NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr)
|
rs11558436
|
0.00480
|
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys)
|
rs139626312
|
0.00311
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_012123.4(MTO1):c.1129+246G>A
|
rs118010902
|
0.00049
|
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)
|
rs139684349
|
0.00031
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)
|
rs753858440
|
0.00009
|
NM_078470.6(COX15):c.532C>T (p.Arg178Cys)
|
rs192078749
|
0.00008
|
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)
|
rs578145610
|
0.00006
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys)
|
rs138583785
|
0.00004
|
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)
|
rs920672041
|
0.00003
|
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys)
|
rs371984550
|
0.00003
|
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del)
|
rs754586219
|
0.00002
|
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His)
|
rs753252850
|
0.00002
|
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)
|
rs1373473541
|
0.00002
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
NM_020442.6(VARS2):c.104A>G (p.His35Arg)
|
rs199534441
|
0.00002
|
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser)
|
rs554414788
|
0.00002
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)
|
rs1298056442
|
0.00001
|
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
|
rs747359752
|
0.00001
|
NM_002693.3(POLG):c.13C>T (p.Leu5Phe)
|
rs761648850
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004493.3(HSD17B10):c.253G>A (p.Val85Met)
|
rs1211736877
|
0.00001
|
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)
|
rs771783839
|
0.00001
|
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe)
|
rs759274620
|
0.00001
|
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)
|
rs757173567
|
0.00001
|
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)
|
rs770654508
|
0.00001
|
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys)
|
rs948280864
|
0.00001
|
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter)
|
rs1156283736
|
0.00001
|
NC_012920.1(MT-CO3):m.9804G>A
|
rs200613617
|
|
NC_012920.1(MT-ND4):m.11467A>G
|
rs2853493
|
|
NC_012920.1(MT-ND5):m.12372G>A
|
rs2853499
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser)
|
rs138966725
|
|
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr)
|
rs987203346
|
|
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg)
|
rs891954464
|
|
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)
|
rs137853250
|
|
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)
|
rs1576955015
|
|
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)
|
rs376624048
|
|
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val)
|
rs1555503379
|
|
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr)
|
rs1414317381
|
|
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)
|
rs1554215986
|
|
NM_001370595.2(COA8):c.41dup (p.Leu15fs)
|
rs759966247
|
|
NM_001370595.2(COA8):c.476+1G>A
|
rs900628637
|
|
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)
|
rs1553249704
|
|
NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His)
|
rs1482687384
|
|
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met)
|
rs1277027467
|
|
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
|
rs1588688823
|
|
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)
|
rs1554768224
|
|
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn)
|
rs397515462
|
|
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)
|
rs1555256440
|
|
NM_004168.4(SDHA):c.1794+105dup
|
rs1561011159
|
|
NM_006796.3(AFG3L2):c.1164+1G>A
|
rs1598832526
|
|
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile)
|
rs1235686151
|
|
NM_012123.4(MTO1):c.97del (p.Arg33fs)
|
rs1582666067
|
|
NM_014049.5(ACAD9):c.959-3C>G
|
rs1553731751
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_016138.5(COQ7):c.9C>A (p.Cys3Ter)
|
rs369616615
|
|
NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala)
|
rs1950986906
|
|
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)
|
rs1555065162
|
|
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala)
|
rs536400690
|
|
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu)
|
rs747014267
|
|
NM_018122.5(DARS2):c.20T>A (p.Leu7Ter)
|
rs1553200766
|
|
NM_020247.5(COQ8A):c.1396del (p.Glu466fs)
|
rs1553280621
|
|
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)
|
rs782439454
|
|
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val)
|
rs761726567
|
|
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg)
|
rs773482888
|
|
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe)
|
rs1562465419
|
|
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)
|
rs1590020571
|
|
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)
|
rs1574796091
|
|
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser)
|
rs1594195081
|
|
NM_024678.6(NARS2):c.10del (p.Val4fs)
|
rs1555047651
|
|
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)
|
rs751383065
|
|
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)
|
rs1553847587
|
|
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr)
|
rs1595283708
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys)
|
rs1204316787
|
|
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe)
|
rs1574775353
|
|
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser)
|
rs1574775779
|
|
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)
|
rs762620949
|
|
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu)
|
rs869025604
|
|
NM_182476.3(COQ6):c.1256A>C (p.His419Pro)
|
rs1180320611
|
|