NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)
|
rs121913660
|
0.00006
|
NM_024120.5(NDUFAF5):c.519+4A>G
|
rs373951216
|
0.00006
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)
|
rs587776498
|
0.00004
|
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)
|
rs755312472
|
0.00003
|
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)
|
rs187584458
|
0.00003
|
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)
|
rs201992354
|
0.00002
|
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)
|
rs200756131
|
0.00002
|
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)
|
rs761389904
|
0.00002
|
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)
|
rs28939679
|
0.00001
|
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)
|
rs764276946
|
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_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)
|
rs776114731
|
0.00001
|
NM_017547.4(FOXRED1):c.734-1G>C
|
rs1296948086
|
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_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)
|
rs774934005
|
0.00001
|
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter)
|
rs758615834
|
0.00001
|
NM_133259.4(LRPPRC):c.244C>T (p.Gln82Ter)
|
rs754855090
|
0.00001
|
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)
|
rs1453934366
|
0.00001
|
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)
|
rs1166980943
|
0.00001
|
NM_133259.4(LRPPRC):c.4128+1G>A
|
rs1475772376
|
0.00001
|
NM_133259.4(LRPPRC):c.650+1G>C
|
rs1249427615
|
0.00001
|
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
|
|
|
NC_012920.1(MT-ATP6):m.8783G>A
|
rs1603221804
|
|
NC_012920.1(MT-ATP6):m.9049G>A
|
rs1603222011
|
|
NC_012920.1(MT-ATP6):m.9134A>G
|
rs1603222119
|
|
NC_012920.1(MT-CO1):m.6526T>C
|
rs1603220522
|
|
NC_012920.1(MT-ND1):m.3685T>C
|
rs1603219079
|
|
NC_012920.1(MT-ND2):m.4611del
|
rs1603219523
|
|
NC_012920.1(MT-ND3):m.10197G>A
|
rs267606891
|
|
NC_012920.1(MT-ND4):m.11621_11622del
|
rs1603223363
|
|
NC_012920.1(MT-ND5):m.12923G>A
|
|
|
NC_012920.1(MT-ND5):m.13063G>A
|
rs1603224017
|
|
NC_012920.1:m.8851T>C
|
rs199476136
|
|
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)
|
rs1057521059
|
|
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_001697.3(ATP5PO):c.87+3A>G
|
rs1987287870
|
|
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
|
|
|
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)
|
rs1740730588
|
|
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs)
|
|
|
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)
|
rs1267554976
|
|
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)
|
rs863224229
|
|
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.504C>A (p.Cys168Ter)
|
rs1564349087
|
|
NM_003172.4(SURF1):c.51_54+1dup
|
rs2119089032
|
|
NM_003172.4(SURF1):c.534_535del (p.Asn178fs)
|
rs1242159511
|
|
NM_003172.4(SURF1):c.54+1G>A
|
|
|
NM_003172.4(SURF1):c.54+34_55-2del
|
|
|
NM_003172.4(SURF1):c.54+40_55del
|
|
|
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.752-3C>G
|
|
|
NM_003172.4(SURF1):c.754_755del
|
rs782007828
|
|
NM_003172.4(SURF1):c.759dup (p.Val254fs)
|
rs1554768246
|
|
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
|
rs1588688823
|
|
NM_003172.4(SURF1):c.799_800del (p.Leu267fs)
|
rs864309500
|
|
NM_003172.4(SURF1):c.833+1G>C
|
rs782609482
|
|
NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC
|
rs2119079909
|
|
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)
|
rs746519257
|
|
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)
|
rs587776497
|
|
NM_005006.7(NDUFS1):c.1393-7_1393-3del
|
rs1559047521
|
|
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)
|
rs747249702
|
|
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
|
|
|
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)
|
rs1591111808
|
|
NM_015378.4(VPS13D):c.12662+1059C>G
|
|
|
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
|
|
|
NM_017446.4(MRPL39):c.589-924G>A
|
rs1209423257
|
|
NM_017446.4(MRPL39):c.921+5G>A
|
|
|
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
|
|
|
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)
|
|
|
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)
|
rs1131692037
|
|
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_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs)
|
|
|
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter)
|
rs1553410995
|
|
NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs)
|
rs2103713116
|
|
NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs)
|
|
|
NM_133259.4(LRPPRC):c.1156-2A>C
|
|
|
NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter)
|
|
|
NM_133259.4(LRPPRC):c.1165_1198del (p.Lys389fs)
|
|
|
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His)
|
rs863224054
|
|
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp)
|
rs863224054
|
|
NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter)
|
|
|
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs)
|
rs1553410876
|
|
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter)
|
rs1553410866
|
|
NM_133259.4(LRPPRC):c.1216_1237dup (p.Cys413fs)
|
|
|
NM_133259.4(LRPPRC):c.1261+2T>C
|
rs1553410852
|
|
NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)
|
|
|
NM_133259.4(LRPPRC):c.1369+2T>A
|
|
|
NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter)
|
|
|
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs)
|
rs1553408603
|
|
NM_133259.4(LRPPRC):c.1389_1393del (p.Lys463fs)
|
|
|
NM_133259.4(LRPPRC):c.149+1G>T
|
|
|
NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs)
|
|
|
NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs)
|
|
|
NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter)
|
|
|
NM_133259.4(LRPPRC):c.1544_1548dup (p.Ala517fs)
|
|
|
NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs)
|
|
|
NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter)
|
|
|
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter)
|
rs896524026
|
|
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)
|
rs775735922
|
|
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)
|
rs1553406772
|
|
NM_133259.4(LRPPRC):c.1677+1G>T
|
rs2103624540
|
|
NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter)
|
rs1672822541
|
|
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs)
|
rs750343121
|
|
NM_133259.4(LRPPRC):c.1735+2T>C
|
|
|
NM_133259.4(LRPPRC):c.1775del (p.Met592fs)
|
|
|
NM_133259.4(LRPPRC):c.1842+2T>A
|
rs1553404194
|
|
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)
|
rs752914914
|
|
NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs)
|
|
|
NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter)
|
|
|
NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)
|
|
|
NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs)
|
|
|
NM_133259.4(LRPPRC):c.1965+2T>C
|
|
|
NM_133259.4(LRPPRC):c.1966-2A>G
|
|
|
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs)
|
rs1553403879
|
|
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
|
|
|
NM_133259.4(LRPPRC):c.2024dup (p.Asn675fs)
|
|
|
NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)
|
|
|
NM_133259.4(LRPPRC):c.2080-1G>C
|
rs1553403596
|
|
NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter)
|
|
|
NM_133259.4(LRPPRC):c.2106del (p.Ala703fs)
|
|
|
NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs)
|
|
|
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter)
|
rs1022152551
|
|
NM_133259.4(LRPPRC):c.2211-1G>A
|
|
|
NM_133259.4(LRPPRC):c.2225C>A (p.Ser742Ter)
|
|
|
NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs)
|
|
|
NM_133259.4(LRPPRC):c.2285del (p.Gly762fs)
|
|
|
NM_133259.4(LRPPRC):c.2296+1G>A
|
rs1553403303
|
|
NM_133259.4(LRPPRC):c.2343del (p.Asp783fs)
|
|
|
NM_133259.4(LRPPRC):c.2369dup (p.His791fs)
|
rs2105077651
|
|
NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs)
|
|
|
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs)
|
rs2105077465
|
|
NM_133259.4(LRPPRC):c.2444del (p.Leu815fs)
|
|
|
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter)
|
rs1301842578
|
|
NM_133259.4(LRPPRC):c.245del (p.Gln82fs)
|
|
|
NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs)
|
|
|
NM_133259.4(LRPPRC):c.2505-1G>T
|
rs1553400727
|
|
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)
|
rs1553413047
|
|
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)
|
rs1553400685
|
|
NM_133259.4(LRPPRC):c.2559dup (p.Val854fs)
|
|
|
NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs)
|
|
|
NM_133259.4(LRPPRC):c.2630-5_2630-2del
|
|
|
NM_133259.4(LRPPRC):c.2632dup (p.Met878fs)
|
|
|
NM_133259.4(LRPPRC):c.2736+1G>T
|
rs1553400391
|
|
NM_133259.4(LRPPRC):c.2737-1G>T
|
rs1553398334
|
|
NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter)
|
rs760186575
|
|
NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro)
|
|
|
NM_133259.4(LRPPRC):c.2889del (p.Lys963fs)
|
|
|
NM_133259.4(LRPPRC):c.2941del (p.Ile981fs)
|
|
|
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter)
|
rs1553396232
|
|
NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs)
|
|
|
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys)
|
rs1160846305
|
|
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs)
|
rs1300725076
|
|
NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs)
|
|
|
NM_133259.4(LRPPRC):c.3031del (p.Val1011fs)
|
|
|
NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter)
|
|
|
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter)
|
rs1202515342
|
|
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter)
|
rs1558936154
|
|
NM_133259.4(LRPPRC):c.3148+1G>T
|
|
|
NM_133259.4(LRPPRC):c.3149-2A>T
|
|
|
NM_133259.4(LRPPRC):c.3151del
|
|
|
NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter)
|
|
|
NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs)
|
|
|
NM_133259.4(LRPPRC):c.320_321del (p.Lys107fs)
|
|
|
NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter)
|
|
|
NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs)
|
|
|
NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)
|
|
|
NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs)
|
|
|
NM_133259.4(LRPPRC):c.3286del (p.His1096fs)
|
rs797044605
|
|
NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs)
|
|
|
NM_133259.4(LRPPRC):c.346+1G>T
|
|
|
NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs)
|
|
|
NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs)
|
|
|
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs)
|
rs762254417
|
|
NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter)
|
|
|
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer)
|
rs1553391303
|
|
NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter)
|
|
|
NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs)
|
|
|
NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs)
|
|
|
NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer)
|
|
|
NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs)
|
rs761052211
|
|
NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs)
|
|
|
NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs)
|
|
|
NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs)
|
|
|
NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs)
|
|
|
NM_133259.4(LRPPRC):c.3826-1G>A
|
|
|
NM_133259.4(LRPPRC):c.3928_3938del (p.Leu1310fs)
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NM_133259.4(LRPPRC):c.392del (p.Gly131fs)
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NM_133259.4(LRPPRC):c.3941T>G (p.Leu1314Ter)
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NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs)
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NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter)
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rs863224052
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NM_133259.4(LRPPRC):c.3979_3981delinsGG (p.Ser1327fs)
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NM_133259.4(LRPPRC):c.3979del (p.Ser1327fs)
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NM_133259.4(LRPPRC):c.3985+1811_4077delinsA
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NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile)
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rs1553416989
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NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs)
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NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs)
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NM_133259.4(LRPPRC):c.4128+2T>G
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rs1553388067
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NM_133259.4(LRPPRC):c.451del (p.Asp151fs)
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NM_133259.4(LRPPRC):c.456_457del (p.Leu153fs)
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NM_133259.4(LRPPRC):c.469+1G>A
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rs1060499785
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NM_133259.4(LRPPRC):c.495T>G (p.Tyr165Ter)
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NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter)
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NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter)
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NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs)
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NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter)
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NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter)
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NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter)
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NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs)
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NM_133259.4(LRPPRC):c.580del (p.Gln194fs)
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NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)
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rs989113962
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NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter)
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rs1553411751
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NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)
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rs1553411748
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NM_133259.4(LRPPRC):c.650+1G>A
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NM_133259.4(LRPPRC):c.650+1del
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NM_133259.4(LRPPRC):c.738-1G>A
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NM_133259.4(LRPPRC):c.738-2A>C
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NM_133259.4(LRPPRC):c.811del (p.Leu271fs)
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NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter)
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NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer)
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NM_133259.4(LRPPRC):c.92del (p.Pro31fs)
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NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs)
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NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)
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rs762620949
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NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)
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m.12706T>C
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rs267606893
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m.14453G>A
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rs199476107
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