NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
NM_001687.5(ATP5F1D):c.25C>T (p.Arg9Cys)
|
rs531544101
|
0.00316
|
NM_133259.4(LRPPRC):c.3275+7G>A
|
rs111392631
|
0.00152
|
NM_000036.3(AMPD1):c.381+1G>C
|
rs143303736
|
0.00125
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
|
rs11547480
|
0.00101
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)
|
rs142582318
|
0.00093
|
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly)
|
rs141647723
|
0.00074
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)
|
rs150645738
|
0.00070
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)
|
rs139771078
|
0.00058
|
NM_024537.4(CARS2):c.244G>A (p.Val82Ile)
|
rs117788141
|
0.00055
|
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile)
|
rs115092288
|
0.00053
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)
|
rs142912356
|
0.00049
|
NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr)
|
rs146638016
|
0.00047
|
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu)
|
rs138705920
|
0.00042
|
NM_004551.3(NDUFS3):c.381+6T>C
|
rs377579231
|
0.00035
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)
|
rs145602077
|
0.00031
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg)
|
rs150190849
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_017827.4(SARS2):c.17C>T (p.Ala6Val)
|
rs201988841
|
0.00029
|
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe)
|
rs200717164
|
0.00025
|
NM_133259.4(LRPPRC):c.2210+10C>T
|
rs200747013
|
0.00019
|
NM_001278716.2(FBXL4):c.1103+13C>T
|
rs182076681
|
0.00016
|
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser)
|
rs201858974
|
0.00016
|
NM_001303.4(COX10):c.*1459del
|
rs574015313
|
0.00016
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00016
|
NM_012208.4(HARS2):c.1254G>C (p.Gln418His)
|
rs138090816
|
0.00015
|
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln)
|
rs764094155
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser)
|
rs373262677
|
0.00013
|
NM_001358921.2(COQ2):c.-23C>G
|
rs368891722
|
0.00013
|
NM_021074.5(NDUFV2):c.428G>A (p.Arg143Gln)
|
rs148158107
|
0.00013
|
NM_213649.2(SFXN4):c.677C>T (p.Ala226Val)
|
rs151157939
|
0.00012
|
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp)
|
rs143596876
|
0.00011
|
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)
|
rs148261223
|
0.00011
|
NM_017866.6(TMEM70):c.128G>A (p.Ser43Asn)
|
rs199815125
|
0.00011
|
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln)
|
rs782357172
|
0.00010
|
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser)
|
rs373908553
|
0.00010
|
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp)
|
rs369963978
|
0.00009
|
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser)
|
rs150304121
|
0.00009
|
NM_003477.3(PDHX):c.542G>A (p.Arg181Gln)
|
rs148117169
|
0.00009
|
NM_017827.4(SARS2):c.988C>T (p.Arg330Trp)
|
rs781367675
|
0.00009
|
NC_000001.11:g.114695547A>G
|
rs377496676
|
0.00008
|
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu)
|
rs376193713
|
0.00008
|
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)
|
rs1127511
|
0.00008
|
NM_017827.4(SARS2):c.637G>A (p.Asp213Asn)
|
rs151116675
|
0.00008
|
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)
|
rs376789465
|
0.00007
|
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln)
|
rs764507324
|
0.00007
|
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn)
|
rs766087007
|
0.00006
|
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln)
|
rs200592030
|
0.00006
|
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser)
|
rs143303551
|
0.00005
|
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)
|
rs778692687
|
0.00005
|
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)
|
rs201727685
|
0.00005
|
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val)
|
rs1263217341
|
0.00004
|
NM_000036.3(AMPD1):c.1974+1G>A
|
rs145328844
|
0.00004
|
NM_000036.3(AMPD1):c.53G>A (p.Arg18His)
|
rs140601541
|
0.00004
|
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp)
|
rs768332999
|
0.00004
|
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys)
|
rs139003085
|
0.00004
|
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)
|
rs778409451
|
0.00004
|
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile)
|
rs201452351
|
0.00004
|
NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala)
|
rs757761857
|
0.00004
|
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile)
|
rs572478240
|
0.00004
|
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met)
|
rs371666279
|
0.00004
|
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)
|
rs776342428
|
0.00004
|
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln)
|
rs886045093
|
0.00003
|
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp)
|
rs863224110
|
0.00003
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00003
|
NM_021100.5(NFS1):c.948+1G>T
|
rs774266655
|
0.00003
|
NM_032380.5(GFM2):c.431-3T>C
|
rs369071633
|
0.00003
|
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys)
|
rs777802711
|
0.00002
|
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr)
|
rs765248906
|
0.00002
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn)
|
rs772228438
|
0.00002
|
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg)
|
rs374679403
|
0.00002
|
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)
|
rs749767366
|
0.00002
|
NM_199069.2(NDUFAF3):c.74C>T (p.Pro25Leu)
|
rs368575094
|
0.00002
|
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter)
|
rs377185948
|
0.00001
|
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn)
|
rs866261066
|
0.00001
|
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu)
|
rs886044350
|
0.00001
|
NM_000036.3(AMPD1):c.950G>A (p.Arg317His)
|
rs142123340
|
0.00001
|
NM_000925.4(PDHB):c.826A>T (p.Met276Leu)
|
rs372743787
|
0.00001
|
NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr)
|
rs376909719
|
0.00001
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln)
|
rs372417584
|
0.00001
|
NM_005004.4(NDUFB8):c.29G>T (p.Gly10Val)
|
rs747478517
|
0.00001
|
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr)
|
rs757486575
|
0.00001
|
NM_014317.5(PDSS1):c.270A>T (p.Glu90Asp)
|
rs147126048
|
0.00001
|
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp)
|
rs1157458251
|
0.00001
|
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser)
|
rs746241006
|
0.00001
|
NM_032620.4(GTPBP3):c.664+18T>G
|
rs369523370
|
0.00001
|
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
|
|
|
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
|
|
|
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
|
|
|
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
|
|
|
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
|
|
|
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
|
|
|
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
|
|
|
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
|
|
|
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
|
|
|
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
|
|
|
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln)
|
rs200543002
|
|
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
|
|
|
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
|
|
|
NM_000036.3(AMPD1):c.35-2A>G
|
|
|
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
|
|
|
NM_000036.3(AMPD1):c.5del (p.Pro2fs)
|
rs557878856
|
|
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
|
|
|
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
|
|
|
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
|
|
|
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
|
|
|
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
|
|
|
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
|
|
|
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
|
|
|
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
|
|
|
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
|
|
|
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
|
|
|
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
|
|
|
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
|
|
|
NM_000284.4(PDHA1):c.*10_*12del
|
rs752082232
|
|
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
|
|
|
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
|
|
|
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
|
|
|
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
|
|
|
NM_001083614.2(EARS2):c.569G>A (p.Arg190His)
|
rs533072942
|
|
NM_001136193.2(FASTKD2):c.1156T>C (p.Leu386=)
|
|
|
NM_001136193.2(FASTKD2):c.266G>A (p.Gly89Asp)
|
|
|
NM_001136193.2(FASTKD2):c.484G>A (p.Glu162Lys)
|
|
|
NM_001277062.2(MFF):c.403G>A (p.Val135Ile)
|
|
|
NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg)
|
|
|
NM_001278716.2(FBXL4):c.1317+137T>C
|
|
|
NM_001278716.2(FBXL4):c.1390-2172C>T
|
|
|
NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)
|
|
|
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu)
|
rs779731686
|
|
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
|
|
|
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)
|
rs775741794
|
|
NM_001358921.2(COQ2):c.254-2A>T
|
|
|
NM_001358921.2(COQ2):c.762+1G>A
|
|
|
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)
|
|
|
NM_001687.5(ATP5F1D):c.349G>T (p.Glu117Ter)
|
|
|
NM_001916.5(CYC1):c.11C>T (p.Ala4Val)
|
|
|
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
|
|
|
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)
|
|
|
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)
|
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
|
NM_002488.5(NDUFA2):c.199G>T (p.Ala67Ser)
|
|
|
NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)
|
|
|
NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser)
|
|
|
NM_002541.4(OGDH):c.2761A>G (p.Met921Val)
|
|
|
NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)
|
|
|
NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)
|
|
|
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
|
rs2058357964
|
|
NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)
|
|
|
NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)
|
|
|
NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)
|
|
|
NM_003119.4(SPG7):c.619-3C>G
|
rs199740629
|
|
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
|
|
|
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
|
|
|
NM_003201.3(TFAM):c.313G>A (p.Ala105Thr)
|
|
|
NM_003366.4(UQCRC2):c.206G>A (p.Ser69Asn)
|
|
|
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro)
|
rs2141926322
|
|
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)
|
rs200189510
|
|
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)
|
|
|
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
|
|
|
NM_003477.3(PDHX):c.293C>T (p.Ala98Val)
|
|
|
NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)
|
|
|
NM_003849.4(SUCLG1):c.40A>G (p.Met14Val)
|
rs796052053
|
|
NM_003849.4(SUCLG1):c.548T>G (p.Ile183Ser)
|
|
|
NM_003849.4(SUCLG1):c.844G>A (p.Val282Ile)
|
|
|
NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)
|
|
|
NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)
|
|
|
NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)
|
|
|
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)
|
rs1555256440
|
|
NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)
|
|
|
NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)
|
|
|
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
|
|
|
NM_004544.4(NDUFA10):c.1025_1026insATGG (p.Tyr343fs)
|
|
|
NM_004544.4(NDUFA10):c.604dup (p.His202fs)
|
rs746019378
|
|
NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)
|
|
|
NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)
|
|
|
NM_004589.4(SCO1):c.555del (p.Asp185fs)
|
|
|
NM_005002.5(NDUFA9):c.158G>C (p.Gly53Ala)
|
|
|
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)
|
rs35263902
|
|
NM_005002.5(NDUFA9):c.721T>C (p.Tyr241His)
|
|
|
NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys)
|
|
|
NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)
|
|
|
NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)
|
|
|
NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr)
|
|
|
NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)
|
|
|
NM_005035.4(POLRMT):c.2177G>A (p.Cys726Tyr)
|
|
|
NM_005035.4(POLRMT):c.2911G>A (p.Ala971Thr)
|
|
|
NM_005035.4(POLRMT):c.578G>A (p.Arg193Gln)
|
|
|
NM_005035.4(POLRMT):c.789G>T (p.Met263Ile)
|
|
|
NM_005726.6(TSFM):c.321T>G (p.Ile107Met)
|
|
|
NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)
|
|
|
NM_007103.4(NDUFV1):c.283A>G (p.Thr95Ala)
|
rs147242476
|
|
NM_012123.4(MTO1):c.1436A>G (p.Asp479Gly)
|
|
|
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs)
|
rs759445569
|
|
NM_012123.4(MTO1):c.392G>A (p.Arg131Lys)
|
|
|
NM_015697.9(COQ2):c.48dup (p.Ala17fs)
|
rs767298430
|
|
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)
|
|
|
NM_015965.7(NDUFA13):c.2T>C (p.Met1Thr)
|
|
|
NM_016013.4(NDUFAF1):c.624_625del (p.Tyr209fs)
|
|
|
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)
|
rs995894816
|
|
NM_016035.5(COQ4):c.794C>T (p.Ala265Val)
|
|
|
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)
|
rs772721937
|
|
NM_016360.4(TACO1):c.693+4A>G
|
|
|
NM_016360.4(TACO1):c.814G>A (p.Asp272Asn)
|
|
|
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs)
|
rs750461248
|
|
NM_017547.4(FOXRED1):c.1234_1239del (p.Asp412_Tyr413del)
|
|
|
NM_017547.4(FOXRED1):c.354G>C (p.Gln118His)
|
|
|
NM_017547.4(FOXRED1):c.50G>A (p.Arg17Gln)
|
|
|
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala)
|
rs536400690
|
|
NM_017547.4(FOXRED1):c.677G>A (p.Gly226Glu)
|
|
|
NM_017547.4(FOXRED1):c.682C>T (p.Arg228Trp)
|
rs758966293
|
|
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)
|
|
|
NM_017866.6(TMEM70):c.354C>G (p.Gly118=)
|
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)
|
|
|
NM_018006.5(TRMU):c.-454_-452del
|
|
|
NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)
|
|
|
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
|
|
|
NM_018060.4(IARS2):c.991G>A (p.Val331Ile)
|
|
|
NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)
|
|
|
NM_018116.4(MSTO1):c.220+5G>C
|
|
|
NM_018122.5(DARS2):c.1028A>G (p.Asp343Gly)
|
|
|
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)
|
rs972404343
|
|
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter)
|
rs1359575116
|
|
NM_018480.7(TMEM126B):c.626T>C (p.Ile209Thr)
|
|
|
NM_018838.5(NDUFA12):c.153CAA[1] (p.Asn52del)
|
|
|
NM_018838.5(NDUFA12):c.83dup (p.Arg29fs)
|
rs1259705655
|
|
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser)
|
rs778948697
|
|
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
|
|
|
NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly)
|
|
|
NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu)
|
|
|
NM_020320.5(RARS2):c.19C>A (p.Arg7Ser)
|
|
|
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
|
|
|
NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)
|
|
|
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)
|
rs782439454
|
|
NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)
|
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
|
|
NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)
|
|
|
NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)
|
|
|
NM_021074.5(NDUFV2):c.121-3T>C
|
|
|
NM_021074.5(NDUFV2):c.579+1G>A
|
|
|
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
|
|
|
NM_024120.5(NDUFAF5):c.328-3C>T
|
|
|
NM_024120.5(NDUFAF5):c.837G>A (p.Met279Ile)
|
|
|
NM_024407.5(NDUFS7):c.520G>A (p.Val174Met)
|
|
|
NM_024537.4(CARS2):c.1417-2A>C
|
|
|
NM_024537.4(CARS2):c.204del (p.His69fs)
|
|
|
NM_024996.7(GFM1):c.1209C>A (p.Ala403=)
|
|
|
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
|
|
|
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
|
|
|
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
|
|
|
NM_025150.5(TARS2):c.774+5G>T
|
|
|
NM_025152.3(NUBPL):c.201A>G (p.Lys67=)
|
|
|
NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)
|
|
|
NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)
|
|
|
NM_025152.3(NUBPL):c.514-19835C>A
|
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
|
NM_032380.5(GFM2):c.2164C>T (p.Gln722Ter)
|
|
|
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
|
|
|
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
|
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)
|
rs576602246
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
NM_052865.4(MGME1):c.203C>G (p.Thr68Ser)
|
|
|
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
|
|
|
NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile)
|
|
|
NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)
|
|
|
NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)
|
|
|
NM_133259.4(LRPPRC):c.1649+3A>G
|
|
|
NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile)
|
|
|
NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)
|
|
|
NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)
|
|
|
NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)
|
|
|
NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)
|
|
|
NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)
|
|
|
NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
|
|
|
NM_174889.5(NDUFAF2):c.263T>C (p.Ile88Thr)
|
|
|
NM_174889.5(NDUFAF2):c.50G>A (p.Arg17Lys)
|
|
|
NM_176818.3(GATC):c.128T>C (p.Leu43Pro)
|
|
|
NM_181705.4(LYRM7):c.128A>G (p.Asn43Ser)
|
|
|
NM_181705.4(LYRM7):c.142TCT[1] (p.Ser49del)
|
|
|
NM_194279.4(ISCA2):c.422A>T (p.Gln141Leu)
|
|
|
NM_199069.2(NDUFAF3):c.517G>A (p.Gly173Arg)
|
|
|
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter)
|
rs527841371
|
|
NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)
|
|
|
NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)
|
|
|