NM_001303.3(COX10):c.-112G>A
|
rs6502330
|
0.99477
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
NM_004376.5(COX15):c.*3566C>T
|
rs2300983
|
0.83937
|
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)
|
rs31303
|
0.79100
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)
|
rs2083411
|
0.70392
|
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=)
|
rs6741066
|
0.69341
|
NM_174889.4(NDUFAF2):c.-97A>G
|
rs158922
|
0.66969
|
NM_000108.5(DLD):c.*487C>T
|
rs4518
|
0.66588
|
NM_000108.5(DLD):c.*978T>C
|
rs2158835
|
0.66205
|
NM_000108.5(DLD):c.*1451T>C
|
rs2108223
|
0.66202
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)
|
rs2279516
|
0.65985
|
NM_000108.5(DLD):c.*207G>A
|
rs4564
|
0.65906
|
NM_002291.3(LAMB1):c.5225-7C>T
|
rs3213673
|
0.64814
|
NM_133259.4(LRPPRC):c.*1665C>T
|
rs1139250
|
0.63748
|
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)
|
rs158921
|
0.63042
|
NM_133259.4(LRPPRC):c.2896+26C>T
|
rs4952694
|
0.61459
|
NM_133259.4(LRPPRC):c.2806-110C>A
|
rs4953039
|
0.60195
|
NM_004544.4(NDUFA10):c.*3450G>A
|
rs7573892
|
0.59554
|
NM_133259.4(LRPPRC):c.4128+37G>A
|
rs2955280
|
0.59328
|
NM_001303.4(COX10):c.699A>G (p.Pro233=)
|
rs2230354
|
0.55696
|
NM_004544.4(NDUFA10):c.*1957G>A
|
rs4854069
|
0.55325
|
NM_004376.6(COX15):c.-597A>C
|
rs2281636
|
0.54611
|
NM_004376.6(COX15):c.-435C>T
|
rs2231675
|
0.54408
|
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_133259.4(LRPPRC):c.2080-40A>C
|
rs7594526
|
0.50485
|
NM_001303.4(COX10):c.476G>A (p.Arg159Gln)
|
rs2072279
|
0.48875
|
NM_133259.4(LRPPRC):c.2296+27T>G
|
rs28394191
|
0.47876
|
NM_004589.4(SCO1):c.*722C>G
|
rs7512
|
0.46449
|
NM_002495.4(NDUFS4):c.*46G>A
|
rs567
|
0.42121
|
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)
|
rs13848
|
0.38961
|
NM_133259.4(LRPPRC):c.150-233G>T
|
rs4276071
|
0.36352
|
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)
|
rs1801318
|
0.34874
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
NM_000108.5(DLD):c.*1688G>A
|
rs8440
|
0.31157
|
NM_004544.4(NDUFA10):c.*1189C>T
|
rs66534347
|
0.30437
|
NM_004544.4(NDUFA10):c.*414G>A
|
rs13424612
|
0.28510
|
NM_004544.4(NDUFA10):c.*3204C>T
|
rs34277046
|
0.28460
|
NM_078470.6(COX15):c.*2649G>A
|
rs1128642
|
0.27557
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
NM_001303.4(COX10):c.*1385C>T
|
rs1050223
|
0.26244
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
NM_004168.3(SDHA):c.-115T>C
|
rs2303741
|
0.25160
|
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)
|
rs1139449
|
0.25156
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
NM_001303.4(COX10):c.*1078C>T
|
rs13183
|
0.23332
|
NM_001303.4(COX10):c.*297G>A
|
rs8076247
|
0.23328
|
NM_133259.4(LRPPRC):c.738-70T>C
|
rs17031786
|
0.21424
|
NM_133259.4(LRPPRC):c.1155+30A>G
|
rs7593842
|
0.21391
|
NM_133259.4(LRPPRC):c.1843-28T>G
|
rs72877186
|
0.21363
|
NM_133259.4(LRPPRC):c.1677+152G>A
|
rs59338949
|
0.19606
|
NM_002496.4(NDUFS8):c.*14C>T
|
rs1051806
|
0.18509
|
NM_001303.4(COX10):c.*371A>G
|
rs11078234
|
0.18397
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
NM_001303.4(COX10):c.*1076T>C
|
rs1050216
|
0.17502
|
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_133259.4(LRPPRC):c.1068A>G (p.Gln356=)
|
rs4953042
|
0.14931
|
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_000108.5(DLD):c.*28G>T
|
rs17154615
|
0.10964
|
NM_004544.4(NDUFA10):c.*2602C>T
|
rs58261980
|
0.10946
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
NM_133259.4(LRPPRC):c.3900+14C>T
|
rs3795859
|
0.10271
|
NM_078470.6(COX15):c.*3417T>C
|
rs10883407
|
0.09903
|
NM_133259.4(LRPPRC):c.3900+15C>T
|
rs76850904
|
0.09620
|
NM_004376.5(COX15):c.*3268A>C
|
rs1056844
|
0.09586
|
NM_133259.4(LRPPRC):c.3275+97T>C
|
rs17424482
|
0.08642
|
NM_004168.4(SDHA):c.1908+15C>T
|
rs34504623
|
0.08152
|
NM_133259.4(LRPPRC):c.*1458A>G
|
rs371572374
|
0.07783
|
NM_133259.4(LRPPRC):c.*556A>T
|
rs1136998
|
0.07663
|
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_133259.4(LRPPRC):c.149+57G>T
|
rs62135152
|
0.06847
|
NM_133259.4(LRPPRC):c.1582+28T>C
|
rs62135104
|
0.06827
|
NM_000156.6(GAMT):c.*311C>G
|
rs266811
|
0.06572
|
NM_001303.4(COX10):c.184A>T (p.Thr62Ser)
|
rs2230351
|
0.06303
|
NM_000108.5(DLD):c.684+7G>A
|
rs75123588
|
0.06110
|
NM_133259.3(LRPPRC):c.-45G>A
|
rs11124961
|
0.05742
|
NM_003172.4(SURF1):c.*118T>C
|
rs4962133
|
0.05734
|
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)
|
rs11548670
|
0.05713
|
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_004589.4(SCO1):c.172C>T (p.Pro58Ser)
|
rs1802083
|
0.05390
|
NM_004544.4(NDUFA10):c.*631C>T
|
rs10933622
|
0.05326
|
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=)
|
rs11227859
|
0.05117
|
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=)
|
rs10896187
|
0.05020
|
NM_003172.4(SURF1):c.280T>C (p.Leu94=)
|
rs28615629
|
0.04975
|
NC_000017.11:g.10697578C>A
|
rs2520169
|
0.04792
|
NM_133259.4(LRPPRC):c.1921-54A>T
|
rs35768060
|
0.04572
|
NM_000108.5(DLD):c.1351C>T (p.Leu451=)
|
rs1803921
|
0.04354
|
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_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_004544.4(NDUFA10):c.*3075T>G
|
rs7588974
|
0.03737
|
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=)
|
rs113012830
|
0.03541
|
NM_005006.7(NDUFS1):c.*733A>G
|
rs6707707
|
0.03241
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_133259.4(LRPPRC):c.3570-3C>T
|
rs35113761
|
0.02876
|
NM_005006.7(NDUFS1):c.*256C>T
|
rs10198830
|
0.02838
|
NM_005006.7(NDUFS1):c.551+14C>A
|
rs10206644
|
0.02838
|
NM_004376.5(COX15):c.*3661T>C
|
rs73345141
|
0.02836
|
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)
|
rs2230890
|
0.02835
|
NM_001303.4(COX10):c.1038G>A (p.Ser346=)
|
rs2230355
|
0.02804
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
NM_005006.7(NDUFS1):c.*158T>C
|
rs3770989
|
0.02543
|
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly)
|
rs114205971
|
0.02459
|
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_004544.4(NDUFA10):c.*3349G>A
|
rs77216981
|
0.02367
|
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)
|
rs35881858
|
0.02080
|
NM_004376.5(COX15):c.*4473T>C
|
rs10490941
|
0.02022
|
NM_001303.4(COX10):c.83C>T (p.Thr28Ile)
|
rs16948978
|
0.01976
|
NM_133259.4(LRPPRC):c.*2176A>T
|
rs73924082
|
0.01948
|
NM_004376.5(COX15):c.*3817A>G
|
rs76530337
|
0.01896
|
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala)
|
rs35035668
|
0.01872
|
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=)
|
rs77878573
|
0.01828
|
NM_133259.4(LRPPRC):c.*825A>G
|
rs17031753
|
0.01776
|
NM_001303.4(COX10):c.*438G>C
|
rs75823746
|
0.01767
|
NM_133259.4(LRPPRC):c.*1088G>C
|
rs79225555
|
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_001303.4(COX10):c.*1101C>T
|
rs75165393
|
0.01548
|
NM_002496.4(NDUFS8):c.-45A>C
|
rs4147776
|
0.01538
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
NM_004544.4(NDUFA10):c.*2511C>T
|
rs74540213
|
0.01512
|
NM_004168.4(SDHA):c.-4A>G
|
rs377134185
|
0.01501
|
NM_078470.6(COX15):c.*1693G>A
|
rs74981084
|
0.01485
|
NM_000108.5(DLD):c.*855C>T
|
rs116055514
|
0.01464
|
NM_133259.4(LRPPRC):c.*1435C>T
|
rs78163628
|
0.01439
|
NM_078470.6(COX15):c.*1876A>G
|
rs115287270
|
0.01433
|
NM_003172.4(SURF1):c.751+6T>C
|
rs41296099
|
0.01414
|
NM_004376.5(COX15):c.*4218C>T
|
rs138423739
|
0.01377
|
NM_133259.4(LRPPRC):c.*1371C>T
|
rs111381413
|
0.01377
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
NM_004589.4(SCO1):c.297A>G (p.Ala99=)
|
rs11538237
|
0.01326
|
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly)
|
rs116779216
|
0.01318
|
NM_004544.4(NDUFA10):c.*396C>G
|
rs73103629
|
0.01256
|
NM_004544.4(NDUFA10):c.*1217A>G
|
rs116403651
|
0.01210
|
NM_004376.5(COX15):c.*2640T>G
|
rs80332976
|
0.01155
|
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=)
|
rs4494798
|
0.01150
|
NM_004544.4(NDUFA10):c.*2133A>G
|
rs6736791
|
0.01130
|
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)
|
rs2230892
|
0.01121
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
NM_004544.4(NDUFA10):c.*1878C>T
|
rs80067639
|
0.01081
|
NM_001303.4(COX10):c.*1079G>A
|
rs116445114
|
0.01056
|
NM_024120.5(NDUFAF5):c.486T>C (p.His162=)
|
rs2273317
|
0.01050
|
NM_003172.4(SURF1):c.543C>T (p.Phe181=)
|
rs62637580
|
0.01036
|
NM_004544.4(NDUFA10):c.*3544C>T
|
rs114944621
|
0.01013
|
NM_005006.7(NDUFS1):c.*574T>G
|
rs73065790
|
0.01005
|
NM_000108.5(DLD):c.*648G>A
|
rs57801571
|
0.00985
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp)
|
rs113974315
|
0.00985
|
NM_133259.4(LRPPRC):c.*1343G>C
|
rs75002669
|
0.00947
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
NM_000108.5(DLD):c.*1300A>G
|
rs77095705
|
0.00939
|
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser)
|
rs35715497
|
0.00925
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
NM_078470.6(COX15):c.548G>A (p.Arg183His)
|
rs35483721
|
0.00915
|
NM_078470.6(COX15):c.*1197T>C
|
rs149696723
|
0.00897
|
NM_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
NM_004544.4(NDUFA10):c.*407C>T
|
rs74614612
|
0.00847
|
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=)
|
rs115993634
|
0.00825
|
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)
|
rs116727742
|
0.00819
|
NM_133259.4(LRPPRC):c.*734A>G
|
rs114517881
|
0.00810
|
NM_004544.4(NDUFA10):c.*647C>T
|
rs116254382
|
0.00794
|
NM_078470.6(COX15):c.-23G>T
|
rs2231678
|
0.00765
|
NM_004376.6(COX15):c.-149G>T
|
rs139698647
|
0.00745
|
NM_007103.3(NDUFV1):c.-74T>C
|
rs373383800
|
0.00728
|
NM_001303.4(COX10):c.682C>T (p.Arg228Cys)
|
rs114521946
|
0.00727
|
NM_004376.5(COX15):c.*2701C>T
|
rs114201692
|
0.00727
|
NM_004544.4(NDUFA10):c.*1453G>A
|
rs192964209
|
0.00706
|
NM_078470.6(COX15):c.*1591C>T
|
rs190369277
|
0.00705
|
NM_078470.6(COX15):c.*1590A>C
|
rs181768654
|
0.00704
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
NM_005006.7(NDUFS1):c.-75A>G
|
rs138818421
|
0.00612
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
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_000108.5(DLD):c.*887T>C
|
rs16872396
|
0.00569
|
NM_133259.4(LRPPRC):c.1736-14G>A
|
rs116117684
|
0.00552
|
NM_000108.5(DLD):c.*1074C>G
|
rs149275540
|
0.00531
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
NM_000108.5(DLD):c.*474T>C
|
rs16872391
|
0.00479
|
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)
|
rs144125742
|
0.00475
|
NM_004544.3(NDUFA10):c.-92C>T
|
rs559797625
|
0.00474
|
NM_133259.4(LRPPRC):c.*399G>A
|
rs149268737
|
0.00473
|
NM_001303.4(COX10):c.*305A>G
|
rs143758001
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_004544.3(NDUFA10):c.-93G>T
|
rs577432343
|
0.00460
|
NM_005006.7(NDUFS1):c.*341A>G
|
rs150214409
|
0.00460
|
NM_004168.4(SDHA):c.*249T>C
|
rs189989110
|
0.00459
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_020354.5(ENTPD7):c.*4789T>C
|
rs148302095
|
0.00414
|
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly)
|
rs115693730
|
0.00414
|
NM_133259.4(LRPPRC):c.*343C>T
|
rs144519599
|
0.00392
|
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)
|
rs147312193
|
0.00385
|
NM_078470.6(COX15):c.*3247T>C
|
rs74775778
|
0.00380
|
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_133259.4(LRPPRC):c.*1335T>C
|
rs76970610
|
0.00348
|
NM_004376.5(COX15):c.*3564C>T
|
rs12241912
|
0.00342
|
NM_001303.4(COX10):c.*1324C>T
|
rs75636595
|
0.00341
|
NM_004376.5(COX15):c.*3618A>G
|
rs76656125
|
0.00341
|
NM_004376.5(COX15):c.*2842T>C
|
rs11190252
|
0.00339
|
NM_003172.4(SURF1):c.834-13T>C
|
rs139870012
|
0.00318
|
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_004551.3(NDUFS3):c.591T>C (p.Pro197=)
|
rs77113494
|
0.00289
|
NM_004544.4(NDUFA10):c.*1943A>G
|
rs148829605
|
0.00283
|
NM_001303.4(COX10):c.*904C>G
|
rs75839697
|
0.00276
|
NM_003172.4(SURF1):c.54+10G>A
|
rs587598397
|
0.00276
|
NM_001303.4(COX10):c.*1148G>A
|
rs151138383
|
0.00272
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
NM_004544.4(NDUFA10):c.*1382C>T
|
rs111337344
|
0.00263
|
NM_078470.6(COX15):c.582+14A>G
|
rs79410539
|
0.00263
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_004168.4(SDHA):c.*133G>C
|
rs193112615
|
0.00255
|
NM_004544.4(NDUFA10):c.*546G>A
|
rs192485848
|
0.00252
|
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=)
|
rs139634347
|
0.00249
|
NM_003172.4(SURF1):c.*47G>A
|
rs138050767
|
0.00242
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser)
|
rs113374262
|
0.00239
|
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)
|
rs148331180
|
0.00237
|
NM_004544.4(NDUFA10):c.*372C>T
|
rs143693330
|
0.00222
|
NM_001303.4(COX10):c.929-7C>T
|
rs62052075
|
0.00220
|
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)
|
rs138941073
|
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_000108.5(DLD):c.*1640A>G
|
rs148148357
|
0.00209
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
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_024407.5(NDUFS7):c.153C>T (p.Ala51=)
|
rs140236960
|
0.00196
|
NM_004376.5(COX15):c.*3086G>T
|
rs1000984
|
0.00191
|
NM_004544.4(NDUFA10):c.*3141C>T
|
rs144864637
|
0.00185
|
NM_004376.6(COX15):c.-590G>A
|
rs191339901
|
0.00184
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_133259.4(LRPPRC):c.738-18T>C
|
rs189675905
|
0.00173
|
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)
|
rs148544177
|
0.00172
|
NM_004544.4(NDUFA10):c.*2242T>C
|
rs111969519
|
0.00170
|
NM_133259.4(LRPPRC):c.*1152C>G
|
rs562361644
|
0.00169
|
NM_004544.4(NDUFA10):c.548-9A>G
|
rs147876332
|
0.00166
|
NM_004376.5(COX15):c.*4110T>G
|
rs56206689
|
0.00164
|
NM_004376.5(COX15):c.*4435A>G
|
rs74152722
|
0.00163
|
NM_133259.4(LRPPRC):c.3148+12C>T
|
rs199684766
|
0.00153
|
NM_133259.4(LRPPRC):c.*1564G>A
|
rs142436911
|
0.00152
|
NM_133259.4(LRPPRC):c.3275+7G>A
|
rs111392631
|
0.00152
|
NM_004376.5(COX15):c.*3211G>A
|
rs548503022
|
0.00150
|
NM_078470.6(COX15):c.*1776T>A
|
rs145963002
|
0.00148
|
NM_004544.4(NDUFA10):c.*1198G>A
|
rs143353868
|
0.00145
|
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)
|
rs11540012
|
0.00143
|
NM_005006.7(NDUFS1):c.*561T>C
|
rs146538309
|
0.00141
|
NM_004544.4(NDUFA10):c.*1879G>A
|
rs143421241
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_133259.4(LRPPRC):c.*1981A>T
|
rs180886841
|
0.00129
|
NM_004376.6(COX15):c.-406C>G
|
rs11595470
|
0.00128
|
NM_007103.4(NDUFV1):c.*79C>T
|
rs76839099
|
0.00124
|
NM_004544.4(NDUFA10):c.*2202C>T
|
rs77614498
|
0.00120
|
NM_004544.4(NDUFA10):c.*2495C>T
|
rs78395168
|
0.00119
|
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=)
|
rs147000685
|
0.00118
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
NM_004544.4(NDUFA10):c.*1915G>A
|
rs144590599
|
0.00117
|
NM_007103.4(NDUFV1):c.72+15G>T
|
rs187400726
|
0.00109
|
NM_001079866.2(BCS1L):c.-14G>A
|
rs367721351
|
0.00103
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)
|
rs149201273
|
0.00100
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
NM_004544.4(NDUFA10):c.*3095A>G
|
rs576198967
|
0.00099
|
NM_001303.4(COX10):c.981C>T (p.Asn327=)
|
rs146175179
|
0.00098
|
NM_133259.4(LRPPRC):c.*1563C>T
|
rs186518252
|
0.00096
|
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=)
|
rs150859374
|
0.00093
|
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)
|
rs138061928
|
0.00093
|
NM_004544.4(NDUFA10):c.*2659A>C
|
rs559550890
|
0.00091
|
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly)
|
rs144732922
|
0.00091
|
NM_001303.4(COX10):c.93C>A (p.Asp31Glu)
|
rs141481210
|
0.00090
|
NM_133259.4(LRPPRC):c.*1872C>T
|
rs147686285
|
0.00090
|
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)
|
rs143722284
|
0.00089
|
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_133259.4(LRPPRC):c.*577G>T
|
rs183378286
|
0.00084
|
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)
|
rs140445386
|
0.00083
|
NM_024120.5(NDUFAF5):c.531T>C (p.Ile177=)
|
rs148689921
|
0.00083
|
NM_001303.4(COX10):c.302C>T (p.Pro101Leu)
|
rs145948285
|
0.00081
|
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
|
rs142658611
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_078470.6(COX15):c.*1851G>T
|
rs754063121
|
0.00080
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
NM_078470.6(COX15):c.*1850G>T
|
rs755134012
|
0.00073
|
NM_004544.4(NDUFA10):c.*3347C>T
|
rs537694779
|
0.00072
|
NM_024407.5(NDUFS7):c.*16C>T
|
rs573586959
|
0.00069
|
NM_078470.6(COX15):c.*2193A>T
|
rs557527426
|
0.00069
|
NM_078470.6(COX15):c.*1716G>A
|
rs186244558
|
0.00067
|
NM_003172.4(SURF1):c.54+9C>G
|
rs587675928
|
0.00066
|
NM_133259.4(LRPPRC):c.-11A>G
|
rs188424940
|
0.00066
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
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_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_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_001079866.2(BCS1L):c.-50+458T>G
|
rs188224298
|
0.00058
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)
|
rs139771078
|
0.00058
|
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)
|
rs144826521
|
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_004168.4(SDHA):c.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)
|
rs145347909
|
0.00055
|
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)
|
rs142499054
|
0.00055
|
NM_004544.4(NDUFA10):c.*1482C>G
|
rs557576958
|
0.00054
|
NM_152416.4(NDUFAF6):c.715-3C>A
|
rs200620409
|
0.00054
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
NM_005006.7(NDUFS1):c.*151T>C
|
rs533179154
|
0.00052
|
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=)
|
rs118188415
|
0.00052
|
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)
|
rs142368721
|
0.00051
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
NM_001303.4(COX10):c.909C>T (p.Ala303=)
|
rs370260574
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_005006.7(NDUFS1):c.*938C>T
|
rs780498090
|
0.00049
|
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)
|
rs185711494
|
0.00048
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_004544.4(NDUFA10):c.*2149C>T
|
rs570872300
|
0.00044
|
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg)
|
rs200818252
|
0.00041
|
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)
|
rs147302249
|
0.00041
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
NM_002496.4(NDUFS8):c.*44C>T
|
rs201815115
|
0.00040
|
NM_133259.4(LRPPRC):c.1842+10C>T
|
rs373649496
|
0.00040
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)
|
rs144200704
|
0.00039
|
NM_007103.4(NDUFV1):c.155+12C>T
|
rs199963966
|
0.00039
|
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys)
|
rs149243712
|
0.00039
|
NM_001303.4(COX10):c.*859G>T
|
rs974629254
|
0.00038
|
NM_002496.4(NDUFS8):c.200-14C>T
|
rs373128833
|
0.00038
|
NM_004376.7(COX15):c.-84G>A
|
rs574143521
|
0.00036
|
NM_004544.4(NDUFA10):c.*1992C>T
|
rs373034894
|
0.00036
|
NM_133259.4(LRPPRC):c.*1911G>A
|
rs533572540
|
0.00036
|
NM_004551.3(NDUFS3):c.381+6T>C
|
rs377579231
|
0.00035
|
NM_078470.6(COX15):c.*2060C>T
|
rs886046606
|
0.00035
|
NM_004551.3(NDUFS3):c.628-7C>T
|
rs11039306
|
0.00034
|
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)
|
rs137889316
|
0.00034
|
NM_078470.6(COX15):c.*2282G>A
|
rs762075313
|
0.00034
|
NM_133259.4(LRPPRC):c.1920+11A>G
|
rs373513189
|
0.00034
|
NM_004551.3(NDUFS3):c.*32G>A
|
rs189495301
|
0.00033
|
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)
|
rs146661281
|
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_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
NM_004544.3(NDUFA10):c.-87A>C
|
rs886055827
|
0.00031
|
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)
|
rs201806038
|
0.00031
|
NM_078470.6(COX15):c.*1309T>C
|
rs556850599
|
0.00031
|
NM_078470.6(COX15):c.929C>G (p.Pro310Arg)
|
rs138293000
|
0.00031
|
NM_133259.4(LRPPRC):c.*1584G>A
|
rs372330583
|
0.00031
|
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
|
rs121908576
|
0.00030
|
NM_003172.4(SURF1):c.687T>C (p.Tyr229=)
|
rs373154583
|
0.00030
|
NM_004376.5(COX15):c.*4392G>A
|
rs764641759
|
0.00030
|
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)
|
rs149718203
|
0.00030
|
NM_133259.4(LRPPRC):c.*2376C>G
|
rs886056040
|
0.00030
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)
|
rs150613320
|
0.00028
|
NM_003172.4(SURF1):c.833+13C>T
|
rs368685731
|
0.00027
|
NM_004544.4(NDUFA10):c.*679A>G
|
rs374065697
|
0.00027
|
NM_005002.5(NDUFA9):c.253C>T (p.Arg85Trp)
|
rs71579253
|
0.00026
|
NM_133259.4(LRPPRC):c.*1121G>T
|
rs371325663
|
0.00026
|
NM_133259.4(LRPPRC):c.*2289A>T
|
rs777772528
|
0.00026
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
NM_004168.4(SDHA):c.895+13G>A
|
rs201461936
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
NM_003172.4(SURF1):c.108G>A (p.Gly36=)
|
rs201675965
|
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_078470.6(COX15):c.*1594C>G
|
rs886046607
|
0.00024
|
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)
|
rs149693840
|
0.00024
|
NM_004376.5(COX15):c.*3800C>A
|
rs576990987
|
0.00023
|
NM_004376.6(COX15):c.-114A>G
|
rs539821050
|
0.00023
|
NM_004544.4(NDUFA10):c.*183C>T
|
rs112660586
|
0.00023
|
NM_005006.7(NDUFS1):c.-64T>C
|
rs145023130
|
0.00023
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_002496.4(NDUFS8):c.502-13C>T
|
rs199793417
|
0.00022
|
NM_004168.4(SDHA):c.-2A>T
|
rs763680697
|
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_018838.5(NDUFA12):c.278T>C (p.Met93Thr)
|
rs140235371
|
0.00022
|
NM_133259.4(LRPPRC):c.620A>T (p.Tyr207Phe)
|
rs146293544
|
0.00022
|
NM_001303.4(COX10):c.192G>A (p.Leu64=)
|
rs569444237
|
0.00021
|
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)
|
rs141187412
|
0.00021
|
NM_005006.7(NDUFS1):c.*966A>G
|
rs755776989
|
0.00021
|
NM_078470.6(COX15):c.664C>T (p.Arg222Cys)
|
rs2231682
|
0.00021
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
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_003172.4(SURF1):c.657G>A (p.Glu219=)
|
rs149494670
|
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_078470.6(COX15):c.*2745T>G
|
rs952880831
|
0.00019
|
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)
|
rs200017171
|
0.00019
|
NM_133259.4(LRPPRC):c.2210+10C>T
|
rs200747013
|
0.00019
|
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His)
|
rs745653250
|
0.00019
|
NM_005006.7(NDUFS1):c.1393-7T>A
|
rs200409285
|
0.00018
|
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)
|
rs148726142
|
0.00018
|
NM_001303.4(COX10):c.624+4A>G
|
rs199668725
|
0.00017
|
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser)
|
rs145615218
|
0.00017
|
NM_003172.4(SURF1):c.833+15G>A
|
rs202237153
|
0.00017
|
NM_133259.4(LRPPRC):c.*409C>G
|
rs187382374
|
0.00017
|
NM_133259.4(LRPPRC):c.1649+11C>T
|
rs200115839
|
0.00017
|
NM_152416.4(NDUFAF6):c.773T>C (p.Val258Ala)
|
rs745941126
|
0.00017
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
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_003172.4(SURF1):c.745A>G (p.Asn249Asp)
|
rs587669420
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
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_024407.5(NDUFS7):c.270C>T (p.Ala90=)
|
rs375120743
|
0.00016
|
NM_133259.4(LRPPRC):c.*2099C>A
|
rs771863074
|
0.00016
|
NM_133259.4(LRPPRC):c.*2192A>G
|
rs189755235
|
0.00016
|
NM_133259.4(LRPPRC):c.*2224A>C
|
rs757205247
|
0.00016
|
NM_133259.4(LRPPRC):c.*456G>C
|
rs886056052
|
0.00016
|
NM_133259.4(LRPPRC):c.1262-12T>C
|
rs149449510
|
0.00016
|
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=)
|
rs559176918
|
0.00016
|
NM_133259.4(LRPPRC):c.1583-14A>G
|
rs372371276
|
0.00016
|
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)
|
rs149323691
|
0.00015
|
NM_003172.4(SURF1):c.751+4C>T
|
rs782184113
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val)
|
rs546399905
|
0.00015
|
NM_000108.5(DLD):c.*739G>A
|
rs181103944
|
0.00014
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)
|
rs112329020
|
0.00014
|
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)
|
rs773850151
|
0.00014
|
NM_001303.4(COX10):c.1064G>A (p.Arg355His)
|
rs757204220
|
0.00014
|
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)
|
rs140243793
|
0.00014
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
NM_004544.4(NDUFA10):c.*389C>T
|
rs539829771
|
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_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)
|
rs200138144
|
0.00014
|
NM_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
NM_001303.4(COX10):c.*591_*592del
|
rs886052606
|
0.00013
|
NM_001303.4(COX10):c.*894G>T
|
rs573080780
|
0.00013
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
NM_004544.4(NDUFA10):c.*1057T>G
|
rs541016943
|
0.00013
|
NM_078470.6(COX15):c.*2857A>G
|
rs576268362
|
0.00013
|
NM_078470.6(COX15):c.131G>A (p.Ser44Asn)
|
rs141506146
|
0.00013
|
NM_078470.6(COX15):c.255T>C (p.Ile85=)
|
rs147881961
|
0.00013
|
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=)
|
rs373554506
|
0.00013
|
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)
|
rs199706677
|
0.00013
|
NM_004544.4(NDUFA10):c.*2111G>A
|
rs752139055
|
0.00012
|
NM_005006.7(NDUFS1):c.*27C>T
|
rs369746514
|
0.00012
|
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)
|
rs147710123
|
0.00012
|
NM_078470.6(COX15):c.*1362G>A
|
rs750145039
|
0.00012
|
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)
|
rs148302981
|
0.00011
|
NM_001303.4(COX10):c.*13G>A
|
rs371047487
|
0.00011
|
NM_004544.4(NDUFA10):c.*2649G>A
|
rs886055815
|
0.00011
|
NM_004544.4(NDUFA10):c.*3409G>A
|
rs146483651
|
0.00011
|
NM_078470.6(COX15):c.*2839G>T
|
rs1025606598
|
0.00011
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
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_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
NM_004168.4(SDHA):c.*189C>T
|
rs185107377
|
0.00010
|
NM_004376.5(COX15):c.*3411G>C
|
rs914156906
|
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_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser)
|
rs373908553
|
0.00010
|
NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp)
|
rs139192988
|
0.00010
|
NM_133259.4(LRPPRC):c.3901-6T>G
|
rs553466522
|
0.00010
|
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs)
|
rs759052246
|
0.00010
|
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val)
|
rs749629864
|
0.00010
|
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=)
|
rs762093225
|
0.00010
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
NM_003172.4(SURF1):c.17C>T (p.Ala6Val)
|
rs587727919
|
0.00009
|
NM_003172.4(SURF1):c.240+9C>T
|
rs376459836
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
NM_004376.5(COX15):c.*2742A>G
|
rs188328622
|
0.00009
|
NM_004544.4(NDUFA10):c.*3067C>T
|
rs564992184
|
0.00009
|
NM_004544.4(NDUFA10):c.*765C>T
|
rs144208727
|
0.00009
|
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)
|
rs138887128
|
0.00009
|
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)
|
rs773111037
|
0.00009
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)
|
rs372047256
|
0.00009
|
NM_017547.4(FOXRED1):c.20C>T (p.Pro7Leu)
|
rs141392346
|
0.00009
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_133259.4(LRPPRC):c.*1894C>T
|
rs563480210
|
0.00009
|
NM_133259.4(LRPPRC):c.*2245A>G
|
rs758080975
|
0.00009
|
NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys)
|
rs771473230
|
0.00009
|
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)
|
rs760016065
|
0.00009
|
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr)
|
rs142097048
|
0.00009
|
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)
|
rs199727887
|
0.00009
|
NM_003172.4(SURF1):c.720C>T (p.Gly240=)
|
rs200407815
|
0.00008
|
NM_003172.4(SURF1):c.833+14G>A
|
rs375695890
|
0.00008
|
NM_003172.4(SURF1):c.879C>T (p.Phe293=)
|
rs145088629
|
0.00008
|
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg)
|
rs201822068
|
0.00008
|
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)
|
rs746453879
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
NM_004376.6(COX15):c.-133T>C
|
rs566424487
|
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_078470.6(COX15):c.665G>A (p.Arg222His)
|
rs377568460
|
0.00008
|
NM_133259.4(LRPPRC):c.*996A>G
|
rs572718388
|
0.00008
|
NM_000108.5(DLD):c.*1505C>T
|
rs1053262850
|
0.00007
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
NM_002496.4(NDUFS8):c.502-10C>T
|
rs369961682
|
0.00007
|
NM_003172.4(SURF1):c.321C>T (p.Ala107=)
|
rs141425824
|
0.00007
|
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)
|
rs782623477
|
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_004589.4(SCO1):c.689C>T (p.Thr230Met)
|
rs141066877
|
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_078470.6(COX15):c.*3670G>A
|
rs886046600
|
0.00007
|
NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys)
|
rs1014582333
|
0.00007
|
NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu)
|
rs146630100
|
0.00007
|
NM_133259.4(LRPPRC):c.802G>C (p.Asp268His)
|
rs756849117
|
0.00007
|
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)
|
rs775605330
|
0.00007
|
NM_001303.4(COX10):c.-24G>A
|
rs201257809
|
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_002496.4(NDUFS8):c.597C>T (p.Ile199=)
|
rs1804688
|
0.00006
|
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)
|
rs578145610
|
0.00006
|
NM_003172.4(SURF1):c.240+5A>T
|
rs370901434
|
0.00006
|
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp)
|
rs201492662
|
0.00006
|
NM_003172.4(SURF1):c.807C>T (p.Asn269=)
|
rs150726485
|
0.00006
|
NM_003172.4(SURF1):c.825C>T (p.Ile275=)
|
rs372660779
|
0.00006
|
NM_004168.4(SDHA):c.*102G>A
|
rs1009017730
|
0.00006
|
NM_004376.5(COX15):c.*3470G>C
|
rs988381164
|
0.00006
|
NM_004376.6(COX15):c.-586C>T
|
rs186438310
|
0.00006
|
NM_004544.4(NDUFA10):c.*3205G>A
|
rs886055811
|
0.00006
|
NM_004544.4(NDUFA10):c.*361A>G
|
rs778261754
|
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_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_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)
|
rs769276632
|
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_024120.5(NDUFAF5):c.480-3T>G
|
rs749288299
|
0.00006
|
NM_024120.5(NDUFAF5):c.519+4A>G
|
rs373951216
|
0.00006
|
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)
|
rs199543540
|
0.00006
|
NM_024407.5(NDUFS7):c.52C>T (p.Arg18Cys)
|
rs769894226
|
0.00006
|
NM_133259.4(LRPPRC):c.*1372G>A
|
rs750310194
|
0.00006
|
NM_133259.4(LRPPRC):c.*1587C>T
|
rs886056046
|
0.00006
|
NM_133259.4(LRPPRC):c.*1653G>A
|
rs886056045
|
0.00006
|
NM_133259.4(LRPPRC):c.*518A>T
|
rs138559252
|
0.00006
|
NM_133259.4(LRPPRC):c.*667C>T
|
rs533028399
|
0.00006
|
NM_133259.4(LRPPRC):c.1009+15A>T
|
rs572849791
|
0.00006
|
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser)
|
rs763948159
|
0.00006
|
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His)
|
rs373011028
|
0.00006
|
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr)
|
rs370537508
|
0.00006
|
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=)
|
rs145105621
|
0.00006
|
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=)
|
rs148828179
|
0.00006
|
NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala)
|
rs143290138
|
0.00006
|
NM_174889.4(NDUFAF2):c.-66G>C
|
rs376045901
|
0.00006
|
NM_001079866.2(BCS1L):c.-85G>A
|
rs938140522
|
0.00005
|
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)
|
rs756932413
|
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_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_003172.4(SURF1):c.439C>T (p.Arg147Trp)
|
rs151258319
|
0.00005
|
NM_003172.4(SURF1):c.507C>T (p.Thr169=)
|
rs782614599
|
0.00005
|
NM_003172.4(SURF1):c.834-4C>T
|
rs375626121
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
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_004589.4(SCO1):c.640G>A (p.Ala214Thr)
|
rs145764824
|
0.00005
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
NM_133259.4(LRPPRC):c.*485C>T
|
rs886056051
|
0.00005
|
NM_133259.4(LRPPRC):c.1678-7T>C
|
rs201370020
|
0.00005
|
NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys)
|
rs375559765
|
0.00005
|
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)
|
rs769579395
|
0.00005
|
NM_000108.5(DLD):c.*1876G>A
|
rs142001971
|
0.00004
|
NM_001079866.2(BCS1L):c.-50+425T>C
|
rs886055625
|
0.00004
|
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)
|
rs201889294
|
0.00004
|
NM_001303.4(COX10):c.*535C>A
|
rs886052604
|
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_002495.4(NDUFS4):c.-22C>A
|
rs144843461
|
0.00004
|
NM_003172.4(SURF1):c.240+1G>T
|
rs781948238
|
0.00004
|
NM_003172.4(SURF1):c.324-11T>C
|
rs375398247
|
0.00004
|
NM_003172.4(SURF1):c.342T>A (p.Asn114Lys)
|
rs146580899
|
0.00004
|
NM_003172.4(SURF1):c.36G>A (p.Arg12=)
|
rs888052160
|
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_003172.4(SURF1):c.591T>A (p.Ile197=)
|
rs373355971
|
0.00004
|
NM_003172.4(SURF1):c.594G>A (p.Glu198=)
|
rs144427528
|
0.00004
|
NM_003172.4(SURF1):c.834-19G>A
|
rs1427282719
|
0.00004
|
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)
|
rs587776498
|
0.00004
|
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)
|
rs201341132
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004376.6(COX15):c.-265T>G
|
rs373242921
|
0.00004
|
NM_004376.6(COX15):c.-338C>T
|
rs751586131
|
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_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.579G>T (p.Leu193=)
|
rs376145746
|
0.00004
|
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)
|
rs765436915
|
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_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly)
|
rs201727988
|
0.00004
|
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn)
|
rs770063137
|
0.00004
|
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)
|
rs267606829
|
0.00004
|
NM_024120.5(NDUFAF5):c.529A>G (p.Ile177Val)
|
rs543144225
|
0.00004
|
NM_024120.5(NDUFAF5):c.668A>G (p.Asn223Ser)
|
rs371560528
|
0.00004
|
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)
|
rs565395435
|
0.00004
|
NM_024407.5(NDUFS7):c.455+13C>T
|
rs376025020
|
0.00004
|
NM_078470.6(COX15):c.*1122C>G
|
rs142892403
|
0.00004
|
NM_078470.6(COX15):c.*1349A>C
|
rs779762294
|
0.00004
|
NM_078470.6(COX15):c.*2167A>G
|
rs1487355609
|
0.00004
|
NM_078470.6(COX15):c.*2620C>T
|
rs1327045732
|
0.00004
|
NM_078470.6(COX15):c.*2850A>G
|
rs895123603
|
0.00004
|
NM_078470.6(COX15):c.*2898A>G
|
rs886046601
|
0.00004
|
NM_078470.6(COX15):c.164G>A (p.Arg55Lys)
|
rs777532861
|
0.00004
|
NM_078470.6(COX15):c.784C>T (p.Arg262Ter)
|
rs774366079
|
0.00004
|
NM_133259.4(LRPPRC):c.*218A>G
|
rs949524933
|
0.00004
|
NM_133259.4(LRPPRC):c.*2230A>C
|
rs866243257
|
0.00004
|
NM_133259.4(LRPPRC):c.*587C>T
|
rs760992842
|
0.00004
|
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)
|
rs886056063
|
0.00004
|
NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr)
|
rs148016991
|
0.00004
|
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser)
|
rs760756132
|
0.00004
|
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe)
|
rs779873239
|
0.00004
|
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=)
|
rs1052539943
|
0.00004
|
NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr)
|
rs200611889
|
0.00004
|
NM_133259.4(LRPPRC):c.3855G>C (p.Pro1285=)
|
rs571550652
|
0.00004
|
NM_133259.4(LRPPRC):c.3935C>G (p.Pro1312Arg)
|
rs747154844
|
0.00004
|
NM_133259.4(LRPPRC):c.3999T>C (p.Asp1333=)
|
rs202177904
|
0.00004
|
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala)
|
rs139493671
|
0.00004
|
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=)
|
rs766703715
|
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_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
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.44-3T>C
|
rs759643676
|
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_003172.4(SURF1):c.10G>A (p.Val4Met)
|
rs1169550986
|
0.00003
|
NM_003172.4(SURF1):c.328A>G (p.Met110Val)
|
rs782754332
|
0.00003
|
NM_003172.4(SURF1):c.514G>A (p.Gly172Arg)
|
rs1396233239
|
0.00003
|
NM_003172.4(SURF1):c.721G>A (p.Ala241Thr)
|
rs782157083
|
0.00003
|
NM_003172.4(SURF1):c.736A>G (p.Ile246Val)
|
rs782480169
|
0.00003
|
NM_003172.4(SURF1):c.752-4dup
|
rs1159512660
|
0.00003
|
NM_003172.4(SURF1):c.826G>A (p.Val276Met)
|
rs141561701
|
0.00003
|
NM_004168.4(SDHA):c.441C>T (p.Pro147=)
|
rs201453889
|
0.00003
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_004376.5(COX15):c.*3330A>G
|
rs769776249
|
0.00003
|
NM_004376.5(COX15):c.*3652A>G
|
rs1033966106
|
0.00003
|
NM_004376.5(COX15):c.*3729C>G
|
rs886046597
|
0.00003
|
NM_004376.5(COX15):c.*4181C>A
|
rs1009446425
|
0.00003
|
NM_004376.6(COX15):c.-142A>C
|
rs560024737
|
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_004589.4(SCO1):c.*80A>G
|
rs1338702106
|
0.00003
|
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln)
|
rs746265672
|
0.00003
|
NM_005006.7(NDUFS1):c.-61G>C
|
rs367762150
|
0.00003
|
NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)
|
rs751150787
|
0.00003
|
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)
|
rs774332882
|
0.00003
|
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)
|
rs755312472
|
0.00003
|
NM_007103.4(NDUFV1):c.843T>C (p.His281=)
|
rs766555879
|
0.00003
|
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)
|
rs141758325
|
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_078470.6(COX15):c.*2594T>G
|
rs1470572029
|
0.00003
|
NM_133259.4(LRPPRC):c.*110G>A
|
rs997583952
|
0.00003
|
NM_133259.4(LRPPRC):c.*1816T>C
|
rs886056043
|
0.00003
|
NM_133259.4(LRPPRC):c.*1961T>C
|
rs541683193
|
0.00003
|
NM_133259.4(LRPPRC):c.-19C>G
|
rs574328970
|
0.00003
|
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val)
|
rs368164663
|
0.00003
|
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly)
|
rs886056062
|
0.00003
|
NM_133259.4(LRPPRC):c.1369+5G>A
|
rs199628926
|
0.00003
|
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=)
|
rs187590711
|
0.00003
|
NM_133259.4(LRPPRC):c.442A>C (p.Arg148=)
|
rs138378033
|
0.00003
|
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)
|
rs187584458
|
0.00003
|
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)
|
rs201732170
|
0.00003
|
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)
|
rs770172045
|
0.00003
|
NM_000108.5(DLD):c.*355A>G
|
rs886061910
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
|
rs967089304
|
0.00002
|
NM_000108.5(DLD):c.677T>C (p.Val226Ala)
|
rs750449027
|
0.00002
|
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)
|
rs778120270
|
0.00002
|
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)
|
rs754142863
|
0.00002
|
NM_001303.4(COX10):c.1169C>T (p.Ala390Val)
|
rs749603596
|
0.00002
|
NM_001303.4(COX10):c.736C>T (p.Pro246Ser)
|
rs777697759
|
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_003172.4(SURF1):c.409C>T (p.Arg137Trp)
|
rs373551988
|
0.00002
|
NM_003172.4(SURF1):c.437C>T (p.Ala146Val)
|
rs140443050
|
0.00002
|
NM_003172.4(SURF1):c.447C>T (p.Gly149=)
|
rs782511878
|
0.00002
|
NM_003172.4(SURF1):c.516-2A>G
|
rs782682492
|
0.00002
|
NM_003172.4(SURF1):c.516-8T>C
|
rs374829956
|
0.00002
|
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)
|
rs147816470
|
0.00002
|
NM_003172.4(SURF1):c.589-9C>G
|
rs375758001
|
0.00002
|
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala)
|
rs147165855
|
0.00002
|
NM_003172.4(SURF1):c.834-5C>T
|
rs370520197
|
0.00002
|
NM_003172.4(SURF1):c.84C>T (p.Val28=)
|
rs1196351868
|
0.00002
|
NM_003172.4(SURF1):c.897del (p.Val300fs)
|
rs782010013
|
0.00002
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)
|
rs758252610
|
0.00002
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
NM_004376.5(COX15):c.*4212G>A
|
rs1381915856
|
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_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.771+3G>C
|
rs376237477
|
0.00002
|
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr)
|
rs886055502
|
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.365C>T (p.Pro122Leu)
|
rs750831299
|
0.00002
|
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)
|
rs200756131
|
0.00002
|
NM_024120.5(NDUFAF5):c.603A>G (p.Leu201=)
|
rs1428331700
|
0.00002
|
NM_024120.5(NDUFAF5):c.760T>C (p.Leu254=)
|
rs1209161635
|
0.00002
|
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)
|
rs761389904
|
0.00002
|
NM_078470.6(COX15):c.*2959G>C
|
rs984578663
|
0.00002
|
NM_078470.6(COX15):c.841G>A (p.Val281Met)
|
rs201703572
|
0.00002
|
NM_078470.6(COX15):c.84A>G (p.Arg28=)
|
rs370595065
|
0.00002
|
NM_133259.4(LRPPRC):c.*1895G>A
|
rs886056042
|
0.00002
|
NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=)
|
rs768509632
|
0.00002
|
NM_133259.4(LRPPRC):c.108C>T (p.Ala36=)
|
rs751637061
|
0.00002
|
NM_133259.4(LRPPRC):c.111C>T (p.Ala37=)
|
rs975809121
|
0.00002
|
NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp)
|
rs754771907
|
0.00002
|
NM_133259.4(LRPPRC):c.1578A>G (p.Ser526=)
|
rs775445022
|
0.00002
|
NM_133259.4(LRPPRC):c.1677+7C>T
|
rs374995996
|
0.00002
|
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)
|
rs750526576
|
0.00002
|
NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu)
|
rs372341254
|
0.00002
|
NM_133259.4(LRPPRC):c.2079+10G>A
|
rs545497810
|
0.00002
|
NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=)
|
rs765813800
|
0.00002
|
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=)
|
rs570349090
|
0.00002
|
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)
|
rs886056064
|
0.00002
|
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)
|
rs779872068
|
0.00002
|
NM_000108.5(DLD):c.*1401G>T
|
rs1266926415
|
0.00001
|
NM_000108.5(DLD):c.*1724C>G
|
rs886061913
|
0.00001
|
NM_000108.5(DLD):c.*225C>T
|
rs553824101
|
0.00001
|
NM_000108.5(DLD):c.*394A>G
|
rs1246423607
|
0.00001
|
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)
|
rs766396602
|
0.00001
|
NM_000108.5(DLD):c.117G>A (p.Pro39=)
|
rs751621846
|
0.00001
|
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)
|
rs886061907
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_001079866.2(BCS1L):c.258T>C (p.His86=)
|
rs886055627
|
0.00001
|
NM_001079866.2(BCS1L):c.321-12G>A
|
rs776363896
|
0.00001
|
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)
|
rs121908577
|
0.00001
|
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)
|
rs781666793
|
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.870G>A (p.Val290=)
|
rs1189180230
|
0.00001
|
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
|
rs747359752
|
0.00001
|
NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly)
|
rs1425486695
|
0.00001
|
NM_002495.4(NDUFS4):c.73C>T (p.Leu25Phe)
|
rs776441221
|
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.236C>T (p.Pro79Leu)
|
rs28939679
|
0.00001
|
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)
|
rs748754134
|
0.00001
|
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)
|
rs764276946
|
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.106+15C>G
|
rs781892153
|
0.00001
|
NM_003172.4(SURF1):c.107-14G>A
|
rs782090285
|
0.00001
|
NM_003172.4(SURF1):c.107-19G>A
|
rs782610286
|
0.00001
|
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp)
|
rs781831910
|
0.00001
|
NM_003172.4(SURF1):c.169G>A (p.Glu57Lys)
|
rs782410389
|
0.00001
|
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg)
|
rs782125974
|
0.00001
|
NM_003172.4(SURF1):c.225C>T (p.Gly75=)
|
rs948692485
|
0.00001
|
NM_003172.4(SURF1):c.228G>A (p.Leu76=)
|
rs1334031754
|
0.00001
|
NM_003172.4(SURF1):c.240+10G>A
|
rs782763797
|
0.00001
|
NM_003172.4(SURF1):c.241-20C>T
|
rs368476982
|
0.00001
|
NM_003172.4(SURF1):c.241-7A>C
|
rs997493975
|
0.00001
|
NM_003172.4(SURF1):c.248G>A (p.Arg83His)
|
rs1370356387
|
0.00001
|
NM_003172.4(SURF1):c.251G>A (p.Arg84Gln)
|
rs782044026
|
0.00001
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
NM_003172.4(SURF1):c.309C>T (p.Val103=)
|
rs782203738
|
0.00001
|
NM_003172.4(SURF1):c.323+15G>C
|
rs1836518077
|
0.00001
|
NM_003172.4(SURF1):c.324-5T>C
|
rs140805315
|
0.00001
|
NM_003172.4(SURF1):c.335T>C (p.Leu112Pro)
|
rs782811025
|
0.00001
|
NM_003172.4(SURF1):c.366C>T (p.Val122=)
|
rs886063630
|
0.00001
|
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr)
|
rs863224224
|
0.00001
|
NM_003172.4(SURF1):c.412A>C (p.Thr138Pro)
|
rs1227317118
|
0.00001
|
NM_003172.4(SURF1):c.448G>A (p.Gly150Ser)
|
rs1371101979
|
0.00001
|
NM_003172.4(SURF1):c.461C>T (p.Ser154Phe)
|
rs1392714895
|
0.00001
|
NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)
|
rs782214884
|
0.00001
|
NM_003172.4(SURF1):c.544G>A (p.Val182Ile)
|
rs782638354
|
0.00001
|
NM_003172.4(SURF1):c.56C>T (p.Ala19Val)
|
rs980771108
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003172.4(SURF1):c.57C>T (p.Ala19=)
|
rs1353326189
|
0.00001
|
NM_003172.4(SURF1):c.603G>A (p.Val201=)
|
rs782635006
|
0.00001
|
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile)
|
rs1836455088
|
0.00001
|
NM_003172.4(SURF1):c.649G>A (p.Val217Ile)
|
rs1836454464
|
0.00001
|
NM_003172.4(SURF1):c.708C>A (p.Ala236=)
|
rs782596103
|
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.751+9T>C
|
rs782649117
|
0.00001
|
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)
|
rs121918657
|
0.00001
|
NM_003172.4(SURF1):c.752-1G>C
|
rs1391748504
|
0.00001
|
NM_003172.4(SURF1):c.752-4A>C
|
rs1458022944
|
0.00001
|
NM_003172.4(SURF1):c.801G>A (p.Leu267=)
|
rs782120692
|
0.00001
|
NM_003172.4(SURF1):c.804G>C (p.Arg268Ser)
|
rs781880723
|
0.00001
|
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys)
|
rs781924765
|
0.00001
|
NM_003172.4(SURF1):c.81C>A (p.Ser27Arg)
|
rs1416119624
|
0.00001
|
NM_003172.4(SURF1):c.833+11A>G
|
rs1036443876
|
0.00001
|
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)
|
rs782601312
|
0.00001
|
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys)
|
rs587758543
|
0.00001
|
NM_003172.4(SURF1):c.850G>A (p.Ala284Thr)
|
rs781902619
|
0.00001
|
NM_003172.4(SURF1):c.865T>G (p.Trp289Gly)
|
rs373591762
|
0.00001
|
NM_003172.4(SURF1):c.889A>C (p.Thr297Pro)
|
rs782620122
|
0.00001
|
NM_003172.4(SURF1):c.897T>C (p.Gly299=)
|
rs76574453
|
0.00001
|
NM_003172.4(SURF1):c.900G>C (p.Val300=)
|
rs781873188
|
0.00001
|
NM_004168.3(SDHA):c.-63G>A
|
rs886060513
|
0.00001
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)
|
rs778667374
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.558C>T (p.Ala186=)
|
rs199618059
|
0.00001
|
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg)
|
rs41495051
|
0.00001
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
NM_004168.4(SDHA):c.896-11G>T
|
rs774043076
|
0.00001
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
NM_004376.5(COX15):c.*2841G>A
|
rs886046599
|
0.00001
|
NM_004376.5(COX15):c.*4152C>T
|
rs886046595
|
0.00001
|
NM_004376.6(COX15):c.-307C>G
|
rs886046614
|
0.00001
|
NM_004376.6(COX15):c.-472T>C
|
rs550813748
|
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.1000-12358G>A
|
rs1265529467
|
0.00001
|
NM_004544.4(NDUFA10):c.460+5A>G
|
rs1158773739
|
0.00001
|
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=)
|
rs980893132
|
0.00001
|
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr)
|
rs1188020120
|
0.00001
|
NM_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.425G>A (p.Arg142His)
|
rs780005953
|
0.00001
|
NM_004551.3(NDUFS3):c.657G>A (p.Val219=)
|
rs377323760
|
0.00001
|
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His)
|
rs201371939
|
0.00001
|
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)
|
rs770306617
|
0.00001
|
NM_004589.4(SCO1):c.*127A>G
|
rs779082082
|
0.00001
|
NM_004589.4(SCO1):c.*526T>C
|
rs2074615394
|
0.00001
|
NM_004589.4(SCO1):c.167G>A (p.Gly56Glu)
|
rs374849575
|
0.00001
|
NM_004589.4(SCO1):c.29G>T (p.Arg10Leu)
|
rs770075115
|
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_005002.5(NDUFA9):c.142C>T (p.Arg48Cys)
|
rs145275641
|
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.1256G>A (p.Arg419Gln)
|
rs776114731
|
0.00001
|
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val)
|
rs758095913
|
0.00001
|
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)
|
rs1434275816
|
0.00001
|
NM_005006.7(NDUFS1):c.261+6T>C
|
rs748906579
|
0.00001
|
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)
|
rs780235386
|
0.00001
|
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu)
|
rs757139275
|
0.00001
|
NM_005006.7(NDUFS1):c.63T>C (p.Val21=)
|
rs756632601
|
0.00001
|
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=)
|
rs371426372
|
0.00001
|
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu)
|
rs201727252
|
0.00001
|
NM_007103.4(NDUFV1):c.1308+7A>T
|
rs767679135
|
0.00001
|
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr)
|
rs757486575
|
0.00001
|
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=)
|
rs148461900
|
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_015965.7(NDUFA13):c.107T>C (p.Leu36Pro)
|
rs2061098856
|
0.00001
|
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)
|
rs1555066709
|
0.00001
|
NM_017547.4(FOXRED1):c.734-1G>C
|
rs1296948086
|
0.00001
|
NM_018060.4(IARS2):c.2669T>G (p.Leu890Arg)
|
rs1409898715
|
0.00001
|
NM_023936.1(MRPS34):c.321+1G>T
|
rs1161932777
|
0.00001
|
NM_024120.5(NDUFAF5):c.1024A>G (p.Lys342Glu)
|
rs769458895
|
0.00001
|
NM_024120.5(NDUFAF5):c.251A>G (p.Tyr84Cys)
|
rs755888652
|
0.00001
|
NM_024120.5(NDUFAF5):c.524A>G (p.His175Arg)
|
rs145095925
|
0.00001
|
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)
|
rs368690277
|
0.00001
|
NM_024120.5(NDUFAF5):c.678A>C (p.Gly226=)
|
rs143253877
|
0.00001
|
NM_024120.5(NDUFAF5):c.93T>C (p.Ser31=)
|
rs1490110004
|
0.00001
|
NM_024407.5(NDUFS7):c.*8G>A
|
rs756081375
|
0.00001
|
NM_024407.5(NDUFS7):c.*94G>A
|
rs1329105128
|
0.00001
|
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)
|
rs201222388
|
0.00001
|
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)
|
rs1193585808
|
0.00001
|
NM_078470.6(COX15):c.*1474C>T
|
rs886046608
|
0.00001
|
NM_078470.6(COX15):c.*2701A>G
|
rs886046602
|
0.00001
|
NM_078470.6(COX15):c.161G>A (p.Gly54Glu)
|
rs781108007
|
0.00001
|
NM_078470.6(COX15):c.293C>T (p.Ser98Leu)
|
rs1315877896
|
0.00001
|
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)
|
rs778412019
|
0.00001
|
NM_078470.6(COX15):c.495G>T (p.Leu165=)
|
rs2036978379
|
0.00001
|
NM_078470.6(COX15):c.832+9C>T
|
rs777349150
|
0.00001
|
NM_133259.4(LRPPRC):c.*1370G>A
|
rs1319087266
|
0.00001
|
NM_133259.4(LRPPRC):c.*1719G>A
|
rs1670288640
|
0.00001
|
NM_133259.4(LRPPRC):c.*2277A>G
|
rs886056041
|
0.00001
|
NM_133259.4(LRPPRC):c.*420C>T
|
rs1354819175
|
0.00001
|
NM_133259.4(LRPPRC):c.*534G>T
|
rs553327890
|
0.00001
|
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
|
rs119466000
|
0.00001
|
NM_133259.4(LRPPRC):c.1236T>C (p.His412=)
|
rs764634151
|
0.00001
|
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=)
|
rs886056059
|
0.00001
|
NM_133259.4(LRPPRC):c.1488+8C>G
|
rs772715775
|
0.00001
|
NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val)
|
rs1294325794
|
0.00001
|
NM_133259.4(LRPPRC):c.1582+7A>G
|
rs863225446
|
0.00001
|
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=)
|
rs1352013098
|
0.00001
|
NM_133259.4(LRPPRC):c.1649+8G>A
|
rs370119141
|
0.00001
|
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)
|
rs774934005
|
0.00001
|
NM_133259.4(LRPPRC):c.1765A>T (p.Ile589Phe)
|
rs760086210
|
0.00001
|
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys)
|
rs762224854
|
0.00001
|
NM_133259.4(LRPPRC):c.1921-7A>G
|
rs779696239
|
0.00001
|
NM_133259.4(LRPPRC):c.1998C>T (p.Ser666=)
|
rs1421341249
|
0.00001
|
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His)
|
rs187274438
|
0.00001
|
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter)
|
rs758615834
|
0.00001
|
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)
|
rs886056056
|
0.00001
|
NM_133259.4(LRPPRC):c.244C>T (p.Gln82Ter)
|
rs754855090
|
0.00001
|
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)
|
rs1453934366
|
0.00001
|
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)
|
rs1166980943
|
0.00001
|
NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=)
|
rs755280196
|
0.00001
|
NM_133259.4(LRPPRC):c.3364+6T>A
|
rs543620356
|
0.00001
|
NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr)
|
rs911047642
|
0.00001
|
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)
|
rs140482502
|
0.00001
|
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=)
|
rs370683872
|
0.00001
|
NM_133259.4(LRPPRC):c.3673G>C (p.Val1225Leu)
|
rs776488880
|
0.00001
|
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser)
|
rs886056054
|
0.00001
|
NM_133259.4(LRPPRC):c.4128+1G>A
|
rs1475772376
|
0.00001
|
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)
|
rs1163476569
|
0.00001
|
NM_133259.4(LRPPRC):c.650+1G>C
|
rs1249427615
|
0.00001
|
NM_133259.4(LRPPRC):c.777A>G (p.Arg259=)
|
rs749089358
|
0.00001
|
NM_133259.4(LRPPRC):c.864+2T>C
|
rs863224053
|
0.00001
|
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val)
|
rs886056065
|
0.00001
|
NM_152416.4(NDUFAF6):c.116C>T (p.Pro39Leu)
|
rs753206462
|
0.00001
|
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)
|
rs753873681
|
0.00001
|
NM_152416.4(NDUFAF6):c.92C>G (p.Ala31Gly)
|
rs897029989
|
0.00001
|
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)
|
rs773988847
|
0.00001
|
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)
|
rs886060726
|
0.00001
|
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)
|
rs772294726
|
0.00001
|
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x1
|
|
|
LRPPRC, 8-BP DEL, EXON 35
|
|
|
NC_000002.12:g.43986415_44009956del
|
|
|
NC_000005.9:g.(60241210_60368951)_(60448865_?)del
|
|
|
NC_000005.9:g.(?_60240955)_(60241210_60368951)del
|
|
|
NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del
|
|
|
NC_000009.11:g.(?_135139626)_(140034216_?)dup
|
|
|
NC_000009.11:g.(?_136223104)_(136223329_?)dup
|
|
|
NC_000009.12:g.133352139CT[1]
|
|
|
NC_000009.12:g.133352606_133352609del
|
|
|
NC_000009.12:g.133354954_133354958del
|
|
|
NC_000011.9:g.(67377107_67377851)_(67380013_?)del
|
|
|
NC_000011.9:g.(67378042_67378465)_(67380013_?)del
|
|
|
NC_012920.1(MT-ATP6):m.8573G>A
|
rs1603221592
|
|
NC_012920.1(MT-ATP6):m.8576T>C
|
rs1603221596
|
|
NC_012920.1(MT-ATP6):m.8578C>T
|
rs1556423492
|
|
NC_012920.1(MT-ATP6):m.8581G>A
|
rs1603221602
|
|
NC_012920.1(MT-ATP6):m.8582C>T
|
rs1556423493
|
|
NC_012920.1(MT-ATP6):m.8584G>A
|
rs3135028
|
|
NC_012920.1(MT-ATP6):m.8588T>C
|
rs1603221606
|
|
NC_012920.1(MT-ATP6):m.8591T>C
|
rs1603221609
|
|
NC_012920.1(MT-ATP6):m.8593A>G
|
rs1603221612
|
|
NC_012920.1(MT-ATP6):m.8596A>G
|
rs1603221617
|
|
NC_012920.1(MT-ATP6):m.8597T>C
|
rs1603221620
|
|
NC_012920.1(MT-ATP6):m.8599C>A
|
rs1603221623
|
|
NC_012920.1(MT-ATP6):m.8602T>C
|
rs1556423501
|
|
NC_012920.1(MT-ATP6):m.8603T>C
|
rs1603221627
|
|
NC_012920.1(MT-ATP6):m.8605C>T
|
rs1603221630
|
|
NC_012920.1(MT-ATP6):m.8609C>T
|
rs1603221634
|
|
NC_012920.1(MT-ATP6):m.8612T>C
|
rs1603221635
|
|
NC_012920.1(MT-ATP6):m.8615T>C
|
rs1603221637
|
|
NC_012920.1(MT-ATP6):m.8616G>T
|
rs41427749
|
|
NC_012920.1(MT-ATP6):m.8617A>G
|
rs1603221641
|
|
NC_012920.1(MT-ATP6):m.8618T>C
|
rs28358885
|
|
NC_012920.1(MT-ATP6):m.8623A>C
|
rs1603221645
|
|
NC_012920.1(MT-ATP6):m.8623A>G
|
rs1603221645
|
|
NC_012920.1(MT-ATP6):m.8623A>T
|
rs1603221645
|
|
NC_012920.1(MT-ATP6):m.8624C>T
|
rs1603221647
|
|
NC_012920.1(MT-ATP6):m.8626T>C
|
rs1603221648
|
|
NC_012920.1(MT-ATP6):m.8632T>C
|
rs1603221654
|
|
NC_012920.1(MT-ATP6):m.8635C>T
|
rs1603221661
|
|
NC_012920.1(MT-ATP6):m.8638A>G
|
rs1556423508
|
|
NC_012920.1(MT-ATP6):m.8639T>C
|
rs200047468
|
|
NC_012920.1(MT-ATP6):m.8641A>G
|
rs1603221662
|
|
NC_012920.1(MT-ATP6):m.8642A>C
|
rs1603221663
|
|
NC_012920.1(MT-ATP6):m.8642A>G
|
rs1603221663
|
|
NC_012920.1(MT-ATP6):m.8648G>A
|
rs28479867
|
|
NC_012920.1(MT-ATP6):m.8651T>C
|
rs1556423512
|
|
NC_012920.1(MT-ATP6):m.8653A>G
|
rs1603221669
|
|
NC_012920.1(MT-ATP6):m.8654T>C
|
rs200811540
|
|
NC_012920.1(MT-ATP6):m.8656A>G
|
rs1603221673
|
|
NC_012920.1(MT-ATP6):m.8657C>T
|
rs1603221675
|
|
NC_012920.1(MT-ATP6):m.8659A>G
|
rs879150284
|
|
NC_012920.1(MT-ATP6):m.8666A>G
|
rs1603221681
|
|
NC_012920.1(MT-ATP6):m.8668T>C
|
rs1603221688
|
|
NC_012920.1(MT-ATP6):m.8679A>C
|
rs386829045
|
|
NC_012920.1(MT-ATP6):m.8681T>C
|
rs1603221696
|
|
NC_012920.1(MT-ATP6):m.8683A>G
|
rs1603221698
|
|
NC_012920.1(MT-ATP6):m.8684C>T
|
rs201336180
|
|
NC_012920.1(MT-ATP6):m.8686T>C
|
rs1569484231
|
|
NC_012920.1(MT-ATP6):m.8697G>T
|
rs879233543
|
|
NC_012920.1(MT-ATP6):m.8699T>C
|
rs1603221710
|
|
NC_012920.1(MT-ATP6):m.8700A>T
|
rs1603221711
|
|
NC_012920.1(MT-ATP6):m.8701A>G
|
rs2000975
|
|
NC_012920.1(MT-ATP6):m.8702C>T
|
rs1603221713
|
|
NC_012920.1(MT-ATP6):m.8704A>G
|
rs878852994
|
|
NC_012920.1(MT-ATP6):m.8705T>C
|
rs878959404
|
|
NC_012920.1(MT-ATP6):m.8711A>G
|
rs1556423524
|
|
NC_012920.1(MT-ATP6):m.8713A>G
|
rs1603221721
|
|
NC_012920.1(MT-ATP6):m.8714C>T
|
rs1603221724
|
|
NC_012920.1(MT-ATP6):m.8720G>A
|
rs1603221728
|
|
NC_012920.1(MT-ATP6):m.8720G>C
|
rs1603221728
|
|
NC_012920.1(MT-ATP6):m.8722C>T
|
rs1603221733
|
|
NC_012920.1(MT-ATP6):m.8723G>A
|
rs1603221734
|
|
NC_012920.1(MT-ATP6):m.8725A>G
|
rs879216744
|
|
NC_012920.1(MT-ATP6):m.8728T>C
|
rs1603221742
|
|
NC_012920.1(MT-ATP6):m.8731T>A
|
rs1603221746
|
|
NC_012920.1(MT-ATP6):m.8735T>C
|
rs1603221752
|
|
NC_012920.1(MT-ATP6):m.8737A>G
|
rs1603221754
|
|
NC_012920.1(MT-ATP6):m.8744T>C
|
rs1603221756
|
|
NC_012920.1(MT-ATP6):m.8746T>C
|
rs1603221761
|
|
NC_012920.1(MT-ATP6):m.8750T>C
|
rs1603221765
|
|
NC_012920.1(MT-ATP6):m.8752A>G
|
rs1603221770
|
|
NC_012920.1(MT-ATP6):m.8756T>C
|
rs1556423532
|
|
NC_012920.1(MT-ATP6):m.8761A>C
|
rs1603221776
|
|
NC_012920.1(MT-ATP6):m.8762T>C
|
rs1603221778
|
|
NC_012920.1(MT-ATP6):m.8764G>A
|
rs1556423534
|
|
NC_012920.1(MT-ATP6):m.8765C>T
|
rs1603221781
|
|
NC_012920.1(MT-ATP6):m.8767A>G
|
rs1603221783
|
|
NC_012920.1(MT-ATP6):m.8768C>T
|
rs386829048
|
|
NC_012920.1(MT-ATP6):m.8782G>A
|
rs1603221801
|
|
NC_012920.1(MT-ATP6):m.8783G>A
|
rs1603221804
|
|
NC_012920.1(MT-ATP6):m.8785C>G
|
rs1603221807
|
|
NC_012920.1(MT-ATP6):m.8785C>T
|
rs1603221807
|
|
NC_012920.1(MT-ATP6):m.8789T>C
|
rs1603221811
|
|
NC_012920.1(MT-ATP6):m.8794C>T
|
rs2298007
|
|
NC_012920.1(MT-ATP6):m.8800T>G
|
rs1569484239
|
|
NC_012920.1(MT-ATP6):m.8803A>G
|
rs878853020
|
|
NC_012920.1(MT-ATP6):m.8803A>T
|
rs878853020
|
|
NC_012920.1(MT-ATP6):m.8812A>G
|
rs1556423543
|
|
NC_012920.1(MT-ATP6):m.8812A>T
|
rs1556423543
|
|
NC_012920.1(MT-ATP6):m.8821T>C
|
rs1603221825
|
|
NC_012920.1(MT-ATP6):m.8824A>G
|
rs1603221827
|
|
NC_012920.1(MT-ATP6):m.8825T>C
|
rs1603221830
|
|
NC_012920.1(MT-ATP6):m.8836A>G
|
rs1603221835
|
|
NC_012920.1(MT-ATP6):m.8839G>A
|
rs1556423547
|
|
NC_012920.1(MT-ATP6):m.8839G>C
|
rs1556423547
|
|
NC_012920.1(MT-ATP6):m.8840C>T
|
rs1603221837
|
|
NC_012920.1(MT-ATP6):m.8842A>C
|
rs386829052
|
|
NC_012920.1(MT-ATP6):m.8842A>G
|
rs386829052
|
|
NC_012920.1(MT-ATP6):m.8843T>C
|
rs386829053
|
|
NC_012920.1(MT-ATP6):m.8844C>A
|
rs1603221840
|
|
NC_012920.1(MT-ATP6):m.8851T>C
|
rs199476136
|
|
NC_012920.1(MT-ATP6):m.8854G>A
|
rs386829055
|
|
NC_012920.1(MT-ATP6):m.8857G>A
|
rs201017581
|
|
NC_012920.1(MT-ATP6):m.8860A>G
|
rs2001031
|
|
NC_012920.1(MT-ATP6):m.8863G>A
|
rs1603221852
|
|
NC_012920.1(MT-ATP6):m.8864T>C
|
rs1556423555
|
|
NC_012920.1(MT-ATP6):m.8866A>G
|
rs1603221856
|
|
NC_012920.1(MT-ATP6):m.8868T>A
|
rs1556423556
|
|
NC_012920.1(MT-ATP6):m.8869A>G
|
rs41432347
|
|
NC_012920.1(MT-ATP6):m.8870T>C
|
rs1556423560
|
|
NC_012920.1(MT-ATP6):m.8873G>C
|
rs1603221864
|
|
NC_012920.1(MT-ATP6):m.8875T>C
|
rs201123510
|
|
NC_012920.1(MT-ATP6):m.8879G>A
|
rs1603221870
|
|
NC_012920.1(MT-ATP6):m.8887A>G
|
rs1556423565
|
|
NC_012920.1(MT-ATP6):m.8888T>C
|
rs1603221880
|
|
NC_012920.1(MT-ATP6):m.8895T>A
|
rs1603221884
|
|
NC_012920.1(MT-ATP6):m.8896G>A
|
rs202120082
|
|
NC_012920.1(MT-ATP6):m.8897C>T
|
rs1603221889
|
|
NC_012920.1(MT-ATP6):m.8906A>C
|
rs1603221897
|
|
NC_012920.1(MT-ATP6):m.8908T>C
|
rs1603221898
|
|
NC_012920.1(MT-ATP6):m.8910C>A
|
rs1603221899
|
|
NC_012920.1(MT-ATP6):m.8915C>T
|
|
|
NC_012920.1(MT-ATP6):m.8920G>A
|
rs28406348
|
|
NC_012920.1(MT-ATP6):m.8921G>A
|
rs2298008
|
|
NC_012920.1(MT-ATP6):m.8923A>G
|
rs200329150
|
|
NC_012920.1(MT-ATP6):m.8930C>T
|
rs1603221915
|
|
NC_012920.1(MT-ATP6):m.8932C>T
|
rs878853013
|
|
NC_012920.1(MT-ATP6):m.8933C>T
|
rs1603221918
|
|
NC_012920.1(MT-ATP6):m.8935C>T
|
rs28377547
|
|
NC_012920.1(MT-ATP6):m.8936T>C
|
rs1603221920
|
|
NC_012920.1(MT-ATP6):m.8938A>G
|
rs1603221923
|
|
NC_012920.1(MT-ATP6):m.8939T>C
|
rs1603221925
|
|
NC_012920.1(MT-ATP6):m.8941C>T
|
rs1603221928
|
|
NC_012920.1(MT-ATP6):m.8944A>G
|
rs1603221929
|
|
NC_012920.1(MT-ATP6):m.8950G>A
|
rs1556423574
|
|
NC_012920.1(MT-ATP6):m.8951T>C
|
rs1603221934
|
|
NC_012920.1(MT-ATP6):m.8953A>G
|
rs1603221936
|
|
NC_012920.1(MT-ATP6):m.8954T>C
|
rs1556423576
|
|
NC_012920.1(MT-ATP6):m.8959G>A
|
rs1603221944
|
|
NC_012920.1(MT-ATP6):m.8962A>G
|
rs1603221945
|
|
NC_012920.1(MT-ATP6):m.8966T>C
|
rs1556423580
|
|
NC_012920.1(MT-ATP6):m.8972T>C
|
rs1603221948
|
|
NC_012920.1(MT-ATP6):m.8974C>G
|
rs1603221949
|
|
NC_012920.1(MT-ATP6):m.8975T>C
|
rs1981459
|
|
NC_012920.1(MT-ATP6):m.8978T>C
|
rs1603221954
|
|
NC_012920.1(MT-ATP6):m.8981A>G
|
rs1603221955
|
|
NC_012920.1(MT-ATP6):m.8986A>G
|
rs1603221956
|
|
NC_012920.1(MT-ATP6):m.8987T>C
|
rs1603221957
|
|
NC_012920.1(MT-ATP6):m.8989G>A
|
rs587776444
|
|
NC_012920.1(MT-ATP6):m.8989G>C
|
rs587776444
|
|
NC_012920.1(MT-ATP6):m.8993T>C
|
rs199476133
|
|
NC_012920.1(MT-ATP6):m.8993T>G
|
rs199476133
|
|
NC_012920.1(MT-ATP6):m.8998G>A
|
rs376792657
|
|
NC_012920.1(MT-ATP6):m.8999T>C
|
rs1603221963
|
|
NC_012920.1(MT-ATP6):m.9005T>C
|
rs1603221971
|
|
NC_012920.1(MT-ATP6):m.9007A>G
|
rs1603221973
|
|
NC_012920.1(MT-ATP6):m.9007A>T
|
rs1603221973
|
|
NC_012920.1(MT-ATP6):m.9010G>A
|
rs1556423589
|
|
NC_012920.1(MT-ATP6):m.9014A>G
|
rs1603221980
|
|
NC_012920.1(MT-ATP6):m.9016A>G
|
rs1556423591
|
|
NC_012920.1(MT-ATP6):m.9019A>G
|
rs1603221982
|
|
NC_012920.1(MT-ATP6):m.9025G>A
|
rs28681063
|
|
NC_012920.1(MT-ATP6):m.9026G>A
|
rs1603221987
|
|
NC_012920.1(MT-ATP6):m.9028C>T
|
rs1603221990
|
|
NC_012920.1(MT-ATP6):m.9029A>G
|
rs1603221991
|
|
NC_012920.1(MT-ATP6):m.9032T>C
|
rs1603221994
|
|
NC_012920.1(MT-ATP6):m.9035T>C
|
rs1603222000
|
|
NC_012920.1(MT-ATP6):m.9038T>C
|
rs1603222003
|
|
NC_012920.1(MT-ATP6):m.9041A>G
|
rs879244322
|
|
NC_012920.1(MT-ATP6):m.9047T>C
|
rs1603222008
|
|
NC_012920.1(MT-ATP6):m.9049G>A
|
rs1603222011
|
|
NC_012920.1(MT-ATP6):m.9052A>G
|
rs1556423597
|
|
NC_012920.1(MT-ATP6):m.9053G>A
|
rs199646902
|
|
NC_012920.1(MT-ATP6):m.9055G>A
|
rs193303045
|
|
NC_012920.1(MT-ATP6):m.9056C>T
|
rs1603222017
|
|
NC_012920.1(MT-ATP6):m.9058A>C
|
rs1556423599
|
|
NC_012920.1(MT-ATP6):m.9058A>G
|
rs1556423599
|
|
NC_012920.1(MT-ATP6):m.9064G>A
|
rs386420013
|
|
NC_012920.1(MT-ATP6):m.9067A>G
|
rs1603222028
|
|
NC_012920.1(MT-ATP6):m.9070T>C
|
rs879190502
|
|
NC_012920.1(MT-ATP6):m.9070T>G
|
rs879190502
|
|
NC_012920.1(MT-ATP6):m.9071C>T
|
rs1603222032
|
|
NC_012920.1(MT-ATP6):m.9073A>C
|
rs1556423603
|
|
NC_012920.1(MT-ATP6):m.9077T>C
|
rs1603222037
|
|
NC_012920.1(MT-ATP6):m.9079A>G
|
rs1603222038
|
|
NC_012920.1(MT-ATP6):m.9080A>G
|
rs1556423607
|
|
NC_012920.1(MT-ATP6):m.9082C>T
|
rs1603222043
|
|
NC_012920.1(MT-ATP6):m.9083T>C
|
rs1603222045
|
|
NC_012920.1(MT-ATP6):m.9085C>A
|
rs1603222048
|
|
NC_012920.1(MT-ATP6):m.9086C>T
|
rs1603222049
|
|
NC_012920.1(MT-ATP6):m.9088T>C
|
rs370460521
|
|
NC_012920.1(MT-ATP6):m.9091A>G
|
rs1057520079
|
|
NC_012920.1(MT-ATP6):m.9094C>T
|
rs1603222055
|
|
NC_012920.1(MT-ATP6):m.9095T>C
|
rs1603222056
|
|
NC_012920.1(MT-ATP6):m.9097A>G
|
rs1603222059
|
|
NC_012920.1(MT-ATP6):m.9098T>C
|
rs201559119
|
|
NC_012920.1(MT-ATP6):m.9098T>G
|
rs201559119
|
|
NC_012920.1(MT-ATP6):m.9099C>A
|
rs1603222065
|
|
NC_012920.1(MT-ATP6):m.9100A>G
|
rs1603222068
|
|
NC_012920.1(MT-ATP6):m.9101T>C
|
rs199476134
|
|
NC_012920.1(MT-ATP6):m.9101T>G
|
rs199476134
|
|
NC_012920.1(MT-ATP6):m.9103T>C
|
rs1603222077
|
|
NC_012920.1(MT-ATP6):m.9104T>C
|
rs1603222079
|
|
NC_012920.1(MT-ATP6):m.9106A>G
|
rs1603222082
|
|
NC_012920.1(MT-ATP6):m.9110T>C
|
rs1603222087
|
|
NC_012920.1(MT-ATP6):m.9115A>G
|
rs1603222091
|
|
NC_012920.1(MT-ATP6):m.9116T>C
|
rs376203575
|
|
NC_012920.1(MT-ATP6):m.9122T>G
|
rs1603222104
|
|
NC_012920.1(MT-ATP6):m.9125C>T
|
rs1603222109
|
|
NC_012920.1(MT-ATP6):m.9127A>G
|
rs199732761
|
|
NC_012920.1(MT-ATP6):m.9128T>C
|
rs878867946
|
|
NC_012920.1(MT-ATP6):m.9130C>A
|
rs1603222113
|
|
NC_012920.1(MT-ATP6):m.9133G>A
|
rs1603222118
|
|
NC_012920.1(MT-ATP6):m.9134A>G
|
rs1603222119
|
|
NC_012920.1(MT-ATP6):m.9137T>C
|
rs1603222121
|
|
NC_012920.1(MT-ATP6):m.9139G>A
|
rs879243938
|
|
NC_012920.1(MT-ATP6):m.9140C>T
|
rs878972895
|
|
NC_012920.1(MT-ATP6):m.9142G>A
|
rs200660596
|
|
NC_012920.1(MT-ATP6):m.9145G>A
|
rs1556423622
|
|
NC_012920.1(MT-ATP6):m.9151A>G
|
rs879206297
|
|
NC_012920.1(MT-ATP6):m.9152T>C
|
rs878853096
|
|
NC_012920.1(MT-ATP6):m.9155A>G
|
|
|
NC_012920.1(MT-ATP6):m.9157G>A
|
rs1556423625
|
|
NC_012920.1(MT-ATP6):m.9160T>C
|
rs1603222140
|
|
NC_012920.1(MT-ATP6):m.9163G>A
|
rs2298010
|
|
NC_012920.1(MT-ATP6):m.9166T>C
|
rs1057516063
|
|
NC_012920.1(MT-ATP6):m.9167T>C
|
rs1603222143
|
|
NC_012920.1(MT-ATP6):m.9169A>G
|
rs1603222145
|
|
NC_012920.1(MT-ATP6):m.9170C>T
|
rs1603222148
|
|
NC_012920.1(MT-ATP6):m.9176T>C
|
rs199476135
|
|
NC_012920.1(MT-ATP6):m.9176T>G
|
rs199476135
|
|
NC_012920.1(MT-ATP6):m.9179T>C
|
rs1603222150
|
|
NC_012920.1(MT-ATP6):m.9181A>G
|
rs1556423628
|
|
NC_012920.1(MT-ATP6):m.9182G>A
|
rs1556423629
|
|
NC_012920.1(MT-ATP6):m.9185T>C
|
rs199476138
|
|
NC_012920.1(MT-ATP6):m.9188A>G
|
rs1603222161
|
|
NC_012920.1(MT-ATP6):m.9191T>C
|
rs1556423632
|
|
NC_012920.1(MT-ATP6):m.9194A>G
|
rs1603222162
|
|
NC_012920.1(MT-ATP6):m.9196G>A
|
rs374870159
|
|
NC_012920.1(MT-ATP6):m.9202A>G
|
rs1603222169
|
|
NC_012920.1(MT-ATP6):m.9205T>C
|
rs1603222171
|
|
NC_012920.1(MT-ATP8):m.8369C>T
|
rs1603221429
|
|
NC_012920.1(MT-ATP8):m.8373A>G
|
rs1603221431
|
|
NC_012920.1(MT-ATP8):m.8373A>T
|
rs1603221431
|
|
NC_012920.1(MT-ATP8):m.8379A>G
|
rs1603221434
|
|
NC_012920.1(MT-ATP8):m.8381A>G
|
rs1603221438
|
|
NC_012920.1(MT-ATP8):m.8381A>T
|
rs1603221438
|
|
NC_012920.1(MT-ATP8):m.8382C>T
|
rs1556423437
|
|
NC_012920.1(MT-ATP8):m.8387G>A
|
rs1556423439
|
|
NC_012920.1(MT-ATP8):m.8388T>C
|
rs879199176
|
|
NC_012920.1(MT-ATP8):m.8393C>T
|
rs1556423442
|
|
NC_012920.1(MT-ATP8):m.8394C>T
|
rs1603221450
|
|
NC_012920.1(MT-ATP8):m.8396A>G
|
rs1603221454
|
|
NC_012920.1(MT-ATP8):m.8397C>G
|
rs1603221456
|
|
NC_012920.1(MT-ATP8):m.8400T>C
|
rs1603221459
|
|
NC_012920.1(MT-ATP8):m.8403T>C
|
rs1603221460
|
|
NC_012920.1(MT-ATP8):m.8406C>T
|
rs1556423448
|
|
NC_012920.1(MT-ATP8):m.8411A>C
|
rs878942289
|
|
NC_012920.1(MT-ATP8):m.8411A>G
|
rs878942289
|
|
NC_012920.1(MT-ATP8):m.8412T>C
|
rs1556423451
|
|
NC_012920.1(MT-ATP8):m.8414C>T
|
rs28358884
|
|
NC_012920.1(MT-ATP8):m.8415T>C
|
rs1603221470
|
|
NC_012920.1(MT-ATP8):m.8417C>T
|
rs199616772
|
|
NC_012920.1(MT-ATP8):m.8426T>C
|
rs1556423461
|
|
NC_012920.1(MT-ATP8):m.8427T>C
|
|
|
NC_012920.1(MT-ATP8):m.8429C>T
|
rs1603221477
|
|
NC_012920.1(MT-ATP8):m.8430T>C
|
rs1603221478
|
|
NC_012920.1(MT-ATP8):m.8433T>C
|
rs1603221480
|
|
NC_012920.1(MT-ATP8):m.8435A>G
|
rs1603221481
|
|
NC_012920.1(MT-ATP8):m.8435A>T
|
rs1603221481
|
|
NC_012920.1(MT-ATP8):m.8448T>C
|
rs879056797
|
|
NC_012920.1(MT-ATP8):m.8453A>G
|
rs1603221486
|
|
NC_012920.1(MT-ATP8):m.8454A>G
|
rs1603221488
|
|
NC_012920.1(MT-ATP8):m.8460A>G
|
rs1116906
|
|
NC_012920.1(MT-ATP8):m.8461C>A
|
rs1603221493
|
|
NC_012920.1(MT-ATP8):m.8462T>C
|
rs1603221496
|
|
NC_012920.1(MT-ATP8):m.8463A>G
|
rs1603221498
|
|
NC_012920.1(MT-ATP8):m.8466A>G
|
rs1603221500
|
|
NC_012920.1(MT-ATP8):m.8469T>C
|
rs1603221503
|
|
NC_012920.1(MT-ATP8):m.8471C>T
|
rs1603221506
|
|
NC_012920.1(MT-ATP8):m.8472C>T
|
rs879209186
|
|
NC_012920.1(MT-ATP8):m.8474C>T
|
rs1603221515
|
|
NC_012920.1(MT-ATP8):m.8477T>C
|
rs1603221517
|
|
NC_012920.1(MT-ATP8):m.8478C>T
|
rs201902227
|
|
NC_012920.1(MT-ATP8):m.8480C>T
|
rs1603221520
|
|
NC_012920.1(MT-ATP8):m.8481C>T
|
rs1603221521
|
|
NC_012920.1(MT-ATP8):m.8489A>G
|
rs1603221529
|
|
NC_012920.1(MT-ATP8):m.8490T>C
|
rs1603221530
|
|
NC_012920.1(MT-ATP8):m.8496T>C
|
rs1603221534
|
|
NC_012920.1(MT-ATP8):m.8502A>G
|
rs879247004
|
|
NC_012920.1(MT-ATP8):m.8502A>T
|
rs879247004
|
|
NC_012920.1(MT-ATP8):m.8504T>C
|
rs1603221542
|
|
NC_012920.1(MT-ATP8):m.8507A>G
|
rs1603221546
|
|
NC_012920.1(MT-ATP8):m.8508A>G
|
rs1603221548
|
|
NC_012920.1(MT-ATP8):m.8514C>T
|
rs1603221554
|
|
NC_012920.1(MT-ATP8):m.8516T>C
|
rs878928585
|
|
NC_012920.1(MT-ATP8):m.8519G>A
|
rs878853091
|
|
NC_012920.1(MT-ATP8):m.8520A>G
|
rs1603221561
|
|
NC_012920.1(MT-ATP8):m.8522C>T
|
rs1603221562
|
|
NC_012920.1(MT-ATP8):m.8527A>G
|
rs878853003
|
|
NC_012920.1(MT-ATP8):m.8530A>G
|
rs1556423480
|
|
NC_012920.1(MT-ATP8):m.8531A>G
|
rs1556423481
|
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NC_012920.1(MT-ATP8):m.8533G>A
|
rs386829039
|
|
NC_012920.1(MT-ATP8):m.8537A>G
|
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|
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NC_012920.1(MT-ATP8):m.8540T>C
|
rs878852987
|
|
NC_012920.1(MT-ATP8):m.8541G>A
|
rs1569484218
|
|
NC_012920.1(MT-ATP8):m.8542T>C
|
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|
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NC_012920.1(MT-ATP8):m.8545G>A
|
rs1603221578
|
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NC_012920.1(MT-ATP8):m.8547T>C
|
rs1603221579
|
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NC_012920.1(MT-ATP8):m.8548T>C
|
rs1603221580
|
|
NC_012920.1(MT-ATP8):m.8550A>G
|
rs1603221581
|
|
NC_012920.1(MT-ATP8):m.8551T>C
|
rs1556423486
|
|
NC_012920.1(MT-ATP8):m.8552T>C
|
rs1603221582
|
|
NC_012920.1(MT-ATP8):m.8553C>T
|
rs1569484219
|
|
NC_012920.1(MT-ATP8):m.8554A>G
|
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|
|
NC_012920.1(MT-ATP8):m.8557G>A
|
rs386829040
|
|
NC_012920.1(MT-ATP8):m.8557G>C
|
rs386829040
|
|
NC_012920.1(MT-ATP8):m.8562C>T
|
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|
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NC_012920.1(MT-ATP8):m.8563A>G
|
rs386829041
|
|
NC_012920.1(MT-ATP8):m.8566A>G
|
rs3020563
|
|
NC_012920.1(MT-ATP8):m.8567T>C
|
rs1603221586
|
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NC_012920.1(MT-ATP8):m.8568C>A
|
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|
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NC_012920.1(MT-ATP8):m.8572G>A
|
rs28502681
|
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NC_012920.1(MT-CO1):m.5907T>C
|
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|
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NC_012920.1(MT-CO1):m.5910G>A
|
rs1603220177
|
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NC_012920.1(MT-CO1):m.5911C>T
|
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|
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NC_012920.1(MT-CO1):m.5913G>A
|
rs201617272
|
|
NC_012920.1(MT-CO1):m.5961C>A
|
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|
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NC_012920.1(MT-CO1):m.5973G>A
|
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|
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NC_012920.1(MT-CO1):m.5979G>A
|
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|
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NC_012920.1(MT-CO1):m.5985G>A
|
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|
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NC_012920.1(MT-CO1):m.6012A>G
|
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|
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NC_012920.1(MT-CO1):m.6018G>A
|
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|
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NC_012920.1(MT-CO1):m.6037G>A
|
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|
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NC_012920.1(MT-CO1):m.6040A>G
|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6052A>G
|
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|
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NC_012920.1(MT-CO1):m.6060A>C
|
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|
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NC_012920.1(MT-CO1):m.6060A>G
|
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|
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NC_012920.1(MT-CO1):m.6061T>C
|
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|
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NC_012920.1(MT-CO1):m.6072A>G
|
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|
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NC_012920.1(MT-CO1):m.6075G>A
|
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|
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NC_012920.1(MT-CO1):m.6081G>A
|
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|
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NC_012920.1(MT-CO1):m.6081G>T
|
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|
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NC_012920.1(MT-CO1):m.6093G>A
|
rs1603220271
|
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NC_012920.1(MT-CO1):m.6109T>C
|
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|
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NC_012920.1(MT-CO1):m.6120A>G
|
rs878853023
|
|
NC_012920.1(MT-CO1):m.6121T>C
|
rs1603220280
|
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NC_012920.1(MT-CO1):m.6126A>G
|
rs1556423082
|
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NC_012920.1(MT-CO1):m.6132G>A
|
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|
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NC_012920.1(MT-CO1):m.6150G>A
|
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|
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NC_012920.1(MT-CO1):m.6174G>A
|
rs1603220303
|
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NC_012920.1(MT-CO1):m.6228C>T
|
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|
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NC_012920.1(MT-CO1):m.6237C>A
|
rs1603220344
|
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NC_012920.1(MT-CO1):m.6249G>A
|
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|
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NC_012920.1(MT-CO1):m.6252A>G
|
rs878927119
|
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NC_012920.1(MT-CO1):m.6253T>C
|
rs200165736
|
|
NC_012920.1(MT-CO1):m.6258G>A
|
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|
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NC_012920.1(MT-CO1):m.6261G>A
|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6267G>A
|
rs202216551
|
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NC_012920.1(MT-CO1):m.6273A>G
|
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|
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NC_012920.1(MT-CO1):m.6285G>A
|
rs878947044
|
|
NC_012920.1(MT-CO1):m.6286T>C
|
rs1603220392
|
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NC_012920.1(MT-CO1):m.6289A>G
|
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|
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NC_012920.1(MT-CO1):m.6307A>G
|
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|
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NC_012920.1(MT-CO1):m.6324G>A
|
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|
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NC_012920.1(MT-CO1):m.6339A>G
|
rs1556423119
|
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NC_012920.1(MT-CO1):m.6340C>T
|
rs1603220429
|
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NC_012920.1(MT-CO1):m.6345T>C
|
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|
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NC_012920.1(MT-CO1):m.6358T>C
|
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|
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NC_012920.1(MT-CO1):m.6366G>A
|
rs370673798
|
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NC_012920.1(MT-CO1):m.6366G>C
|
rs370673798
|
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NC_012920.1(MT-CO1):m.6367T>C
|
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|
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NC_012920.1(MT-CO1):m.6393T>C
|
rs879212050
|
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NC_012920.1(MT-CO1):m.6420C>A
|
rs1603220466
|
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NC_012920.1(MT-CO1):m.6445C>T
|
rs879164161
|
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|
rs1603220483
|
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NC_012920.1(MT-CO1):m.6465G>A
|
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|
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|
rs199476128
|
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|
rs28721398
|
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|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6505T>C
|
rs28371932
|
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NC_012920.1(MT-CO1):m.6510G>A
|
rs1603220518
|
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NC_012920.1(MT-CO1):m.6520T>C
|
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|
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NC_012920.1(MT-CO1):m.6526T>C
|
rs1603220522
|
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NC_012920.1(MT-CO1):m.6546C>T
|
rs1603220531
|
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NC_012920.1(MT-CO1):m.6550A>G
|
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|
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NC_012920.1(MT-CO1):m.6564G>A
|
rs1603220535
|
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NC_012920.1(MT-CO1):m.6570G>T
|
rs386828988
|
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NC_012920.1(MT-CO1):m.6642A>G
|
rs1603220559
|
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NC_012920.1(MT-CO1):m.6663A>G
|
rs200784106
|
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NC_012920.1(MT-CO1):m.6664T>C
|
rs1603220567
|
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NC_012920.1(MT-CO1):m.6681T>C
|
rs879180101
|
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NC_012920.1(MT-CO1):m.6709G>A
|
rs1603220583
|
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NC_012920.1(MT-CO1):m.6712A>T
|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6723G>A
|
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|
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NC_012920.1(MT-CO1):m.6747T>C
|
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|
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NC_012920.1(MT-CO1):m.6748T>C
|
rs1556423171
|
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NC_012920.1(MT-CO1):m.6756T>C
|
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|
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NC_012920.1(MT-CO1):m.6781T>C
|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6855G>A
|
rs1603220653
|
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|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6876G>A
|
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|
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NC_012920.1(MT-CO1):m.6891A>G
|
rs879091068
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6951G>A
|
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|
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|
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|
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NC_012920.1(MT-CO1):m.6978G>A
|
rs28451817
|
|
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|
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|
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|
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|
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NC_012920.1(MT-CO1):m.7020G>A
|
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|
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|
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|
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NC_012920.1(MT-CO1):m.7041G>A
|
rs1556423220
|
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NC_012920.1(MT-CO1):m.7051T>C
|
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|
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|
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|
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|
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|
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|
rs1556423226
|
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NC_012920.1(MT-CO1):m.7083A>G
|
rs1603220768
|
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NC_012920.1(MT-CO1):m.7084T>C
|
rs28445709
|
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|
rs1556423235
|
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NC_012920.1(MT-CO1):m.7125A>G
|
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|
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NC_012920.1(MT-CO1):m.7129A>G
|
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|
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NC_012920.1(MT-CO1):m.7138T>C
|
rs1603220794
|
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NC_012920.1(MT-CO1):m.7146A>G
|
rs372136420
|
|
NC_012920.1(MT-CO1):m.7146_7147inv
|
|
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NC_012920.1(MT-CO1):m.7147C>T
|
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|
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NC_012920.1(MT-CO1):m.7149A>G
|
rs1603220802
|
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NC_012920.1(MT-CO1):m.7150T>C
|
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|
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NC_012920.1(MT-CO1):m.7153T>C
|
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|
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NC_012920.1(MT-CO1):m.7155T>C
|
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|
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NC_012920.1(MT-CO1):m.7158A>C
|
rs878887002
|
|
NC_012920.1(MT-CO1):m.7158A>G
|
rs878887002
|
|
NC_012920.1(MT-CO1):m.7159T>C
|
rs3929989
|
|
NC_012920.1(MT-CO1):m.7168A>G
|
rs1603220812
|
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NC_012920.1(MT-CO1):m.7187A>T
|
rs1603220823
|
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NC_012920.1(MT-CO1):m.7191T>C
|
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|
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NC_012920.1(MT-CO1):m.7233C>T
|
rs1603220839
|
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NC_012920.1(MT-CO1):m.7245A>G
|
rs1556423253
|
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NC_012920.1(MT-CO1):m.7249C>T
|
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|
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NC_012920.1(MT-CO1):m.7257A>G
|
rs1603220854
|
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NC_012920.1(MT-CO1):m.7258T>C
|
rs1556423260
|
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NC_012920.1(MT-CO1):m.7269G>A
|
rs386829004
|
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NC_012920.1(MT-CO1):m.7270T>C
|
rs879002867
|
|
NC_012920.1(MT-CO1):m.7272G>A
|
rs28415137
|
|
NC_012920.1(MT-CO1):m.7278T>C
|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CO1):m.7290A>G
|
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|
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NC_012920.1(MT-CO1):m.7299A>G
|
rs879071265
|
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|
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|
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NC_012920.1(MT-CO1):m.7309T>C
|
rs1556423267
|
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|
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|
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|
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|
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NC_012920.1(MT-CO1):m.7356G>A
|
rs1556423271
|
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NC_012920.1(MT-CO1):m.7357T>C
|
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|
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NC_012920.1(MT-CO1):m.7362G>A
|
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|
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NC_012920.1(MT-CO1):m.7363A>G
|
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|
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NC_012920.1(MT-CO1):m.7365C>A
|
rs1603220919
|
|
NC_012920.1(MT-CO1):m.7374A>G
|
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|
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NC_012920.1(MT-CO1):m.7389T>C
|
rs9783095
|
|
NC_012920.1(MT-CO1):m.7408A>G
|
rs1603220949
|
|
NC_012920.1(MT-CO1):m.7419G>A
|
rs1603220951
|
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NC_012920.1(MT-CO1):m.7431T>C
|
rs1603220957
|
|
NC_012920.1(MT-CO1):m.7432A>T
|
rs1603220958
|
|
NC_012920.1(MT-CO1):m.7440T>C
|
rs1603220962
|
|
NC_012920.1(MT-CO1):m.7440T>G
|
rs1603220962
|
|
NC_012920.1(MT-CO1):m.7444G>A
|
rs199474822
|
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NC_012920.1(MT-CO2):m.7598G>A
|
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|
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NC_012920.1(MT-CO2):m.7604G>A
|
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|
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NC_012920.1(MT-CO2):m.7608G>A
|
rs1603221035
|
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NC_012920.1(MT-CO2):m.7628C>A
|
rs1603221045
|
|
NC_012920.1(MT-CO2):m.7632T>C
|
rs1603221049
|
|
NC_012920.1(MT-CO2):m.7637G>A
|
rs1556423314
|
|
NC_012920.1(MT-CO2):m.7649A>G
|
rs1603221060
|
|
NC_012920.1(MT-CO2):m.7650C>T
|
rs1603221063
|
|
NC_012920.1(MT-CO2):m.7664G>A
|
rs879139393
|
|
NC_012920.1(MT-CO2):m.7664G>T
|
rs879139393
|
|
NC_012920.1(MT-CO2):m.7673A>G
|
rs1569484167
|
|
NC_012920.1(MT-CO2):m.7674T>C
|
rs1569484168
|
|
NC_012920.1(MT-CO2):m.7679T>C
|
rs879003775
|
|
NC_012920.1(MT-CO2):m.7686T>C
|
rs1603221081
|
|
NC_012920.1(MT-CO2):m.7691T>C
|
rs1603221084
|
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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rs1603223360
|
|
NC_012920.1(MT-ND4):m.11621_11622del
|
rs1603223363
|
|
NC_012920.1(MT-ND4):m.11634G>A
|
rs1603223368
|
|
NC_012920.1(MT-ND4):m.11654A>G
|
rs1603223374
|
|
NC_012920.1(MT-ND4):m.11696G>A
|
rs200873900
|
|
NC_012920.1(MT-ND4):m.11708A>G
|
rs386829138
|
|
NC_012920.1(MT-ND4):m.11711G>A
|
rs1603223391
|
|
NC_012920.1(MT-ND4):m.11733T>C
|
rs1603223397
|
|
NC_012920.1(MT-ND4):m.11777C>A
|
rs28384199
|
|
NC_012920.1(MT-ND4):m.11781T>C
|
rs1603223410
|
|
NC_012920.1(MT-ND4):m.11792T>G
|
rs1603223415
|
|
NC_012920.1(MT-ND4):m.11807A>G
|
rs1603223419
|
|
NC_012920.1(MT-ND4):m.11825G>A
|
rs879083692
|
|
NC_012920.1(MT-ND4):m.11906G>A
|
rs1603223460
|
|
NC_012920.1(MT-ND4):m.11913C>T
|
rs1603223463
|
|
NC_012920.1(MT-ND4):m.11928A>G
|
rs1569484466
|
|
NC_012920.1(MT-ND4):m.11930A>G
|
rs1603223472
|
|
NC_012920.1(MT-ND4):m.11931T>C
|
rs1603223474
|
|
NC_012920.1(MT-ND4):m.11946C>T
|
rs1603223482
|
|
NC_012920.1(MT-ND4):m.11957A>G
|
rs1603223488
|
|
NC_012920.1(MT-ND4):m.11963G>A
|
rs201803948
|
|
NC_012920.1(MT-ND4):m.11964T>G
|
rs1603223491
|
|
NC_012920.1(MT-ND4):m.11969G>A
|
rs28359169
|
|
NC_012920.1(MT-ND4):m.11978T>A
|
rs1603223502
|
|
NC_012920.1(MT-ND4):m.11981C>T
|
rs386829143
|
|
NC_012920.1(MT-ND4):m.11984T>C
|
rs200911567
|
|
NC_012920.1(MT-ND4):m.11990T>C
|
rs1603223505
|
|
NC_012920.1(MT-ND4):m.12011T>C
|
rs386829144
|
|
NC_012920.1(MT-ND4):m.12011T>G
|
rs386829144
|
|
NC_012920.1(MT-ND4):m.12013A>G
|
rs1057516067
|
|
NC_012920.1(MT-ND4):m.12014C>T
|
rs1603223511
|
|
NC_012920.1(MT-ND4):m.12017A>G
|
rs879136236
|
|
NC_012920.1(MT-ND4):m.12018C>G
|
rs1057516068
|
|
NC_012920.1(MT-ND4):m.12020C>T
|
rs1603223516
|
|
NC_012920.1(MT-ND4):m.12026A>G
|
rs202136725
|
|
NC_012920.1(MT-ND4):m.12030A>G
|
rs1556424041
|
|
NC_012920.1(MT-ND4):m.12031C>A
|
rs1603223519
|
|
NC_012920.1(MT-ND4):m.12033A>G
|
rs1603223521
|
|
NC_012920.1(MT-ND4):m.12040A>T
|
rs1603223523
|
|
NC_012920.1(MT-ND4):m.12054G>A
|
rs1603223526
|
|
NC_012920.1(MT-ND4):m.12063C>T
|
rs1603223527
|
|
NC_012920.1(MT-ND4):m.12074A>C
|
rs1603223534
|
|
NC_012920.1(MT-ND4):m.12083T>G
|
rs1556424049
|
|
NC_012920.1(MT-ND4):m.12084C>T
|
rs1556424051
|
|
NC_012920.1(MT-ND4):m.12092C>A
|
rs1603223542
|
|
NC_012920.1(MT-ND4):m.12092C>T
|
rs1603223542
|
|
NC_012920.1(MT-ND4):m.12117T>C
|
rs1603223549
|
|
NC_012920.1(MT-ND4):m.12122A>G
|
rs1603223553
|
|
NC_012920.1(MT-ND4):m.12123C>T
|
rs1569484488
|
|
NC_012920.1(MT-ND4):m.12128T>C
|
rs1603223557
|
|
NC_012920.1(MT-ND4):m.12134T>C
|
rs1603223562
|
|
NC_012920.1(MT-ND4):m.12135C>A
|
rs1556424062
|
|
NC_012920.1(MT-ND4L):m.10489A>G
|
rs1603222854
|
|
NC_012920.1(MT-ND4L):m.10492T>C
|
rs1603222857
|
|
NC_012920.1(MT-ND4L):m.10506A>G
|
rs199688733
|
|
NC_012920.1(MT-ND4L):m.10507C>T
|
rs1603222868
|
|
NC_012920.1(MT-ND4L):m.10522G>A
|
rs1603222873
|
|
NC_012920.1(MT-ND4L):m.10524A>G
|
rs1603222875
|
|
NC_012920.1(MT-ND4L):m.10530G>A
|
rs1603222880
|
|
NC_012920.1(MT-ND4L):m.10579T>C
|
rs1603222900
|
|
NC_012920.1(MT-ND4L):m.10599G>A
|
rs1603222910
|
|
NC_012920.1(MT-ND4L):m.10600C>T
|
rs1603222912
|
|
NC_012920.1(MT-ND4L):m.10602A>G
|
rs1603222913
|
|
NC_012920.1(MT-ND4L):m.10609T>C
|
rs200487531
|
|
NC_012920.1(MT-ND4L):m.10620A>G
|
rs1603222915
|
|
NC_012920.1(MT-ND4L):m.10630T>C
|
rs1603222919
|
|
NC_012920.1(MT-ND4L):m.10635G>A
|
rs1603222924
|
|
NC_012920.1(MT-ND4L):m.10639A>G
|
rs1603222927
|
|
NC_012920.1(MT-ND4L):m.10644G>A
|
rs1569484385
|
|
NC_012920.1(MT-ND4L):m.10653G>A
|
rs386829108
|
|
NC_012920.1(MT-ND4L):m.10654C>T
|
rs1603222934
|
|
NC_012920.1(MT-ND4L):m.10677G>A
|
rs1603222944
|
|
NC_012920.1(MT-ND4L):m.10680G>A
|
rs1603222945
|
|
NC_012920.1(MT-ND4L):m.10686G>A
|
rs1603222946
|
|
NC_012920.1(MT-ND4L):m.10704G>A
|
rs28437034
|
|
NC_012920.1(MT-ND4L):m.10749A>G
|
rs1603222963
|
|
NC_012920.1(MT-ND4L):m.10750A>G
|
rs372297272
|
|
NC_012920.1(MT-ND5):m.12338T>C
|
rs201863060
|
|
NC_012920.1(MT-ND5):m.12340A>G
|
rs28490236
|
|
NC_012920.1(MT-ND5):m.12341C>T
|
rs1603223671
|
|
NC_012920.1(MT-ND5):m.12344T>C
|
rs1603223675
|
|
NC_012920.1(MT-ND5):m.12346C>T
|
rs200279497
|
|
NC_012920.1(MT-ND5):m.12349A>G
|
rs1603223678
|
|
NC_012920.1(MT-ND5):m.12352A>G
|
rs1603223680
|
|
NC_012920.1(MT-ND5):m.12358A>G
|
rs201027657
|
|
NC_012920.1(MT-ND5):m.12361A>G
|
rs3134561
|
|
NC_012920.1(MT-ND5):m.12362C>T
|
rs1603223688
|
|
NC_012920.1(MT-ND5):m.12367A>G
|
rs1603223696
|
|
NC_012920.1(MT-ND5):m.12373A>G
|
rs1556424095
|
|
NC_012920.1(MT-ND5):m.12382A>G
|
rs1603223707
|
|
NC_012920.1(MT-ND5):m.12383T>C
|
rs1603223708
|
|
NC_012920.1(MT-ND5):m.12386C>T
|
rs1603223709
|
|
NC_012920.1(MT-ND5):m.12389C>T
|
rs1603223710
|
|
NC_012920.1(MT-ND5):m.12397A>G
|
rs1556424100
|
|
NC_012920.1(MT-ND5):m.12400A>G
|
rs201405598
|
|
NC_012920.1(MT-ND5):m.12401C>T
|
rs1603223721
|
|
NC_012920.1(MT-ND5):m.12403C>T
|
rs879096684
|
|
NC_012920.1(MT-ND5):m.12406G>A
|
rs28617389
|
|
NC_012920.1(MT-ND5):m.12410A>G
|
rs1603223725
|
|
NC_012920.1(MT-ND5):m.12424A>G
|
rs1603223732
|
|
NC_012920.1(MT-ND5):m.12425A>G
|
rs1603223735
|
|
NC_012920.1(MT-ND5):m.12426C>A
|
rs386829158
|
|
NC_012920.1(MT-ND5):m.12436C>T
|
rs1603223738
|
|
NC_012920.1(MT-ND5):m.12437A>G
|
rs1603223739
|
|
NC_012920.1(MT-ND5):m.12448T>A
|
rs1603223748
|
|
NC_012920.1(MT-ND5):m.12448T>C
|
rs1603223748
|
|
NC_012920.1(MT-ND5):m.12451A>G
|
rs1603223750
|
|
NC_012920.1(MT-ND5):m.12454G>A
|
rs200656196
|
|
NC_012920.1(MT-ND5):m.12457G>A
|
rs1603223754
|
|
NC_012920.1(MT-ND5):m.12458C>T
|
rs1603223755
|
|
NC_012920.1(MT-ND5):m.12479T>C
|
rs1603223760
|
|
NC_012920.1(MT-ND5):m.12481T>A
|
rs1603223762
|
|
NC_012920.1(MT-ND5):m.12481T>C
|
rs1603223762
|
|
NC_012920.1(MT-ND5):m.12490A>G
|
rs1603223763
|
|
NC_012920.1(MT-ND5):m.12501G>C
|
rs28397767
|
|
NC_012920.1(MT-ND5):m.12509A>G
|
rs1603223773
|
|
NC_012920.1(MT-ND5):m.12512A>T
|
rs1603223776
|
|
NC_012920.1(MT-ND5):m.12520A>G
|
rs1603223781
|
|
NC_012920.1(MT-ND5):m.12530A>G
|
rs1603223785
|
|
NC_012920.1(MT-ND5):m.12535C>T
|
rs876661356
|
|
NC_012920.1(MT-ND5):m.12542C>T
|
rs201922401
|
|
NC_012920.1(MT-ND5):m.12544A>G
|
rs1603223798
|
|
NC_012920.1(MT-ND5):m.12545C>T
|
rs1603223799
|
|
NC_012920.1(MT-ND5):m.12556A>G
|
rs1603223805
|
|
NC_012920.1(MT-ND5):m.12557C>T
|
rs1556424125
|
|
NC_012920.1(MT-ND5):m.12560A>G
|
rs1603223808
|
|
NC_012920.1(MT-ND5):m.12561G>C
|
rs28759201
|
|
NC_012920.1(MT-ND5):m.12587A>G
|
rs1603223823
|
|
NC_012920.1(MT-ND5):m.12599T>C
|
rs1556424129
|
|
NC_012920.1(MT-ND5):m.12601T>C
|
rs1603223830
|
|
NC_012920.1(MT-ND5):m.12613G>T
|
rs1603223834
|
|
NC_012920.1(MT-ND5):m.12622G>A
|
rs1603223840
|
|
NC_012920.1(MT-ND5):m.12631T>C
|
rs1603223847
|
|
NC_012920.1(MT-ND5):m.12634A>G
|
rs1556424136
|
|
NC_012920.1(MT-ND5):m.12661A>T (p.Asn109Tyr)
|
rs1603223854
|
|
NC_012920.1(MT-ND5):m.12662A>G (p.Asn109Ser)
|
rs879105366
|
|
NC_012920.1(MT-ND5):m.12673A>G (p.Asn113Asp)
|
rs1556424143
|
|
NC_012920.1(MT-ND5):m.12674A>G (p.Asn113Ser)
|
rs1603223860
|
|
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)
|
rs267606893
|
|
NC_012920.1(MT-ND5):m.12713T>C (p.Ile126Thr)
|
rs1603223871
|
|
NC_012920.1(MT-ND5):m.12715A>G (p.Thr127Ala)
|
rs1603223875
|
|
NC_012920.1(MT-ND5):m.12730G>A (p.Val132Ile)
|
rs1603223879
|
|
NC_012920.1(MT-ND5):m.12743A>G (p.Asn136Ser)
|
rs1603223885
|
|
NC_012920.1(MT-ND5):m.12757T>C
|
rs1603223892
|
|
NC_012920.1(MT-ND5):m.12775G>A
|
rs1603223899
|
|
NC_012920.1(MT-ND5):m.12797T>C
|
rs1603223906
|
|
NC_012920.1(MT-ND5):m.12799A>G
|
rs1603223907
|
|
NC_012920.1(MT-ND5):m.12811T>C
|
rs199974018
|
|
NC_012920.1(MT-ND5):m.12814G>A
|
rs1603223914
|
|
NC_012920.1(MT-ND5):m.12820G>A
|
rs200567053
|
|
NC_012920.1(MT-ND5):m.12835G>A
|
rs1603223923
|
|
NC_012920.1(MT-ND5):m.12836C>T
|
rs1603223924
|
|
NC_012920.1(MT-ND5):m.12842T>C
|
rs1603223927
|
|
NC_012920.1(MT-ND5):m.12850A>G
|
rs28705385
|
|
NC_012920.1(MT-ND5):m.12851T>C
|
rs1603223938
|
|
NC_012920.1(MT-ND5):m.12865A>G
|
rs1603223946
|
|
NC_012920.1(MT-ND5):m.12868G>A
|
rs1603223947
|
|
NC_012920.1(MT-ND5):m.12880T>C
|
rs28719001
|
|
NC_012920.1(MT-ND5):m.12890C>T
|
rs1603223958
|
|
NC_012920.1(MT-ND5):m.12904A>G
|
rs386829168
|
|
NC_012920.1(MT-ND5):m.12905T>C
|
rs1603223963
|
|
NC_012920.1(MT-ND5):m.12906C>A
|
rs28690070
|
|
NC_012920.1(MT-ND5):m.12923G>A
|
|
|
NC_012920.1(MT-ND5):m.12923G>T
|
rs1603223971
|
|
NC_012920.1(MT-ND5):m.12937A>G
|
rs201612920
|
|
NC_012920.1(MT-ND5):m.12940G>A
|
rs200106331
|
|
NC_012920.1(MT-ND5):m.12941C>T
|
rs1603223974
|
|
NC_012920.1(MT-ND5):m.12950A>C
|
rs201361958
|
|
NC_012920.1(MT-ND5):m.12950A>G
|
rs201361958
|
|
NC_012920.1(MT-ND5):m.12952G>A
|
rs1603223978
|
|
NC_012920.1(MT-ND5):m.12961A>G
|
rs386829171
|
|
NC_012920.1(MT-ND5):m.12967A>G
|
rs1556424197
|
|
NC_012920.1(MT-ND5):m.12994G>A
|
rs1603223993
|
|
NC_012920.1(MT-ND5):m.12997G>A
|
rs1603223994
|
|
NC_012920.1(MT-ND5):m.13027C>A
|
rs1603224008
|
|
NC_012920.1(MT-ND5):m.13063G>A
|
rs1603224017
|
|
NC_012920.1(MT-ND5):m.13064T>C
|
rs1603224019
|
|
NC_012920.1(MT-ND5):m.13073T>A
|
rs1603224023
|
|
NC_012920.1(MT-ND5):m.13097T>C
|
rs1603224032
|
|
NC_012920.1(MT-ND5):m.13099G>A
|
rs1603224033
|
|
NC_012920.1(MT-ND5):m.13105A>G
|
rs2853501
|
|
NC_012920.1(MT-ND5):m.13106T>C
|
rs1603224035
|
|
NC_012920.1(MT-ND5):m.13112T>C
|
rs1603224043
|
|
NC_012920.1(MT-ND5):m.13117A>G
|
rs878966690
|
|
NC_012920.1(MT-ND5):m.13129C>T
|
rs1603224056
|
|
NC_012920.1(MT-ND5):m.13135G>A
|
rs200044200
|
|
NC_012920.1(MT-ND5):m.13145G>A
|
rs386829175
|
|
NC_012920.1(MT-ND5):m.13147C>T
|
rs1603224061
|
|
NC_012920.1(MT-ND5):m.13151T>C
|
rs1603224062
|
|
NC_012920.1(MT-ND5):m.13153A>G
|
rs878957731
|
|
NC_012920.1(MT-ND5):m.13154T>C
|
rs1603224067
|
|
NC_012920.1(MT-ND5):m.13159A>G
|
rs1603224070
|
|
NC_012920.1(MT-ND5):m.13162C>A
|
rs1603224073
|
|
NC_012920.1(MT-ND5):m.13183A>G
|
rs879155747
|
|
NC_012920.1(MT-ND5):m.13184T>C
|
rs1603224078
|
|
NC_012920.1(MT-ND5):m.13198G>A
|
rs1603224086
|
|
NC_012920.1(MT-ND5):m.13204G>A
|
rs1603224089
|
|
NC_012920.1(MT-ND5):m.13204G>C
|
rs1603224089
|
|
NC_012920.1(MT-ND5):m.13225G>A
|
rs1603224098
|
|
NC_012920.1(MT-ND5):m.13240G>A
|
rs1603224103
|
|
NC_012920.1(MT-ND5):m.13246T>C
|
rs1556424250
|
|
NC_012920.1(MT-ND5):m.13276A>G
|
rs2853502
|
|
NC_012920.1(MT-ND5):m.13279G>A
|
rs1603224126
|
|
NC_012920.1(MT-ND5):m.13285A>G
|
rs1603224130
|
|
NC_012920.1(MT-ND5):m.13288G>A
|
rs1603224132
|
|
NC_012920.1(MT-ND5):m.13327A>G
|
rs1556424263
|
|
NC_012920.1(MT-ND5):m.13328C>A
|
rs1603224147
|
|
NC_012920.1(MT-ND5):m.13336T>C
|
rs1603224150
|
|
NC_012920.1(MT-ND5):m.13369T>C
|
rs1603224162
|
|
NC_012920.1(MT-ND5):m.13375A>G
|
rs1603224165
|
|
NC_012920.1(MT-ND5):m.13376T>C
|
rs1603224166
|
|
NC_012920.1(MT-ND5):m.13388A>G
|
rs1603224172
|
|
NC_012920.1(MT-ND5):m.13391A>G
|
rs1603224173
|
|
NC_012920.1(MT-ND5):m.13406G>A
|
rs1603224178
|
|
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|
|
NC_012920.1(MT-ND6):m.14660A>G
|
rs1603224821
|
|
NC_012920.1(MT-ND6):m.14667A>G
|
rs1603224822
|
|
NC_012920.1(MT-ND6):m.14670T>C
|
rs1603224824
|
|
NC_012920.1(MT-TK):m.8344A>G
|
rs118192098
|
|
NC_012920.1(MT-TK):m.8363G>A
|
rs118192100
|
|
NC_012920.1(MT-TL1):m.3243A>G
|
rs199474657
|
|
NC_012920.1(MT-TW):m.5523T>G
|
rs587776435
|
|
NC_012920.1(MT-TW):m.5537_5538insT
|
rs199474672
|
|
NC_012920.1(MT-TW):m.5559A>G
|
rs1556423008
|
|
NM_000108.5(DLD):c.*1027T>G
|
rs372098056
|
|
NM_000108.5(DLD):c.*1088A>G
|
rs886061912
|
|
NM_000108.5(DLD):c.*1231A>G
|
rs2032385167
|
|
NM_000108.5(DLD):c.*167T>C
|
rs886061909
|
|
NM_000108.5(DLD):c.*374G>T
|
rs576270082
|
|
NM_000108.5(DLD):c.*470G>A
|
rs111619940
|
|
NM_000108.5(DLD):c.*470G>T
|
rs111619940
|
|
NM_000108.5(DLD):c.*498T>G
|
rs886061911
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
NM_000108.5(DLD):c.*947G>T
|
rs7777259
|
|
NM_000108.5(DLD):c.-10C>T
|
rs1269120569
|
|
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
|
rs2032312825
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
|
rs2031981415
|
|
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.385G>A (p.Gly129Arg)
|
rs1057521059
|
|
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser)
|
rs1939494232
|
|
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
|
rs58447305
|
|
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs)
|
rs1574675683
|
|
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)
|
rs1574663066
|
|
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)
|
|
|
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)
|
|
|
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs)
|
rs2128375658
|
|
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.1096G>T (p.Val366Leu)
|
rs111541535
|
|
NM_001303.4(COX10):c.123G>A (p.Arg41=)
|
rs886052599
|
|
NM_001303.4(COX10):c.1305C>T (p.Gly435=)
|
rs199737206
|
|
NM_001303.4(COX10):c.64T>A (p.Trp22Arg)
|
rs540737897
|
|
NM_001303.4(COX10):c.675G>T (p.Pro225=)
|
rs199609301
|
|
NM_001303.4(COX10):c.929-9_929-7dup
|
rs144296730
|
|
NM_001697.3(ATP5PO):c.87+3A>G
|
rs1987287870
|
|
NM_002488.5(NDUFA2):c.31G>C (p.Gly11Arg)
|
rs375905956
|
|
NM_002495.4(NDUFS4):c.*79A>G
|
rs886060699
|
|
NM_002495.4(NDUFS4):c.*88T>A
|
rs1740746273
|
|
NM_002495.4(NDUFS4):c.-6A>T
|
rs73754255
|
|
NM_002495.4(NDUFS4):c.178-2A>G
|
rs1554059248
|
|
NM_002495.4(NDUFS4):c.178-4G>C
|
rs200384843
|
|
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
|
|
|
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)
|
rs121908985
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
NM_002495.4(NDUFS4):c.350+1G>A
|
rs1260453815
|
|
NM_002495.4(NDUFS4):c.350+1G>T
|
|
|
NM_002495.4(NDUFS4):c.351-11_351-8del
|
rs375549253
|
|
NM_002495.4(NDUFS4):c.424+19dup
|
rs140172554
|
|
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)
|
rs587776949
|
|
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)
|
rs1445075330
|
|
NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer)
|
rs1554062427
|
|
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)
|
rs1740730588
|
|
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs)
|
|
|
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.199+15T>G
|
rs3115545
|
|
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)
|
rs746246241
|
|
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)
|
rs1267554976
|
|
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met)
|
rs1277027467
|
|
NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu)
|
rs201017561
|
|
NM_003172.2(SURF1):c.-37C>T
|
rs523304
|
|
NM_003172.4(SURF1):c.*93C>T
|
rs1836416878
|
|
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)
|
rs863224229
|
|
NM_003172.4(SURF1):c.106+10G>A
|
|
|
NM_003172.4(SURF1):c.106+12A>G
|
|
|
NM_003172.4(SURF1):c.106+14G>A
|
|
|
NM_003172.4(SURF1):c.106+15C>T
|
rs781892153
|
|
NM_003172.4(SURF1):c.106+15_106+16insA
|
|
|
NM_003172.4(SURF1):c.106+16C>A
|
|
|
NM_003172.4(SURF1):c.106+16C>G
|
|
|
NM_003172.4(SURF1):c.106+16C>T
|
|
|
NM_003172.4(SURF1):c.106+18G>C
|
|
|
NM_003172.4(SURF1):c.106+19G>A
|
|
|
NM_003172.4(SURF1):c.106+19G>T
|
|
|
NM_003172.4(SURF1):c.106+1G>C
|
rs863224926
|
|
NM_003172.4(SURF1):c.106+6G>A
|
|
|
NM_003172.4(SURF1):c.106+7G>A
|
|
|
NM_003172.4(SURF1):c.106+7G>T
|
rs1836579608
|
|
NM_003172.4(SURF1):c.106+7del
|
|
|
NM_003172.4(SURF1):c.107-15T>C
|
|
|
NM_003172.4(SURF1):c.107-17G>A
|
|
|
NM_003172.4(SURF1):c.107-17G>T
|
|
|
NM_003172.4(SURF1):c.107-4C>G
|
|
|
NM_003172.4(SURF1):c.107-5T>C
|
|
|
NM_003172.4(SURF1):c.107-7T>G
|
|
|
NM_003172.4(SURF1):c.107-8C>T
|
|
|
NM_003172.4(SURF1):c.108G>C (p.Gly36=)
|
|
|
NM_003172.4(SURF1):c.109dup
|
|
|
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs)
|
rs1588693841
|
|
NM_003172.4(SURF1):c.126C>T (p.Ser42=)
|
|
|
NM_003172.4(SURF1):c.129A>G (p.Arg43=)
|
|
|
NM_003172.4(SURF1):c.153A>G (p.Ala51=)
|
|
|
NM_003172.4(SURF1):c.159_199dup (p.Leu67fs)
|
|
|
NM_003172.4(SURF1):c.161C>G (p.Thr54Arg)
|
rs781958165
|
|
NM_003172.4(SURF1):c.163A>G (p.Lys55Glu)
|
rs2119085332
|
|
NM_003172.4(SURF1):c.168G>A (p.Ala56=)
|
|
|
NM_003172.4(SURF1):c.16G>T (p.Ala6Ser)
|
rs2119089250
|
|
NM_003172.4(SURF1):c.171A>G (p.Glu57=)
|
|
|
NM_003172.4(SURF1):c.179C>G (p.Ser60Cys)
|
|
|
NM_003172.4(SURF1):c.180C>T (p.Ser60=)
|
|
|
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
|
rs1433471292
|
|
NM_003172.4(SURF1):c.189G>A (p.Gln63=)
|
|
|
NM_003172.4(SURF1):c.18G>A (p.Ala6=)
|
|
|
NM_003172.4(SURF1):c.18G>C (p.Ala6=)
|
|
|
NM_003172.4(SURF1):c.18G>T (p.Ala6=)
|
rs1256975566
|
|
NM_003172.4(SURF1):c.190T>C (p.Trp64Arg)
|
|
|
NM_003172.4(SURF1):c.195C>T (p.Val65=)
|
|
|
NM_003172.4(SURF1):c.19_35del (p.Leu7fs)
|
rs1836590086
|
|
NM_003172.4(SURF1):c.19_35dup (p.Ala13fs)
|
|
|
NM_003172.4(SURF1):c.1A>G (p.Met1Val)
|
|
|
NM_003172.4(SURF1):c.1A>T (p.Met1Leu)
|
|
|
NM_003172.4(SURF1):c.1_9dup (p.Met1_Ala3dup)
|
rs1477692276
|
|
NM_003172.4(SURF1):c.200T>C (p.Leu67Pro)
|
|
|
NM_003172.4(SURF1):c.201C>T (p.Leu67=)
|
|
|
NM_003172.4(SURF1):c.202C>T (p.Leu68Phe)
|
|
|
NM_003172.4(SURF1):c.204C>G (p.Leu68=)
|
|
|
NM_003172.4(SURF1):c.204C>T (p.Leu68=)
|
|
|
NM_003172.4(SURF1):c.208C>T (p.Pro70Ser)
|
|
|
NM_003172.4(SURF1):c.211G>T (p.Val71Leu)
|
rs147993882
|
|
NM_003172.4(SURF1):c.212T>C (p.Val71Ala)
|
|
|
NM_003172.4(SURF1):c.219C>G (p.Ala73=)
|
|
|
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
|
rs782036327
|
|
NM_003172.4(SURF1):c.226T>G (p.Leu76Val)
|
|
|
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)
|
rs1836590782
|
|
NM_003172.4(SURF1):c.233C>T (p.Thr78Ile)
|
|
|
NM_003172.4(SURF1):c.234A>G (p.Thr78=)
|
|
|
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)
|
rs1244071473
|
|
NM_003172.4(SURF1):c.240+11G>C
|
|
|
NM_003172.4(SURF1):c.240+12C>T
|
|
|
NM_003172.4(SURF1):c.240+15C>T
|
|
|
NM_003172.4(SURF1):c.240+15_240+21del
|
rs782039658
|
|
NM_003172.4(SURF1):c.240+17G>A
|
|
|
NM_003172.4(SURF1):c.240+1G>A
|
|
|
NM_003172.4(SURF1):c.240+6G>A
|
rs587676139
|
|
NM_003172.4(SURF1):c.240+9C>A
|
|
|
NM_003172.4(SURF1):c.241-11T>C
|
|
|
NM_003172.4(SURF1):c.241-12C>G
|
|
|
NM_003172.4(SURF1):c.241-14C>T
|
|
|
NM_003172.4(SURF1):c.241-15G>C
|
|
|
NM_003172.4(SURF1):c.241-15G>T
|
rs1247921829
|
|
NM_003172.4(SURF1):c.241-16T>A
|
rs146939127
|
|
NM_003172.4(SURF1):c.241-16T>C
|
|
|
NM_003172.4(SURF1):c.241-7A>G
|
rs997493975
|
|
NM_003172.4(SURF1):c.243C>G (p.Val81=)
|
rs1277150134
|
|
NM_003172.4(SURF1):c.245A>T (p.Gln82Leu)
|
|
|
NM_003172.4(SURF1):c.247C>T (p.Arg83Cys)
|
|
|
NM_003172.4(SURF1):c.24G>A (p.Gln8=)
|
|
|
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro)
|
rs782044026
|
|
NM_003172.4(SURF1):c.252G>T (p.Arg84=)
|
|
|
NM_003172.4(SURF1):c.25C>T (p.Leu9=)
|
|
|
NM_003172.4(SURF1):c.260A>G (p.Lys87Arg)
|
|
|
NM_003172.4(SURF1):c.262C>T (p.Leu88=)
|
|
|
NM_003172.4(SURF1):c.266_271del (p.Asn89_Leu90del)
|
rs2119085074
|
|
NM_003172.4(SURF1):c.267C>T (p.Asn89=)
|
|
|
NM_003172.4(SURF1):c.273del (p.Ile91fs)
|
rs2119085056
|
|
NM_003172.4(SURF1):c.276A>C (p.Ala92=)
|
|
|
NM_003172.4(SURF1):c.276A>G (p.Ala92=)
|
|
|
NM_003172.4(SURF1):c.279G>A (p.Glu93=)
|
|
|
NM_003172.4(SURF1):c.27G>A (p.Leu9=)
|
|
|
NM_003172.4(SURF1):c.27G>C (p.Leu9=)
|
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
NM_003172.4(SURF1):c.282G>A (p.Leu94=)
|
|
|
NM_003172.4(SURF1):c.283del (p.Glu95fs)
|
rs2119085025
|
|
NM_003172.4(SURF1):c.283dup (p.Glu95fs)
|
|
|
NM_003172.4(SURF1):c.285G>A (p.Glu95=)
|
|
|
NM_003172.4(SURF1):c.28G>A (p.Gly10Arg)
|
|
|
NM_003172.4(SURF1):c.291A>G (p.Arg97=)
|
|
|
NM_003172.4(SURF1):c.295C>G (p.Leu99Val)
|
|
|
NM_003172.4(SURF1):c.297G>C (p.Leu99=)
|
|
|
NM_003172.4(SURF1):c.303G>A (p.Glu101=)
|
rs1554768670
|
|
NM_003172.4(SURF1):c.304C>G (p.Pro102Ala)
|
|
|
NM_003172.4(SURF1):c.306T>G (p.Pro102=)
|
|
|
NM_003172.4(SURF1):c.309C>A (p.Val103=)
|
|
|
NM_003172.4(SURF1):c.30G>A (p.Gly10=)
|
|
|
NM_003172.4(SURF1):c.30G>T (p.Gly10=)
|
|
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228
|
|
NM_003172.4(SURF1):c.321C>A (p.Ala107=)
|
|
|
NM_003172.4(SURF1):c.321C>G (p.Ala107=)
|
|
|
NM_003172.4(SURF1):c.323+11G>A
|
|
|
NM_003172.4(SURF1):c.323+11G>T
|
|
|
NM_003172.4(SURF1):c.323+12G>C
|
|
|
NM_003172.4(SURF1):c.323+14T>G
|
|
|
NM_003172.4(SURF1):c.323+16C>T
|
|
|
NM_003172.4(SURF1):c.323+18C>A
|
|
|
NM_003172.4(SURF1):c.323+18C>T
|
|
|
NM_003172.4(SURF1):c.323+19C>A
|
|
|
NM_003172.4(SURF1):c.323+19C>G
|
rs368538379
|
|
NM_003172.4(SURF1):c.323+19C>T
|
|
|
NM_003172.4(SURF1):c.323+20C>A
|
rs376340323
|
|
NM_003172.4(SURF1):c.323+20C>G
|
rs376340323
|
|
NM_003172.4(SURF1):c.323+20C>T
|
|
|
NM_003172.4(SURF1):c.323+7G>A
|
|
|
NM_003172.4(SURF1):c.323+7G>C
|
|
|
NM_003172.4(SURF1):c.323+9A>C
|
|
|
NM_003172.4(SURF1):c.324-10_324-9insAGA
|
rs1299986010
|
|
NM_003172.4(SURF1):c.324-11T>G
|
rs375398247
|
|
NM_003172.4(SURF1):c.324-15C>T
|
|
|
NM_003172.4(SURF1):c.324-19T>C
|
rs369080027
|
|
NM_003172.4(SURF1):c.324-19T>G
|
rs369080027
|
|
NM_003172.4(SURF1):c.324-3C>G
|
rs2119083618
|
|
NM_003172.4(SURF1):c.324-6A>G
|
|
|
NM_003172.4(SURF1):c.329T>C (p.Met110Thr)
|
rs1189141759
|
|
NM_003172.4(SURF1):c.32T>C (p.Leu11Pro)
|
rs1773521003
|
|
NM_003172.4(SURF1):c.32T>G (p.Leu11Arg)
|
rs1773521003
|
|
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs)
|
rs1410388157
|
|
NM_003172.4(SURF1):c.334C>T (p.Leu112=)
|
|
|
NM_003172.4(SURF1):c.338A>G (p.Lys113Arg)
|
rs2119083584
|
|
NM_003172.4(SURF1):c.343C>T (p.Leu115=)
|
rs1255547783
|
|
NM_003172.4(SURF1):c.347A>G (p.Glu116Gly)
|
rs1018457058
|
|
NM_003172.4(SURF1):c.348G>A (p.Glu116=)
|
|
|
NM_003172.4(SURF1):c.34C>A (p.Arg12=)
|
|
|
NM_003172.4(SURF1):c.352A>G (p.Arg118Gly)
|
|
|
NM_003172.4(SURF1):c.357A>G (p.Pro119=)
|
|
|
NM_003172.4(SURF1):c.35G>T (p.Arg12Leu)
|
|
|
NM_003172.4(SURF1):c.360G>A (p.Val120=)
|
|
|
NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)
|
|
|
NM_003172.4(SURF1):c.363G>C (p.Lys121Asn)
|
|
|
NM_003172.4(SURF1):c.367_368del (p.Arg123fs)
|
rs2119083553
|
|
NM_003172.4(SURF1):c.369G>C (p.Arg123Ser)
|
|
|
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu)
|
rs28933402
|
|
NM_003172.4(SURF1):c.372G>A (p.Gly124=)
|
|
|
NM_003172.4(SURF1):c.372G>T (p.Gly124=)
|
|
|
NM_003172.4(SURF1):c.380A>C (p.Asp127Ala)
|
rs782197597
|
|
NM_003172.4(SURF1):c.384T>C (p.His128=)
|
|
|
NM_003172.4(SURF1):c.387C>A (p.Ser129=)
|
|
|
NM_003172.4(SURF1):c.387C>G (p.Ser129=)
|
|
|
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
|
|
|
NM_003172.4(SURF1):c.398A>G (p.Tyr133Cys)
|
|
|
NM_003172.4(SURF1):c.3G>A (p.Met1Ile)
|
|
|
NM_003172.4(SURF1):c.400A>T (p.Met134Leu)
|
rs2119083514
|
|
NM_003172.4(SURF1):c.406C>T (p.Pro136Ser)
|
|
|
NM_003172.4(SURF1):c.407C>T (p.Pro136Leu)
|
|
|
NM_003172.4(SURF1):c.410G>A (p.Arg137Gln)
|
|
|
NM_003172.4(SURF1):c.414C>T (p.Thr138=)
|
|
|
NM_003172.4(SURF1):c.416T>C (p.Met139Thr)
|
|
|
NM_003172.4(SURF1):c.41_50dup (p.Arg18fs)
|
|
|
NM_003172.4(SURF1):c.426T>C (p.Pro142=)
|
|
|
NM_003172.4(SURF1):c.427G>A (p.Val143Ile)
|
|
|
NM_003172.4(SURF1):c.42G>A (p.Ala14=)
|
|
|
NM_003172.4(SURF1):c.430C>T (p.Arg144Trp)
|
|
|
NM_003172.4(SURF1):c.431G>A (p.Arg144Gln)
|
|
|
NM_003172.4(SURF1):c.432G>A (p.Arg144=)
|
|
|
NM_003172.4(SURF1):c.435G>A (p.Glu145=)
|
|
|
NM_003172.4(SURF1):c.437_445del (p.Ala146_Glu148del)
|
rs782387264
|
|
NM_003172.4(SURF1):c.440G>A (p.Arg147Gln)
|
|
|
NM_003172.4(SURF1):c.441G>A (p.Arg147=)
|
|
|
NM_003172.4(SURF1):c.442G>A (p.Glu148Lys)
|
|
|
NM_003172.4(SURF1):c.444G>A (p.Glu148=)
|
|
|
NM_003172.4(SURF1):c.453C>T (p.Leu151=)
|
|
|
NM_003172.4(SURF1):c.456C>A (p.Ile152=)
|
|
|
NM_003172.4(SURF1):c.456CTC[2] (p.Ser155del)
|
rs782208909
|
|
NM_003172.4(SURF1):c.459C>A (p.Ser153=)
|
|
|
NM_003172.4(SURF1):c.45G>C (p.Gly15=)
|
|
|
NM_003172.4(SURF1):c.45G>T (p.Gly15=)
|
|
|
NM_003172.4(SURF1):c.464C>T (p.Ser155Leu)
|
|
|
NM_003172.4(SURF1):c.465_466del (p.Thr156fs)
|
rs1564349176
|
|
NM_003172.4(SURF1):c.468T>C (p.Thr156=)
|
|
|
NM_003172.4(SURF1):c.470dup (p.Ser158fs)
|
|
|
NM_003172.4(SURF1):c.480C>T (p.Ala160=)
|
|
|
NM_003172.4(SURF1):c.482A>G (p.Tyr161Cys)
|
|
|
NM_003172.4(SURF1):c.485_486del (p.Val162fs)
|
rs2119083367
|
|
NM_003172.4(SURF1):c.486G>C (p.Val162=)
|
|
|
NM_003172.4(SURF1):c.487G>A (p.Val163Ile)
|
|
|
NM_003172.4(SURF1):c.489C>G (p.Val163=)
|
|
|
NM_003172.4(SURF1):c.489C>T (p.Val163=)
|
|
|
NM_003172.4(SURF1):c.491C>G (p.Thr164Ser)
|
|
|
NM_003172.4(SURF1):c.492T>A (p.Thr164=)
|
|
|
NM_003172.4(SURF1):c.495C>T (p.Pro165=)
|
|
|
NM_003172.4(SURF1):c.498C>T (p.Phe166=)
|
|
|
NM_003172.4(SURF1):c.500A>G (p.His167Arg)
|
rs373251271
|
|
NM_003172.4(SURF1):c.501C>T (p.His167=)
|
|
|
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)
|
rs1564349087
|
|
NM_003172.4(SURF1):c.510C>A (p.Asp170Glu)
|
|
|
NM_003172.4(SURF1):c.510C>G (p.Asp170Glu)
|
rs587683200
|
|
NM_003172.4(SURF1):c.510C>T (p.Asp170=)
|
|
|
NM_003172.4(SURF1):c.511C>T (p.Leu171=)
|
|
|
NM_003172.4(SURF1):c.512T>C (p.Leu171Pro)
|
rs1836495532
|
|
NM_003172.4(SURF1):c.515+12A>C
|
|
|
NM_003172.4(SURF1):c.515+12A>G
|
|
|
NM_003172.4(SURF1):c.515+12_515+13del
|
|
|
NM_003172.4(SURF1):c.515+13T>C
|
rs782781013
|
|
NM_003172.4(SURF1):c.515+14G>A
|
|
|
NM_003172.4(SURF1):c.515+15T>A
|
|
|
NM_003172.4(SURF1):c.515+15_515+17del
|
|
|
NM_003172.4(SURF1):c.515+17G>A
|
|
|
NM_003172.4(SURF1):c.515+1del
|
|
|
NM_003172.4(SURF1):c.516-11C>G
|
rs782375599
|
|
NM_003172.4(SURF1):c.516-11C>T
|
rs782375599
|
|
NM_003172.4(SURF1):c.516-12del
|
rs781784237
|
|
NM_003172.4(SURF1):c.516-18del
|
|
|
NM_003172.4(SURF1):c.516-20T>C
|
|
|
NM_003172.4(SURF1):c.516-6C>T
|
|
|
NM_003172.4(SURF1):c.51_54+1dup
|
rs2119089032
|
|
NM_003172.4(SURF1):c.525C>T (p.Ile175=)
|
rs966755440
|
|
NM_003172.4(SURF1):c.527del (p.Leu176fs)
|
|
|
NM_003172.4(SURF1):c.530T>G (p.Val177Gly)
|
|
|
NM_003172.4(SURF1):c.531A>G (p.Val177=)
|
|
|
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr)
|
rs587753385
|
|
NM_003172.4(SURF1):c.532_535del (p.Asn178fs)
|
rs1057517942
|
|
NM_003172.4(SURF1):c.533dup (p.Asn178fs)
|
|
|
NM_003172.4(SURF1):c.534T>C (p.Asn178=)
|
|
|
NM_003172.4(SURF1):c.534_535del (p.Asn178fs)
|
rs1242159511
|
|
NM_003172.4(SURF1):c.535dup (p.Arg179fs)
|
|
|
NM_003172.4(SURF1):c.538G>C (p.Gly180Arg)
|
rs1444801979
|
|
NM_003172.4(SURF1):c.54+10G>C
|
|
|
NM_003172.4(SURF1):c.54+11G>A
|
|
|
NM_003172.4(SURF1):c.54+12G>A
|
rs2119088908
|
|
NM_003172.4(SURF1):c.54+13TGCGGGG[5]
|
rs3041852
|
|
NM_003172.4(SURF1):c.54+15C>T
|
|
|
NM_003172.4(SURF1):c.54+16G>A
|
|
|
NM_003172.4(SURF1):c.54+17G>A
|
|
|
NM_003172.4(SURF1):c.54+19G>T
|
rs1208183470
|
|
NM_003172.4(SURF1):c.54+1G>A
|
|
|
NM_003172.4(SURF1):c.54+20_54+33del
|
|
|
NM_003172.4(SURF1):c.54+34_55-2del
|
|
|
NM_003172.4(SURF1):c.54+40_55del
|
|
|
NM_003172.4(SURF1):c.54+5_54+6delinsTT
|
|
|
NM_003172.4(SURF1):c.54+8C>T
|
|
|
NM_003172.4(SURF1):c.54+9C>T
|
|
|
NM_003172.4(SURF1):c.54+9_54+15del
|
rs2119088878
|
|
NM_003172.4(SURF1):c.54+9_54+22del
|
rs782659731
|
|
NM_003172.4(SURF1):c.54+9_54+29del
|
rs1564351370
|
|
NM_003172.4(SURF1):c.542T>A (p.Phe181Tyr)
|
rs2119081467
|
|
NM_003172.4(SURF1):c.542T>G (p.Phe181Cys)
|
|
|
NM_003172.4(SURF1):c.547C>T (p.Pro183Ser)
|
rs782765995
|
|
NM_003172.4(SURF1):c.549_566del (p.Arg184_Pro189del)
|
rs1836463353
|
|
NM_003172.4(SURF1):c.55-10G>A
|
|
|
NM_003172.4(SURF1):c.55-13T>C
|
|
|
NM_003172.4(SURF1):c.55-15C>G
|
|
|
NM_003172.4(SURF1):c.55-15C>T
|
|
|
NM_003172.4(SURF1):c.55-16CCGT[3]
|
|
|
NM_003172.4(SURF1):c.55-17C>A
|
|
|
NM_003172.4(SURF1):c.55-18G>T
|
|
|
NM_003172.4(SURF1):c.55-19C>T
|
|
|
NM_003172.4(SURF1):c.55-20C>T
|
|
|
NM_003172.4(SURF1):c.55-2A>G
|
|
|
NM_003172.4(SURF1):c.55-4G>A
|
|
|
NM_003172.4(SURF1):c.55-4G>C
|
rs927604495
|
|
NM_003172.4(SURF1):c.55-5C>G
|
|
|
NM_003172.4(SURF1):c.55-5C>T
|
|
|
NM_003172.4(SURF1):c.552G>A (p.Arg184=)
|
|
|
NM_003172.4(SURF1):c.552del (p.Lys185fs)
|
rs782542152
|
|
NM_003172.4(SURF1):c.555_556del (p.Lys186fs)
|
rs1363125797
|
|
NM_003172.4(SURF1):c.55G>C (p.Ala19Pro)
|
rs1836582383
|
|
NM_003172.4(SURF1):c.573C>T (p.Thr191=)
|
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
NM_003172.4(SURF1):c.576G>A (p.Arg192=)
|
|
|
NM_003172.4(SURF1):c.577C>T (p.Gln193Ter)
|
rs782420522
|
|
NM_003172.4(SURF1):c.579_580del (p.Lys194fs)
|
|
|
NM_003172.4(SURF1):c.579del (p.Gly195fs)
|
|
|
NM_003172.4(SURF1):c.581_582del (p.Lys194fs)
|
|
|
NM_003172.4(SURF1):c.582A>G (p.Lys194=)
|
rs2119081390
|
|
NM_003172.4(SURF1):c.585C>T (p.Gly195=)
|
|
|
NM_003172.4(SURF1):c.588+10A>G
|
|
|
NM_003172.4(SURF1):c.588+11T>A
|
|
|
NM_003172.4(SURF1):c.588+11T>C
|
rs1340125652
|
|
NM_003172.4(SURF1):c.588+12G>A
|
|
|
NM_003172.4(SURF1):c.588+15C>G
|
|
|
NM_003172.4(SURF1):c.588+15C>T
|
|
|
NM_003172.4(SURF1):c.588+16T>C
|
|
|
NM_003172.4(SURF1):c.588+17C>T
|
|
|
NM_003172.4(SURF1):c.588+19T>C
|
|
|
NM_003172.4(SURF1):c.588+1G>A
|
rs1219762677
|
|
NM_003172.4(SURF1):c.588+1G>C
|
|
|
NM_003172.4(SURF1):c.588+8A>T
|
|
|
NM_003172.4(SURF1):c.588+9C>T
|
|
|
NM_003172.4(SURF1):c.588G>A (p.Gln196=)
|
|
|
NM_003172.4(SURF1):c.589-10T>G
|
|
|
NM_003172.4(SURF1):c.589-12C>T
|
|
|
NM_003172.4(SURF1):c.589-14A>G
|
|
|
NM_003172.4(SURF1):c.589-17C>T
|
|
|
NM_003172.4(SURF1):c.589-18A>C
|
|
|
NM_003172.4(SURF1):c.589-19C>G
|
|
|
NM_003172.4(SURF1):c.589-1G>C
|
|
|
NM_003172.4(SURF1):c.589-20T>C
|
|
|
NM_003172.4(SURF1):c.589-4A>G
|
rs2119081254
|
|
NM_003172.4(SURF1):c.589-5T>C
|
|
|
NM_003172.4(SURF1):c.589-7T>C
|
|
|
NM_003172.4(SURF1):c.589-8C>T
|
|
|
NM_003172.4(SURF1):c.589-9C>T
|
|
|
NM_003172.4(SURF1):c.58_59dup (p.Ala21fs)
|
rs2119088472
|
|
NM_003172.4(SURF1):c.595_598del (p.Gly199fs)
|
rs2119081217
|
|
NM_003172.4(SURF1):c.596G>A (p.Gly199Glu)
|
rs1836456450
|
|
NM_003172.4(SURF1):c.598G>C (p.Glu200Gln)
|
|
|
NM_003172.4(SURF1):c.59C>G (p.Pro20Arg)
|
|
|
NM_003172.4(SURF1):c.59C>T (p.Pro20Leu)
|
|
|
NM_003172.4(SURF1):c.606C>T (p.Asp202=)
|
|
|
NM_003172.4(SURF1):c.606_610dup (p.Ile204fs)
|
|
|
NM_003172.4(SURF1):c.607C>T (p.Leu203Phe)
|
|
|
NM_003172.4(SURF1):c.609C>T (p.Leu203=)
|
|
|
NM_003172.4(SURF1):c.611T>G (p.Ile204Ser)
|
rs1209784974
|
|
NM_003172.4(SURF1):c.621G>A (p.Val207=)
|
|
|
NM_003172.4(SURF1):c.627G>A (p.Leu209=)
|
|
|
NM_003172.4(SURF1):c.630A>G (p.Thr210=)
|
|
|
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)
|
rs1554768333
|
|
NM_003172.4(SURF1):c.632_642del (p.Glu211fs)
|
rs781954439
|
|
NM_003172.4(SURF1):c.636C>T (p.Thr212=)
|
rs1293829440
|
|
NM_003172.4(SURF1):c.638G>C (p.Arg213Thr)
|
|
|
NM_003172.4(SURF1):c.639G>A (p.Arg213=)
|
|
|
NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)
|
|
|
NM_003172.4(SURF1):c.641_643del (p.Gln214del)
|
rs2119081112
|
|
NM_003172.4(SURF1):c.643C>T (p.Pro215Ser)
|
|
|
NM_003172.4(SURF1):c.648T>C (p.Phe216=)
|
|
|
NM_003172.4(SURF1):c.654T>C (p.Pro218=)
|
|
|
NM_003172.4(SURF1):c.655G>C (p.Glu219Gln)
|
|
|
NM_003172.4(SURF1):c.657G>C (p.Glu219Asp)
|
|
|
NM_003172.4(SURF1):c.65del (p.Ser22fs)
|
|
|
NM_003172.4(SURF1):c.661A>G (p.Asn221Asp)
|
|
|
NM_003172.4(SURF1):c.665C>G (p.Pro222Arg)
|
|
|
NM_003172.4(SURF1):c.668A>G (p.Glu223Gly)
|
|
|
NM_003172.4(SURF1):c.678C>T (p.His226=)
|
rs2119081052
|
|
NM_003172.4(SURF1):c.679T>A (p.Trp227Arg)
|
rs398122806
|
|
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)
|
rs1057520688
|
|
NM_003172.4(SURF1):c.692A>G (p.Asp231Gly)
|
|
|
NM_003172.4(SURF1):c.693C>G (p.Asp231Glu)
|
|
|
NM_003172.4(SURF1):c.694C>T (p.Leu232=)
|
|
|
NM_003172.4(SURF1):c.69C>A (p.Ala23=)
|
|
|
NM_003172.4(SURF1):c.69C>T (p.Ala23=)
|
|
|
NM_003172.4(SURF1):c.6G>A (p.Ala2=)
|
rs997217991
|
|
NM_003172.4(SURF1):c.6_22dup (p.Gln8fs)
|
|
|
NM_003172.4(SURF1):c.700G>C (p.Ala234Pro)
|
|
|
NM_003172.4(SURF1):c.701C>G (p.Ala234Gly)
|
|
|
NM_003172.4(SURF1):c.703A>C (p.Met235Leu)
|
|
|
NM_003172.4(SURF1):c.703A>G (p.Met235Val)
|
rs782437393
|
|
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr)
|
rs781807153
|
|
NM_003172.4(SURF1):c.707C>T (p.Ala236Val)
|
|
|
NM_003172.4(SURF1):c.708C>T (p.Ala236=)
|
|
|
NM_003172.4(SURF1):c.713T>C (p.Ile238Thr)
|
rs1318116962
|
|
NM_003172.4(SURF1):c.723A>G (p.Ala241=)
|
|
|
NM_003172.4(SURF1):c.727C>A (p.Pro243Thr)
|
|
|
NM_003172.4(SURF1):c.728C>T (p.Pro243Leu)
|
|
|
NM_003172.4(SURF1):c.729C>T (p.Pro243=)
|
|
|
NM_003172.4(SURF1):c.72C>T (p.Ala24=)
|
|
|
NM_003172.4(SURF1):c.732C>T (p.Ile244=)
|
|
|
NM_003172.4(SURF1):c.738T>C (p.Ile246=)
|
|
|
NM_003172.4(SURF1):c.741T>C (p.Asp247=)
|
|
|
NM_003172.4(SURF1):c.747C>A (p.Asn249Lys)
|
rs1208965322
|
|
NM_003172.4(SURF1):c.747C>T (p.Asn249=)
|
|
|
NM_003172.4(SURF1):c.750C>G (p.Phe250Leu)
|
rs782109120
|
|
NM_003172.4(SURF1):c.751+10G>A
|
|
|
NM_003172.4(SURF1):c.751+12A>G
|
|
|
NM_003172.4(SURF1):c.751+13C>T
|
|
|
NM_003172.4(SURF1):c.751+15A>G
|
|
|
NM_003172.4(SURF1):c.751+16G>T
|
|
|
NM_003172.4(SURF1):c.751+1G>A
|
|
|
NM_003172.4(SURF1):c.751+7T>C
|
|
|
NM_003172.4(SURF1):c.751del (p.Gln251fs)
|
|
|
NM_003172.4(SURF1):c.752-10G>A
|
|
|
NM_003172.4(SURF1):c.752-10G>C
|
rs782262936
|
|
NM_003172.4(SURF1):c.752-11T>C
|
|
|
NM_003172.4(SURF1):c.752-14T>C
|
|
|
NM_003172.4(SURF1):c.752-14T>G
|
rs781967602
|
|
NM_003172.4(SURF1):c.752-15_752-14del
|
rs2119080171
|
|
NM_003172.4(SURF1):c.752-17G>C
|
|
|
NM_003172.4(SURF1):c.752-18A>G
|
|
|
NM_003172.4(SURF1):c.752-20dup
|
|
|
NM_003172.4(SURF1):c.752-3C>G
|
|
|
NM_003172.4(SURF1):c.752-8C>T
|
|
|
NM_003172.4(SURF1):c.753G>A (p.Gln251=)
|
|
|
NM_003172.4(SURF1):c.754_755del
|
rs782007828
|
|
NM_003172.4(SURF1):c.758C>G (p.Thr253Arg)
|
|
|
NM_003172.4(SURF1):c.758_759del (p.Thr253fs)
|
rs782349178
|
|
NM_003172.4(SURF1):c.759A>G (p.Thr253=)
|
|
|
NM_003172.4(SURF1):c.759dup (p.Val254fs)
|
rs1554768246
|
|
NM_003172.4(SURF1):c.75GAG[3] (p.Arg26_Ser27insArg)
|
|
|
NM_003172.4(SURF1):c.762C>G (p.Val254=)
|
|
|
NM_003172.4(SURF1):c.763C>T (p.Pro255Ser)
|
|
|
NM_003172.4(SURF1):c.764C>A (p.Pro255His)
|
|
|
NM_003172.4(SURF1):c.764del (p.Pro255fs)
|
|
|
NM_003172.4(SURF1):c.765T>C (p.Pro255=)
|
|
|
NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)
|
|
|
NM_003172.4(SURF1):c.771A>C (p.Gly257=)
|
|
|
NM_003172.4(SURF1):c.771A>G (p.Gly257=)
|
|
|
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser)
|
rs1053850536
|
|
NM_003172.4(SURF1):c.773C>G (p.Pro258Arg)
|
|
|
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
|
|
|
NM_003172.4(SURF1):c.773_784del (p.Pro258_Gly261del)
|
rs1333638410
|
|
NM_003172.4(SURF1):c.775A>G (p.Ile259Val)
|
|
|
NM_003172.4(SURF1):c.776T>C (p.Ile259Thr)
|
|
|
NM_003172.4(SURF1):c.786A>G (p.Gln262=)
|
|
|
NM_003172.4(SURF1):c.788C>G (p.Thr263Ser)
|
rs2119080085
|
|
NM_003172.4(SURF1):c.789C>G (p.Thr263=)
|
|
|
NM_003172.4(SURF1):c.78G>A (p.Arg26=)
|
rs1399819839
|
|
NM_003172.4(SURF1):c.792_793del (p.Arg264fs)
|
rs782490558
|
|
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
|
rs1588688823
|
|
NM_003172.4(SURF1):c.795T>C (p.Val265=)
|
|
|
NM_003172.4(SURF1):c.795_804dup (p.Asn269fs)
|
|
|
NM_003172.4(SURF1):c.796A>T (p.Thr266Ser)
|
|
|
NM_003172.4(SURF1):c.798T>C (p.Thr266=)
|
|
|
NM_003172.4(SURF1):c.799C>T (p.Leu267=)
|
|
|
NM_003172.4(SURF1):c.799_800del (p.Leu267fs)
|
rs864309500
|
|
NM_003172.4(SURF1):c.800T>C (p.Leu267Pro)
|
|
|
NM_003172.4(SURF1):c.804del (p.Asn269fs)
|
|
|
NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)
|
|
|
NM_003172.4(SURF1):c.808_812del (p.Glu270fs)
|
rs1836430953
|
|
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)
|
rs1554768224
|
|
NM_003172.4(SURF1):c.808_817dup (p.Gln273fs)
|
|
|
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup)
|
rs782161777
|
|
NM_003172.4(SURF1):c.810G>A (p.Glu270=)
|
|
|
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)
|
rs782488388
|
|
NM_003172.4(SURF1):c.814C>T (p.Leu272=)
|
|
|
NM_003172.4(SURF1):c.815T>C (p.Leu272Pro)
|
|
|
NM_003172.4(SURF1):c.815_825dup (p.Val276fs)
|
rs1220688120
|
|
NM_003172.4(SURF1):c.816G>A (p.Leu272=)
|
|
|
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
|
|
|
NM_003172.4(SURF1):c.818_825dup (p.Val276fs)
|
|
|
NM_003172.4(SURF1):c.820_824dup (p.Val276fs)
|
|
|
NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)
|
|
|
NM_003172.4(SURF1):c.822C>T (p.Tyr274=)
|
|
|
NM_003172.4(SURF1):c.823A>C (p.Ile275Leu)
|
rs1050473947
|
|
NM_003172.4(SURF1):c.823A>G (p.Ile275Val)
|
|
|
NM_003172.4(SURF1):c.823A>T (p.Ile275Phe)
|
rs1050473947
|
|
NM_003172.4(SURF1):c.827T>C (p.Val276Ala)
|
|
|
NM_003172.4(SURF1):c.828G>A (p.Val276=)
|
|
|
NM_003172.4(SURF1):c.831C>A (p.Thr277=)
|
|
|
NM_003172.4(SURF1):c.831C>G (p.Thr277=)
|
|
|
NM_003172.4(SURF1):c.831C>T (p.Thr277=)
|
|
|
NM_003172.4(SURF1):c.833+10del
|
|
|
NM_003172.4(SURF1):c.833+11A>T
|
|
|
NM_003172.4(SURF1):c.833+12G>T
|
|
|
NM_003172.4(SURF1):c.833+15G>C
|
|
|
NM_003172.4(SURF1):c.833+16C>T
|
|
|
NM_003172.4(SURF1):c.833+17C>T
|
|
|
NM_003172.4(SURF1):c.833+18C>G
|
|
|
NM_003172.4(SURF1):c.833+19T>C
|
|
|
NM_003172.4(SURF1):c.833+19T>G
|
|
|
NM_003172.4(SURF1):c.833+1G>A
|
rs782609482
|
|
NM_003172.4(SURF1):c.833+1G>C
|
rs782609482
|
|
NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC
|
rs2119079909
|
|
NM_003172.4(SURF1):c.833+3G>A
|
rs587699821
|
|
NM_003172.4(SURF1):c.833+7C>T
|
|
|
NM_003172.4(SURF1):c.834-10C>G
|
|
|
NM_003172.4(SURF1):c.834-11T>C
|
|
|
NM_003172.4(SURF1):c.834-11T>G
|
|
|
NM_003172.4(SURF1):c.834-13_834-9dup
|
|
|
NM_003172.4(SURF1):c.834-14C>G
|
|
|
NM_003172.4(SURF1):c.834-15G>C
|
|
|
NM_003172.4(SURF1):c.834-17T>C
|
|
|
NM_003172.4(SURF1):c.834-4dup
|
|
|
NM_003172.4(SURF1):c.834-6C>T
|
|
|
NM_003172.4(SURF1):c.834-9A>T
|
|
|
NM_003172.4(SURF1):c.836A>T (p.Tyr279Phe)
|
rs587758543
|
|
NM_003172.4(SURF1):c.837T>G (p.Tyr279Ter)
|
|
|
NM_003172.4(SURF1):c.838_839dup (p.Leu281fs)
|
|
|
NM_003172.4(SURF1):c.83T>C (p.Val28Ala)
|
|
|
NM_003172.4(SURF1):c.845C>G (p.Ser282Cys)
|
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003172.4(SURF1):c.846T>C (p.Ser282=)
|
|
|
NM_003172.4(SURF1):c.847G>A (p.Ala283Thr)
|
rs139025632
|
|
NM_003172.4(SURF1):c.849A>T (p.Ala283=)
|
|
|
NM_003172.4(SURF1):c.850G>C (p.Ala284Pro)
|
|
|
NM_003172.4(SURF1):c.855A>G (p.Thr285=)
|
rs956430151
|
|
NM_003172.4(SURF1):c.856T>G (p.Ser286Ala)
|
rs2119079774
|
|
NM_003172.4(SURF1):c.858C>T (p.Ser286=)
|
|
|
NM_003172.4(SURF1):c.861C>T (p.Tyr287=)
|
|
|
NM_003172.4(SURF1):c.862C>T (p.Leu288=)
|
|
|
NM_003172.4(SURF1):c.863T>A (p.Leu288Gln)
|
rs200841752
|
|
NM_003172.4(SURF1):c.864G>A (p.Leu288=)
|
|
|
NM_003172.4(SURF1):c.864G>T (p.Leu288=)
|
|
|
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)
|
rs2119079745
|
|
NM_003172.4(SURF1):c.870del (p.Phe290fs)
|
|
|
NM_003172.4(SURF1):c.870dup (p.Lys291Ter)
|
rs782061187
|
|
NM_003172.4(SURF1):c.879C>G (p.Phe293Leu)
|
|
|
NM_003172.4(SURF1):c.87C>T (p.Leu29=)
|
|
|
NM_003172.4(SURF1):c.882A>G (p.Leu294=)
|
rs2119079701
|
|
NM_003172.4(SURF1):c.882A>T (p.Leu294=)
|
|
|
NM_003172.4(SURF1):c.884G>A (p.Arg295His)
|
|
|
NM_003172.4(SURF1):c.884G>T (p.Arg295Leu)
|
rs369247238
|
|
NM_003172.4(SURF1):c.888G>C (p.Gly296=)
|
|
|
NM_003172.4(SURF1):c.891A>C (p.Thr297=)
|
|
|
NM_003172.4(SURF1):c.891A>G (p.Thr297=)
|
|
|
NM_003172.4(SURF1):c.898G>A (p.Val300Met)
|
rs782746186
|
|
NM_003172.4(SURF1):c.8C>T (p.Ala3Val)
|
rs966145163
|
|
NM_003172.4(SURF1):c.903A>G (p.Ter301Trp)
|
|
|
NM_003172.4(SURF1):c.903A>T (p.Ter301Cys)
|
|
|
NM_003172.4(SURF1):c.90G>A (p.Arg30=)
|
|
|
NM_003172.4(SURF1):c.93C>T (p.Val31=)
|
rs2119088398
|
|
NM_003172.4(SURF1):c.96C>T (p.Ser32=)
|
|
|
NM_003172.4(SURF1):c.97C>G (p.Pro33Ala)
|
rs1295640591
|
|
NM_003172.4(SURF1):c.98C>G (p.Pro33Arg)
|
|
|
NM_003172.4(SURF1):c.9G>A (p.Ala3=)
|
|
|
NM_003172.4(SURF1):c.9G>T (p.Ala3=)
|
|
|
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)
|
rs746519257
|
|
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)
|
rs587776497
|
|
NM_004168.3(SDHA):c.-84dup
|
rs35805262
|
|
NM_004168.4(SDHA):c.*75A>G
|
rs886060517
|
|
NM_004168.4(SDHA):c.-1C>T
|
rs560932680
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004168.4(SDHA):c.1092C>T (p.Val364=)
|
rs886060515
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
NM_004168.4(SDHA):c.1794+105dup
|
rs1561011159
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu)
|
rs6962
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)
|
rs768693502
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
NM_004168.4(SDHA):c.771-11A>G
|
rs2288461
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
NM_004376.5(COX15):c.*3210C>T
|
rs886046598
|
|
NM_004376.5(COX15):c.*3755G>A
|
rs886046596
|
|
NM_004376.5(COX15):c.*4441G>C
|
rs886046594
|
|
NM_004376.6(COX15):c.-232C>T
|
rs886046613
|
|
NM_004376.6(COX15):c.-250G>C
|
rs985074355
|
|
NM_004376.6(COX15):c.-602C>A
|
rs886046616
|
|
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.1000-5del
|
rs138479490
|
|
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)
|
rs201449418
|
|
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu)
|
rs558134843
|
|
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=)
|
rs770747594
|
|
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val)
|
rs1258770997
|
|
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro)
|
rs1559403435
|
|
NM_004544.4(NDUFA10):c.558C>T (p.His186=)
|
rs1407750102
|
|
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)
|
rs148656779
|
|
NM_004544.4(NDUFA10):c.749+5G>A
|
rs1697147446
|
|
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly)
|
rs758042753
|
|
NM_004551.3(NDUFS3):c.-15C>G
|
rs950097510
|
|
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln)
|
rs1555198759
|
|
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His)
|
rs886048391
|
|
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met)
|
rs886044765
|
|
NM_004551.3(NDUFS3):c.381+5G>T
|
rs886048392
|
|
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg)
|
rs752314902
|
|
NM_004589.3(SCO1):c.-53delA
|
rs566330071
|
|
NM_004589.4(SCO1):c.*270T>A
|
rs76465133
|
|
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.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.224C>T (p.Pro75Leu)
|
rs370147170
|
|
NM_004589.4(SCO1):c.273G>A (p.Gly91=)
|
rs886052596
|
|
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.798G>C (p.Leu266Phe)
|
rs1397651609
|
|
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.1291C>T (p.Leu431Phe)
|
rs78042826
|
|
NM_005006.7(NDUFS1):c.1393-7_1393-3del
|
rs1559047521
|
|
NM_005006.7(NDUFS1):c.1393-7del
|
rs760292289
|
|
NM_005006.7(NDUFS1):c.154-10_154-9del
|
rs568965659
|
|
NM_005006.7(NDUFS1):c.154-126TAGA[8]
|
rs3217140
|
|
NM_005006.7(NDUFS1):c.154-126TAGA[9]
|
rs3217140
|
|
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.518T>G (p.Met173Arg)
|
rs747249702
|
|
NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp)
|
rs1575984450
|
|
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)
|
rs1127566
|
|
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)
|
rs774232299
|
|
NM_007103.3(NDUFV1):c.-111T>C
|
rs563140258
|
|
NM_007103.3(NDUFV1):c.-159G>T
|
rs1387676031
|
|
NM_007103.4(NDUFV1):c.*14C>T
|
rs886048590
|
|
NM_007103.4(NDUFV1):c.-34T>A
|
rs886048586
|
|
NM_007103.4(NDUFV1):c.-61A>G
|
rs947406124
|
|
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
|
|
|
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)
|
rs1591111808
|
|
NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs)
|
rs766830864
|
|
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)
|
rs1854932368
|
|
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)
|
rs147719815
|
|
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu)
|
rs886048587
|
|
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn)
|
rs886048588
|
|
NM_007103.4(NDUFV1):c.432G>T (p.Val144=)
|
rs144087607
|
|
NM_007103.4(NDUFV1):c.499del (p.Ser167fs)
|
|
|
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
|
|
|
NM_007103.4(NDUFV1):c.753_756del (p.Pro252fs)
|
rs1229474296
|
|
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu)
|
rs573896386
|
|
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val)
|
rs1432435322
|
|
NM_013247.5(HTRA2):c.1037A>T (p.Glu346Val)
|
|
|
NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu)
|
|
|
NM_015378.4(VPS13D):c.12662+1059C>G
|
|
|
NM_015378.4(VPS13D):c.8687C>T (p.Thr2896Met)
|
|
|
NM_015965.7(NDUFA13):c.194del (p.Phe65fs)
|
rs2061105702
|
|
NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter)
|
rs149481081
|
|
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
|
|
|
NM_017446.4(MRPL39):c.589-924G>A
|
rs1209423257
|
|
NM_017446.4(MRPL39):c.921+5G>A
|
|
|
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
|
|
|
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)
|
rs1555065162
|
|
NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)
|
rs1189650128
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)
|
rs373436822
|
|
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)
|
|
|
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs)
|
rs1592708249
|
|
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)
|
rs1131692037
|
|
NM_024120.5(NDUFAF5):c.181C>T (p.Arg61Trp)
|
rs200744738
|
|
NM_024120.5(NDUFAF5):c.222+8_222+15del
|
rs3831170
|
|
NM_024120.5(NDUFAF5):c.223-6C>T
|
rs1455353958
|
|
NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp)
|
rs761333847
|
|
NM_024120.5(NDUFAF5):c.233G>A (p.Arg78Gln)
|
rs181973913
|
|
NM_024120.5(NDUFAF5):c.235A>T (p.Ile79Phe)
|
rs1422440211
|
|
NM_024120.5(NDUFAF5):c.263+7G>A
|
rs1981364070
|
|
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs)
|
rs2147463824
|
|
NM_024120.5(NDUFAF5):c.30A>T (p.Leu10Phe)
|
rs766441991
|
|
NM_024120.5(NDUFAF5):c.425A>C (p.Glu142Ala)
|
|
|
NM_024120.5(NDUFAF5):c.519+2T>C
|
|
|
NM_024120.5(NDUFAF5):c.519+2T>G
|
rs2147534220
|
|
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
|
|
|
NM_024120.5(NDUFAF5):c.736G>T (p.Val246Phe)
|
rs1985448121
|
|
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe)
|
rs375461797
|
|
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.561C>A (p.Ala187=)
|
rs144570086
|
|
NM_032709.3(PYROXD2):c.1062+2T>G
|
|
|
NM_078470.6(COX15):c.*1242A>G
|
rs2036459883
|
|
NM_078470.6(COX15):c.*1361C>T
|
rs886046610
|
|
NM_078470.6(COX15):c.*1793G>A
|
rs574149332
|
|
NM_078470.6(COX15):c.*1957A>C
|
rs2036431642
|
|
NM_078470.6(COX15):c.*2301G>A
|
rs79573437
|
|
NM_078470.6(COX15):c.*2301G>C
|
rs79573437
|
|
NM_078470.6(COX15):c.*2459G>T
|
rs886046605
|
|
NM_078470.6(COX15):c.*2490T>C
|
rs886046604
|
|
NM_078470.6(COX15):c.*2595C>T
|
rs574033399
|
|
NM_078470.6(COX15):c.*2668C>G
|
rs886046603
|
|
NM_078470.6(COX15):c.*3362T>C
|
rs1296504635
|
|
NM_078470.6(COX15):c.*3638C>T
|
rs2036362442
|
|
NM_078470.6(COX15):c.-26A>G
|
rs2231677
|
|
NM_078470.6(COX15):c.-71T>C
|
rs886046612
|
|
NM_078470.6(COX15):c.1029C>A (p.Leu343=)
|
rs757725009
|
|
NM_078470.6(COX15):c.406G>C (p.Asp136His)
|
rs766429756
|
|
NM_078470.6(COX15):c.490A>G (p.Ile164Val)
|
rs749525116
|
|
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)
|
|
|
NM_078470.6(COX15):c.717G>T (p.Trp239Cys)
|
rs886046611
|
|
NM_078470.6(COX15):c.79_90+3delinsGACT
|
|
|
NM_078470.6(COX15):c.988-3C>T
|
rs745556177
|
|
NM_078470.6(COX15):c.988-8C>A
|
rs542092025
|
|
NM_133259.4(LRPPRC):c.*1355C>T
|
rs1670301374
|
|
NM_133259.4(LRPPRC):c.*1387_*1390dup
|
rs886056048
|
|
NM_133259.4(LRPPRC):c.*1435del
|
rs886056047
|
|
NM_133259.4(LRPPRC):c.*1445_*1456dup
|
rs57494476
|
|
NM_133259.4(LRPPRC):c.*1449_*1456dup
|
rs57494476
|
|
NM_133259.4(LRPPRC):c.*1498G>A
|
rs142253135
|
|
NM_133259.4(LRPPRC):c.*1652C>G
|
rs1139249
|
|
NM_133259.4(LRPPRC):c.*1653G>T
|
rs886056045
|
|
NM_133259.4(LRPPRC):c.*1665C>G
|
rs1139250
|
|
NM_133259.4(LRPPRC):c.*1684C>A
|
rs190524585
|
|
NM_133259.4(LRPPRC):c.*1685G>A
|
rs774874630
|
|
NM_133259.4(LRPPRC):c.*1689G>T
|
rs185767322
|
|
NM_133259.4(LRPPRC):c.*1717C>T
|
rs1670288685
|
|
NM_133259.4(LRPPRC):c.*1752C>G
|
rs1670287619
|
|
NM_133259.4(LRPPRC):c.*1806A>C
|
rs886056044
|
|
NM_133259.4(LRPPRC):c.*1895G>T
|
rs886056042
|
|
NM_133259.4(LRPPRC):c.*2041C>A
|
rs7581308
|
|
NM_133259.4(LRPPRC):c.*2041C>T
|
rs7581308
|
|
NM_133259.4(LRPPRC):c.*2042G>T
|
rs998481979
|
|
NM_133259.4(LRPPRC):c.*2048dup
|
rs546907287
|
|
NM_133259.4(LRPPRC):c.*2157T>A
|
rs1376980323
|
|
NM_133259.4(LRPPRC):c.*590C>T
|
rs886056050
|
|
NM_133259.4(LRPPRC):c.*647G>C
|
rs886056049
|
|
NM_133259.4(LRPPRC):c.*735C>G
|
rs1670322978
|
|
NM_133259.4(LRPPRC):c.1035A>G (p.Leu345=)
|
rs1673950990
|
|
NM_133259.4(LRPPRC):c.1038C>T (p.Val346=)
|
rs1673950899
|
|
NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs)
|
|
|
NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile)
|
|
|
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter)
|
rs1553410995
|
|
NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs)
|
rs2103713116
|
|
NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs)
|
|
|
NM_133259.4(LRPPRC):c.1156-13dup
|
rs747766605
|
|
NM_133259.4(LRPPRC):c.1156-2A>C
|
|
|
NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter)
|
|
|
NM_133259.4(LRPPRC):c.1165_1198del (p.Lys389fs)
|
|
|
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His)
|
rs863224054
|
|
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp)
|
rs863224054
|
|
NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter)
|
|
|
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs)
|
rs1553410876
|
|
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter)
|
rs1553410866
|
|
NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)
|
|
|
NM_133259.4(LRPPRC):c.1216_1237dup (p.Cys413fs)
|
|
|
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser)
|
rs908473003
|
|
NM_133259.4(LRPPRC):c.123del (p.Ala42fs)
|
|
|
NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=)
|
rs1263285909
|
|
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)
|
rs373908553
|
|
NM_133259.4(LRPPRC):c.1261+2T>C
|
rs1553410852
|
|
NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)
|
|
|
NM_133259.4(LRPPRC):c.1299A>G (p.Glu433=)
|
rs1673918352
|
|
NM_133259.4(LRPPRC):c.1316C>T (p.Pro439Leu)
|
rs1391510968
|
|
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val)
|
rs886056058
|
|
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)
|
rs886056061
|
|
NM_133259.4(LRPPRC):c.1361del (p.Asn454fs)
|
rs2103710225
|
|
NM_133259.4(LRPPRC):c.1369+1G>C
|
|
|
NM_133259.4(LRPPRC):c.1369+2T>A
|
|
|
NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter)
|
|
|
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs)
|
rs1553408603
|
|
NM_133259.4(LRPPRC):c.1389_1393del (p.Lys463fs)
|
|
|
NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg)
|
rs957783084
|
|
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)
|
rs886056057
|
|
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter)
|
rs746627889
|
|
NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)
|
|
|
NM_133259.4(LRPPRC):c.1489-56T>G
|
rs10190161
|
|
NM_133259.4(LRPPRC):c.149+1G>T
|
|
|
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp)
|
rs571886021
|
|
NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs)
|
|
|
NM_133259.4(LRPPRC):c.14_47delinsCTCAG (p.Leu5fs)
|
|
|
NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=)
|
rs1163183496
|
|
NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs)
|
|
|
NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter)
|
|
|
NM_133259.4(LRPPRC):c.1544_1548dup (p.Ala517fs)
|
|
|
NM_133259.4(LRPPRC):c.1550C>G (p.Ala517Gly)
|
|
|
NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs)
|
|
|
NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter)
|
|
|
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter)
|
rs896524026
|
|
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)
|
rs775735922
|
|
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)
|
rs1553406772
|
|
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser)
|
rs1673163352
|
|
NM_133259.4(LRPPRC):c.1649+3A>G
|
|
|
NM_133259.4(LRPPRC):c.1670G>A (p.Trp557Ter)
|
|
|
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=)
|
rs376787135
|
|
NM_133259.4(LRPPRC):c.1677+11C>G
|
rs58811869
|
|
NM_133259.4(LRPPRC):c.1677+1G>A
|
|
|
NM_133259.4(LRPPRC):c.1677+1G>T
|
rs2103624540
|
|
NM_133259.4(LRPPRC):c.1678-2dup
|
rs1553404545
|
|
NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter)
|
rs1672822541
|
|
NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His)
|
rs762974687
|
|
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs)
|
rs750343121
|
|
NM_133259.4(LRPPRC):c.1730_1735+1del
|
|
|
NM_133259.4(LRPPRC):c.1735+2T>C
|
|
|
NM_133259.4(LRPPRC):c.1735+5C>G
|
rs373476696
|
|
NM_133259.4(LRPPRC):c.1748_1749dup (p.Phe584fs)
|
|
|
NM_133259.4(LRPPRC):c.1758T>G (p.Tyr586Ter)
|
|
|
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val)
|
rs775978547
|
|
NM_133259.4(LRPPRC):c.1775del (p.Met592fs)
|
|
|
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr)
|
rs374400665
|
|
NM_133259.4(LRPPRC):c.1842+2T>A
|
rs1553404194
|
|
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)
|
rs752914914
|
|
NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs)
|
|
|
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del)
|
rs1391434905
|
|
NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter)
|
|
|
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)
|
rs1553403993
|
|
NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)
|
|
|
NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs)
|
|
|
NM_133259.4(LRPPRC):c.1960C>T (p.Gln654Ter)
|
|
|
NM_133259.4(LRPPRC):c.1965+2T>C
|
|
|
NM_133259.4(LRPPRC):c.1966-2A>G
|
|
|
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs)
|
rs1553403879
|
|
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
|
|
|
NM_133259.4(LRPPRC):c.2024dup (p.Asn675fs)
|
|
|
NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val)
|
rs863224056
|
|
NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)
|
|
|
NM_133259.4(LRPPRC):c.2080-1G>C
|
rs1553403596
|
|
NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter)
|
|
|
NM_133259.4(LRPPRC):c.2106del (p.Ala703fs)
|
|
|
NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs)
|
|
|
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter)
|
rs1022152551
|
|
NM_133259.4(LRPPRC):c.2179G>A (p.Val727Ile)
|
rs2105082493
|
|
NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala)
|
rs1674350152
|
|
NM_133259.4(LRPPRC):c.2211-1G>A
|
|
|
NM_133259.4(LRPPRC):c.2225C>A (p.Ser742Ter)
|
|
|
NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs)
|
|
|
NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile)
|
|
|
NM_133259.4(LRPPRC):c.2285del (p.Gly762fs)
|
|
|
NM_133259.4(LRPPRC):c.2296+1G>A
|
rs1553403303
|
|
NM_133259.4(LRPPRC):c.2343del (p.Asp783fs)
|
|
|
NM_133259.4(LRPPRC):c.2369del (p.Phe790fs)
|
|
|
NM_133259.4(LRPPRC):c.2369dup (p.His791fs)
|
rs2105077651
|
|
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del)
|
rs746311499
|
|
NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs)
|
|
|
NM_133259.4(LRPPRC):c.2433del (p.Ile812fs)
|
|
|
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs)
|
rs2105077465
|
|
NM_133259.4(LRPPRC):c.2444del (p.Leu815fs)
|
|
|
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter)
|
rs1301842578
|
|
NM_133259.4(LRPPRC):c.245del (p.Gln82fs)
|
|
|
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg)
|
rs774104921
|
|
NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs)
|
|
|
NM_133259.4(LRPPRC):c.2505-1G>T
|
rs1553400727
|
|
NM_133259.4(LRPPRC):c.2505-2A>T
|
|
|
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)
|
rs1553413047
|
|
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His)
|
rs1672219378
|
|
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)
|
rs1553400685
|
|
NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)
|
|
|
NM_133259.4(LRPPRC):c.2559dup (p.Val854fs)
|
|
|
NM_133259.4(LRPPRC):c.255G>A (p.Trp85Ter)
|
rs2103745422
|
|
NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs)
|
|
|
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del)
|
rs863225444
|
|
NM_133259.4(LRPPRC):c.2603_2604del (p.Lys868fs)
|
|
|
NM_133259.4(LRPPRC):c.2630-5_2630-2del
|
|
|
NM_133259.4(LRPPRC):c.2632dup (p.Met878fs)
|
|
|
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe)
|
rs886056055
|
|
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del)
|
rs863225445
|
|
NM_133259.4(LRPPRC):c.2736+1G>T
|
rs1553400391
|
|
NM_133259.4(LRPPRC):c.2737-1G>T
|
rs1553398334
|
|
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)
|
rs1463658772
|
|
NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)
|
|
|
NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser)
|
rs775312269
|
|
NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter)
|
rs760186575
|
|
NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro)
|
|
|
NM_133259.4(LRPPRC):c.2889del (p.Lys963fs)
|
|
|
NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala)
|
rs1674344719
|
|
NM_133259.4(LRPPRC):c.2941del (p.Ile981fs)
|
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
NM_133259.4(LRPPRC):c.2966G>C (p.Arg989Pro)
|
rs774857058
|
|
NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr)
|
rs912716897
|
|
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter)
|
rs1553396232
|
|
NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs)
|
|
|
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys)
|
rs1160846305
|
|
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs)
|
rs1300725076
|
|
NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs)
|
|
|
NM_133259.4(LRPPRC):c.3031del (p.Val1011fs)
|
|
|
NM_133259.4(LRPPRC):c.3039+21C>A
|
rs7568481
|
|
NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter)
|
|
|
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter)
|
rs1202515342
|
|
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=)
|
rs768083517
|
|
NM_133259.4(LRPPRC):c.3098C>G (p.Pro1033Arg)
|
|
|
NM_133259.4(LRPPRC):c.3106C>T (p.Gln1036Ter)
|
|
|
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter)
|
rs1558936154
|
|
NM_133259.4(LRPPRC):c.3147del (p.Ala1051fs)
|
|
|
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)
|
rs769022521
|
|
NM_133259.4(LRPPRC):c.3148+1G>T
|
|
|
NM_133259.4(LRPPRC):c.3148+2C>T
|
rs1553396068
|
|
NM_133259.4(LRPPRC):c.3149-2A>T
|
|
|
NM_133259.4(LRPPRC):c.3151del
|
|
|
NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter)
|
|
|
NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)
|
|
|
NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs)
|
|
|
NM_133259.4(LRPPRC):c.320_321del (p.Lys107fs)
|
|
|
NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter)
|
|
|
NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs)
|
|
|
NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)
|
|
|
NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs)
|
|
|
NM_133259.4(LRPPRC):c.3275+1G>T
|
|
|
NM_133259.4(LRPPRC):c.3286del (p.His1096fs)
|
rs797044605
|
|
NM_133259.4(LRPPRC):c.3310del (p.Asp1104fs)
|
|
|
NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs)
|
|
|
NM_133259.4(LRPPRC):c.3364+2T>C
|
|
|
NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe)
|
rs750132738
|
|
NM_133259.4(LRPPRC):c.3446T>A (p.Leu1149Ter)
|
|
|
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val)
|
rs1670882770
|
|
NM_133259.4(LRPPRC):c.346+1G>T
|
|
|
NM_133259.4(LRPPRC):c.346+9A>C
|
rs754438818
|
|
NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs)
|
|
|
NM_133259.4(LRPPRC):c.348T>C (p.Gly116=)
|
rs1674229974
|
|
NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)
|
|
|
NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs)
|
|
|
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs)
|
rs762254417
|
|
NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp)
|
rs1670878489
|
|
NM_133259.4(LRPPRC):c.356_362del (p.Gly119fs)
|
|
|
NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter)
|
|
|
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser)
|
rs775734947
|
|
NM_133259.4(LRPPRC):c.3663dup (p.Phe1222fs)
|
|
|
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer)
|
rs1553391303
|
|
NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter)
|
|
|
NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs)
|
|
|
NM_133259.4(LRPPRC):c.3706A>T (p.Lys1236Ter)
|
|
|
NM_133259.4(LRPPRC):c.3710-1del
|
|
|
NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs)
|
|
|
NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer)
|
|
|
NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs)
|
rs761052211
|
|
NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs)
|
|
|
NM_133259.4(LRPPRC):c.3778C>T (p.Gln1260Ter)
|
|
|
NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs)
|
|
|
NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs)
|
|
|
NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs)
|
|
|
NM_133259.4(LRPPRC):c.3825+1G>A
|
|
|
NM_133259.4(LRPPRC):c.3826-1G>A
|
|
|
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del)
|
rs759297611
|
|
NM_133259.4(LRPPRC):c.3900+1G>C
|
rs863225443
|
|
NM_133259.4(LRPPRC):c.3928_3938del (p.Leu1310fs)
|
|
|
NM_133259.4(LRPPRC):c.392del (p.Gly131fs)
|
|
|
NM_133259.4(LRPPRC):c.3941T>G (p.Leu1314Ter)
|
|
|
NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs)
|
|
|
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter)
|
rs863224052
|
|
NM_133259.4(LRPPRC):c.3979_3981delinsGG (p.Ser1327fs)
|
|
|
NM_133259.4(LRPPRC):c.3979del (p.Ser1327fs)
|
|
|
NM_133259.4(LRPPRC):c.3985+1811_4077delinsA
|
|
|
NM_133259.4(LRPPRC):c.3985+1G>T
|
|
|
NM_133259.4(LRPPRC):c.3986-11_3986-8dup
|
rs764564351
|
|
NM_133259.4(LRPPRC):c.3986-2A>G
|
|
|
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile)
|
rs1553416989
|
|
NM_133259.4(LRPPRC):c.4011dup (p.Lys1338Ter)
|
rs1670422432
|
|
NM_133259.4(LRPPRC):c.4023T>G (p.Tyr1341Ter)
|
|
|
NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs)
|
|
|
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=)
|
rs746573924
|
|
NM_133259.4(LRPPRC):c.4076dup (p.Tyr1359Ter)
|
|
|
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)
|
rs148828179
|
|
NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser)
|
rs147302249
|
|
NM_133259.4(LRPPRC):c.40G>A (p.Ala14Thr)
|
|
|
NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs)
|
|
|
NM_133259.4(LRPPRC):c.4128+2T>G
|
rs1553388067
|
|
NM_133259.4(LRPPRC):c.414del (p.Lys138fs)
|
|
|
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val)
|
rs886056053
|
|
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?)
|
rs1293234237
|
|
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=)
|
rs1572599036
|
|
NM_133259.4(LRPPRC):c.441T>C (p.His147=)
|
rs886056060
|
|
NM_133259.4(LRPPRC):c.451del (p.Asp151fs)
|
|
|
NM_133259.4(LRPPRC):c.456_457del (p.Leu153fs)
|
|
|
NM_133259.4(LRPPRC):c.469+1G>A
|
rs1060499785
|
|
NM_133259.4(LRPPRC):c.495T>G (p.Tyr165Ter)
|
|
|
NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter)
|
|
|
NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter)
|
|
|
NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs)
|
|
|
NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter)
|
|
|
NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter)
|
|
|
NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter)
|
|
|
NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs)
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NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)
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NM_133259.4(LRPPRC):c.580del (p.Gln194fs)
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NM_133259.4(LRPPRC):c.582A>G (p.Gln194=)
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rs148494289
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NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)
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rs989113962
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NM_133259.4(LRPPRC):c.592_603del
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NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val)
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rs1380043598
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NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter)
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rs1553411751
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NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)
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rs1553411748
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NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup)
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rs760874906
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NM_133259.4(LRPPRC):c.650+1G>A
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NM_133259.4(LRPPRC):c.650+1del
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NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu)
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rs1674047513
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NM_133259.4(LRPPRC):c.683_684del (p.Leu228fs)
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NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala)
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rs765911841
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NM_133259.4(LRPPRC):c.703delinsAA (p.Phe235fs)
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NM_133259.4(LRPPRC):c.738-1G>A
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NM_133259.4(LRPPRC):c.738-2A>C
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NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
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rs200686732
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NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser)
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rs200686732
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NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly)
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rs143290138
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NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His)
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rs946957597
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NM_133259.4(LRPPRC):c.811del (p.Leu271fs)
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NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn)
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rs1559043209
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NM_133259.4(LRPPRC):c.864+11T>G
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rs193090896
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NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)
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rs774622259
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NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter)
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NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer)
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NM_133259.4(LRPPRC):c.92del (p.Pro31fs)
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NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs)
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NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu)
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rs1673969300
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NM_152416.3(NDUFAF6):c.[328G>T];[611C>T]
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NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)
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rs762620949
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NM_152416.4(NDUFAF6):c.8C>G (p.Ala3Gly)
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rs760443320
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NM_174889.4(NDUFAF2):c.-110A>C
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rs886060723
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NM_174889.4(NDUFAF2):c.-91C>T
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rs4647036
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NM_174889.5(NDUFAF2):c.-23GC[3]
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rs886060725
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NM_174889.5(NDUFAF2):c.128-14C>G
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rs537327206
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NM_174889.5(NDUFAF2):c.130_131del (p.Gln44fs)
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rs1752321639
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NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)
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rs1752321893
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NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)
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mitochondrial DNA deletion
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