NM_005006.7(NDUFS1):c.1393-2A>C
|
rs370009373
|
0.00007
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_152416.4(NDUFAF6):c.420+784C>T
|
rs749738738
|
0.00002
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)
|
rs1281276965
|
0.00001
|
NM_001931.5(DLAT):c.975G>A (p.Pro325=)
|
rs1432866316
|
0.00001
|
NM_002693.3(POLG):c.1816dup (p.Thr606fs)
|
rs1319481399
|
0.00001
|
NM_015340.4(LARS2):c.2134C>T (p.Pro712Ser)
|
rs764828665
|
0.00001
|
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr)
|
rs567437692
|
0.00001
|
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)
|
rs535885178
|
0.00001
|
NM_000126.4(ETFA):c.883-1_885del
|
|
|
NM_000126.4(ETFA):c.884_886del (p.Thr295del)
|
rs2038999395
|
|
NM_000182.5(HADHA):c.1086-1_1088dup
|
|
|
NM_000183.3(HADHB):c.631-1G>A
|
rs1553322031
|
|
NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)
|
|
|
NM_000414.4(HSD17B4):c.1604G>T (p.Cys535Phe)
|
|
|
NM_000414.4(HSD17B4):c.2130del (p.Phe710fs)
|
|
|
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)
|
rs1755036404
|
|
NM_000414.4(HSD17B4):c.302+3_307del
|
|
|
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp)
|
rs786205574
|
|
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
|
|
|
NM_001025389.2(AMPD3):c.1815_1816del (p.Ile606fs)
|
|
|
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
|
|
|
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=)
|
rs2106324466
|
|
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)
|
rs1459378570
|
|
NM_001256007.3(PNPLA8):c.1748_1749del (p.Tyr583fs)
|
|
|
NM_001277062.2(MFF):c.-40-841T>G
|
|
|
NM_001277062.2(MFF):c.-40-842dup
|
rs747892565
|
|
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter)
|
rs397514615
|
|
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met)
|
rs1554215959
|
|
NM_003119.4(SPG7):c.2T>C (p.Met1Thr)
|
|
|
NM_003172.4(SURF1):c.657_658del (p.Asn220fs)
|
|
|
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)
|
rs374661051
|
|
NM_003850.3(SUCLA2):c.191T>C (p.Leu64Ser)
|
rs1950196208
|
|
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
|
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)
|
rs786205666
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_007208.4(MRPL3):c.93-2A>C
|
|
|
NM_015713.5(RRM2B):c.184del (p.Ser62fs)
|
|
|
NM_015713.5(RRM2B):c.94G>T (p.Glu32Ter)
|
|
|
NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)
|
|
|
NM_017775.4(TTC19):c.184+1G>A
|
|
|
NM_017775.4(TTC19):c.93dup (p.Leu32fs)
|
|
|
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs)
|
rs777501387
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017952.6(PTCD3):c.1979+1G>A
|
|
|
NM_018238.4(AGK):c.424-3C>G
|
rs766413410
|
|
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)
|
rs1562168768
|
|
NM_020247.5(COQ8A):c.1573-1dup
|
|
|
NM_020247.5(COQ8A):c.815G>C (p.Gly272Ala)
|
|
|
NM_024996.7(GFM1):c.1764+2T>C
|
rs1725442904
|
|
NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter)
|
rs1555338209
|
|
NM_025215.6(PUS1):c.462_463dup (p.Val155fs)
|
|
|
NM_032861.4(SERAC1):c.548G>A (p.Arg183Gln)
|
|
|
NM_033109.5(PNPT1):c.1284+4A>C
|
|
|
NM_052865.4(MGME1):c.589_590del (p.Arg196_Asp197insTer)
|
|
|
NM_078470.6(COX15):c.750+1G>A
|
|
|
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)
|
rs763706988
|
|
NM_133259.4(LRPPRC):c.2106del (p.Ala703fs)
|
|
|
NM_139242.4(MTFMT):c.1116del (p.Pro373fs)
|
rs863224897
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|