NM_002496.4(NDUFS8):c.*40A>G
|
rs61329983
|
0.02403
|
NM_020354.5(ENTPD7):c.*4914T>C
|
rs76530337
|
0.01896
|
NM_078470.6(COX15):c.-23G>T
|
rs2231678
|
0.00765
|
NM_004376.6(COX15):c.-149G>T
|
rs139698647
|
0.00745
|
NM_020354.5(ENTPD7):c.*6030G>A
|
rs114201692
|
0.00727
|
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.*1145A>T
|
rs143750422
|
0.00638
|
NM_005006.7(NDUFS1):c.-75A>G
|
rs138818421
|
0.00612
|
NM_007103.4(NDUFV1):c.326+12G>A
|
rs184136353
|
0.00588
|
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)
|
rs144125742
|
0.00475
|
NM_004544.3(NDUFA10):c.-92C>T
|
rs559797625
|
0.00474
|
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_020354.5(ENTPD7):c.*4789T>C
|
rs148302095
|
0.00414
|
NM_078470.6(COX15):c.*3247T>C
|
rs74775778
|
0.00380
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
NM_020354.5(ENTPD7):c.*5167G>A
|
rs12241912
|
0.00342
|
NM_020354.5(ENTPD7):c.*5113T>C
|
rs76656125
|
0.00341
|
NM_020354.5(ENTPD7):c.*5889A>G
|
rs11190252
|
0.00339
|
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_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_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_003172.4(SURF1):c.*47G>A
|
rs138050767
|
0.00242
|
NM_004544.4(NDUFA10):c.*1915G>A
|
rs144590599
|
0.00237
|
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_004544.4(NDUFA10):c.*632G>A
|
rs189306598
|
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_020354.5(ENTPD7):c.*5645C>A
|
rs1000984
|
0.00191
|
NM_004544.4(NDUFA10):c.*3141C>T
|
rs144864637
|
0.00185
|
NM_015960.3(CUTC):c.61+230C>T
|
rs191339901
|
0.00184
|
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)
|
rs148544177
|
0.00172
|
NM_004544.4(NDUFA10):c.*2242T>C
|
rs111969519
|
0.00170
|
NM_004544.4(NDUFA10):c.548-9A>G
|
rs147876332
|
0.00166
|
NM_020354.5(ENTPD7):c.*4621A>C
|
rs56206689
|
0.00164
|
NM_020354.5(ENTPD7):c.*4296T>C
|
rs74152722
|
0.00163
|
NM_020354.5(ENTPD7):c.*5520C>T
|
rs548503022
|
0.00150
|
NM_078470.6(COX15):c.*1776T>A
|
rs145963002
|
0.00148
|
NM_004544.4(NDUFA10):c.*1198G>A
|
rs143353868
|
0.00145
|
NM_005006.7(NDUFS1):c.*561T>C
|
rs146538309
|
0.00141
|
NM_004544.4(NDUFA10):c.*1879G>A
|
rs143421241
|
0.00132
|
NM_015960.3(CUTC):c.61+46G>C
|
rs11595470
|
0.00128
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
NM_007103.4(NDUFV1):c.72+15G>T
|
rs187400726
|
0.00109
|
NM_001079866.2(BCS1L):c.-14G>A
|
rs367721351
|
0.00103
|
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_007103.4(NDUFV1):c.819C>T (p.Thr273=)
|
rs150859374
|
0.00093
|
NM_004544.4(NDUFA10):c.*2659A>C
|
rs559550890
|
0.00091
|
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)
|
rs151104852
|
0.00087
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)
|
rs140445386
|
0.00083
|
NM_024120.5(NDUFAF5):c.531T>C (p.Ile177=)
|
rs148689921
|
0.00083
|
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.*1850G>T
|
rs755134012
|
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_004544.4(NDUFA10):c.*3347C>T
|
rs537694779
|
0.00072
|
NM_024407.5(NDUFS7):c.*16C>T
|
rs573586959
|
0.00070
|
NM_078470.6(COX15):c.*2193A>T
|
rs557527426
|
0.00069
|
NM_078470.6(COX15):c.*1716G>A
|
rs186244558
|
0.00067
|
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_004589.4(SCO1):c.*81A>G
|
rs140538532
|
0.00063
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)
|
rs139771078
|
0.00058
|
NM_005006.7(NDUFS1):c.*438C>T
|
rs561980718
|
0.00057
|
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_002495.4(NDUFS4):c.150A>G (p.Thr50=)
|
rs142368721
|
0.00051
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_005006.7(NDUFS1):c.*938C>T
|
rs780498090
|
0.00049
|
NM_001079866.2(BCS1L):c.-50+458T>G
|
rs188224298
|
0.00048
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_078470.6(COX15):c.*2060C>T
|
rs886046606
|
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_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
NM_002496.4(NDUFS8):c.*44C>T
|
rs201815115
|
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_001303.4(COX10):c.*859G>T
|
rs974629254
|
0.00038
|
NM_002496.4(NDUFS8):c.200-14C>T
|
rs373128833
|
0.00038
|
NM_078470.6(COX15):c.*2282G>A
|
rs762075313
|
0.00038
|
NM_004376.7(COX15):c.-84G>A
|
rs574143521
|
0.00036
|
NM_004544.4(NDUFA10):c.*1992C>T
|
rs373034894
|
0.00036
|
NM_004544.4(NDUFA10):c.*2297T>G
|
rs773090030
|
0.00035
|
NM_004551.3(NDUFS3):c.381+6T>C
|
rs377579231
|
0.00035
|
NM_004551.3(NDUFS3):c.628-7C>T
|
rs11039306
|
0.00034
|
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)
|
rs137889316
|
0.00034
|
NM_004551.3(NDUFS3):c.*32G>A
|
rs189495301
|
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_020354.5(ENTPD7):c.*4339C>T
|
rs764641759
|
0.00030
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_005002.5(NDUFA9):c.253C>T (p.Arg85Trp)
|
rs71579253
|
0.00026
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
NM_004168.4(SDHA):c.895+13G>A
|
rs201461936
|
0.00025
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
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_004376.6(COX15):c.-114A>G
|
rs539821050
|
0.00023
|
NM_020354.5(ENTPD7):c.*4931G>T
|
rs576990987
|
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_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_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
NM_004551.3(NDUFS3):c.*39C>T
|
rs145121567
|
0.00020
|
NM_007103.4(NDUFV1):c.700+12C>T
|
rs200417926
|
0.00020
|
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_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_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_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_078470.6(COX15):c.131G>A (p.Ser44Asn)
|
rs141506146
|
0.00016
|
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)
|
rs149323691
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
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_001303.4(COX10):c.1064G>A (p.Arg355His)
|
rs757204220
|
0.00014
|
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)
|
rs140243793
|
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_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.255T>C (p.Ile85=)
|
rs147881961
|
0.00013
|
NM_004544.4(NDUFA10):c.*2111G>A
|
rs752139055
|
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.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)
|
rs148302981
|
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_174889.4(NDUFAF2):c.-63G>T
|
rs886060724
|
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_004589.4(SCO1):c.689C>T (p.Thr230Met)
|
rs141066877
|
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_020354.5(ENTPD7):c.*5320C>G
|
rs914156906
|
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_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
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.1378C>T (p.Arg460Trp)
|
rs372047256
|
0.00009
|
NM_017547.4(FOXRED1):c.20C>T (p.Pro7Leu)
|
rs141392346
|
0.00009
|
NM_020354.5(ENTPD7):c.*5989T>C
|
rs188328622
|
0.00009
|
NM_003172.4(SURF1):c.720C>T (p.Gly240=)
|
rs200407815
|
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.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_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_004544.4(NDUFA10):c.*1486C>T
|
rs746931112
|
0.00007
|
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)
|
rs3740654
|
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_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)
|
rs775605330
|
0.00007
|
NM_001303.4(COX10):c.*13G>A
|
rs371047487
|
0.00006
|
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.751+4C>T
|
rs782184113
|
0.00006
|
NM_004168.4(SDHA):c.*102G>A
|
rs1009017730
|
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.*27C>T
|
rs369746514
|
0.00006
|
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)
|
rs769276632
|
0.00006
|
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu)
|
rs372208500
|
0.00006
|
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr)
|
rs376958800
|
0.00006
|
NM_015960.3(CUTC):c.61+226G>A
|
rs186438310
|
0.00006
|
NM_020354.5(ENTPD7):c.*5261C>G
|
rs988381164
|
0.00006
|
NM_024120.5(NDUFAF5):c.480-3T>G
|
rs749288299
|
0.00006
|
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)
|
rs199543540
|
0.00006
|
NM_024407.5(NDUFS7):c.*8G>A
|
rs756081375
|
0.00006
|
NM_024407.5(NDUFS7):c.52C>T (p.Arg18Cys)
|
rs769894226
|
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.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_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_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_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.342T>A (p.Asn114Lys)
|
rs146580899
|
0.00004
|
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn)
|
rs782358655
|
0.00004
|
NM_003172.4(SURF1):c.591T>A (p.Ile197=)
|
rs373355971
|
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.5C>T (p.Ser2Leu)
|
rs780064103
|
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.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.1309-9C>T
|
rs374581520
|
0.00004
|
NM_015960.3(CUTC):c.-35A>C
|
rs373242921
|
0.00004
|
NM_015960.3(CUTC):c.39G>A (p.Ala13=)
|
rs751586131
|
0.00004
|
NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly)
|
rs201727988
|
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_174889.5(NDUFAF2):c.423A>G (p.Glu141=)
|
rs550008432
|
0.00004
|
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.*739A>G
|
rs886052608
|
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.*26T>G
|
rs886048592
|
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.751+5G>A
|
rs781934508
|
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_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.*3067C>T
|
rs564992184
|
0.00003
|
NM_004544.4(NDUFA10):c.*3098A>T
|
rs886055813
|
0.00003
|
NM_004544.4(NDUFA10):c.*3205G>A
|
rs886055811
|
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_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn)
|
rs770063137
|
0.00003
|
NM_020354.5(ENTPD7):c.*4550G>T
|
rs1009446425
|
0.00003
|
NM_020354.5(ENTPD7):c.*5002G>C
|
rs886046597
|
0.00003
|
NM_020354.5(ENTPD7):c.*5079T>C
|
rs1033966106
|
0.00003
|
NM_020354.5(ENTPD7):c.*5401T>C
|
rs769776249
|
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_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)
|
rs201732170
|
0.00003
|
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)
|
rs770172045
|
0.00003
|
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val)
|
rs749677218
|
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_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.643C>G (p.Pro215Ala)
|
rs147165855
|
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_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.1217C>T (p.Pro406Leu)
|
rs753686111
|
0.00002
|
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln)
|
rs368184231
|
0.00002
|
NM_020354.5(ENTPD7):c.*4519C>T
|
rs1381915856
|
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_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.1677+7C>T
|
rs374995996
|
0.00002
|
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)
|
rs750526576
|
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.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.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.73C>T (p.Leu25Phe)
|
rs776441221
|
0.00001
|
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)
|
rs764943259
|
0.00001
|
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)
|
rs748754134
|
0.00001
|
NM_002496.4(NDUFS8):c.501+12C>G
|
rs372004236
|
0.00001
|
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)
|
rs1371377502
|
0.00001
|
NM_003172.4(SURF1):c.106+15C>G
|
rs781892153
|
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.248G>A (p.Arg83His)
|
rs1370356387
|
0.00001
|
NM_003172.4(SURF1):c.251G>A (p.Arg84Gln)
|
rs782044026
|
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.629C>T (p.Thr210Ile)
|
rs1836455088
|
0.00001
|
NM_003172.4(SURF1):c.649G>A (p.Val217Ile)
|
rs1836454464
|
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.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_004168.3(SDHA):c.-63G>A
|
rs886060513
|
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.558C>T (p.Ala186=)
|
rs199618059
|
0.00001
|
NM_004168.4(SDHA):c.896-11G>T
|
rs774043076
|
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.*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.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.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.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_015960.3(CUTC):c.61+112A>G
|
rs550813748
|
0.00001
|
NM_015960.3(CUTC):c.8G>C (p.Arg3Thr)
|
rs886046614
|
0.00001
|
NM_018060.4(IARS2):c.2669T>G (p.Leu890Arg)
|
rs1409898715
|
0.00001
|
NM_020354.5(ENTPD7):c.*4579G>A
|
rs886046595
|
0.00001
|
NM_020354.5(ENTPD7):c.*5890C>T
|
rs886046599
|
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.93T>C (p.Ser31=)
|
rs1490110004
|
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.495G>T (p.Leu165=)
|
rs2036978379
|
0.00001
|
NM_078470.6(COX15):c.832+9C>T
|
rs777349150
|
0.00001
|
NM_133259.4(LRPPRC):c.1921-7A>G
|
rs779696239
|
0.00001
|
NM_152416.4(NDUFAF6):c.116C>T (p.Pro39Leu)
|
rs753206462
|
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
|
NC_000009.11:g.(?_135139626)_(140034216_?)dup
|
|
|
NC_000009.11:g.(?_136223104)_(136223329_?)dup
|
|
|
NC_012920.1(MT-ATP6):m.8576T>C
|
rs1603221596
|
|
NC_012920.1(MT-ATP6):m.8591T>C
|
rs1603221609
|
|
NC_012920.1(MT-ATP6):m.8593A>G
|
rs1603221612
|
|
NC_012920.1(MT-ATP6):m.8599C>A
|
rs1603221623
|
|
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.8623A>C
|
rs1603221645
|
|
NC_012920.1(MT-ATP6):m.8623A>T
|
rs1603221645
|
|
NC_012920.1(MT-ATP6):m.8641A>G
|
rs1603221662
|
|
NC_012920.1(MT-ATP6):m.8642A>C
|
rs1603221663
|
|
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.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.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.8761A>C
|
rs1603221776
|
|
NC_012920.1(MT-ATP6):m.8782G>A
|
rs1603221801
|
|
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.8800T>G
|
rs1569484239
|
|
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.8840C>T
|
rs1603221837
|
|
NC_012920.1(MT-ATP6):m.8844C>A
|
rs1603221840
|
|
NC_012920.1(MT-ATP6):m.8863G>A
|
rs1603221852
|
|
NC_012920.1(MT-ATP6):m.8868T>A
|
rs1556423556
|
|
NC_012920.1(MT-ATP6):m.8873G>C
|
rs1603221864
|
|
NC_012920.1(MT-ATP6):m.8879G>A
|
rs1603221870
|
|
NC_012920.1(MT-ATP6):m.8906A>C
|
rs1603221897
|
|
NC_012920.1(MT-ATP6):m.8920G>A
|
rs28406348
|
|
NC_012920.1(MT-ATP6):m.8921G>A
|
rs2298008
|
|
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.8941C>T
|
rs1603221928
|
|
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.8972T>C
|
rs1603221948
|
|
NC_012920.1(MT-ATP6):m.9005T>C
|
rs1603221971
|
|
NC_012920.1(MT-ATP6):m.9014A>G
|
rs1603221980
|
|
NC_012920.1(MT-ATP6):m.9019A>G
|
rs1603221982
|
|
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.9035T>C
|
rs1603222000
|
|
NC_012920.1(MT-ATP6):m.9047T>C
|
rs1603222008
|
|
NC_012920.1(MT-ATP6):m.9058A>C
|
rs1556423599
|
|
NC_012920.1(MT-ATP6):m.9070T>C
|
rs879190502
|
|
NC_012920.1(MT-ATP6):m.9073A>C
|
rs1556423603
|
|
NC_012920.1(MT-ATP6):m.9082C>T
|
rs1603222043
|
|
NC_012920.1(MT-ATP6):m.9085C>A
|
rs1603222048
|
|
NC_012920.1(MT-ATP6):m.9086C>T
|
rs1603222049
|
|
NC_012920.1(MT-ATP6):m.9099C>A
|
rs1603222065
|
|
NC_012920.1(MT-ATP6):m.9104T>C
|
rs1603222079
|
|
NC_012920.1(MT-ATP6):m.9106A>G
|
rs1603222082
|
|
NC_012920.1(MT-ATP6):m.9122T>G
|
rs1603222104
|
|
NC_012920.1(MT-ATP6):m.9125C>T
|
rs1603222109
|
|
NC_012920.1(MT-ATP6):m.9133G>A
|
rs1603222118
|
|
NC_012920.1(MT-ATP6):m.9140C>T
|
rs878972895
|
|
NC_012920.1(MT-ATP6):m.9160T>C
|
rs1603222140
|
|
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.9179T>C
|
rs1603222150
|
|
NC_012920.1(MT-ATP6):m.9188A>G
|
rs1603222161
|
|
NC_012920.1(MT-ATP6):m.9194A>G
|
rs1603222162
|
|
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>T
|
rs1603221438
|
|
NC_012920.1(MT-ATP8):m.8382C>T
|
rs1556423437
|
|
NC_012920.1(MT-ATP8):m.8394C>T
|
rs1603221450
|
|
NC_012920.1(MT-ATP8):m.8397C>G
|
rs1603221456
|
|
NC_012920.1(MT-ATP8):m.8403T>C
|
rs1603221460
|
|
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.8415T>C
|
rs1603221470
|
|
NC_012920.1(MT-ATP8):m.8430T>C
|
rs1603221478
|
|
NC_012920.1(MT-ATP8):m.8435A>T
|
rs1603221481
|
|
NC_012920.1(MT-ATP8):m.8466A>G
|
rs1603221500
|
|
NC_012920.1(MT-ATP8):m.8469T>C
|
rs1603221503
|
|
NC_012920.1(MT-ATP8):m.8474C>T
|
rs1603221515
|
|
NC_012920.1(MT-ATP8):m.8480C>T
|
rs1603221520
|
|
NC_012920.1(MT-ATP8):m.8481C>T
|
rs1603221521
|
|
NC_012920.1(MT-ATP8):m.8502A>T
|
rs879247004
|
|
NC_012920.1(MT-ATP8):m.8514C>T
|
rs1603221554
|
|
NC_012920.1(MT-CO1):m.5907T>C
|
rs1603220176
|
|
NC_012920.1(MT-CO1):m.5961C>A
|
rs1603220201
|
|
NC_012920.1(MT-CO1):m.6012A>G
|
rs1603220222
|
|
NC_012920.1(MT-CO1):m.6037G>A
|
rs1603220237
|
|
NC_012920.1(MT-CO1):m.6048G>A
|
rs1603220242
|
|
NC_012920.1(MT-CO1):m.6060A>C
|
rs1603220250
|
|
NC_012920.1(MT-CO1):m.6061T>C
|
rs1603220252
|
|
NC_012920.1(MT-CO1):m.6072A>G
|
rs1556423078
|
|
NC_012920.1(MT-CO1):m.6075G>A
|
rs1603220260
|
|
NC_012920.1(MT-CO1):m.6081G>T
|
rs1603220261
|
|
NC_012920.1(MT-CO1):m.6093G>A
|
rs1603220271
|
|
NC_012920.1(MT-CO1):m.6109T>C
|
rs1603220275
|
|
NC_012920.1(MT-CO1):m.6120A>G
|
rs878853023
|
|
NC_012920.1(MT-CO1):m.6121T>C
|
rs1603220280
|
|
NC_012920.1(MT-CO1):m.6132G>A
|
rs1603220289
|
|
NC_012920.1(MT-CO1):m.6174G>A
|
rs1603220303
|
|
NC_012920.1(MT-CO1):m.6258G>A
|
rs1603220372
|
|
NC_012920.1(MT-CO1):m.6273A>G
|
rs1603220381
|
|
NC_012920.1(MT-CO1):m.6286T>C
|
rs1603220392
|
|
NC_012920.1(MT-CO1):m.6289A>G
|
rs1603220395
|
|
NC_012920.1(MT-CO1):m.6307A>G
|
rs1603220406
|
|
NC_012920.1(MT-CO1):m.6324G>A
|
rs1603220417
|
|
NC_012920.1(MT-CO1):m.6358T>C
|
rs1603220439
|
|
NC_012920.1(MT-CO1):m.6393T>C
|
rs879212050
|
|
NC_012920.1(MT-CO1):m.6420C>A
|
rs1603220466
|
|
NC_012920.1(MT-CO1):m.6481T>C
|
rs28721398
|
|
NC_012920.1(MT-CO1):m.6504G>A
|
rs1603220512
|
|
NC_012920.1(MT-CO1):m.6505T>C
|
rs28371932
|
|
NC_012920.1(MT-CO1):m.6520T>C
|
rs1603220520
|
|
NC_012920.1(MT-CO1):m.6550A>G
|
rs1603220532
|
|
NC_012920.1(MT-CO1):m.6564G>A
|
rs1603220535
|
|
NC_012920.1(MT-CO1):m.6642A>G
|
rs1603220559
|
|
NC_012920.1(MT-CO1):m.6664T>C
|
rs1603220567
|
|
NC_012920.1(MT-CO1):m.6709G>A
|
rs1603220583
|
|
NC_012920.1(MT-CO1):m.6712A>T
|
rs1603220586
|
|
NC_012920.1(MT-CO1):m.6714A>G
|
rs1603220588
|
|
NC_012920.1(MT-CO1):m.6747T>C
|
rs1603220609
|
|
NC_012920.1(MT-CO1):m.6748T>C
|
rs1556423171
|
|
NC_012920.1(MT-CO1):m.6756T>C
|
rs1603220617
|
|
NC_012920.1(MT-CO1):m.6781T>C
|
rs1603220626
|
|
NC_012920.1(MT-CO1):m.6844T>C
|
rs1603220647
|
|
NC_012920.1(MT-CO1):m.6855G>A
|
rs1603220653
|
|
NC_012920.1(MT-CO1):m.6856T>C
|
rs1603220654
|
|
NC_012920.1(MT-CO1):m.6868G>A
|
rs1603220657
|
|
NC_012920.1(MT-CO1):m.6876G>A
|
rs1603220659
|
|
NC_012920.1(MT-CO1):m.6897A>G
|
rs1603220675
|
|
NC_012920.1(MT-CO1):m.6909G>A
|
rs1603220684
|
|
NC_012920.1(MT-CO1):m.6912G>A
|
rs1603220686
|
|
NC_012920.1(MT-CO1):m.6916T>C
|
rs1603220688
|
|
NC_012920.1(MT-CO1):m.6924G>A
|
rs1603220692
|
|
NC_012920.1(MT-CO1):m.6972G>C
|
rs1603220724
|
|
NC_012920.1(MT-CO1):m.6978G>A
|
rs28451817
|
|
NC_012920.1(MT-CO1):m.6987T>G
|
rs1603220727
|
|
NC_012920.1(MT-CO1):m.7015A>G
|
rs1603220734
|
|
NC_012920.1(MT-CO1):m.7020G>A
|
rs1603220735
|
|
NC_012920.1(MT-CO1):m.7032T>C
|
rs1603220739
|
|
NC_012920.1(MT-CO1):m.7053G>A
|
rs1603220753
|
|
NC_012920.1(MT-CO1):m.7077G>A
|
rs1603220764
|
|
NC_012920.1(MT-CO1):m.7084T>C
|
rs28445709
|
|
NC_012920.1(MT-CO1):m.7125A>G
|
rs1603220786
|
|
NC_012920.1(MT-CO1):m.7138T>C
|
rs1603220794
|
|
NC_012920.1(MT-CO1):m.7146_7147inv
|
|
|
NC_012920.1(MT-CO1):m.7147C>T
|
rs1603220799
|
|
NC_012920.1(MT-CO1):m.7153T>C
|
rs1603220805
|
|
NC_012920.1(MT-CO1):m.7155T>C
|
rs1603220808
|
|
NC_012920.1(MT-CO1):m.7168A>G
|
rs1603220812
|
|
NC_012920.1(MT-CO1):m.7187A>T
|
rs1603220823
|
|
NC_012920.1(MT-CO1):m.7233C>T
|
rs1603220839
|
|
NC_012920.1(MT-CO1):m.7249C>T
|
rs1603220851
|
|
NC_012920.1(MT-CO1):m.7272G>A
|
rs28415137
|
|
NC_012920.1(MT-CO1):m.7279T>C
|
rs1603220861
|
|
NC_012920.1(MT-CO1):m.7284T>G
|
rs1603220868
|
|
NC_012920.1(MT-CO1):m.7290A>G
|
rs1603220870
|
|
NC_012920.1(MT-CO1):m.7300T>C
|
rs1603220877
|
|
NC_012920.1(MT-CO1):m.7332G>A
|
rs1603220889
|
|
NC_012920.1(MT-CO1):m.7347G>A
|
rs1603220894
|
|
NC_012920.1(MT-CO1):m.7357T>C
|
rs1603220914
|
|
NC_012920.1(MT-CO1):m.7362G>A
|
rs1603220917
|
|
NC_012920.1(MT-CO1):m.7365C>A
|
rs1603220919
|
|
NC_012920.1(MT-CO1):m.7374A>G
|
rs1603220927
|
|
NC_012920.1(MT-CO1):m.7408A>G
|
rs1603220949
|
|
NC_012920.1(MT-CO1):m.7431T>C
|
rs1603220957
|
|
NC_012920.1(MT-CO1):m.7440T>C
|
rs1603220962
|
|
NC_012920.1(MT-CO1):m.7440T>G
|
rs1603220962
|
|
NC_012920.1(MT-CO2):m.7608G>A
|
rs1603221035
|
|
NC_012920.1(MT-CO2):m.7628C>A
|
rs1603221045
|
|
NC_012920.1(MT-CO2):m.7632T>C
|
rs1603221049
|
|
NC_012920.1(MT-CO2):m.7650C>T
|
rs1603221063
|
|
NC_012920.1(MT-CO2):m.7664G>T
|
rs879139393
|
|
NC_012920.1(MT-CO2):m.7686T>C
|
rs1603221081
|
|
NC_012920.1(MT-CO2):m.7698T>C
|
rs1603221090
|
|
NC_012920.1(MT-CO2):m.7706G>A
|
rs1556423333
|
|
NC_012920.1(MT-CO2):m.7713T>C
|
rs1603221099
|
|
NC_012920.1(MT-CO2):m.7718A>G
|
rs1556423337
|
|
NC_012920.1(MT-CO2):m.7751T>G
|
rs1603221115
|
|
NC_012920.1(MT-CO2):m.7806T>C
|
rs1603221147
|
|
NC_012920.1(MT-CO2):m.7811A>G
|
rs1603221152
|
|
NC_012920.1(MT-CO2):m.7814G>A
|
rs1603221156
|
|
NC_012920.1(MT-CO2):m.7833T>C
|
rs1603221169
|
|
NC_012920.1(MT-CO2):m.7844A>T
|
rs1556423353
|
|
NC_012920.1(MT-CO2):m.7868C>T
|
rs1556423357
|
|
NC_012920.1(MT-CO2):m.7874A>G
|
rs1603221191
|
|
NC_012920.1(MT-CO2):m.7898T>C
|
rs1603221199
|
|
NC_012920.1(MT-CO2):m.7904A>G
|
rs1603221201
|
|
NC_012920.1(MT-CO2):m.7919G>A
|
rs1603221212
|
|
NC_012920.1(MT-CO2):m.7922T>C
|
rs1556423362
|
|
NC_012920.1(MT-CO2):m.7925G>A
|
rs1603221215
|
|
NC_012920.1(MT-CO2):m.7926G>A
|
rs1603221217
|
|
NC_012920.1(MT-CO2):m.7929G>A
|
|
|
NC_012920.1(MT-CO2):m.7943T>C
|
rs1603221224
|
|
NC_012920.1(MT-CO2):m.7962T>C
|
rs1603221233
|
|
NC_012920.1(MT-CO2):m.7976G>A
|
rs377368526
|
|
NC_012920.1(MT-CO2):m.7980A>G
|
rs1603221241
|
|
NC_012920.1(MT-CO2):m.8001A>G
|
rs1603221247
|
|
NC_012920.1(MT-CO2):m.8010T>C
|
rs1603221254
|
|
NC_012920.1(MT-CO2):m.8012G>A
|
rs1603221258
|
|
NC_012920.1(MT-CO2):m.8030C>T
|
rs1603221266
|
|
NC_012920.1(MT-CO2):m.8033A>G
|
rs1603221267
|
|
NC_012920.1(MT-CO2):m.8060G>A
|
rs1603221271
|
|
NC_012920.1(MT-CO2):m.8069T>C
|
rs1603221275
|
|
NC_012920.1(MT-CO2):m.8079T>C
|
rs1603221279
|
|
NC_012920.1(MT-CO2):m.8135T>C
|
rs1603221304
|
|
NC_012920.1(MT-CO2):m.8141G>A
|
rs1603221309
|
|
NC_012920.1(MT-CO2):m.8187G>A
|
rs1603221319
|
|
NC_012920.1(MT-CO2):m.8210A>G
|
rs1603221330
|
|
NC_012920.1(MT-CO2):m.8225A>G
|
rs1603221335
|
|
NC_012920.1(MT-CO2):m.8238T>C
|
rs1603221344
|
|
NC_012920.1(MT-CO2):m.8252C>T
|
rs1603221351
|
|
NC_012920.1(MT-CO2):m.8265T>C
|
rs1603221364
|
|
NC_012920.1(MT-CO3):m.9217A>G
|
rs1603222182
|
|
NC_012920.1(MT-CO3):m.9219T>G
|
rs1603222184
|
|
NC_012920.1(MT-CO3):m.9247G>A
|
rs1553140066
|
|
NC_012920.1(MT-CO3):m.9261A>G
|
rs1603222202
|
|
NC_012920.1(MT-CO3):m.9265G>A
|
rs1556423649
|
|
NC_012920.1(MT-CO3):m.9267G>A
|
rs1556423650
|
|
NC_012920.1(MT-CO3):m.9294G>A
|
rs1603222222
|
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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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-ND5):m.13288G>A
|
rs1603224132
|
|
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
|
|
NC_012920.1(MT-ND5):m.13415G>A
|
rs1603224181
|
|
NC_012920.1(MT-ND5):m.13436C>A
|
rs1603224188
|
|
NC_012920.1(MT-ND5):m.13438C>A
|
rs1603224189
|
|
NC_012920.1(MT-ND5):m.13463G>A
|
rs1603224197
|
|
NC_012920.1(MT-ND5):m.13468C>A
|
rs28654395
|
|
NC_012920.1(MT-ND5):m.13471G>A
|
rs1603224200
|
|
NC_012920.1(MT-ND5):m.13478C>T
|
rs1603224203
|
|
NC_012920.1(MT-ND5):m.13484T>C
|
rs1603224204
|
|
NC_012920.1(MT-ND5):m.13495A>G
|
rs1603224207
|
|
NC_012920.1(MT-ND5):m.13507T>C
|
rs1603224215
|
|
NC_012920.1(MT-ND5):m.13522A>C
|
rs1603224217
|
|
NC_012920.1(MT-ND5):m.13522A>G
|
rs1603224217
|
|
NC_012920.1(MT-ND5):m.13524C>A
|
rs1603224219
|
|
NC_012920.1(MT-ND5):m.13552G>A
|
rs1603224232
|
|
NC_012920.1(MT-ND5):m.13568T>C
|
rs1603224237
|
|
NC_012920.1(MT-ND5):m.13583C>T
|
rs1603224248
|
|
NC_012920.1(MT-ND5):m.13612A>T
|
rs1603224262
|
|
NC_012920.1(MT-ND5):m.13616T>C
|
rs1603224267
|
|
NC_012920.1(MT-ND5):m.13645T>A
|
rs1603224281
|
|
NC_012920.1(MT-ND5):m.13651A>C
|
rs1569484594
|
|
NC_012920.1(MT-ND5):m.13651A>T
|
rs1569484594
|
|
NC_012920.1(MT-ND5):m.13664T>C
|
rs1603224295
|
|
NC_012920.1(MT-ND5):m.13712C>T
|
rs1603224311
|
|
NC_012920.1(MT-ND5):m.13726G>A
|
rs1603224322
|
|
NC_012920.1(MT-ND5):m.13760C>T
|
rs1603224340
|
|
NC_012920.1(MT-ND5):m.13835C>T
|
rs1603224377
|
|
NC_012920.1(MT-ND5):m.13885C>A
|
rs1603224399
|
|
NC_012920.1(MT-ND5):m.13913T>C
|
rs1603224410
|
|
NC_012920.1(MT-ND5):m.13919T>C
|
rs1603224418
|
|
NC_012920.1(MT-ND5):m.13946T>C
|
rs1603224429
|
|
NC_012920.1(MT-ND5):m.13974A>T
|
rs1603224443
|
|
NC_012920.1(MT-ND5):m.14020T>G
|
rs1556424369
|
|
NC_012920.1(MT-ND5):m.14042A>T
|
rs1603224485
|
|
NC_012920.1(MT-ND5):m.14050T>C
|
rs879112261
|
|
NC_012920.1(MT-ND5):m.14051C>T
|
rs1603224492
|
|
NC_012920.1(MT-ND5):m.14053A>C
|
rs200134839
|
|
NC_012920.1(MT-ND5):m.14091A>T
|
rs1603224520
|
|
NC_012920.1(MT-ND5):m.14112C>A
|
rs1603224530
|
|
NC_012920.1(MT-ND5):m.14113T>C
|
rs1603224531
|
|
NC_012920.1(MT-ND5):m.14138T>C
|
rs1603224549
|
|
NC_012920.1(MT-ND5):m.14140A>G
|
rs1603224551
|
|
NC_012920.1(MT-ND5):m.14143A>G
|
rs1603224556
|
|
NC_012920.1(MT-ND5):m.14144C>T
|
rs1603224557
|
|
NC_012920.1(MT-ND6):m.14154T>G
|
rs1603224566
|
|
NC_012920.1(MT-ND6):m.14180T>G
|
rs200933339
|
|
NC_012920.1(MT-ND6):m.14199T>C
|
rs2857288
|
|
NC_012920.1(MT-ND6):m.14210A>G
|
rs1603224604
|
|
NC_012920.1(MT-ND6):m.14225C>T
|
rs1603224611
|
|
NC_012920.1(MT-ND6):m.14231T>C
|
rs1603224615
|
|
NC_012920.1(MT-ND6):m.14234T>C
|
rs1603224619
|
|
NC_012920.1(MT-ND6):m.14276C>T
|
rs1603224645
|
|
NC_012920.1(MT-ND6):m.14297A>G
|
rs1603224655
|
|
NC_012920.1(MT-ND6):m.14301T>C
|
rs1603224659
|
|
NC_012920.1(MT-ND6):m.14307T>C
|
rs1603224663
|
|
NC_012920.1(MT-ND6):m.14328C>T
|
rs1603224675
|
|
NC_012920.1(MT-ND6):m.14339A>G
|
rs1603224682
|
|
NC_012920.1(MT-ND6):m.14375A>C
|
rs1603224702
|
|
NC_012920.1(MT-ND6):m.14382T>G
|
rs1603224704
|
|
NC_012920.1(MT-ND6):m.14423G>A
|
rs1603224726
|
|
NC_012920.1(MT-ND6):m.14444T>C
|
rs1603224732
|
|
NC_012920.1(MT-ND6):m.14466T>C
|
rs1603224741
|
|
NC_012920.1(MT-ND6):m.14468T>C
|
rs1603224744
|
|
NC_012920.1(MT-ND6):m.14484T>G
|
rs199476104
|
|
NC_012920.1(MT-ND6):m.14523T>C
|
rs1603224780
|
|
NC_012920.1(MT-ND6):m.14544G>T
|
rs371485573
|
|
NC_012920.1(MT-ND6):m.14573A>G
|
rs1603224794
|
|
NC_012920.1(MT-ND6):m.14576A>G
|
rs1603224796
|
|
NC_012920.1(MT-ND6):m.14601G>A
|
rs1603224806
|
|
NC_012920.1(MT-ND6):m.14615G>A
|
rs1603224810
|
|
NC_012920.1(MT-ND6):m.14619A>G
|
rs1556424471
|
|
NC_012920.1(MT-ND6):m.14627A>G
|
rs1603224811
|
|
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:m.11360A>G
|
rs878928689
|
|
NC_012920.1:m.12013A>G
|
rs1057516067
|
|
NC_012920.1:m.12018C>G
|
rs1057516068
|
|
NC_012920.1:m.14597A>G
|
rs797045055
|
|
NC_012920.1:m.15060G>A
|
rs1057516072
|
|
NC_012920.1:m.15246G>A
|
rs1057516075
|
|
NC_012920.1:m.15453T>C
|
rs527236184
|
|
NC_012920.1:m.3928G>C
|
rs587776442
|
|
NC_012920.1:m.5505A>G
|
rs1569484003
|
|
NC_012920.1:m.7041G>A
|
rs1556423220
|
|
NC_012920.1:m.8540T>C
|
rs878852987
|
|
NC_012920.1:m.8550A>G
|
rs1603221581
|
|
NC_012920.1:m.8568C>A
|
rs1603221589
|
|
NC_012920.1:m.8651T>C
|
rs1556423512
|
|
NC_012920.1:m.8686T>C
|
rs1569484231
|
|
NC_012920.1:m.9166T>C
|
rs1057516063
|
|
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.*498T>G
|
rs886061911
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
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.566A>G (p.Asn189Ser)
|
rs1939494232
|
|
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.*150_*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.*720G>A
|
rs1174121283
|
|
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.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_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.178-4G>C
|
rs200384843
|
|
NM_002495.4(NDUFS4):c.351-11_351-8del
|
rs375549253
|
|
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.269C>T (p.Pro90Leu)
|
rs746246241
|
|
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met)
|
rs1277027467
|
|
NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu)
|
rs201017561
|
|
NM_003172.4(SURF1):c.*93C>T
|
rs1836416878
|
|
NM_003172.4(SURF1):c.106+6G>A
|
|
|
NM_003172.4(SURF1):c.106+7G>T
|
rs1836579608
|
|
NM_003172.4(SURF1):c.107-7T>G
|
|
|
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.16G>T (p.Ala6Ser)
|
rs2119089250
|
|
NM_003172.4(SURF1):c.179C>G (p.Ser60Cys)
|
|
|
NM_003172.4(SURF1):c.190T>C (p.Trp64Arg)
|
|
|
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.202C>T (p.Leu68Phe)
|
|
|
NM_003172.4(SURF1):c.208C>T (p.Pro70Ser)
|
|
|
NM_003172.4(SURF1):c.212T>C (p.Val71Ala)
|
|
|
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
|
rs782036327
|
|
NM_003172.4(SURF1):c.226T>G (p.Leu76Val)
|
|
|
NM_003172.4(SURF1):c.233C>T (p.Thr78Ile)
|
|
|
NM_003172.4(SURF1):c.241-16T>A
|
rs146939127
|
|
NM_003172.4(SURF1):c.245A>T (p.Gln82Leu)
|
|
|
NM_003172.4(SURF1):c.247C>T (p.Arg83Cys)
|
|
|
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro)
|
rs782044026
|
|
NM_003172.4(SURF1):c.260A>G (p.Lys87Arg)
|
|
|
NM_003172.4(SURF1):c.28G>A (p.Gly10Arg)
|
|
|
NM_003172.4(SURF1):c.295C>G (p.Leu99Val)
|
|
|
NM_003172.4(SURF1):c.304C>G (p.Pro102Ala)
|
|
|
NM_003172.4(SURF1):c.324-10_324-9insAGA
|
rs1299986010
|
|
NM_003172.4(SURF1):c.324-3C>G
|
rs2119083618
|
|
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.338A>G (p.Lys113Arg)
|
rs2119083584
|
|
NM_003172.4(SURF1):c.347A>G (p.Glu116Gly)
|
rs1018457058
|
|
NM_003172.4(SURF1):c.352A>G (p.Arg118Gly)
|
|
|
NM_003172.4(SURF1):c.35G>T (p.Arg12Leu)
|
|
|
NM_003172.4(SURF1):c.363G>C (p.Lys121Asn)
|
|
|
NM_003172.4(SURF1):c.369G>C (p.Arg123Ser)
|
|
|
NM_003172.4(SURF1):c.380A>C (p.Asp127Ala)
|
rs782197597
|
|
NM_003172.4(SURF1):c.398A>G (p.Tyr133Cys)
|
|
|
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.416T>C (p.Met139Thr)
|
|
|
NM_003172.4(SURF1):c.430C>T (p.Arg144Trp)
|
|
|
NM_003172.4(SURF1):c.431G>A (p.Arg144Gln)
|
|
|
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.442G>A (p.Glu148Lys)
|
|
|
NM_003172.4(SURF1):c.456CTC[2] (p.Ser155del)
|
rs782208909
|
|
NM_003172.4(SURF1):c.464C>T (p.Ser155Leu)
|
|
|
NM_003172.4(SURF1):c.482A>G (p.Tyr161Cys)
|
|
|
NM_003172.4(SURF1):c.487G>A (p.Val163Ile)
|
|
|
NM_003172.4(SURF1):c.491C>G (p.Thr164Ser)
|
|
|
NM_003172.4(SURF1):c.500A>G (p.His167Arg)
|
rs373251271
|
|
NM_003172.4(SURF1):c.510C>A (p.Asp170Glu)
|
|
|
NM_003172.4(SURF1):c.510C>G (p.Asp170Glu)
|
rs587683200
|
|
NM_003172.4(SURF1):c.512T>C (p.Leu171Pro)
|
rs1836495532
|
|
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr)
|
rs587753385
|
|
NM_003172.4(SURF1):c.538G>C (p.Gly180Arg)
|
rs1444801979
|
|
NM_003172.4(SURF1):c.54+5_54+6delinsTT
|
|
|
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.55-5C>G
|
|
|
NM_003172.4(SURF1):c.55G>C (p.Ala19Pro)
|
rs1836582383
|
|
NM_003172.4(SURF1):c.588G>A (p.Gln196=)
|
|
|
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.607C>T (p.Leu203Phe)
|
|
|
NM_003172.4(SURF1):c.611T>G (p.Ile204Ser)
|
rs1209784974
|
|
NM_003172.4(SURF1):c.638G>C (p.Arg213Thr)
|
|
|
NM_003172.4(SURF1):c.641_643del (p.Gln214del)
|
rs2119081112
|
|
NM_003172.4(SURF1):c.643C>T (p.Pro215Ser)
|
|
|
NM_003172.4(SURF1):c.655G>C (p.Glu219Gln)
|
|
|
NM_003172.4(SURF1):c.657G>C (p.Glu219Asp)
|
|
|
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.679T>A (p.Trp227Arg)
|
rs398122806
|
|
NM_003172.4(SURF1):c.692A>G (p.Asp231Gly)
|
|
|
NM_003172.4(SURF1):c.693C>G (p.Asp231Glu)
|
|
|
NM_003172.4(SURF1):c.700G>C (p.Ala234Pro)
|
|
|
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.713T>C (p.Ile238Thr)
|
rs1318116962
|
|
NM_003172.4(SURF1):c.727C>A (p.Pro243Thr)
|
|
|
NM_003172.4(SURF1):c.747C>A (p.Asn249Lys)
|
rs1208965322
|
|
NM_003172.4(SURF1):c.750C>G (p.Phe250Leu)
|
rs782109120
|
|
NM_003172.4(SURF1):c.758C>G (p.Thr253Arg)
|
|
|
NM_003172.4(SURF1):c.75GAG[3] (p.Arg26_Ser27insArg)
|
|
|
NM_003172.4(SURF1):c.763C>T (p.Pro255Ser)
|
|
|
NM_003172.4(SURF1):c.764C>A (p.Pro255His)
|
|
|
NM_003172.4(SURF1):c.773C>G (p.Pro258Arg)
|
|
|
NM_003172.4(SURF1):c.775A>G (p.Ile259Val)
|
|
|
NM_003172.4(SURF1):c.776T>C (p.Ile259Thr)
|
|
|
NM_003172.4(SURF1):c.788C>G (p.Thr263Ser)
|
rs2119080085
|
|
NM_003172.4(SURF1):c.796A>T (p.Thr266Ser)
|
|
|
NM_003172.4(SURF1):c.800T>C (p.Leu267Pro)
|
|
|
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)
|
rs1554768224
|
|
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup)
|
rs782161777
|
|
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)
|
rs782488388
|
|
NM_003172.4(SURF1):c.815T>C (p.Leu272Pro)
|
|
|
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.833+3G>A
|
rs587699821
|
|
NM_003172.4(SURF1):c.836A>T (p.Tyr279Phe)
|
rs587758543
|
|
NM_003172.4(SURF1):c.83T>C (p.Val28Ala)
|
|
|
NM_003172.4(SURF1):c.845C>G (p.Ser282Cys)
|
|
|
NM_003172.4(SURF1):c.847G>A (p.Ala283Thr)
|
rs139025632
|
|
NM_003172.4(SURF1):c.850G>C (p.Ala284Pro)
|
|
|
NM_003172.4(SURF1):c.856T>G (p.Ser286Ala)
|
rs2119079774
|
|
NM_003172.4(SURF1):c.863T>A (p.Leu288Gln)
|
rs200841752
|
|
NM_003172.4(SURF1):c.879C>G (p.Phe293Leu)
|
|
|
NM_003172.4(SURF1):c.884G>A (p.Arg295His)
|
|
|
NM_003172.4(SURF1):c.884G>T (p.Arg295Leu)
|
rs369247238
|
|
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.97C>G (p.Pro33Ala)
|
rs1295640591
|
|
NM_003172.4(SURF1):c.98C>G (p.Pro33Arg)
|
|
|
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.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.830C>T (p.Thr277Met)
|
rs367721665
|
|
NM_004544.4(NDUFA10):c.*1047T>C
|
rs1694787943
|
|
NM_004544.4(NDUFA10):c.*1124C>T
|
rs754187471
|
|
NM_004544.4(NDUFA10):c.*1129G>A
|
rs886055822
|
|
NM_004544.4(NDUFA10):c.*1212T>C
|
rs886055821
|
|
NM_004544.4(NDUFA10):c.*1391C>T
|
rs552149779
|
|
NM_004544.4(NDUFA10):c.*1586A>G
|
rs1483288404
|
|
NM_004544.4(NDUFA10):c.*1702G>A
|
rs1694755462
|
|
NM_004544.4(NDUFA10):c.*1884G>C
|
rs886055820
|
|
NM_004544.4(NDUFA10):c.*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.*548G>C
|
rs1694810369
|
|
NM_004544.4(NDUFA10):c.*732T>G
|
rs1349086163
|
|
NM_004544.4(NDUFA10):c.*740C>T
|
rs886055823
|
|
NM_004544.4(NDUFA10):c.*861C>G
|
rs551167199
|
|
NM_004544.4(NDUFA10):c.-34C>T
|
rs920826583
|
|
NM_004544.4(NDUFA10):c.-36C>T
|
rs886055826
|
|
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)
|
rs201449418
|
|
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu)
|
rs558134843
|
|
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=)
|
rs770747594
|
|
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val)
|
rs1258770997
|
|
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro)
|
rs1559403435
|
|
NM_004544.4(NDUFA10):c.558C>T (p.His186=)
|
rs1407750102
|
|
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)
|
rs148656779
|
|
NM_004544.4(NDUFA10):c.749+5G>A
|
rs1697147446
|
|
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly)
|
rs758042753
|
|
NM_004551.3(NDUFS3):c.-15C>G
|
rs950097510
|
|
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln)
|
rs1555198759
|
|
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His)
|
rs886048391
|
|
NM_004551.3(NDUFS3):c.381+5G>T
|
rs886048392
|
|
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg)
|
rs752314902
|
|
NM_004589.3(SCO1):c.-53delA
|
rs566330071
|
|
NM_004589.4(SCO1):c.*285C>T
|
rs886052593
|
|
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.*459A>G
|
rs1691173843
|
|
NM_005006.7(NDUFS1):c.*504G>A
|
rs548641207
|
|
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.-73C>A
|
rs367649369
|
|
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)
|
rs78042826
|
|
NM_005006.7(NDUFS1):c.1393-7del
|
rs760292289
|
|
NM_005006.7(NDUFS1):c.154-10_154-9del
|
rs568965659
|
|
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.689C>A (p.Ala230Asp)
|
rs1575984450
|
|
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)
|
rs774232299
|
|
NM_007103.3(NDUFV1):c.-111T>C
|
rs563140258
|
|
NM_007103.3(NDUFV1):c.-159G>T
|
rs1387676031
|
|
NM_007103.4(NDUFV1):c.*14C>T
|
rs886048590
|
|
NM_007103.4(NDUFV1):c.-34T>A
|
rs886048586
|
|
NM_007103.4(NDUFV1):c.-61A>G
|
rs947406124
|
|
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)
|
rs1854932368
|
|
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)
|
rs147719815
|
|
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu)
|
rs886048587
|
|
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn)
|
rs886048588
|
|
NM_007103.4(NDUFV1):c.432G>T (p.Val144=)
|
rs144087607
|
|
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu)
|
rs573896386
|
|
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val)
|
rs1432435322
|
|
NM_013247.5(HTRA2):c.1037A>T (p.Glu346Val)
|
|
|
NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu)
|
|
|
NM_015378.4(VPS13D):c.8687C>T (p.Thr2896Met)
|
|
|
NM_015960.3(CUTC):c.-50C>G
|
rs985074355
|
|
NM_015960.3(CUTC):c.-68G>A
|
rs886046613
|
|
NM_015960.3(CUTC):c.61+242G>T
|
rs886046616
|
|
NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter)
|
rs149481081
|
|
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)
|
rs1555065162
|
|
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs)
|
rs1592708249
|
|
NM_020354.5(ENTPD7):c.*4290C>G
|
rs886046594
|
|
NM_020354.5(ENTPD7):c.*4976C>T
|
rs886046596
|
|
NM_020354.5(ENTPD7):c.*5521G>A
|
rs886046598
|
|
NM_024120.5(NDUFAF5):c.181C>T (p.Arg61Trp)
|
rs200744738
|
|
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.30A>T (p.Leu10Phe)
|
rs766441991
|
|
NM_024120.5(NDUFAF5):c.736G>T (p.Val246Phe)
|
rs1985448121
|
|
NM_024407.5(NDUFS7):c.*3CCG[4]
|
rs3065757
|
|
NM_024407.5(NDUFS7):c.*3CCG[5]
|
rs3065757
|
|
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.717G>T (p.Trp239Cys)
|
rs886046611
|
|
NM_078470.6(COX15):c.988-3C>T
|
rs745556177
|
|
NM_078470.6(COX15):c.988-8C>A
|
rs542092025
|
|
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.*2048dup
|
rs546907287
|
|
NM_133259.4(LRPPRC):c.1156-13dup
|
rs747766605
|
|
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser)
|
rs908473003
|
|
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
|
rs200686732
|
|
NM_152416.4(NDUFAF6):c.8C>G (p.Ala3Gly)
|
rs760443320
|
|
NM_174889.4(NDUFAF2):c.-110A>C
|
rs886060723
|
|
NM_174889.5(NDUFAF2):c.-23GC[3]
|
rs886060725
|
|
NM_174889.5(NDUFAF2):c.128-14C>G
|
rs537327206
|
|
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)
|
rs1752321893
|
|
m.14279G>A
|
rs869025187
|
|
m.14498T>C
|
rs869025186
|
|
m.14849T>C
|
rs207460004
|
|
m.14985G>A
|
rs207459995
|
|
m.15498G>A
|
rs207460003
|
|
m.6264G>A
|
rs267606882
|
|