403 0.00011
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_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350 0.00011
NM_014402.5(UQCRQ):c.*249A>G rs572786790 0.00011
NM_016589.4(TIMMDC1):c.597-1340A>G rs781525096 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_017866.6(TMEM70):c.128G>A (p.Ser43Asn) rs199815125 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) rs201860210 0.00011
NM_025152.3(NUBPL):c.*1048G>A rs886050455 0.00011
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218 0.00011
NM_001136193.2(FASTKD2):c.*1159G>A rs575685523 0.00010
NM_001303.4(COX10):c.48C>T (p.Cys16=) rs748889500 0.00010
NM_001370595.2(COA8):c.97G>A (p.Glu33Lys) rs549170173 0.00010
NM_001377299.1(NDUFS2):c.515-3C>A rs149789018 0.00010
NM_002490.6(NDUFA6):c.387A>C (p.Ter129Cys) rs552658891 0.00010
NM_005138.3(SCO2):c.162C>T (p.Gly54=) rs139545104 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_014402.5(UQCRQ):c.*364C>T rs186810817 0.00010
NM_014929.3(FASTKD2):c.-178T>C rs539716623 0.00010
NM_017866.6(TMEM70):c.*456T>G rs775732275 0.00010
NM_017866.6(TMEM70):c.341C>T (p.Thr114Met) rs760669698 0.00010
NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr) rs368477064 0.00010
NM_001136193.2(FASTKD2):c.*3990G>C rs547229926 0.00009
NM_001377299.1(NDUFS2):c.1213-20C>T rs139327184 0.00009
NM_001377299.1(NDUFS2):c.39C>A (p.Val13=) rs139722814 0.00009
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_004589.4(SCO1):c.94C>G (p.Pro32Ala) rs762163897 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_005138.3(SCO2):c.173G>A (p.Arg58Gln) rs375383752 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_017775.4(TTC19):c.*437del rs886052629 0.00009
NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys) rs199655842 0.00009
NM_017866.6(TMEM70):c.764G>A (p.Arg255Gln) rs149823637 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 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_175614.5(NDUFA11):c.313+6T>C rs565009355 0.00009
NM_199069.1(NDUFAF3):c.-249C>T rs886058665 0.00009
NM_001079866.2(BCS1L):c.499G>A (p.Val167Met) rs200882008 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001136193.2(FASTKD2):c.*1700A>G rs974415646 0.00008
NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His) rs150994958 0.00008
NM_001303.4(COX10):c.307T>G (p.Ser103Ala) rs200480915 0.00008
NM_001303.4(COX10):c.625T>C (p.Phe209Leu) rs767032314 0.00008
NM_001370595.2(COA8):c.197G>A (p.Arg66Gln) rs751876490 0.00008
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_004544.4(NDUFA10):c.*1214C>T rs546735567 0.00008
NM_004544.4(NDUFA10):c.*2900G>A rs752124492 0.00008
NM_004551.2(NDUFS3):c.-30C>T rs375483884 0.00008
NM_004589.4(SCO1):c.411G>A (p.Gly137=) rs371690301 0.00008
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 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_198076.6(COX20):c.319G>A (p.Asp107Asn) rs373502901 0.00008
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln) rs755462817 0.00007
NM_001193375.3(NDUFA11):c.494C>T (p.Ala165Val) rs765004425 0.00007
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_004553.6(NDUFS6):c.229G>A (p.Val77Met) rs187737486 0.00007
NM_004589.4(SCO1):c.689C>T (p.Thr230Met) rs141066877 0.00007
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_005006.7(NDUFS1):c.325T>A (p.Ser109Thr) rs769616417 0.00007
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) rs147624681 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_017775.3(TTC19):c.-190C>T rs199843558 0.00007
NM_017866.6(TMEM70):c.*5A>G rs201064449 0.00007
NM_017866.6(TMEM70):c.654A>G (p.Ser218=) rs540563357 0.00007
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn) rs573006534 0.00007
NM_024120.5(NDUFAF5):c.479+5G>A rs367847398 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_032901.4(COX14):c.74A>G (p.Tyr25Cys) rs143095605 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs) rs746835381 0.00007
NM_199069.2(NDUFAF3):c.78-15C>G rs587781096 0.00007
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001136193.2(FASTKD2):c.*2316G>A rs576889447 0.00006
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu) rs150016888 0.00006
NM_001171155.2(PET100):c.138+3A>T rs756326147 0.00006
NM_001303.4(COX10):c.-24G>A rs201257809 0.00006
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys) rs368724576 0.00006
NM_001303.4(COX10):c.260C>T (p.Thr87Ile) rs144000161 0.00006
NM_001370595.2(COA8):c.123+6C>T rs2274266 0.00006
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) rs754241926 0.00006
NM_001377299.1(NDUFS2):c.95+9G>C rs377100925 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_004553.6(NDUFS6):c.336C>T (p.Cys112=) rs149406977 0.00006
NM_004553.6(NDUFS6):c.9G>A (p.Ala3=) rs765884582 0.00006
NM_004589.3(SCO1):c.-49C>T rs778522503 0.00006
NM_004589.4(SCO1):c.*594A>G rs183020275 0.00006
NM_004589.4(SCO1):c.15C>T (p.Val5=) rs780334801 0.00006
NM_005002.5(NDUFA9):c.655+5G>A rs768333416 0.00006
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) rs769276632 0.00006
NM_005138.3(SCO2):c.-83A>G rs886057632 0.00006
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 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_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp) rs778206888 0.00006
NM_016360.4(TACO1):c.327A>G (p.Leu109=) rs149794197 0.00006
NM_016360.4(TACO1):c.448A>G (p.Ile150Val) rs551788479 0.00006
NM_016360.4(TACO1):c.819G>A (p.Leu273=) rs776813717 0.00006
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His) rs142096113 0.00006
NM_017775.3(TTC19):c.-83C>T rs368411974 0.00006
NM_017775.4(TTC19):c.304C>G (p.Arg102Gly) rs961191529 0.00006
NM_017775.4(TTC19):c.364G>A (p.Ala122Thr) rs377441281 0.00006
NM_017866.6(TMEM70):c.*693C>T rs574729956 0.00006
NM_017866.6(TMEM70):c.455C>T (p.Thr152Met) rs200820631 0.00006
NM_017866.6(TMEM70):c.462C>A (p.Ile154=) rs143954787 0.00006
NM_017866.6(TMEM70):c.533C>G (p.Thr178Ser) rs552453782 0.00006
NM_017866.6(TMEM70):c.70T>C (p.Cys24Arg) rs368936744 0.00006
NM_017866.6(TMEM70):c.738T>C (p.Tyr246=) rs567090474 0.00006
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_024120.5(NDUFAF5):c.480-3T>G rs749288299 0.00006
NM_024120.5(NDUFAF5):c.519+4A>G rs373951216 0.00006
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_032901.4(COX14):c.150A>G (p.Glu50=) rs372336241 0.00006
NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu) rs1052960618 0.00006
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_175614.4(NDUFA11):c.-282T>C rs779432735 0.00006
NM_175614.5(NDUFA11):c.*63G>A rs749166288 0.00006
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met) rs774174896 0.00006
NM_198076.6(COX20):c.197T>G (p.Phe66Cys) rs147700538 0.00006
NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln) rs544159811 0.00005
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001079866.2(BCS1L):c.585G>C (p.Gln195His) rs771252024 0.00005
NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu) rs141618813 0.00005
NM_001136193.2(FASTKD2):c.*159C>A rs549535843 0.00005
NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=) rs369427864 0.00005
NM_001136193.2(FASTKD2):c.945G>A (p.Lys315=) rs768043175 0.00005
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359 0.00005
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730 0.00005
NM_001377299.1(NDUFS2):c.1355-7C>T rs749095282 0.00005
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr) rs140731056 0.00005
NM_001863.5(COX6B1):c.-11-8G>A rs200312775 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_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 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_004553.6(NDUFS6):c.117C>G (p.Val39=) rs556405335 0.00005
NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) rs145764824 0.00005
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922 0.00005
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516 0.00005
NM_014402.5(UQCRQ):c.*1239A>G rs999444674 0.00005
NM_016013.4(NDUFAF1):c.457A>G (p.Lys153Glu) rs571701028 0.00005
NM_016360.4(TACO1):c.*29C>T rs376575683 0.00005
NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter) rs970547270 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_017775.4(TTC19):c.*301G>A rs116946711 0.00005
NM_017775.4(TTC19):c.1063A>G (p.Ile355Val) rs372717953 0.00005
NM_017866.6(TMEM70):c.589C>A (p.Gln197Lys) rs775211044 0.00005
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) rs745871040 0.00005
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) rs143178200 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_145691.4(ATPAF2):c.250G>A (p.Glu84Lys) rs373144265 0.00005
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_181705.4(LYRM7):c.264C>A (p.Asp88Glu) rs199579347 0.00005
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625 0.00004
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00004
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=) rs374582626 0.00004
NM_001136193.2(FASTKD2):c.*3231G>A rs955655976 0.00004
NM_001136193.2(FASTKD2):c.*3775C>T rs886055524 0.00004
NM_001136193.2(FASTKD2):c.-181G>A rs866957815 0.00004
NM_001136193.2(FASTKD2):c.-37C>T rs765204520 0.00004
NM_001136193.2(FASTKD2):c.1295G>A (p.Arg432Gln) rs372022584 0.00004
NM_001303.4(COX10):c.*535C>A rs886052604 0.00004
NM_001303.4(COX10):c.1070C>T (p.Ala357Val) rs148783821 0.00004
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) rs141549844 0.00004
NM_001303.4(COX10):c.543G>A (p.Pro181=) rs371273328 0.00004
NM_001370595.2(COA8):c.67G>T (p.Gly23Cys) rs752679434 0.00004
NM_001377299.1(NDUFS2):c.95+14C>T rs751472475 0.00004
NM_001377299.1(NDUFS2):c.998G>A (p.Arg333Gln) rs150981760 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_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638 0.00004
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) rs782358655 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 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_004553.6(NDUFS6):c.2T>G (p.Met1Arg) rs776323741 0.00004
NM_004589.4(SCO1):c.*61A>C rs886052594 0.00004
NM_004589.4(SCO1):c.*731A>G rs1019914508 0.00004
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481 0.00004
NM_004589.4(SCO1):c.33T>C (p.Val11=) rs780127886 0.00004
NM_004589.4(SCO1):c.430A>G (p.Thr144Ala) rs368098002 0.00004
NM_004589.4(SCO1):c.579G>T (p.Leu193=) rs376145746 0.00004
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915 0.00004
NM_005138.3(SCO2):c.723C>T (p.Tyr241=) rs375345044 0.00004
NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met) rs774750411 0.00004
NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln) rs141502688 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520 0.00004
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu) rs779150755 0.00004
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys) rs138583785 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_014222.3(NDUFA8):c.95A>G (p.Tyr32Cys) rs143108192 0.00004
NM_014402.5(UQCRQ):c.*552C>T rs915287250 0.00004
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile) rs201452351 0.00004
NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys) rs387906958 0.00004
NM_016360.4(TACO1):c.297T>G (p.Pro99=) rs778960378 0.00004
NM_016360.4(TACO1):c.66C>T (p.Pro22=) rs1008008624 0.00004
NM_016468.7(COX16):c.244C>T (p.Arg82Ter) rs781059799 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.1261G>A (p.Val421Met) rs199542988 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_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829 0.00004
NM_017775.4(TTC19):c.*1318A>C rs886052638 0.00004
NM_017775.4(TTC19):c.*1321A>C rs886052640 0.00004
NM_017775.4(TTC19):c.*219C>T rs986681161 0.00004
NM_017775.4(TTC19):c.*220G>A rs1024284604 0.00004
NM_017775.4(TTC19):c.371G>A (p.Arg124His) rs139693104 0.00004
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter) rs764720544 0.00004
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter) rs747166010 0.00004
NM_017775.4(TTC19):c.997C>T (p.Arg333Ter) rs192522753 0.00004
NM_017866.6(TMEM70):c.*731C>T rs746055959 0.00004
NM_017866.6(TMEM70):c.*755C>T rs928499533 0.00004
NM_017866.6(TMEM70):c.214C>T (p.Pro72Ser) rs143292919 0.00004
NM_017866.6(TMEM70):c.410C>T (p.Pro137Leu) rs201367229 0.00004
NM_017866.6(TMEM70):c.42G>A (p.Leu14=) rs747372086 0.00004
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val) rs181963507 0.00004
NM_021074.5(NDUFV2):c.427C>T (p.Arg143Ter) rs768703151 0.00004
NM_021074.5(NDUFV2):c.553A>G (p.Met185Val) rs377456305 0.00004
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) rs768309175 0.00004
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) rs565395435 0.00004
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met) rs371666279 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_078470.6(COX15):c.107G>A (p.Arg36His) rs763754710 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 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_198076.6(COX20):c.41A>G (p.Lys14Arg) rs1057521790 0.00004
NM_199069.2(NDUFAF3):c.*243G>A rs941353519 0.00004
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722 0.00004
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe) rs373060774 0.00004
NM_001079866.2(BCS1L):c.206G>A (p.Arg69His) rs538427220 0.00003
NM_001136193.2(FASTKD2):c.*1158C>T rs947729535 0.00003
NM_001136193.2(FASTKD2):c.*1716A>G rs968012351 0.00003
NM_001136193.2(FASTKD2):c.*3238G>A rs886055521 0.00003
NM_001136193.2(FASTKD2):c.*3318G>C rs753130942 0.00003
NM_001136193.2(FASTKD2):c.*3542C>A rs1028232504 0.00003
NM_001136193.2(FASTKD2):c.*799C>A rs1043843484 0.00003
NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu) rs771134176 0.00003
NM_001136193.2(FASTKD2):c.527C>T (p.Ala176Val) rs367909050 0.00003
NM_001303.4(COX10):c.*152T>A rs886052602 0.00003
NM_001303.4(COX10):c.*628C>T rs886052607 0.00003
NM_001303.4(COX10):c.1185C>T (p.Leu395=) rs772255579 0.00003
NM_001303.4(COX10):c.44-3T>C rs759643676 0.00003
NM_001370595.2(COA8):c.129A>C (p.Ser43=) rs143925033 0.00003
NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=) rs755626092 0.00003
NM_001377299.1(NDUFS2):c.777G>A (p.Glu259=) rs763804955 0.00003
NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile) rs376973042 0.00003
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_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 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_004551.3(NDUFS3):c.418C>T (p.Arg140Trp) rs142248674 0.00003
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270 0.00003
NM_004553.6(NDUFS6):c.102G>A (p.Pro34=) rs763463147 0.00003
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=) rs886060511 0.00003
NM_004589.4(SCO1):c.*80A>G rs1338702106 0.00003
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) rs746265672 0.00003
NM_005002.5(NDUFA9):c.223C>T (p.Arg75Cys) rs767462328 0.00003
NM_005006.7(NDUFS1):c.-61G>C rs367762150 0.00003
NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala) rs769167029 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 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_014402.5(UQCRQ):c.*1058A>G rs886059918 0.00003
NM_014402.5(UQCRQ):c.*803A>G rs1359401327 0.00003
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) rs370482859 0.00003
NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr) rs368184254 0.00003
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712 0.00003
NM_017775.4(TTC19):c.421T>G (p.Leu141Val) rs755530528 0.00003
NM_017775.4(TTC19):c.581+4A>C rs367636730 0.00003
NM_017775.4(TTC19):c.677-6C>T rs769438082 0.00003
NM_017775.4(TTC19):c.7C>T (p.Arg3Trp) rs756830714 0.00003
NM_017775.4(TTC19):c.998G>A (p.Arg333Gln) rs1483019285 0.00003
NM_017866.6(TMEM70):c.*670T>C rs886063103 0.00003
NM_017866.6(TMEM70):c.-13C>A rs375946143 0.00003
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003
NM_017866.6(TMEM70):c.124A>G (p.Ser42Gly) rs373992649 0.00003
NM_017866.6(TMEM70):c.140G>A (p.Gly47Glu) rs761956518 0.00003
NM_017866.6(TMEM70):c.211-11T>C rs111260030 0.00003
NM_017866.6(TMEM70):c.211-4A>G rs375362169 0.00003
NM_017866.6(TMEM70):c.456G>A (p.Thr152=) rs534498599 0.00003
NM_017866.6(TMEM70):c.558T>C (p.Ala186=) rs773685632 0.00003
NM_017866.6(TMEM70):c.769A>T (p.Lys257Ter) rs200138286 0.00003
NM_017866.6(TMEM70):c.84G>C (p.Ala28=) rs780673904 0.00003
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met) rs141758325 0.00003
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) rs767277509 0.00003
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter) rs755097467 0.00003
NM_024120.5(NDUFAF5):c.970G>A (p.Ala324Thr) rs142611230 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_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045 0.00003
NM_198076.6(COX20):c.222-3A>C rs200065889 0.00003
NM_198076.6(COX20):c.269T>C (p.Ile90Thr) rs150172035 0.00003
NM_198076.6(COX20):c.301T>C (p.Tyr101His) rs776767802 0.00003
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107 0.00003
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln) rs775817146 0.00002
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg) rs749184815 0.00002
NM_001135998.3(NDUFB11):c.427G>A (p.Asp143Asn) rs374083393 0.00002
NM_001136193.2(FASTKD2):c.*1464C>T rs1006854280 0.00002
NM_001136193.2(FASTKD2):c.*2021G>A rs766799925 0.00002
NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro) rs202102918 0.00002
NM_001136193.2(FASTKD2):c.684G>C (p.Gln228His) rs182441753 0.00002
NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr) rs368819721 0.00002
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.695+11G>A rs201826759 0.00002
NM_001303.4(COX10):c.736C>T (p.Pro246Ser) rs777697759 0.00002
NM_001370595.2(COA8):c.433G>A (p.Glu145Lys) rs562472810 0.00002
NM_001370595.2(COA8):c.81T>C (p.Ala27=) rs1268847789 0.00002
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr) rs201897431 0.00002
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=) rs140324736 0.00002
NM_001863.5(COX6B1):c.59G>A (p.Arg20His) rs121909602 0.00002
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) rs771700483 0.00002
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=) rs200255683 0.00002
NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) rs1023075742 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_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) rs146766138 0.00002
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 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_004553.6(NDUFS6):c.165G>T (p.Arg55=) rs147278612 0.00002
NM_004553.6(NDUFS6):c.83T>A (p.Phe28Tyr) rs905716566 0.00002
NM_004589.4(SCO1):c.203G>A (p.Ser68Asn) rs767557634 0.00002
NM_004589.4(SCO1):c.271G>A (p.Gly91Arg) rs753607085 0.00002
NM_004589.4(SCO1):c.2T>C (p.Met1Thr) rs371521614 0.00002
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737 0.00002
NM_004589.4(SCO1):c.744C>T (p.Gly248=) rs768270136 0.00002
NM_004589.4(SCO1):c.771+3G>C rs376237477 0.00002
NM_005002.5(NDUFA9):c.728T>C (p.Val243Ala) rs202214518 0.00002
NM_005006.7(NDUFS1):c.1285G>A (p.Val429Met) rs200397416 0.00002
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502 0.00002
NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val) rs764520533 0.00002
NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln) rs767457281 0.00002
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) rs1275864234 0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val) rs377034463 0.00002
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 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_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_007103.4(NDUFV1):c.312G>T (p.Lys104Asn) rs768399541 0.00002
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 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_016360.4(TACO1):c.421C>T (p.Arg141Ter) rs765093638 0.00002
NM_016360.4(TACO1):c.685G>A (p.Val229Ile) rs768292534 0.00002
NM_016589.4(TIMMDC1):c.598A>G (p.Thr200Ala) rs200592275 0.00002
NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu) rs779953541 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_017775.4(TTC19):c.*1320A>C rs886052639 0.00002
NM_017775.4(TTC19):c.*1496A>G rs776834358 0.00002
NM_017775.4(TTC19):c.994+3A>T rs189614332 0.00002
NM_017866.6(TMEM70):c.*29G>A rs780620441 0.00002
NM_017866.6(TMEM70):c.*300A>G rs886063102 0.00002
NM_017866.6(TMEM70):c.*963A>G rs886063104 0.00002
NM_017866.6(TMEM70):c.110C>G (p.Ser37Cys) rs762522077 0.00002
NM_017866.6(TMEM70):c.210+11C>G rs928358741 0.00002
NM_017866.6(TMEM70):c.251C>T (p.Thr84Met) rs756840242 0.00002
NM_017866.6(TMEM70):c.304C>T (p.Arg102Ter) rs774638624 0.00002
NM_017866.6(TMEM70):c.428T>G (p.Ile143Arg) rs780111064 0.00002
NM_017866.6(TMEM70):c.557C>T (p.Ala186Val) rs200311538 0.00002
NM_017866.6(TMEM70):c.613G>T (p.Ala205Ser) rs146178894 0.00002
NM_017866.6(TMEM70):c.6G>C (p.Leu2=) rs887707177 0.00002
NM_017866.6(TMEM70):c.770A>C (p.Lys257Thr) rs372716606 0.00002
NM_017866.6(TMEM70):c.780A>G (p.Lys260=) rs769667709 0.00002
NM_018838.5(NDUFA12):c.69T>G (p.Tyr23Ter) rs774252307 0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_024407.5(NDUFS7):c.180C>T (p.Gly60=) rs762680917 0.00002
NM_025152.3(NUBPL):c.422+8T>C rs868061310 0.00002
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) rs554414788 0.00002
NM_145691.4(ATPAF2):c.713G>A (p.Arg238His) rs770015610 0.00002
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_152416.4(NDUFAF6):c.743G>A (p.Arg248Gln) rs569186576 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_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00002
NM_198076.6(COX20):c.91C>T (p.Arg31Trp) rs373824502 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_199069.2(NDUFAF3):c.74C>T (p.Pro25Leu) rs368575094 0.00002
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574 0.00001
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His) rs754414354 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608 0.00001
NM_001079866.2(BCS1L):c.321-12G>A rs776363896 0.00001
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) rs1197613485 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001079866.2(BCS1L):c.985A>G (p.Met329Val) rs779805975 0.00001
NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) rs1318084629 0.00001
NM_001135998.3(NDUFB11):c.260T>C (p.Met87Thr) rs1556760684 0.00001
NM_001136193.2(FASTKD2):c.*1010T>C rs886055510 0.00001
NM_001136193.2(FASTKD2):c.*1036C>T rs886055511 0.00001
NM_001136193.2(FASTKD2):c.*1621A>G rs548336967 0.00001
NM_001136193.2(FASTKD2):c.*2141G>T rs572558874 0.00001
NM_001136193.2(FASTKD2):c.*2994A>G rs1229454153 0.00001
NM_001136193.2(FASTKD2):c.*3135T>C rs979062090 0.00001
NM_001136193.2(FASTKD2):c.*3297C>G rs1219321533 0.00001
NM_001136193.2(FASTKD2):c.*3472C>T rs886055522 0.00001
NM_001136193.2(FASTKD2):c.*4237A>G rs80327159 0.00001
NM_001136193.2(FASTKD2):c.*4360A>G rs886055526 0.00001
NM_001136193.2(FASTKD2):c.1034G>A (p.Ser345Asn) rs559922267 0.00001
NM_001136193.2(FASTKD2):c.1427+12T>G rs766699825 0.00001
NM_001136193.2(FASTKD2):c.1428-13C>G rs761492608 0.00001
NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter) rs755068980 0.00001
NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr) rs1204974208 0.00001
NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=) rs374830420 0.00001
NM_001136193.2(FASTKD2):c.485A>G (p.Glu162Gly) rs764238281 0.00001
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) rs536180346 0.00001
NM_001136193.2(FASTKD2):c.999C>T (p.Ala333=) rs1191297892 0.00001
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) rs587779779 0.00001
NM_001171155.2(PET100):c.1A>G (p.Met1Val) rs977392512 0.00001
NM_001171155.2(PET100):c.200G>A (p.Arg67His) rs556380451 0.00001
NM_001171155.2(PET100):c.3G>C (p.Met1Ile) rs587777839 0.00001
NM_001303.4(COX10):c.*1002C>T rs1326135885 0.00001
NM_001303.4(COX10):c.*144T>C rs1906742963 0.00001
NM_001303.4(COX10):c.*485G>A rs931361027 0.00001
NM_001303.4(COX10):c.*564dup rs886052605 0.00001
NM_001303.4(COX10):c.*653G>A rs537449689 0.00001
NM_001303.4(COX10):c.*739A>G rs886052608 0.00001
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) rs142336139 0.00001
NM_001303.4(COX10):c.34C>T (p.Leu12Phe) rs748637459 0.00001
NM_001303.4(COX10):c.561C>T (p.Pro187=) rs371712806 0.00001
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) rs104894556 0.00001
NM_001303.4(COX10):c.679G>A (p.Val227Ile) rs988356756 0.00001
NM_001303.4(COX10):c.870G>A (p.Val290=) rs1189180230 0.00001
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169 0.00001
NM_001370595.2(COA8):c.172C>A (p.Pro58Thr) rs774599759 0.00001
NM_001370595.2(COA8):c.314T>C (p.Phe105Ser) rs587777786 0.00001
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=) rs886045464 0.00001
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro) rs121434429 0.00001
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) rs774162709 0.00001
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=) rs569128565 0.00001
NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu) rs867410737 0.00001
NM_001863.5(COX6B1):c.157G>A (p.Val53Met) rs201223537 0.00001
NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile) rs377025450 0.00001
NM_002488.4(NDUFA2):c.-145T>A rs886060017 0.00001
NM_002488.5(NDUFA2):c.208+5G>A rs1168752295 0.00001
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752 0.00001
NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs) rs766516611 0.00001
NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly) rs1425486695 0.00001
NM_002495.4(NDUFS4):c.99-1G>A rs376281345 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.187G>C (p.Glu63Gln) rs397514618 0.00001
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679 0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134 0.00001
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His) rs111033588 0.00001
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739 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_003172.4(SURF1):c.491C>T (p.Thr164Ile) rs782214884 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) rs1187982748 0.00001
NM_003172.4(SURF1):c.751+5G>A rs781934508 0.00001
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657 0.00001
NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys) rs587776960 0.00001
NM_004074.3(COX8A):c.171G>T (p.Trp57Cys) rs146388741 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.1A>G (p.Met1Val) rs387906872 0.00001
NM_004544.4(NDUFA10):c.460+5A>G rs1158773739 0.00001
NM_004544.4(NDUFA10):c.590A>G (p.Asp197Gly) rs748683797 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_004551.2(NDUFS3):c.-41T>C rs750965789 0.00001
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) rs201457989 0.00001
NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) rs138867882 0.00001
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) rs372417584 0.00001
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) rs780005953 0.00001
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839 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_004553.6(NDUFS6):c.306C>T (p.Asn102=) rs773991515 0.00001
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter) rs769666581 0.00001
NM_004553.6(NDUFS6):c.353A>G (p.Gln118Arg) rs748728259 0.00001
NM_004589.4(SCO1):c.*127A>G rs779082082 0.00001
NM_004589.4(SCO1):c.*526T>C rs2074615394 0.00001
NM_004589.4(SCO1):c.242C>G (p.Pro81Arg) rs1224695466 0.00001
NM_004589.4(SCO1):c.29G>T (p.Arg10Leu) rs770075115 0.00001
NM_004589.4(SCO1):c.394G>A (p.Gly132Ser) rs587777220 0.00001
NM_004589.4(SCO1):c.445C>T (p.Arg149Cys) rs762548598 0.00001
NM_004589.4(SCO1):c.673G>A (p.Val225Ile) rs886052595 0.00001
NM_004589.4(SCO1):c.724A>C (p.Arg242=) rs761217696 0.00001
NM_004589.4(SCO1):c.881T>A (p.Met294Lys) rs775176412 0.00001
NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln) rs764064779 0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) rs3210083 0.00001
NM_005004.4(NDUFB8):c.29G>T (p.Gly10Val) rs747478517 0.00001
NM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro) rs776388520 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.1222C>T (p.Arg408Cys) rs149271416 0.00001
NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His) rs151279101 0.00001
NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly) rs1127567 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile) rs777102927 0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) rs1434275816 0.00001
NM_005006.7(NDUFS1):c.1554-1G>A rs1056433452 0.00001
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser) rs762228459 0.00001
NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter) rs372691318 0.00001
NM_005006.7(NDUFS1):c.2092+9T>C rs1173129542 0.00001
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr) rs765677840 0.00001
NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile) rs771012852 0.00001
NM_005006.7(NDUFS1):c.261+6T>C rs748906579 0.00001
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val) rs763697779 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_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390 0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225 0.00001
NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) rs199422224 0.00001
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) rs1485032272 0.00001
NM_005138.3(SCO2):c.-51C>T rs886057631 0.00001
NM_005138.3(SCO2):c.4C>G (p.Leu2Val) rs747642461 0.00001
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys) rs780314255 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 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.1087A>G (p.Ile363Val) rs200270653 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007103.4(NDUFV1):c.1288G>A (p.Gly430Arg) rs776298670 0.00001
NM_007103.4(NDUFV1):c.1308+7A>T rs767679135 0.00001
NM_007103.4(NDUFV1):c.343G>A (p.Val115Met) rs751551838 0.00001
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr) rs757486575 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser) rs1024767789 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_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) rs121913661 0.00001
NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys) rs1017020344 0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) rs377022708 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_014222.3(NDUFA8):c.139C>T (p.Arg47Cys) rs767864225 0.00001
NM_014402.5(UQCRQ):c.*19G>T rs774125650 0.00001
NM_014402.5(UQCRQ):c.*468G>A rs190017949 0.00001
NM_014402.5(UQCRQ):c.*545A>C rs886059917 0.00001
NM_014402.5(UQCRQ):c.*953A>T rs934184832 0.00001
NM_014929.3(FASTKD2):c.-123T>G rs886055504 0.00001
NM_014929.3(FASTKD2):c.-127G>C rs886055503 0.00001
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) rs2061098856 0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) rs752513525 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_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg) rs387906957 0.00001
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620 0.00001
NM_016360.4(TACO1):c.261C>T (p.Asn87=) rs534248303 0.00001
NM_016360.4(TACO1):c.27A>G (p.Leu9=) rs1437447929 0.00001
NM_016360.4(TACO1):c.476A>G (p.Lys159Arg) rs1317601804 0.00001
NM_016360.4(TACO1):c.515+11G>A rs772746935 0.00001
NM_016360.4(TACO1):c.765C>G (p.Ser255=) rs760058934 0.00001
NM_016360.4(TACO1):c.847C>G (p.Leu283Val) rs761189530 0.00001
NM_016589.4(TIMMDC1):c.-2C>T rs562405336 0.00001
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp) rs774619141 0.00001
NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln) rs761981569 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.1054C>T (p.Arg352Trp) rs387907087 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.406C>T (p.Arg136Trp) rs373075574 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.86-1G>A rs768720209 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 0.00001
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) rs886047982 0.00001
NM_017547.4(FOXRED1):c.943A>G (p.Thr315Ala) rs111338847 0.00001
NM_017775.3(TTC19):c.-141G>A rs886052625 0.00001
NM_017775.3(TTC19):c.-444T>C rs886052624 0.00001
NM_017775.4(TTC19):c.*1099C>T rs886052634 0.00001
NM_017775.4(TTC19):c.*175A>C rs1005753609 0.00001
NM_017775.4(TTC19):c.*676C>T rs886052631 0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_017775.4(TTC19):c.200C>T (p.Ser67Leu) rs1198487870 0.00001
NM_017775.4(TTC19):c.25C>T (p.Leu9=) rs568088809 0.00001
NM_017775.4(TTC19):c.270C>G (p.Asp90Glu) rs757875189 0.00001
NM_017775.4(TTC19):c.439T>C (p.Phe147Leu) rs765464563 0.00001
NM_017775.4(TTC19):c.781G>A (p.Glu261Lys) rs755952117 0.00001
NM_017866.6(TMEM70):c.*1055A>G rs1380860147 0.00001
NM_017866.6(TMEM70):c.*18C>T rs757479728 0.00001
NM_017866.6(TMEM70):c.*196G>A rs886063101 0.00001
NM_017866.6(TMEM70):c.*531C>T rs904008344 0.00001
NM_017866.6(TMEM70):c.*657C>A rs774558050 0.00001
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_017866.6(TMEM70):c.10C>G (p.Leu4Val) rs779003036 0.00001
NM_017866.6(TMEM70):c.116C>G (p.Ala39Gly) rs770816150 0.00001
NM_017866.6(TMEM70):c.117G>A (p.Ala39=) rs774253391 0.00001
NM_017866.6(TMEM70):c.150C>T (p.Ala50=) rs765486183 0.00001
NM_017866.6(TMEM70):c.152G>T (p.Gly51Val) rs1251393091 0.00001
NM_017866.6(TMEM70):c.183C>T (p.Arg61=) rs1369561445 0.00001
NM_017866.6(TMEM70):c.211-14C>T rs751628718 0.00001
NM_017866.6(TMEM70):c.211-19A>G rs1283222145 0.00001
NM_017866.6(TMEM70):c.213C>A (p.Ile71=) rs756480039 0.00001
NM_017866.6(TMEM70):c.232T>C (p.Tyr78His) rs369641521 0.00001
NM_017866.6(TMEM70):c.233A>G (p.Tyr78Cys) rs1432671715 0.00001
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) rs387907070 0.00001
NM_017866.6(TMEM70):c.239G>A (p.Arg80Gln) rs376156875 0.00001
NM_017866.6(TMEM70):c.275G>T (p.Gly92Val) rs957760262 0.00001
NM_017866.6(TMEM70):c.298A>G (p.Met100Val) rs942928255 0.00001
NM_017866.6(TMEM70):c.314T>G (p.Phe105Cys) rs376101721 0.00001
NM_017866.6(TMEM70):c.364C>T (p.Leu122=) rs751120235 0.00001
NM_017866.6(TMEM70):c.36C>A (p.Val12=) rs775732442 0.00001
NM_017866.6(TMEM70):c.422A>G (p.Gln141Arg) rs769437093 0.00001
NM_017866.6(TMEM70):c.440T>C (p.Ile147Thr) rs201306262 0.00001
NM_017866.6(TMEM70):c.44C>T (p.Pro15Leu) rs768462177 0.00001
NM_017866.6(TMEM70):c.460A>T (p.Ile154Phe) rs1017176272 0.00001
NM_017866.6(TMEM70):c.480C>T (p.His160=) rs767141480 0.00001
NM_017866.6(TMEM70):c.48C>T (p.Leu16=) rs1246053882 0.00001
NM_017866.6(TMEM70):c.500T>C (p.Val167Ala) rs1010253072 0.00001
NM_017866.6(TMEM70):c.506G>A (p.Arg169Gln) rs752198525 0.00001
NM_017866.6(TMEM70):c.520G>A (p.Ala174Thr) rs1815793147 0.00001
NM_017866.6(TMEM70):c.523A>G (p.Thr175Ala) rs756982905 0.00001
NM_017866.6(TMEM70):c.649A>G (p.Lys217Glu) rs750215839 0.00001
NM_017866.6(TMEM70):c.675C>T (p.Leu225=) rs139775930 0.00001
NM_017866.6(TMEM70):c.677T>C (p.Phe226Ser) rs1815798828 0.00001
NM_017866.6(TMEM70):c.685C>A (p.Arg229Ser) rs367792607 0.00001
NM_017866.6(TMEM70):c.721G>A (p.Glu241Lys) rs762713721 0.00001
NM_017866.6(TMEM70):c.739A>G (p.Met247Val) rs1397722218 0.00001
NM_017866.6(TMEM70):c.740T>C (p.Met247Thr) rs753940409 0.00001
NM_017866.6(TMEM70):c.759G>A (p.Glu253=) rs746272027 0.00001
NM_017866.6(TMEM70):c.763C>T (p.Arg255Trp) rs1364312202 0.00001
NM_017866.6(TMEM70):c.85C>T (p.Leu29Phe) rs747425671 0.00001
NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) rs1240684251 0.00001
NM_018480.7(TMEM126B):c.137del (p.Ala46fs) rs764565613 0.00001
NM_021074.4(NDUFV2):c.-98G>T rs886054123 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.669_670insG (p.Ser224fs) rs772188600 0.00001
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=) rs547252886 0.00001
NM_022915.5(MRPL44):c.584T>C (p.Phe195Ser) rs1553539922 0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024120.5(NDUFAF5):c.223-907A>C rs1186667603 0.00001
NM_024120.5(NDUFAF5):c.263+8G>A rs200867652 0.00001
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter) rs368690277 0.00001
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) rs1199767012 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 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.415G>A (p.Asp139Asn) rs1171276645 0.00001
NM_024407.5(NDUFS7):c.434G>A (p.Arg145His) rs121434479 0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) rs1193585808 0.00001
NM_024407.5(NDUFS7):c.54-19G>A rs562814009 0.00001
NM_025152.2(NUBPL):c.-39G>A rs886050446 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.2T>C (p.Met1Thr) rs567437692 0.00001
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile) rs1273822033 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.693+1G>A rs751631278 0.00001
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001
NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) rs767543623 0.00001
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110 0.00001
NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser) rs965912564 0.00001
NM_032901.4(COX14):c.160T>C (p.Ser54Pro) rs778925220 0.00001
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_145691.4(ATPAF2):c.*54C>T rs547389437 0.00001
NM_145691.4(ATPAF2):c.-1G>T rs886052665 0.00001
NM_145691.4(ATPAF2):c.422+11T>C rs776986750 0.00001
NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro) rs746446116 0.00001
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) rs1057519084 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) rs773988847 0.00001
NM_174889.5(NDUFAF2):c.184del (p.Tyr62fs) rs1561557254 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NM_174889.5(NDUFAF2):c.1A>T (p.Met1Leu) rs1554076306 0.00001
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726 0.00001
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962 0.00001
NM_175614.5(NDUFA11):c.362C>T (p.Ala121Val) rs989204591 0.00001
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser) rs1192917919 0.00001
NM_198076.6(COX20):c.157+7A>G rs1227651240 0.00001
NM_198076.6(COX20):c.222G>T (p.Trp74Cys) rs766397584 0.00001
NM_198076.6(COX20):c.2T>C (p.Met1Thr) rs771264340 0.00001
NM_198076.6(COX20):c.343A>G (p.Ser115Gly) rs1322874143 0.00001
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) rs759189660 0.00001
NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr) rs121918136 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
GRCh38/hg38 17p12(chr17:16018139-16028011)x0
NC_000008.10:g.(?_74888517)_(75276602_?)dup
NC_000008.10:g.(?_74890971)_(74891116_?)del
NC_000008.10:g.(?_74890971)_(74903809_?)del
NC_000008.11:g.(?_73976132)_(74367120_?)dup
NC_000008.11:g.(?_73976262)_(73981641_?)del
NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del
NC_000014.9:g.102573453_103575949del
NC_000018.9:g.(9124982_9126828)_(9126906_9134183)del
NC_012920.1(MT-CO1):m.6480G>A rs199476128
NC_012920.1(MT-CO1):m.6930G>A rs28679680
NC_012920.1(MT-CO2):m.7587T>C rs199474825
NC_012920.1(MT-CO2):m.7671T>A rs199474827
NC_012920.1(MT-CO2):m.7896G>A rs199474829
NC_012920.1(MT-CO2):m.7965T>C rs1556423369
NC_012920.1(MT-CO2):m.8043_8044del rs199474828
NC_012920.1(MT-CO2):m.8088del rs1556423388
NC_012920.1(MT-CO3):m.9379G>A rs267606615
NC_012920.1(MT-CO3):m.9487_9501del rs267606612
NC_012920.1(MT-CO3):m.9537dup rs267606614
NC_012920.1(MT-CO3):m.9700T>C rs1603222437
NC_012920.1(MT-CO3):m.9952G>A rs267606613
NC_012920.1(MT-ND2):m.4810G>A rs267606888
NC_012920.1(MT-ND2):m.5133_5134del rs199476116
NC_012920.1(MT-ND3):m.10158T>C rs199476117
NC_012920.1(MT-ND3):m.10191T>C rs267606890
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-ND4):m.11777C>A rs28384199
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TN):m.5703G>A rs199476130
NC_012920.1(MT-TN):m.5728T>C rs199476132
NC_012920.1(MT-TS1):m.7453G>A rs2068703521
NC_012920.1(MT-TS1):m.7462C>T rs1569484151
NC_012920.1(MT-TS1):m.7471dup rs111033319
NC_012920.1(MT-TS1):m.7497G>A rs387906419
NC_012920.1(MT-TS1):m.7505T>C rs724159989
NC_012920.1(MT-TS1):m.7511T>C rs199474821
NC_012920.1(MT-TS1):m.7512T>C rs199474817
NM_001040431.3(COA3):c.199dup (p.Leu67fs) rs757472611
NM_001040431.3(COA3):c.269_273del (p.Asp90fs)
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) rs886055626
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs) rs2106333049
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) rs121908575
NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) rs121908580
NM_001079866.2(BCS1L):c.170A>G (p.Asp57Gly)
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) rs121908573
NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)
NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) rs1939494232
NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.655+1G>C rs1057516802
NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly) rs1459378570
NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)
NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) rs121908571
NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu) rs606231426
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) rs1598368033
NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu) rs1318084629
NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) rs1598367619
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro)
NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys) rs1057519073
NM_001136193.2(FASTKD2):c.*104A>G rs1690296763
NM_001136193.2(FASTKD2):c.*1270dup rs200366194
NM_001136193.2(FASTKD2):c.*1335G>T rs886055513
NM_001136193.2(FASTKD2):c.*1406G>A rs1254118064
NM_001136193.2(FASTKD2):c.*1438_*1449del rs58656956
NM_001136193.2(FASTKD2):c.*1452C>A rs886055515
NM_001136193.2(FASTKD2):c.*1494A>T rs890863510
NM_001136193.2(FASTKD2):c.*1520dup rs886055517
NM_001136193.2(FASTKD2):c.*1981C>G rs539483074
NM_001136193.2(FASTKD2):c.*2009_*2010del rs71930000
NM_001136193.2(FASTKD2):c.*2114del rs547846330
NM_001136193.2(FASTKD2):c.*2323CA[8] rs10655467
NM_001136193.2(FASTKD2):c.*2346C>T rs1690377680
NM_001136193.2(FASTKD2):c.*2488T>C rs6435351
NM_001136193.2(FASTKD2):c.*2876A>G rs886055520
NM_001136193.2(FASTKD2):c.*2885C>G rs1377432705
NM_001136193.2(FASTKD2):c.*2937A>C rs1690396063
NM_001136193.2(FASTKD2):c.*2997A>T rs1690398490
NM_001136193.2(FASTKD2):c.*3429G>A rs1033300928
NM_001136193.2(FASTKD2):c.*3453A>T rs1690414724
NM_001136193.2(FASTKD2):c.*3677G>T rs115714249
NM_001136193.2(FASTKD2):c.*3683G>T rs886055523
NM_001136193.2(FASTKD2):c.*3862C>T rs1295793391
NM_001136193.2(FASTKD2):c.*3896A>C rs886055525
NM_001136193.2(FASTKD2):c.*399T>A rs886055507
NM_001136193.2(FASTKD2):c.*624C>G rs886055509
NM_001136193.2(FASTKD2):c.*813G>A rs577136391
NM_001136193.2(FASTKD2):c.-15A>G rs886055505
NM_001136193.2(FASTKD2):c.-190A>G rs970608568
NM_001136193.2(FASTKD2):c.1021del (p.Ser341fs) rs1559360466
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001136193.2(FASTKD2):c.1435G>T (p.Val479Leu) rs145043229
NM_001136193.2(FASTKD2):c.1630G>A (p.Asp544Asn) rs535280179
NM_001136193.2(FASTKD2):c.1865A>G (p.Asp622Gly) rs751773316
NM_001136193.2(FASTKD2):c.1898G>T (p.Arg633Ile) rs1574675756
NM_001136193.2(FASTKD2):c.1992A>C (p.Ala664=) rs149018757
NM_001136193.2(FASTKD2):c.2041G>A (p.Glu681Lys) rs1690290911
NM_001136193.2(FASTKD2):c.452C>T (p.Pro151Leu) rs1689529600
NM_001136193.2(FASTKD2):c.832G>A (p.Glu278Lys) rs886055506
NM_001136193.2(FASTKD2):c.991-13G>A rs13421046
NM_001136193.2(FASTKD2):c.991-13G>C rs13421046
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) rs2037617604
NM_001171155.2(PET100):c.115-3C>G
NM_001171155.2(PET100):c.139-11_139-9del rs748611501
NM_001171155.2(PET100):c.184GAG[1] (p.Glu63del) rs1322397607
NM_001193375.3(NDUFA11):c.470_471del (p.Ser157fs)
NM_001193375.3(NDUFA11):c.559C>T (p.Arg187Trp)
NM_001193375.3(NDUFA11):c.590_600del (p.His197fs)
NM_001270888.1(SLC25A10):c.[684C>T;790-37G>A]
NM_001297732.2(COX18):c.667G>C (p.Asp223His)
NM_001303.3(COX10):c.-170C>G rs886052597
NM_001303.4(COX10):c.*1032T>A rs1906768949
NM_001303.4(COX10):c.*1367G>A rs555512140
NM_001303.4(COX10):c.*1383G>A rs145948022
NM_001303.4(COX10):c.*150_*152del rs200239586
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*408G>A rs886052603
NM_001303.4(COX10):c.*539C>A rs1906754704
NM_001303.4(COX10):c.*628C>G rs886052607
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*646C>G rs7214082
NM_001303.4(COX10):c.*720G>A rs1174121283
NM_001303.4(COX10):c.*831CT[1] rs397763766
NM_001303.4(COX10):c.-40G>A rs376921957
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.-90G>T rs886052598
NM_001303.4(COX10):c.1007A>G (p.Asp336Gly) rs104894557
NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)
NM_001303.4(COX10):c.1096G>A (p.Val366Met) rs111541535
NM_001303.4(COX10):c.1096G>T (p.Val366Leu) rs111541535
NM_001303.4(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.4(COX10):c.1262T>C (p.Leu421Pro)
NM_001303.4(COX10):c.1305C>T (p.Gly435=) rs199737206
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
NM_001303.4(COX10):c.2T>C (p.Met1Thr) rs387906383
NM_001303.4(COX10):c.413_414del (p.Lys138fs) rs2142182514
NM_001303.4(COX10):c.520G>A (p.Ala174Thr) rs2142200228
NM_001303.4(COX10):c.587C>A (p.Thr196Lys) rs104894555
NM_001303.4(COX10):c.612C>A (p.Asn204Lys) rs104894560
NM_001303.4(COX10):c.620del (p.Asn207fs)
NM_001303.4(COX10):c.637C>T (p.Pro213Ser) rs1597527929
NM_001303.4(COX10):c.64T>A (p.Trp22Arg) rs540737897
NM_001303.4(COX10):c.661A>G (p.Thr221Ala) rs1597527946
NM_001303.4(COX10):c.675G>T (p.Pro225=) rs199609301
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del) rs775741794
NM_001303.4(COX10):c.878C>T (p.Ala293Val)
NM_001303.4(COX10):c.929-9_929-7dup rs144296730
NM_001370595.2(COA8):c.-10dup rs559856575
NM_001370595.2(COA8):c.102_121dup (p.Gly41fs)
NM_001370595.2(COA8):c.106G>T (p.Asp36Tyr)
NM_001370595.2(COA8):c.123+10G>A rs751821020
NM_001370595.2(COA8):c.123+10G>C rs751821020
NM_001370595.2(COA8):c.124-1G>A rs587777785
NM_001370595.2(COA8):c.170_173dup (p.Pro59fs)
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter) rs587777784
NM_001370595.2(COA8):c.321+2T>A
NM_001370595.2(COA8):c.328G>T (p.Glu110Ter)
NM_001370595.2(COA8):c.328GAA[1] (p.Glu111del) rs587777787
NM_001370595.2(COA8):c.352A>T (p.Lys118Ter)
NM_001370595.2(COA8):c.388C>G (p.Gln130Glu) rs753824369
NM_001370595.2(COA8):c.40C>G (p.Pro14Ala) rs2274268
NM_001370595.2(COA8):c.40C>T (p.Pro14Ser) rs2274268
NM_001370595.2(COA8):c.41dup (p.Leu15fs) rs759966247
NM_001370595.2(COA8):c.476+1G>A rs900628637
NM_001377299.1(NDUFS2):c.*108_*109dup rs886045468
NM_001377299.1(NDUFS2):c.*187G>A rs886045469
NM_001377299.1(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_001377299.1(NDUFS2):c.*78GT[14] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[16] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[18] rs10629771
NM_001377299.1(NDUFS2):c.1213-9del rs750838845
NM_001377299.1(NDUFS2):c.1342G>A (p.Val448Ile)
NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)
NM_001377299.1(NDUFS2):c.393+5G>A rs375651203
NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp) rs1665634865
NM_001377299.1(NDUFS2):c.422A>G (p.Tyr141Cys) rs1665635198
NM_001377299.1(NDUFS2):c.442G>C (p.Glu148Gln)
NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)
NM_001377299.1(NDUFS2):c.628-17del rs775653766
NM_001377299.1(NDUFS2):c.662G>A (p.Arg221Gln) rs779304916
NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln) rs121434427
NM_001377299.1(NDUFS2):c.686C>A (p.Pro229Gln) rs121434428
NM_001377299.1(NDUFS2):c.702+14_702+17dup rs776704187
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001377299.1(NDUFS2):c.845A>C (p.Glu282Ala)
NM_001377299.1(NDUFS2):c.860G>A (p.Gly287Asp)
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.923A>G (p.Tyr308Cys)
NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His) rs1482687384
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) rs1555745989
NM_001687.5(ATP5F1D):c.349G>T (p.Glu117Ter)
NM_001861.6(COX4I1):c.303_304delinsTT (p.Lys101_Thr102delinsAsnSer) rs1906146144
NM_001861.6(COX4I1):c.454C>A (p.Pro152Thr) rs1906247824
NM_001863.5(COX6B1):c.-42G>A rs1967784761
NM_001863.5(COX6B1):c.-47A>G rs886054343
NM_001863.5(COX6B1):c.102C>T (p.Tyr34=) rs1967822544
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) rs778740017
NM_001916.5(CYC1):c.11C>T (p.Ala4Val)
NM_001916.5(CYC1):c.288G>T (p.Trp96Cys) rs587777041
NM_001916.5(CYC1):c.643C>T (p.Leu215Phe) rs587777042
NM_001916.5(CYC1):c.949C>T (p.Arg317Trp) rs374087453
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.5(NDUFA2):c.134A>C (p.Lys45Thr) rs757982865
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.5(NDUFA2):c.170A>C (p.Glu57Ala) rs1757460270
NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)
NM_002488.5(NDUFA2):c.209-39G>A
NM_002488.5(NDUFA2):c.225del (p.Asn76fs) rs863224084
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) rs1255776529
NM_002489.4(NDUFA4):c.131+1G>A
NM_002489.4(NDUFA4):c.42+1G>C rs1781236368
NM_002489.4(NDUFA4):c.42+1del
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) rs750830935
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) rs758833609
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) rs1569463838
NM_002490.6(NDUFA6):c.355del (p.Leu119fs) rs781099275
NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer) rs2125534778
NM_002491.3(NDUFB3):c.61C>T (p.Gln21Ter) rs2125534701
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.114del (p.Thr39fs)
NM_002495.4(NDUFS4):c.136dup (p.Gln46fs)
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.20C>G (p.Ser7Ter)
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
NM_002495.4(NDUFS4):c.235del (p.Ile79fs)
NM_002495.4(NDUFS4):c.26del (p.Val9fs)
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002495.4(NDUFS4):c.295del (p.Met99fs)
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)
NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter)
NM_002495.4(NDUFS4):c.350+1G>A rs1260453815
NM_002495.4(NDUFS4):c.350+5G>A rs1751865973
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.351-1G>C
NM_002495.4(NDUFS4):c.351-2A>C
NM_002495.4(NDUFS4):c.351-2A>G
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)
NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile)
NM_002495.4(NDUFS4):c.415G>T (p.Glu139Ter)
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002495.4(NDUFS4):c.424+2T>A
NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter)
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) rs104893899
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs) rs1740730588
NM_002495.4(NDUFS4):c.479dup (p.Tyr160Ter)
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) rs768080528
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) rs1329465366
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.160C>T (p.Arg54Trp)
NM_002496.4(NDUFS8):c.170G>C (p.Arg57Pro)
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu) rs121912639
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) rs746246241
NM_002496.4(NDUFS8):c.307C>T (p.Arg103Trp)
NM_002496.4(NDUFS8):c.325G>A (p.Glu109Lys)
NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)
NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser)
NM_002496.4(NDUFS8):c.372+1G>A
NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met) rs371659063
NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp) rs397514617
NM_002496.4(NDUFS8):c.499G>A (p.Glu167Lys)
NM_002496.4(NDUFS8):c.501+5G>A
NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter) rs2134419114
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.106G>C (p.Gly36Arg) rs1836579970
NM_003172.4(SURF1):c.152dup (p.Ser52fs) rs782767225
NM_003172.4(SURF1):c.187C>T (p.Gln63Ter)
NM_003172.4(SURF1):c.227T>A (p.Leu76Ter)
NM_003172.4(SURF1):c.312T>G (p.Pro104=)
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.323+2T>C rs1588691694
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) rs28933402
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
NM_003172.4(SURF1):c.49G>T (p.Gly17Ter)
NM_003172.4(SURF1):c.515+2T>C
NM_003172.4(SURF1):c.515+2T>G rs781787822
NM_003172.4(SURF1):c.516-1G>A
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.550_551del (p.Arg184fs) rs1588689993
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
NM_003172.4(SURF1):c.554dup (p.Lys186fs)
NM_003172.4(SURF1):c.574_575insCTCC (p.Arg192fs) rs2119081408
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.584G>A (p.Gly195Asp)
NM_003172.4(SURF1):c.584G>T (p.Gly195Val)
NM_003172.4(SURF1):c.587A>G (p.Gln196Arg)
NM_003172.4(SURF1):c.657_658del (p.Asn220fs)
NM_003172.4(SURF1):c.65del (p.Ser22fs)
NM_003172.4(SURF1):c.679T>C (p.Trp227Arg) rs398122806
NM_003172.4(SURF1):c.703A>G (p.Met235Val) rs782437393
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.779G>A (p.Gly260Glu)
NM_003172.4(SURF1):c.782_791del (p.Gly261fs)
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.808_812del (p.Glu270fs) rs1836430953
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) rs782788600
NM_003172.4(SURF1):c.809_810dup (p.His271fs)
NM_003172.4(SURF1):c.812A>G (p.His271Arg)
NM_003172.4(SURF1):c.820T>G (p.Tyr274Asp) rs121918658
NM_003172.4(SURF1):c.827_828del (p.Val276fs)
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.833+1del
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.856T>C (p.Ser286Pro)
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003172.4(SURF1):c.899_902del (p.Val300fs)
NM_003366.4(UQCRC2):c.117+1G>T
NM_003366.4(UQCRC2):c.1189G>A (p.Gly397Arg) rs1384782297
NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro) rs1164035037
NM_003366.4(UQCRC2):c.1254dup (p.Val419fs)
NM_003366.4(UQCRC2):c.206G>A (p.Ser69Asn)
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro) rs2141926322
NM_003366.4(UQCRC2):c.323G>A (p.Gly108Asp) rs2141927529
NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) rs374661051
NM_003366.4(UQCRC2):c.661A>T (p.Ile221Phe) rs1273091315
NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala) rs1898386320
NM_003366.4(UQCRC2):c.729dup (p.Leu244fs)
NM_004074.3(COX8A):c.115-1G>C rs869025575
NM_004146.6(NDUFB7):c.113-10C>G rs2074094096
NM_004146.6(NDUFB7):c.311G>A (p.Arg104Gln)
NM_004255.4(COX5A):c.266T>G (p.Ile89Ser)
NM_004255.4(COX5A):c.319C>T (p.Arg107Cys) rs2065346374
NM_004375.5(COX11):c.35_36delinsG (p.Val12fs)
NM_004375.5(COX11):c.668A>G (p.Gln223Arg)
NM_004375.5(COX11):c.730G>C (p.Ala244Pro)
NM_004375.5(COX11):c.739C>A (p.Pro247Thr)
NM_004375.5(COX11):c.758A>T (p.Asp253Val)
NM_004375.5(COX11):c.766dup (p.Thr256fs)
NM_004375.5(COX11):c.786T>G (p.Phe262Leu)
NM_004376.5(COX15):c.*3647A>T rs200422911
NM_004376.5(COX15):c.*4439G>A rs201701928
NM_004376.6(COX15):c.-398C>A rs886046615
NM_004541.4(NDUFA1):c.111G>C (p.Arg37Ser) rs104894885
NM_004541.4(NDUFA1):c.194G>T (p.Gly65Val) rs2056437698
NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg) rs104894884
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.*1229C>G rs55998047
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.*1894_*1914delinsGGG rs886055819
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.*2397A>G rs886055816
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.*438C>T rs13396556
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.1000-12367C>G
NM_004544.4(NDUFA10):c.1000-12409C>G
NM_004544.4(NDUFA10):c.1000-12427TCCCTCCTTGAAGCTGATCGT[2]
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) rs201449418
NM_004544.4(NDUFA10):c.1025_1026insATGG (p.Tyr343fs)
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.384_385insAAT (p.Ser128_Tyr129insAsn) rs1057519415
NM_004544.4(NDUFA10):c.425A>G (p.Gln142Arg) rs387906873
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) rs1559403435
NM_004544.4(NDUFA10):c.557A>C (p.His186Pro)
NM_004544.4(NDUFA10):c.558C>T (p.His186=) rs1407750102
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) rs148656779
NM_004544.4(NDUFA10):c.749+5G>A rs1697147446
NM_004544.4(NDUFA10):c.844C>T (p.Pro282Ser)
NM_004544.4(NDUFA10):c.881T>C (p.Leu294Pro) rs1057519414
NM_004544.4(NDUFA10):c.976C>T (p.Arg326Cys) rs762245412
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) rs758042753
NM_004548.3(NDUFB10):c.131-442G>C rs1475753965
NM_004549.6(NDUFC2):c.173A>T (p.His58Leu) rs1859088426
NM_004549.6(NDUFC2):c.346_*7del (p.His116fs) rs1858924087
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.133+3_133+6del rs759140196
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.204C>G (p.Ile68Met) rs886044765
NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.382-1del
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter)
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) rs773943416
NM_004553.6(NDUFS6):c.15G>A (p.Met5Ile)
NM_004553.6(NDUFS6):c.182_185del (p.Lys61fs)
NM_004553.6(NDUFS6):c.185_186del (p.Glu62fs)
NM_004553.6(NDUFS6):c.186+1G>A
NM_004553.6(NDUFS6):c.186+2T>A rs1561102614
NM_004553.6(NDUFS6):c.187-1G>C
NM_004553.6(NDUFS6):c.187-2A>T
NM_004553.6(NDUFS6):c.187-53_187-50del rs36074605
NM_004553.6(NDUFS6):c.223C>T (p.Gln75Ter)
NM_004553.6(NDUFS6):c.242del (p.Glu81fs)
NM_004553.6(NDUFS6):c.302_303del (p.Ile101fs)
NM_004553.6(NDUFS6):c.309+1G>C
NM_004553.6(NDUFS6):c.309+1G>T
NM_004553.6(NDUFS6):c.314_315del (p.Lys105fs)
NM_004553.6(NDUFS6):c.320_323del (p.Thr107fs)
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr) rs267606913
NM_004553.6(NDUFS6):c.356T>A (p.Phe119Tyr) rs2111364938
NM_004553.6(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)
NM_004553.6(NDUFS6):c.67C>T (p.Leu23=) rs1014264454
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) rs1579936916
NM_004553.6(NDUFS6):c.92G>T (p.Arg31Leu) rs770018272
NM_004589.3(SCO1):c.-53delA rs566330071
NM_004589.4(SCO1):c.*285C>T rs886052593
NM_004589.4(SCO1):c.*320= rs2040570
NM_004589.4(SCO1):c.*403A>G rs886052592
NM_004589.4(SCO1):c.*601del rs886052591
NM_004589.4(SCO1):c.10C>G (p.Leu4Val)
NM_004589.4(SCO1):c.153G>T (p.Ala51=) rs2074737981
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.4(SCO1):c.16C>T (p.Leu6=) rs61753148
NM_004589.4(SCO1):c.220C>T (p.Pro74Ser)
NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) rs370147170
NM_004589.4(SCO1):c.261del (p.Ser88fs) rs770131276
NM_004589.4(SCO1):c.263dup (p.Lys89fs) rs1176555010
NM_004589.4(SCO1):c.273G>A (p.Gly91=) rs886052596
NM_004589.4(SCO1):c.364_364+1del rs587776629
NM_004589.4(SCO1):c.393C>T (p.Ile131=) rs778406995
NM_004589.4(SCO1):c.433C>T (p.His145Tyr) rs2074698464
NM_004589.4(SCO1):c.511G>A (p.Asp171Asn)
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_004589.4(SCO1):c.555del (p.Asp185fs)
NM_004589.4(SCO1):c.563-11CT[2]
NM_004589.4(SCO1):c.628A>C (p.Lys210Gln) rs369847747
NM_004589.4(SCO1):c.656-20C>G rs375940362
NM_004589.4(SCO1):c.722A>G (p.Tyr241Cys)
NM_004589.4(SCO1):c.769A>C (p.Ile257Leu) rs1234427803
NM_004589.4(SCO1):c.798G>C (p.Leu266Phe) rs1397651609
NM_005002.5(NDUFA9):c.158G>C (p.Gly53Ala)
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005002.5(NDUFA9):c.251A>C (p.Tyr84Ser) rs1565564733
NM_005002.5(NDUFA9):c.267T>A (p.Tyr89Ter)
NM_005002.5(NDUFA9):c.50G>T (p.Arg17Leu)
NM_005002.5(NDUFA9):c.721T>C (p.Tyr241His)
NM_005002.5(NDUFA9):c.895C>T (p.Arg299Ter)
NM_005002.5(NDUFA9):c.938G>A (p.Trp313Ter) rs1945978807
NM_005002.5(NDUFA9):c.962G>C (p.Arg321Pro) rs199592341
NM_005004.4(NDUFB8):c.184T>C (p.Tyr62His) rs1554843434
NM_005004.4(NDUFB8):c.189del (p.Glu63fs) rs1264186261
NM_005004.4(NDUFB8):c.227C>A (p.Pro76Gln) rs1239013578
NM_005004.4(NDUFB8):c.358del (p.Ser120fs) rs2133710956
NM_005004.4(NDUFB8):c.432C>G (p.Cys144Trp) rs1554843251
NM_005005.3(NDUFB9):c.-51A>G rs371001929
NM_005005.3(NDUFB9):c.294+5G>T rs1085307890
NM_005006.6(NDUFS1):c.-149T>G rs572965960
NM_005006.7(NDUFS1):c.*1077A>T rs917604810
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*459A>G rs1691173843
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A rs1691159722
NM_005006.7(NDUFS1):c.*93dup rs200446477
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.-47C>G rs4147707
NM_005006.7(NDUFS1):c.-73C>A rs367649369
NM_005006.7(NDUFS1):c.-76G>A rs116137442
NM_005006.7(NDUFS1):c.1119dup (p.Thr374fs)
NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys)
NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del) rs1559055100
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) rs78042826
NM_005006.7(NDUFS1):c.1298_1325del (p.Gly433fs)
NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)
NM_005006.7(NDUFS1):c.134C>A (p.Pro45Gln)
NM_005006.7(NDUFS1):c.1364T>C (p.Ile455Thr)
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-11_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-13_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-33dup rs568965659
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_005006.7(NDUFS1):c.1546C>T (p.Leu516Phe)
NM_005006.7(NDUFS1):c.1651G>T (p.Asp551Tyr)
NM_005006.7(NDUFS1):c.1717G>A (p.Gly573Ser)
NM_005006.7(NDUFS1):c.1776G>T (p.Lys592Asn)
NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala) rs387907199
NM_005006.7(NDUFS1):c.1810C>T (p.Gln604Ter) rs2105945363
NM_005006.7(NDUFS1):c.184C>T (p.Arg62Ter) rs2105978220
NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn) rs397515447
NM_005006.7(NDUFS1):c.1880_1881del (p.Leu626_Ser627insTer)
NM_005006.7(NDUFS1):c.1990T>G (p.Tyr664Asp)
NM_005006.7(NDUFS1):c.2102G>A (p.Ser701Asn)
NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile) rs1321888585
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-15dup rs34184317
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.389T>A (p.Ile130Asn)
NM_005006.7(NDUFS1):c.548T>G (p.Ile183Ser)
NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr) rs1458382625
NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)
NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr)
NM_005006.7(NDUFS1):c.586G>A (p.Gly196Arg) rs2105974048
NM_005006.7(NDUFS1):c.666_668del (p.Ile223del) rs397515383
NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val) rs199422226
NM_005006.7(NDUFS1):c.737+1G>A rs935776676
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) rs774232299
NM_005006.7(NDUFS1):c.988-2A>C
NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)
NM_005138.3(SCO2):c.-135_-132dup rs143413019
NM_005138.3(SCO2):c.226C>T (p.Leu76=) rs942543259
NM_005138.3(SCO2):c.276A>G (p.Glu92=) rs886057630
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_005138.3(SCO2):c.738G>A (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.738G>C (p.Ser246=) rs200605042
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) rs1597176845
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_006004.4(UQCRH):c.55-527_243+48del
NM_006294.5(UQCRB):c.305G>A (p.Arg102Lys)
NM_006886.4(ATP5F1E):c.151G>T (p.Glu51Ter)
NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) rs387906929
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.1118T>C (p.Phe373Ser) rs1135402749
NM_007103.4(NDUFV1):c.1163G>A (p.Gly388Asp)
NM_007103.4(NDUFV1):c.1213_1234del (p.Arg405fs)
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.151_152del (p.Trp51fs) rs2134082911
NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr) rs201727685
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.283A>G (p.Thr95Ala) rs147242476
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter) rs1591109810
NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly) rs1290684221
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln) rs778295360
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.450dup (p.Ala151fs)
NM_007103.4(NDUFV1):c.455G>A (p.Arg152His)
NM_007103.4(NDUFV1):c.475C>T (p.Arg159Ter)
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala) rs773368756
NM_007103.4(NDUFV1):c.520C>T (p.Arg174Ter)
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
NM_007103.4(NDUFV1):c.797dup (p.Arg267fs) rs2134085151
NM_007103.4(NDUFV1):c.853C>A (p.Pro285Thr)
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) rs1432435322
NM_007103.4(NDUFV1):c.961G>A (p.Gly321Ser)
NM_007103.4(NDUFV1):c.995_1000del (p.Cys332_Thr334delinsSer)
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_014049.5(ACAD9):c.1029+1dup rs2107657797
NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser) rs777282696
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) rs368949613
NM_014049.5(ACAD9):c.151-1_151del rs766026673
NM_014049.5(ACAD9):c.1674_1692+34del rs2107664575
NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe)
NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser)
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.634-1G>A
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs)
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
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.-32del rs886061831
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) rs63751061
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser) rs1775313687
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) rs1562146819
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014165.4(NDUFAF4):c.83C>G (p.Ser28Cys) rs1775406837
NM_014222.3(NDUFA8):c.130A>G (p.Met44Val)
NM_014222.3(NDUFA8):c.293G>T (p.Arg98Leu) rs1319414797
NM_014222.3(NDUFA8):c.403C>T (p.Arg135Ter) rs760549929
NM_014402.5(UQCRQ):c.*1010C>G rs551228154
NM_014402.5(UQCRQ):c.*1086A>C rs886059919
NM_014402.5(UQCRQ):c.*1115G>C rs1759703810
NM_014402.5(UQCRQ):c.*1120A>C rs1759703978
NM_014402.5(UQCRQ):c.*1175del rs67367845
NM_014402.5(UQCRQ):c.*236C>G rs116229809
NM_014402.5(UQCRQ):c.*236C>T rs116229809
NM_014402.5(UQCRQ):c.*359G>T rs1342308478
NM_014402.5(UQCRQ):c.*485G>A rs1759688069
NM_014402.5(UQCRQ):c.*622T>G rs182652065
NM_014402.5(UQCRQ):c.*723A>G rs17166297
NM_014402.5(UQCRQ):c.*970A>C rs185184076
NM_014402.5(UQCRQ):c.*970A>G rs185184076
NM_014402.5(UQCRQ):c.*979G>A rs536513933
NM_014402.5(UQCRQ):c.-18G>C rs527907338
NM_014402.5(UQCRQ):c.-31del rs886059916
NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe) rs11544803
NM_015965.7(NDUFA13):c.187G>A (p.Glu63Lys)
NM_015965.7(NDUFA13):c.194del (p.Phe65fs) rs2061105702
NM_015965.7(NDUFA13):c.2T>C (p.Met1Thr)
NM_015965.7(NDUFA13):c.310T>C (p.Trp104Arg)
NM_015965.7(NDUFA13):c.433T>C (p.Ter145Gln)
NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)
NM_015965.7(NDUFA13):c.94+1G>A
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.619A>C (p.Thr207Pro) rs387906956
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.624_625del (p.Tyr209fs)
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val) rs769371844
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg) rs376344575
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016360.4(TACO1):c.*251A>G rs541123397
NM_016360.4(TACO1):c.212G>C (p.Gly71Ala) rs886053233
NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)
NM_016360.4(TACO1):c.280+1G>C
NM_016360.4(TACO1):c.472dup (p.His158fs) rs587776513
NM_016360.4(TACO1):c.511A>C (p.Asn171His) rs886053234
NM_016360.4(TACO1):c.583del (p.Asp195fs) rs2033870567
NM_016360.4(TACO1):c.638C>A (p.Ala213Glu) rs199894582
NM_016360.4(TACO1):c.693+4A>G
NM_016360.4(TACO1):c.814G>A (p.Asp272Asn)
NM_016360.4(TACO1):c.874G>A (p.Val292Ile) rs150322947
NM_016360.4(TACO1):c.97dup (p.Arg33fs) rs759254294
NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)
NM_016589.4(TIMMDC1):c.194+2T>C
NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)
NM_016589.4(TIMMDC1):c.361-5T>G rs531927123
NM_016589.4(TIMMDC1):c.596+1del
NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs) rs750461248
NM_017547.4(FOXRED1):c.*93G>A rs114082966
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.1057G>T (p.Glu353Ter) rs780131344
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=) rs560953332
NM_017547.4(FOXRED1):c.1234_1239del (p.Asp412_Tyr413del)
NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) rs267606830
NM_017547.4(FOXRED1):c.1418G>A (p.Arg473His)
NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala) rs1950986906
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=) rs1951030849
NM_017547.4(FOXRED1):c.354G>C (p.Gln118His)
NM_017547.4(FOXRED1):c.417+6T>C rs1951035111
NM_017547.4(FOXRED1):c.449T>G (p.Leu150Arg) rs756631739
NM_017547.4(FOXRED1):c.50G>A (p.Arg17Gln)
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_017547.4(FOXRED1):c.677G>A (p.Gly226Glu)
NM_017547.4(FOXRED1):c.682C>T (p.Arg228Trp) rs758966293
NM_017547.4(FOXRED1):c.733+1G>A
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.972-3C>A rs781102596
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_017775.3(TTC19):c.-169C>G rs73276077
NM_017775.4(TTC19):c.*1003C>T rs1971668947
NM_017775.4(TTC19):c.*1008G>A rs886052633
NM_017775.4(TTC19):c.*1296_*1298dup rs886052636
NM_017775.4(TTC19):c.*1317_*1324dup rs59177775
NM_017775.4(TTC19):c.*1320_*1324dup rs59177775
NM_017775.4(TTC19):c.*1321_*1324dup rs59177775
NM_017775.4(TTC19):c.*1323_*1324dup rs59177775
NM_017775.4(TTC19):c.*1324del rs59177775
NM_017775.4(TTC19):c.*1324dup rs59177775
NM_017775.4(TTC19):c.*1325delinsAAAAAAAAAA rs886052641
NM_017775.4(TTC19):c.*1464A>C rs1971725558
NM_017775.4(TTC19):c.*258C>G rs1178465677
NM_017775.4(TTC19):c.*297G>A rs886052628
NM_017775.4(TTC19):c.*536C>T rs998893430
NM_017775.4(TTC19):c.*670dup rs764835326
NM_017775.4(TTC19):c.*753A>G rs886052632
NM_017775.4(TTC19):c.*999T>C rs945625353
NM_017775.4(TTC19):c.1002T>A (p.Tyr334Ter)
NM_017775.4(TTC19):c.1038G>A (p.Lys346=) rs1971602261
NM_017775.4(TTC19):c.1056_1058del (p.Lys352_Asp353delinsAsn) rs755549162
NM_017775.4(TTC19):c.155G>A (p.Arg52Gln) rs886052626
NM_017775.4(TTC19):c.184+1G>A
NM_017775.4(TTC19):c.312+43C>A rs758853
NM_017775.4(TTC19):c.424-3C>G rs1283394462
NM_017775.4(TTC19):c.463-1G>C
NM_017775.4(TTC19):c.517C>T (p.Gln173Ter) rs387907094
NM_017775.4(TTC19):c.519+2T>A
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017775.4(TTC19):c.581+1G>A rs1970827663
NM_017775.4(TTC19):c.581+1_581+5del rs1970827483
NM_017775.4(TTC19):c.601_604del (p.Gly201fs) rs794726691
NM_017775.4(TTC19):c.612C>G (p.Phe204Leu) rs544027755
NM_017775.4(TTC19):c.718_719insA (p.Leu240fs)
NM_017775.4(TTC19):c.766G>A (p.Ala256Thr) rs1042684635
NM_017775.4(TTC19):c.817G>T (p.Glu273Ter) rs1555530551
NM_017775.4(TTC19):c.829C>T (p.Gln277Ter) rs794726692
NM_017775.4(TTC19):c.903dup (p.Met302fs)
NM_017775.4(TTC19):c.906G>A (p.Met302Ile)
NM_017775.4(TTC19):c.988C>G (p.His330Asp) rs1971572630
NM_017866.6(TMEM70):c.*1153G>A rs181595554
NM_017866.6(TMEM70):c.*178A>G rs1815810364
NM_017866.6(TMEM70):c.*706C>T rs749995139
NM_017866.6(TMEM70):c.*942G>C rs531849936
NM_017866.6(TMEM70):c.-39G>A rs200386494
NM_017866.6(TMEM70):c.-39G>T rs200386494
NM_017866.6(TMEM70):c.100dup (p.Ala34fs) rs1563697094
NM_017866.6(TMEM70):c.102C>T (p.Ala34=)
NM_017866.6(TMEM70):c.102_116dup (p.Ser40_Ser41insValSerArgAlaSer)
NM_017866.6(TMEM70):c.106G>A (p.Val36Ile)
NM_017866.6(TMEM70):c.11T>G (p.Leu4Arg) rs2131230721
NM_017866.6(TMEM70):c.129C>T (p.Ser43=)
NM_017866.6(TMEM70):c.135T>C (p.Pro45=)
NM_017866.6(TMEM70):c.138G>A (p.Ser46=)
NM_017866.6(TMEM70):c.144_167del (p.Val49_Pro56del)
NM_017866.6(TMEM70):c.148G>A (p.Ala50Thr) rs2131231062
NM_017866.6(TMEM70):c.153C>A (p.Gly51=) rs562374948
NM_017866.6(TMEM70):c.153C>T (p.Gly51=)
NM_017866.6(TMEM70):c.155G>C (p.Trp52Ser)
NM_017866.6(TMEM70):c.158G>C (p.Ser53Thr) rs1815650246
NM_017866.6(TMEM70):c.16T>C (p.Leu6=)
NM_017866.6(TMEM70):c.177C>T (p.Ala59=)
NM_017866.6(TMEM70):c.177dup (p.Ala60fs)
NM_017866.6(TMEM70):c.180G>C (p.Ala60=)
NM_017866.6(TMEM70):c.181C>A (p.Arg61Ser)
NM_017866.6(TMEM70):c.188T>G (p.Leu63Arg)
NM_017866.6(TMEM70):c.189C>T (p.Leu63=)
NM_017866.6(TMEM70):c.190C>T (p.Arg64Trp)
NM_017866.6(TMEM70):c.192G>A (p.Arg64=)
NM_017866.6(TMEM70):c.197del (p.Pro66fs) rs1376883697
NM_017866.6(TMEM70):c.210+15G>A
NM_017866.6(TMEM70):c.210+17C>T
NM_017866.6(TMEM70):c.210+18T>G rs1815652688
NM_017866.6(TMEM70):c.210+4G>A rs1815652294
NM_017866.6(TMEM70):c.210+8G>A rs1586633936
NM_017866.6(TMEM70):c.210+8G>T
NM_017866.6(TMEM70):c.211-12C>T
NM_017866.6(TMEM70):c.211-13C>T
NM_017866.6(TMEM70):c.211-18T>C rs2131233703
NM_017866.6(TMEM70):c.211-2A>G
NM_017866.6(TMEM70):c.211-6_220del
NM_017866.6(TMEM70):c.211A>G (p.Ile71Val)
NM_017866.6(TMEM70):c.215C>T (p.Pro72Leu)
NM_017866.6(TMEM70):c.224G>A (p.Trp75Ter)
NM_017866.6(TMEM70):c.227A>G (p.Glu76Gly)
NM_017866.6(TMEM70):c.22_23delinsCC (p.Ser8Pro)
NM_017866.6(TMEM70):c.241T>G (p.Phe81Val)
NM_017866.6(TMEM70):c.24C>A (p.Ser8Arg) rs1215450178
NM_017866.6(TMEM70):c.258T>G (p.Ser86=) rs1359962230
NM_017866.6(TMEM70):c.260A>G (p.Asp87Gly) rs1815716476
NM_017866.6(TMEM70):c.268G>C (p.Glu90Gln) rs2131233810
NM_017866.6(TMEM70):c.26C>T (p.Pro9Leu)
NM_017866.6(TMEM70):c.271G>A (p.Asp91Asn) rs2131233820
NM_017866.6(TMEM70):c.272A>T (p.Asp91Val)
NM_017866.6(TMEM70):c.27G>C (p.Pro9=)
NM_017866.6(TMEM70):c.27G>T (p.Pro9=)
NM_017866.6(TMEM70):c.288T>C (p.Tyr96=)
NM_017866.6(TMEM70):c.293G>A (p.Gly98Asp)
NM_017866.6(TMEM70):c.296A>G (p.Asn99Ser)
NM_017866.6(TMEM70):c.2T>C (p.Met1Thr) rs1815641175
NM_017866.6(TMEM70):c.305G>A (p.Arg102Gln) rs1455207577
NM_017866.6(TMEM70):c.308C>T (p.Ala103Val)
NM_017866.6(TMEM70):c.309A>C (p.Ala103=)
NM_017866.6(TMEM70):c.30_31dup (p.Ala11fs)
NM_017866.6(TMEM70):c.315T>G (p.Phe105Leu)
NM_017866.6(TMEM70):c.316+14G>A rs778535969
NM_017866.6(TMEM70):c.317-10T>C rs1815782340
NM_017866.6(TMEM70):c.317-12T>G rs1049768996
NM_017866.6(TMEM70):c.317-17_317-14del
NM_017866.6(TMEM70):c.317-23CT[2]
NM_017866.6(TMEM70):c.317-6A>G
NM_017866.6(TMEM70):c.326G>T (p.Cys109Phe) rs372219983
NM_017866.6(TMEM70):c.331T>C (p.Ser111Pro) rs1369144121
NM_017866.6(TMEM70):c.336T>A (p.Tyr112Ter) rs1586636643
NM_017866.6(TMEM70):c.336T>C (p.Tyr112=)
NM_017866.6(TMEM70):c.339T>C (p.Ser113=)
NM_017866.6(TMEM70):c.342G>C (p.Thr114=) rs2131236507
NM_017866.6(TMEM70):c.354C>G (p.Gly118=)
NM_017866.6(TMEM70):c.359del (p.Thr120fs) rs2131236556
NM_017866.6(TMEM70):c.360A>G (p.Thr120=)
NM_017866.6(TMEM70):c.368_369delinsTT (p.Pro123Leu) rs2131236578
NM_017866.6(TMEM70):c.368del (p.Pro123fs) rs2131236570
NM_017866.6(TMEM70):c.378dup (p.Thr127fs) rs1554599411
NM_017866.6(TMEM70):c.380C>G (p.Thr127Arg)
NM_017866.6(TMEM70):c.392C>G (p.Ala131Gly)
NM_017866.6(TMEM70):c.393T>C (p.Ala131=)
NM_017866.6(TMEM70):c.397T>G (p.Ser133Ala)
NM_017866.6(TMEM70):c.405T>C (p.Ser135=) rs2131236630
NM_017866.6(TMEM70):c.407T>C (p.Val136Ala) rs1171318510
NM_017866.6(TMEM70):c.409C>T (p.Pro137Ser) rs1563699651
NM_017866.6(TMEM70):c.415C>T (p.Pro139Ser)
NM_017866.6(TMEM70):c.418A>G (p.Ile140Val)
NM_017866.6(TMEM70):c.426C>T (p.Ile142=)
NM_017866.6(TMEM70):c.427A>G (p.Ile143Val) rs1815788537
NM_017866.6(TMEM70):c.429A>T (p.Ile143=)
NM_017866.6(TMEM70):c.432C>T (p.Phe144=) rs149499528
NM_017866.6(TMEM70):c.43C>T (p.Pro15Ser)
NM_017866.6(TMEM70):c.459G>C (p.Val153=)
NM_017866.6(TMEM70):c.483T>C (p.Phe161=)
NM_017866.6(TMEM70):c.492del (p.Gly165fs)
NM_017866.6(TMEM70):c.494G>A (p.Gly165Asp) rs121908743
NM_017866.6(TMEM70):c.497A>G (p.Tyr166Cys) rs1385467886
NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs)
NM_017866.6(TMEM70):c.499G>A (p.Val167Ile) rs1554599426
NM_017866.6(TMEM70):c.500del (p.Val167fs) rs1426201422
NM_017866.6(TMEM70):c.501C>G (p.Val167=)
NM_017866.6(TMEM70):c.502A>G (p.Ile168Val)
NM_017866.6(TMEM70):c.505C>A (p.Arg169=)
NM_017866.6(TMEM70):c.505C>T (p.Arg169Ter)
NM_017866.6(TMEM70):c.515A>G (p.His172Arg)
NM_017866.6(TMEM70):c.522C>T (p.Ala174=) rs1586636816
NM_017866.6(TMEM70):c.532A>G (p.Thr178Ala)
NM_017866.6(TMEM70):c.537T>C (p.Tyr179=)
NM_017866.6(TMEM70):c.543C>T (p.Ala181=)
NM_017866.6(TMEM70):c.549C>T (p.Thr183=)
NM_017866.6(TMEM70):c.554A>G (p.Asn185Ser) rs952309136
NM_017866.6(TMEM70):c.56GGA[1] (p.Arg20del) rs2131230816
NM_017866.6(TMEM70):c.572C>G (p.Thr191Arg)
NM_017866.6(TMEM70):c.572C>T (p.Thr191Met)
NM_017866.6(TMEM70):c.573G>A (p.Thr191=)
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs) rs777501387
NM_017866.6(TMEM70):c.57G>C (p.Arg19Ser)
NM_017866.6(TMEM70):c.580G>T (p.Val194Leu) rs77410280
NM_017866.6(TMEM70):c.588C>G (p.His196Gln)
NM_017866.6(TMEM70):c.588C>T (p.His196=) rs199726326
NM_017866.6(TMEM70):c.58A>C (p.Arg20=)
NM_017866.6(TMEM70):c.606T>C (p.Ile202=)
NM_017866.6(TMEM70):c.614C>T (p.Ala205Val)
NM_017866.6(TMEM70):c.618A>C (p.Lys206Asn)
NM_017866.6(TMEM70):c.655C>G (p.Leu219Val) rs1404281937
NM_017866.6(TMEM70):c.661_664del (p.Val221fs) rs1398724262
NM_017866.6(TMEM70):c.66A>G (p.Ala22=)
NM_017866.6(TMEM70):c.67T>C (p.Leu23=) rs1175563560
NM_017866.6(TMEM70):c.67T>G (p.Leu23Val)
NM_017866.6(TMEM70):c.686G>A (p.Arg229His)
NM_017866.6(TMEM70):c.687T>G (p.Arg229=)
NM_017866.6(TMEM70):c.68T>G (p.Leu23Trp) rs1378455412
NM_017866.6(TMEM70):c.693C>G (p.Asp231Glu)
NM_017866.6(TMEM70):c.697A>T (p.Ile233Phe)
NM_017866.6(TMEM70):c.709G>T (p.Gly237Cys)
NM_017866.6(TMEM70):c.714T>A (p.Tyr238Ter) rs750224671
NM_017866.6(TMEM70):c.715G>C (p.Asp239His)
NM_017866.6(TMEM70):c.718A>C (p.Lys240Gln) rs1815800902
NM_017866.6(TMEM70):c.718A>T (p.Lys240Ter)
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs) rs746973761
NM_017866.6(TMEM70):c.729T>C (p.Phe243=)
NM_017866.6(TMEM70):c.741G>A (p.Met247Ile) rs1190169356
NM_017866.6(TMEM70):c.744A>G (p.Glu248=) rs2131237166
NM_017866.6(TMEM70):c.75G>A (p.Ala25=)
NM_017866.6(TMEM70):c.75G>T (p.Ala25=) rs754740259
NM_017866.6(TMEM70):c.765G>A (p.Arg255=) rs2131237202
NM_017866.6(TMEM70):c.773A>G (p.Asp258Gly)
NM_017866.6(TMEM70):c.777C>A (p.Asp259Glu)
NM_017866.6(TMEM70):c.779A>G (p.Lys260Arg)
NM_017866.6(TMEM70):c.77C>T (p.Ala26Val) rs757460663
NM_017866.6(TMEM70):c.782G>C (p.Ter261Ser) rs1330067430
NM_017866.6(TMEM70):c.81C>T (p.Ala27=)
NM_017866.6(TMEM70):c.84G>T (p.Ala28=) rs780673904
NM_017866.6(TMEM70):c.91G>A (p.Gly31Ser)
NM_017866.6(TMEM70):c.95C>G (p.Pro32Arg) rs2131230903
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018480.7(TMEM126B):c.208C>T (p.Gln70Ter) rs886037857
NM_018480.7(TMEM126B):c.290dup (p.Lys98fs)
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) rs752316853
NM_018480.7(TMEM126B):c.401del (p.Asn134fs) rs886037835
NM_018480.7(TMEM126B):c.421_422del (p.Val141fs) rs747181703
NM_018480.7(TMEM126B):c.626T>C (p.Ile209Thr)
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs) rs1592708249
NM_018838.5(NDUFA12):c.153CAA[1] (p.Asn52del)
NM_018838.5(NDUFA12):c.224G>A (p.Trp75Ter) rs2136069811
NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter) rs1592704794
NM_018838.5(NDUFA12):c.395del (p.Lys132fs) rs2136056220
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_018838.5(NDUFA12):c.5del (p.Glu2fs)
NM_018838.5(NDUFA12):c.83del (p.Phe28fs) rs1259705655
NM_018838.5(NDUFA12):c.83dup (p.Arg29fs) rs1259705655
NM_018838.5(NDUFA12):c.86G>A (p.Arg29Lys) rs747101350
NM_020354.5(ENTPD7):c.*6425_*6426dup rs11405417
NM_021074.5(NDUFV2):c.*51A>C rs1188007874
NM_021074.5(NDUFV2):c.-39G>T rs748188888
NM_021074.5(NDUFV2):c.120+5_120+8del rs752670374
NM_021074.5(NDUFV2):c.121-3T>C
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu) rs1035730836
NM_021074.5(NDUFV2):c.301-10A>G rs756241126
NM_021074.5(NDUFV2):c.301-3del rs759348789
NM_021074.5(NDUFV2):c.346G>C (p.Ala116Pro)
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.547G>A (p.Ala183Thr)
NM_021074.5(NDUFV2):c.548C>T (p.Ala183Val) rs763378243
NM_021074.5(NDUFV2):c.579+1G>A
NM_021074.5(NDUFV2):c.580G>A (p.Glu194Lys) rs1349183227
NM_021074.5(NDUFV2):c.656+8T>A
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=) rs1372175274
NM_024120.5(NDUFAF5):c.1004_1007del (p.Asn335fs)
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.114C>A (p.Ser38Arg) rs369277594
NM_024120.5(NDUFAF5):c.11dup (p.Ala5fs)
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys) rs1980757406
NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly) rs377078447
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) rs1600305570
NM_024120.5(NDUFAF5):c.165_166del (p.Lys56fs)
NM_024120.5(NDUFAF5):c.172T>G (p.Trp58Gly) rs1980768478
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu) rs1980770637
NM_024120.5(NDUFAF5):c.183_190dup (p.Glu64fs)
NM_024120.5(NDUFAF5):c.189del (p.Glu64fs)
NM_024120.5(NDUFAF5):c.204del (p.Phe68fs)
NM_024120.5(NDUFAF5):c.222+8_222+15del rs3831170
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] rs749228752
NM_024120.5(NDUFAF5):c.223-2A>T
NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp) rs761333847
NM_024120.5(NDUFAF5):c.23G>A (p.Trp8Ter)
NM_024120.5(NDUFAF5):c.24G>A (p.Trp8Ter)
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) rs768566143
NM_024120.5(NDUFAF5):c.277_280del (p.Ala93fs)
NM_024120.5(NDUFAF5):c.29T>A (p.Leu10Ter)
NM_024120.5(NDUFAF5):c.30_31del (p.Cys11fs)
NM_024120.5(NDUFAF5):c.327+2T>C
NM_024120.5(NDUFAF5):c.327+3A>G
NM_024120.5(NDUFAF5):c.328-3C>T
NM_024120.5(NDUFAF5):c.376-1G>T
NM_024120.5(NDUFAF5):c.37C>T (p.Arg13Ter)
NM_024120.5(NDUFAF5):c.380dup (p.Asn127fs)
NM_024120.5(NDUFAF5):c.408dup (p.Ser137fs)
NM_024120.5(NDUFAF5):c.440del (p.Phe147fs)
NM_024120.5(NDUFAF5):c.445G>T (p.Glu149Ter)
NM_024120.5(NDUFAF5):c.44G>A (p.Trp15Ter) rs576780935
NM_024120.5(NDUFAF5):c.46del (p.Ala16fs)
NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) rs267606689
NM_024120.5(NDUFAF5):c.479+1G>A
NM_024120.5(NDUFAF5):c.480-1G>T
NM_024120.5(NDUFAF5):c.482dup (p.Leu161fs)
NM_024120.5(NDUFAF5):c.489G>A (p.Trp163Ter)
NM_024120.5(NDUFAF5):c.520-1G>C
NM_024120.5(NDUFAF5):c.552dup (p.Ile185fs)
NM_024120.5(NDUFAF5):c.577A>G (p.Thr193Ala)
NM_024120.5(NDUFAF5):c.583dup (p.Tyr195fs) rs1555834773
NM_024120.5(NDUFAF5):c.600del (p.Leu201fs)
NM_024120.5(NDUFAF5):c.679del (p.His227fs)
NM_024120.5(NDUFAF5):c.690del (p.Arg231fs)
NM_024120.5(NDUFAF5):c.711dup (p.Thr238fs)
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
NM_024120.5(NDUFAF5):c.717+1G>A
NM_024120.5(NDUFAF5):c.718-1G>A rs1359810808
NM_024120.5(NDUFAF5):c.743A>C (p.Tyr248Ser)
NM_024120.5(NDUFAF5):c.752T>G (p.Met251Arg)
NM_024120.5(NDUFAF5):c.779-1G>C
NM_024120.5(NDUFAF5):c.782T>C (p.Met261Thr)
NM_024120.5(NDUFAF5):c.803G>A (p.Trp268Ter)
NM_024120.5(NDUFAF5):c.804del (p.Ala267_Trp268insTer)
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024120.5(NDUFAF5):c.826C>T (p.Arg276Ter)
NM_024120.5(NDUFAF5):c.827G>A (p.Arg276Gln)
NM_024120.5(NDUFAF5):c.827G>C (p.Arg276Pro)
NM_024120.5(NDUFAF5):c.837G>A (p.Met279Ile)
NM_024120.5(NDUFAF5):c.848C>T (p.Ala283Val)
NM_024120.5(NDUFAF5):c.85delinsAA (p.Val29fs)
NM_024120.5(NDUFAF5):c.866T>C (p.Met289Thr)
NM_024120.5(NDUFAF5):c.877G>T (p.Glu293Ter)
NM_024120.5(NDUFAF5):c.926G>A (p.Trp309Ter)
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe) rs375461797
NM_024120.5(NDUFAF5):c.945+1G>A
NM_024120.5(NDUFAF5):c.946-2A>C
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.*3CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3CCG[5] rs3065757
NM_024407.5(NDUFS7):c.17-1167C>G rs1568985256
NM_024407.5(NDUFS7):c.256C>G (p.Leu86Val)
NM_024407.5(NDUFS7):c.304G>A (p.Asp102Asn)
NM_024407.5(NDUFS7):c.520G>A (p.Val174Met)
NM_024407.5(NDUFS7):c.537C>A (p.Tyr179Ter)
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025152.3(NUBPL):c.*1015C>A rs551958784
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.*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.*836C>G rs10147479
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.201A>G (p.Lys67=)
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) rs1595283708
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.308T>A (p.Leu103Ter)
NM_025152.3(NUBPL):c.349A>G (p.Met117Val) rs773620793
NM_025152.3(NUBPL):c.383-5dup rs35659584
NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)
NM_025152.3(NUBPL):c.423-1G>A rs863224123
NM_025152.3(NUBPL):c.468G>T (p.Trp156Cys)
NM_025152.3(NUBPL):c.514-19835C>A
NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter) rs1555338209
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) rs552722349
NM_025152.3(NUBPL):c.591_595del (p.Gln197fs) rs1313083001
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) rs879255565
NM_025152.3(NUBPL):c.893A>C (p.Asp298Ala)
NM_025152.3(NUBPL):c.90G>A (p.Ala30=) rs773747183
NM_032317.3(DNAJC30):c.130_131del (p.Ser44fs)
NM_032317.3(DNAJC30):c.227ACC[1] (p.His77del)
NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser) rs2116654445
NM_032317.3(DNAJC30):c.233C>G (p.Pro78Arg)
NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln) rs2116654140
NM_032317.3(DNAJC30):c.610G>T (p.Glu204Ter)
NM_032340.3(UQCC2):c.[23G>C;28C>T]
NM_032340.4(UQCC2):c.101G>A (p.Arg34Gln)
NM_032340.4(UQCC2):c.214-3C>G rs587777410
NM_032340.4(UQCC2):c.37T>C (p.Cys13Arg) rs1167742265
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
NM_032609.3(COX4I2):c.83-8_83-7del rs528430338
NM_032901.4(COX14):c.57G>A (p.Met19Ile) rs587776904
NM_078470.6(COX15):c.*1429_*1430del rs886046609
NM_078470.6(COX15):c.*2755del rs145731044
NM_078470.6(COX15):c.*3485dup rs11405417
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) rs769122836
NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val)
NM_145691.4(ATPAF2):c.*108C>T rs551939105
NM_145691.4(ATPAF2):c.*137C>T rs1346345212
NM_145691.4(ATPAF2):c.*194C>A rs143710995
NM_145691.4(ATPAF2):c.*26G>C rs2044417447
NM_145691.4(ATPAF2):c.*337T>C rs886052664
NM_145691.4(ATPAF2):c.*378A>T rs530700735
NM_145691.4(ATPAF2):c.-107G>T rs371822840
NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg) rs104894554
NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) rs759676953
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) rs1568572298
NM_145691.4(ATPAF2):c.480A>C (p.Pro160=) rs2044519018
NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly) rs141827488
NM_145691.4(ATPAF2):c.700G>A (p.Val234Met)
NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys) rs1131691631
NM_145691.4(ATPAF2):c.98del (p.Ile33fs) rs2044747934
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) rs1057519085
NM_152416.4(NDUFAF6):c.233_242dup (p.Glu82fs) rs863223932
NM_152416.4(NDUFAF6):c.239C>T (p.Pro80Leu)
NM_152416.4(NDUFAF6):c.266C>T (p.Ala89Val) rs2131775130
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) rs137853184
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_152416.4(NDUFAF6):c.420+1_420+2dup rs1829405389
NM_152416.4(NDUFAF6):c.420+2_420+3insTA rs1829405956
NM_152416.4(NDUFAF6):c.421-13_421-12del rs79118993
NM_152416.4(NDUFAF6):c.485del (p.Asn162fs) rs762093523
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs) rs1179490149
NM_152416.4(NDUFAF6):c.634G>A (p.Gly212Ser)
NM_152416.4(NDUFAF6):c.655G>C (p.Ala219Pro)
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) rs768273248
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) rs1057519086
NM_152416.4(NDUFAF6):c.907C>T (p.Arg303Ter)
NM_152416.4(NDUFAF6):c.967del (p.Tyr323fs)
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_174889.5(NDUFAF2):c.103del (p.Ile35fs) rs1554076324
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) rs1752321893
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_174889.5(NDUFAF2):c.263T>C (p.Ile88Thr)
NM_174889.5(NDUFAF2):c.36G>A (p.Trp12Ter)
NM_174889.5(NDUFAF2):c.50G>A (p.Arg17Lys)
NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter) rs1554076309
NM_175614.4(NDUFA11):c.*69_*70delGT rs755637853
NM_175614.4(NDUFA11):c.-205_-204CT[2] rs759857076
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.191-31G>A
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) rs1345378776
NM_175614.5(NDUFA11):c.65C>T (p.Ala22Val) rs748026968
NM_175614.5(NDUFA11):c.97+5G>A rs1348957889
NM_181705.4(LYRM7):c.120C>A (p.Phe40Leu) rs2149661849
NM_181705.4(LYRM7):c.128A>G (p.Asn43Ser)
NM_181705.4(LYRM7):c.142TCT[1] (p.Ser49del)
NM_181705.4(LYRM7):c.190TTA[3] (p.Leu66dup) rs869025603
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu) rs869025604
NM_181705.4(LYRM7):c.214C>T (p.Gln72Ter) rs869025604
NM_181705.4(LYRM7):c.244+5dup rs869025602
NM_181705.4(LYRM7):c.244+6T>G rs1755807014
NM_181705.4(LYRM7):c.245-1G>A
NM_181705.4(LYRM7):c.309del (p.Lys103fs)
NM_181705.4(LYRM7):c.37del (p.Thr13fs) rs869025605
NM_181705.4(LYRM7):c.73G>A (p.Asp25Asn) rs587777433
NM_198076.6(COX20):c.115T>C (p.Leu39=) rs1573315547
NM_198076.6(COX20):c.154A>C (p.Thr52Pro) rs587777004
NM_198076.6(COX20):c.185dup (p.Val63fs)
NM_198076.6(COX20):c.24T>C (p.Gly8=) rs915488593
NM_198076.6(COX20):c.259C>T (p.Gln87Ter) rs1680275439
NM_198076.6(COX20):c.334C>T (p.His112Tyr) rs2102976812
NM_198076.6(COX20):c.42+1G>A
NM_198076.6(COX20):c.7G>T (p.Ala3Ser) rs201152357
NM_198076.6(COX20):c.98C>T (p.Ser33Leu) rs1456182343
NM_199069.1(NDUFAF3):c.-118G>A rs886058666
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.112G>A (p.Asp38Asn) rs2093168573
NM_199069.2(NDUFAF3):c.127C>T (p.Gln43Ter)
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu) rs2093169670
NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg) rs121918134
NM_199069.2(NDUFAF3):c.302G>A (p.Ser101Asn)
NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) rs121918135
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.2(NDUFAF3):c.494C>T (p.Ala165Val) rs138275059
NM_199069.2(NDUFAF3):c.517G>A (p.Gly173Arg)
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) rs1378867079
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371
NM_199069.2(NDUFAF3):c.77+1G>A
NUBPL, 240-KB DEL AND 130-KB DUP
Single allele
TTC19, 4-BP DEL, 964GGCT
TTC19, TRP186TER
nsv1197507

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