NM_078470.6(COX15):c.452C>G (p.Ser151Ter)
|
rs149718203
|
0.00030
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)
|
rs782623477
|
0.00007
|
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)
|
rs121913660
|
0.00006
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
NM_003172.4(SURF1):c.240+1G>T
|
rs781948238
|
0.00004
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00004
|
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
|
rs121913659
|
0.00004
|
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)
|
rs267606829
|
0.00004
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)
|
rs768050261
|
0.00002
|
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)
|
rs761389904
|
0.00002
|
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)
|
rs121908577
|
0.00001
|
NM_002495.4(NDUFS4):c.99-1G>A
|
rs376281345
|
0.00001
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)
|
rs1187982748
|
0.00001
|
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)
|
rs121918657
|
0.00001
|
NM_003172.4(SURF1):c.752-1G>C
|
rs1391748504
|
0.00001
|
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)
|
rs782601312
|
0.00001
|
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)
|
rs121913661
|
0.00001
|
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)
|
rs368690277
|
0.00001
|
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)
|
rs778412019
|
0.00001
|
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)
|
rs772294726
|
0.00001
|
NC_000005.9:g.(60241210_60368951)_(60448865_?)del
|
|
|
NC_000005.9:g.(?_60240955)_(60241210_60368951)del
|
|
|
NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del
|
|
|
NC_000011.9:g.(67377107_67377851)_(67380013_?)del
|
|
|
NC_000011.9:g.(67378042_67378465)_(67380013_?)del
|
|
|
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)
|
|
|
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)
|
|
|
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs)
|
rs2128375658
|
|
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
|
|
|
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)
|
rs121908985
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
NM_002495.4(NDUFS4):c.350+1G>A
|
rs1260453815
|
|
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)
|
rs587776949
|
|
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)
|
rs1445075330
|
|
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)
|
rs1740730588
|
|
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs)
|
|
|
NM_003172.4(SURF1):c.106+1G>C
|
rs863224926
|
|
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
|
rs1433471292
|
|
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)
|
rs1836590782
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228
|
|
NM_003172.4(SURF1):c.367_368del (p.Arg123fs)
|
rs2119083553
|
|
NM_003172.4(SURF1):c.51_54+1dup
|
rs2119089032
|
|
NM_003172.4(SURF1):c.532_535del (p.Asn178fs)
|
rs1057517942
|
|
NM_003172.4(SURF1):c.534_535del (p.Asn178fs)
|
rs1242159511
|
|
NM_003172.4(SURF1):c.552del (p.Lys185fs)
|
rs782542152
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)
|
rs1554768333
|
|
NM_003172.4(SURF1):c.754_755del
|
rs782007828
|
|
NM_003172.4(SURF1):c.758_759del (p.Thr253fs)
|
rs782349178
|
|
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
|
|
|
NM_003172.4(SURF1):c.792_793del (p.Arg264fs)
|
rs782490558
|
|
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup)
|
rs782161777
|
|
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
|
|
|
NM_003172.4(SURF1):c.833+1G>C
|
rs782609482
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)
|
rs2119079745
|
|
NM_003172.4(SURF1):c.870dup (p.Lys291Ter)
|
rs782061187
|
|
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
|
|
|
NM_007103.4(NDUFV1):c.499del (p.Ser167fs)
|
|
|
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
|
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs)
|
rs2147463824
|
|
NM_024120.5(NDUFAF5):c.519+2T>C
|
|
|
NM_024120.5(NDUFAF5):c.519+2T>G
|
rs2147534220
|
|
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
|
|
|
NM_024407.5(NDUFS7):c.17-1167C>G
|
rs1568985256
|
|
NM_078470.6(COX15):c.79_90+3delinsGACT
|
|
|
NM_174889.5(NDUFAF2):c.130_131del (p.Gln44fs)
|
rs1752321639
|
|
NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)
|
|
|