NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_020745.4(AARS2):c.1534G>C (p.Asp512His)
|
rs146512155
|
0.00073
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)
|
rs115047866
|
0.00067
|
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)
|
rs144042123
|
0.00052
|
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)
|
rs145039072
|
0.00042
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)
|
rs202060864
|
0.00028
|
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)
|
rs146503501
|
0.00028
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)
|
rs535877562
|
0.00020
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)
|
rs119478059
|
0.00012
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_020442.6(VARS2):c.2467-2A>G
|
rs200075594
|
0.00011
|
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)
|
rs139515727
|
0.00011
|
NM_024996.7(GFM1):c.689+908G>A
|
rs751069628
|
0.00011
|
NM_001136193.2(FASTKD2):c.882-1G>A
|
rs767682048
|
0.00010
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)
|
rs779598020
|
0.00006
|
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)
|
rs146988468
|
0.00006
|
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)
|
rs201408725
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)
|
rs143821815
|
0.00005
|
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)
|
rs771890880
|
0.00005
|
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)
|
rs587777688
|
0.00004
|
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
|
rs775623164
|
0.00004
|
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)
|
rs748152539
|
0.00004
|
NM_024996.7(GFM1):c.997_998+2del
|
rs763084523
|
0.00004
|
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)
|
rs1382181446
|
0.00004
|
NM_032620.4(GTPBP3):c.592-1G>C
|
rs763165541
|
0.00004
|
NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser)
|
rs777934121
|
0.00004
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln)
|
rs150879145
|
0.00003
|
NM_006567.5(FARS2):c.589G>A (p.Val197Met)
|
rs149605576
|
0.00002
|
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln)
|
rs765548847
|
0.00002
|
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys)
|
rs1459252796
|
0.00002
|
NM_018127.7(ELAC2):c.2030-2A>G
|
rs1033730754
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)
|
rs753352064
|
0.00002
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)
|
rs760208518
|
0.00002
|
NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys)
|
rs1355685453
|
0.00001
|
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)
|
rs1021330566
|
0.00001
|
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter)
|
rs994917847
|
0.00001
|
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter)
|
rs751316870
|
0.00001
|
NM_001206427.2(ATP5MK):c.87+2dup
|
rs1339841048
|
0.00001
|
NM_001379210.1(SLC25A26):c.33+1G>A
|
rs781798317
|
0.00001
|
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)
|
rs752742151
|
0.00001
|
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter)
|
rs751169823
|
0.00001
|
NM_005726.6(TSFM):c.557T>A (p.Leu186Ter)
|
rs373811833
|
0.00001
|
NM_005726.6(TSFM):c.571+1G>C
|
rs750371292
|
0.00001
|
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)
|
rs1491203033
|
0.00001
|
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)
|
rs780533096
|
0.00001
|
NM_005932.4(MIPEP):c.786+1G>C
|
rs1408067328
|
0.00001
|
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)
|
rs397514612
|
0.00001
|
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)
|
rs397514611
|
0.00001
|
NM_012123.4(MTO1):c.1261-5T>G
|
rs1275100093
|
0.00001
|
NM_012123.4(MTO1):c.417+2T>C
|
rs1030161382
|
0.00001
|
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln)
|
rs371179032
|
0.00001
|
NM_018127.7(ELAC2):c.1305-2A>G
|
rs779254943
|
0.00001
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)
|
rs550032922
|
0.00001
|
NM_018127.7(ELAC2):c.245+2T>A
|
rs748684065
|
0.00001
|
NM_018127.7(ELAC2):c.432+1G>A
|
rs769454280
|
0.00001
|
NM_020745.4(AARS2):c.2146-2A>G
|
rs368934219
|
0.00001
|
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)
|
rs200187887
|
0.00001
|
NM_023936.2(MRPS34):c.562G>A (p.Glu188Lys)
|
rs1313473522
|
0.00001
|
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)
|
rs727505361
|
0.00001
|
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)
|
rs766234016
|
0.00001
|
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)
|
rs775919783
|
0.00001
|
NM_024996.7(GFM1):c.1596del (p.Val533fs)
|
rs761095873
|
0.00001
|
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)
|
rs762576741
|
0.00001
|
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)
|
rs889180452
|
0.00001
|
NM_024996.7(GFM1):c.1910-1G>A
|
rs1462851267
|
0.00001
|
NM_024996.7(GFM1):c.1910-2A>T
|
rs867885977
|
0.00001
|
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)
|
rs1402362655
|
0.00001
|
NM_024996.7(GFM1):c.424del (p.Val142fs)
|
rs886058120
|
0.00001
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
NM_024996.7(GFM1):c.689+1G>A
|
rs1449057162
|
0.00001
|
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)
|
rs763344414
|
0.00001
|
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)
|
rs863224032
|
0.00001
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
NM_024996.7(GFM1):c.81+1G>A
|
rs1262218849
|
0.00001
|
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys)
|
rs749476185
|
0.00001
|
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)
|
rs767519084
|
0.00001
|
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln)
|
rs760526545
|
0.00001
|
NM_025150.5(TARS2):c.387+6T>C
|
rs1064797119
|
0.00001
|
NM_025150.5(TARS2):c.695+3A>G
|
rs587777594
|
0.00001
|
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val)
|
rs774708853
|
0.00001
|
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)
|
rs200088200
|
0.00001
|
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)
|
rs574670461
|
0.00001
|
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter)
|
rs397514613
|
0.00001
|
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter)
|
rs756173225
|
0.00001
|
NC_000006.11:g.(?_5404755)_(5404954_?)dup
|
|
|
NC_000006.11:g.(?_5545393)_(5545593_?)dup
|
|
|
NC_000006.11:g.(?_5613382)_(5613573_?)dup
|
|
|
NC_000006.11:g.(?_74183068)_(74183397_?)dup
|
|
|
NC_000006.11:g.(?_74191743)_(74192363_?)dup
|
|
|
NC_000006.11:g.5193615_5281296del
|
|
|
NC_000006.11:g.5262296_5395849del133554
|
|
|
NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter)
|
|
|
NM_001083614.2(EARS2):c.947C>G (p.Ser316Ter)
|
|
|
NM_001136193.2(FASTKD2):c.1538del (p.Leu513fs)
|
rs1690150292
|
|
NM_001136193.2(FASTKD2):c.496_497del (p.Leu166fs)
|
|
|
NM_001136193.2(FASTKD2):c.991-2A>G
|
|
|
NM_001172696.1(TSFM):c.[355G>C];[997C>T]
|
|
|
NM_001379210.1(SLC25A26):c.191-1G>T
|
|
|
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro)
|
rs924099073
|
|
NM_004046.6(ATP5F1A):c.1176+1G>C
|
rs1131691396
|
|
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
|
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu)
|
rs2030801584
|
|
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del)
|
rs748846799
|
|
NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter)
|
rs200224860
|
|
NM_005035.4(POLRMT):c.954-1G>C
|
|
|
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
|
|
|
NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)
|
|
|
NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)
|
|
|
NM_005726.6(TSFM):c.192C>A (p.Cys64Ter)
|
rs752852871
|
|
NM_005726.6(TSFM):c.223del (p.Leu75fs)
|
|
|
NM_005726.6(TSFM):c.231+1G>A
|
|
|
NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)
|
|
|
NM_005726.6(TSFM):c.259C>T (p.Gln87Ter)
|
|
|
NM_005726.6(TSFM):c.27_28del (p.Phe10fs)
|
rs2140412540
|
|
NM_005726.6(TSFM):c.382del (p.Val128fs)
|
|
|
NM_005726.6(TSFM):c.399del (p.Lys133fs)
|
rs1955600413
|
|
NM_005726.6(TSFM):c.484-1G>A
|
|
|
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)
|
|
|
NM_005726.6(TSFM):c.545_548del (p.Leu182fs)
|
|
|
NM_005726.6(TSFM):c.551del (p.Asp184fs)
|
|
|
NM_005726.6(TSFM):c.57+1G>A
|
rs1403882425
|
|
NM_005726.6(TSFM):c.5C>A (p.Ser2Ter)
|
|
|
NM_005726.6(TSFM):c.600dup (p.Arg201fs)
|
|
|
NM_005726.6(TSFM):c.611G>A (p.Trp204Ter)
|
|
|
NM_005726.6(TSFM):c.628_629insCATG (p.Gly210fs)
|
|
|
NM_005726.6(TSFM):c.719G>C (p.Cys240Ser)
|
|
|
NM_005726.6(TSFM):c.74del (p.Arg25fs)
|
|
|
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter)
|
rs774870834
|
|
NM_005726.6(TSFM):c.774G>C (p.Gln258His)
|
|
|
NM_005726.6(TSFM):c.796dup (p.Leu266fs)
|
|
|
NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs)
|
|
|
NM_005726.6(TSFM):c.808_809del (p.Ser270fs)
|
|
|
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter)
|
rs2140413092
|
|
NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro)
|
rs1869287041
|
|
NM_005932.4(MIPEP):c.1848+2T>G
|
|
|
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter)
|
rs866158774
|
|
NM_005932.4(MIPEP):c.890G>C (p.Gly297Ala)
|
|
|
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)
|
rs770597592
|
|
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser)
|
rs1407198979
|
|
NM_006567.5(FARS2):c.1244G>A (p.Arg415His)
|
|
|
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu)
|
rs202183509
|
|
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)
|
rs1561847309
|
|
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg)
|
rs1554169280
|
|
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala)
|
rs770035560
|
|
NM_006567.5(FARS2):c.403C>G (p.His135Asp)
|
rs1554169353
|
|
NM_006567.5(FARS2):c.424G>A (p.Asp142Asn)
|
rs145555213
|
|
NM_006567.5(FARS2):c.425A>G (p.Asp142Gly)
|
rs2127643852
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly)
|
rs1561990337
|
|
NM_006567.5(FARS2):c.530T>A (p.Val177Asp)
|
rs1561990552
|
|
NM_006567.5(FARS2):c.613-2A>G
|
|
|
NM_006567.5(FARS2):c.821_824del (p.Ser274fs)
|
|
|
NM_006567.5(FARS2):c.905-1G>A
|
rs1298860043
|
|
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)
|
rs746746116
|
|
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)
|
|
|
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)
|
rs764427452
|
|
NM_007208.4(MRPL3):c.93-2A>C
|
|
|
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)
|
rs141970072
|
|
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys)
|
rs1033653237
|
|
NM_012123.4(MTO1):c.153_174del (p.Thr53fs)
|
rs1770832882
|
|
NM_012123.4(MTO1):c.1756+2T>C
|
|
|
NM_012123.4(MTO1):c.344del (p.Asn115fs)
|
rs1297994959
|
|
NM_012123.4(MTO1):c.535+1G>A
|
|
|
NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)
|
|
|
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn)
|
rs1554148965
|
|
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)
|
|
|
NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)
|
|
|
NM_016034.5(MRPS2):c.300-2A>G
|
|
|
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)
|
rs772721937
|
|
NM_017646.6(TRIT1):c.1235-2A>G
|
|
|
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)
|
rs184469579
|
|
NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)
|
|
|
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)
|
rs769890347
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017909.4(RMND1):c.388del (p.Val130fs)
|
rs1582970514
|
|
NM_017909.4(RMND1):c.727del (p.Thr243fs)
|
rs1582957532
|
|
NM_017909.4(RMND1):c.859A>T (p.Ile287Phe)
|
rs763077801
|
|
NM_017952.6(PTCD3):c.1979+1G>A
|
|
|
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg)
|
rs1555575927
|
|
NM_018127.7(ELAC2):c.1080-1G>C
|
rs2143607002
|
|
NM_018127.7(ELAC2):c.1521-2A>G
|
|
|
NM_018127.7(ELAC2):c.1699-1G>A
|
|
|
NM_018127.7(ELAC2):c.1809-1G>A
|
|
|
NM_018127.7(ELAC2):c.1908+1G>A
|
rs1014558424
|
|
NM_018127.7(ELAC2):c.2029+1G>A
|
|
|
NM_018127.7(ELAC2):c.2109-6_2111del
|
|
|
NM_018127.7(ELAC2):c.246-2A>G
|
rs2143692659
|
|
NM_018127.7(ELAC2):c.797+1G>A
|
|
|
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala)
|
rs1555576642
|
|
NM_018127.7(ELAC2):c.984-2A>G
|
|
|
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)
|
rs1562168768
|
|
NM_020191.4(MRPS22):c.481dup (p.Ile161fs)
|
|
|
NM_020191.4(MRPS22):c.992_993del (p.Phe331fs)
|
|
|
NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter)
|
|
|
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro)
|
rs775439829
|
|
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del)
|
rs1554268077
|
|
NM_020442.6(VARS2):c.1480-2A>G
|
|
|
NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)
|
|
|
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter)
|
rs2150570235
|
|
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs)
|
rs1794789052
|
|
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro)
|
rs1170907347
|
|
NM_020745.4(AARS2):c.2599-1G>A
|
rs1785349774
|
|
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter)
|
rs1786349461
|
|
NM_020745.4(AARS2):c.790G>A (p.Val264Met)
|
rs2153356902
|
|
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
|
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr)
|
rs766935145
|
|
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)
|
rs761343107
|
|
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)
|
rs143697995
|
|
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)
|
rs1131692037
|
|
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)
|
|
|
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter)
|
rs1887501594
|
|
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)
|
rs1565216037
|
|
NM_024678.6(NARS2):c.822+6703_959+1726del
|
|
|
NM_024678.6(NARS2):c.822+6704_959+1727del
|
|
|
NM_024678.6(NARS2):c.947del (p.Asn316fs)
|
rs755975670
|
|
NM_024678.6(NARS2):c.959+1505T>G
|
|
|
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)
|
rs565224393
|
|
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
|
|
|
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
|
|
|
NM_024996.7(GFM1):c.114_115del (p.Val40fs)
|
|
|
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
|
|
|
NM_024996.7(GFM1):c.1157dup (p.Asn386fs)
|
|
|
NM_024996.7(GFM1):c.1172del (p.Lys391fs)
|
rs1263604546
|
|
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)
|
rs1332636394
|
|
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)
|
|
|
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)
|
|
|
NM_024996.7(GFM1):c.136del (p.Ile46fs)
|
|
|
NM_024996.7(GFM1):c.1380+2T>G
|
|
|
NM_024996.7(GFM1):c.1381-1G>C
|
|
|
NM_024996.7(GFM1):c.1424del (p.Arg475fs)
|
rs1723572750
|
|
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
|
|
|
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)
|
rs768112611
|
|
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
|
|
|
NM_024996.7(GFM1):c.1601+1G>A
|
rs748116978
|
|
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)
|
|
|
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)
|
rs752037355
|
|
NM_024996.7(GFM1):c.1764+2T>C
|
rs1725442904
|
|
NM_024996.7(GFM1):c.1765-2A>G
|
rs2108102423
|
|
NM_024996.7(GFM1):c.1799del (p.Ser600fs)
|
|
|
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
|
|
|
NM_024996.7(GFM1):c.1909+2T>A
|
|
|
NM_024996.7(GFM1):c.1951del (p.Ala651fs)
|
|
|
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)
|
|
|
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)
|
|
|
NM_024996.7(GFM1):c.247_248del (p.Asp83fs)
|
rs1721780124
|
|
NM_024996.7(GFM1):c.273del (p.Met92fs)
|
rs863224033
|
|
NM_024996.7(GFM1):c.291_292del (p.Gly99fs)
|
rs752400894
|
|
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)
|
|
|
NM_024996.7(GFM1):c.361dup (p.Thr121fs)
|
|
|
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)
|
|
|
NM_024996.7(GFM1):c.367+1G>A
|
|
|
NM_024996.7(GFM1):c.368-2A>C
|
|
|
NM_024996.7(GFM1):c.368-2A>G
|
|
|
NM_024996.7(GFM1):c.381del (p.Phe127fs)
|
|
|
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)
|
rs1553847587
|
|
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)
|
|
|
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)
|
rs1721865059
|
|
NM_024996.7(GFM1):c.54del (p.Ala19fs)
|
rs765266988
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_024996.7(GFM1):c.573-2A>G
|
|
|
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
|
|
|
NM_024996.7(GFM1):c.626del (p.Gly209fs)
|
|
|
NM_024996.7(GFM1):c.636del (p.Gly213fs)
|
|
|
NM_024996.7(GFM1):c.689+2T>C
|
|
|
NM_024996.7(GFM1):c.690_693del
|
rs778902849
|
|
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)
|
|
|
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)
|
|
|
NM_024996.7(GFM1):c.748del (p.Arg250fs)
|
rs2108016910
|
|
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
|
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)
|
rs763423294
|
|
NM_024996.7(GFM1):c.909del (p.Asn303fs)
|
|
|
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)
|
|
|
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)
|
rs1722463582
|
|
NM_024996.7(GFM1):c.974del (p.Asn325fs)
|
|
|
NM_024996.7(GFM1):c.999-1G>A
|
rs757524798
|
|
NM_024996.7(GFM1):c.999-1G>C
|
|
|
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
|
|
|
NM_025150.5(TARS2):c.1255C>T (p.Arg419Trp)
|
|
|
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly)
|
rs2102494691
|
|
NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys)
|
|
|
NM_025150.5(TARS2):c.1678G>C (p.Asp560His)
|
rs2102510285
|
|
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)
|
rs1322913410
|
|
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr)
|
rs1064797120
|
|
NM_025150.5(TARS2):c.388-1G>C
|
rs2102476204
|
|
NM_025150.5(TARS2):c.464C>T (p.Pro155Leu)
|
|
|
NM_025150.5(TARS2):c.774+5G>T
|
|
|
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu)
|
rs587777593
|
|
NM_025150.5(TARS2):c.980G>A (p.Arg327Gln)
|
|
|
NM_032380.5(GFM2):c.304+1G>A
|
|
|
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro)
|
rs770871640
|
|
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)
|
rs558425417
|
|
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp)
|
rs1274363168
|
|
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro)
|
rs766510741
|
|
NM_032620.4(GTPBP3):c.967del (p.Arg323fs)
|
|
|
NM_033109.5(PNPT1):c.1284+4A>C
|
|
|
NM_033109.5(PNPT1):c.1400C>A (p.Pro467His)
|
|
|
NM_033109.5(PNPT1):c.1906+1G>A
|
rs1695931094
|
|
NM_033109.5(PNPT1):c.2014-3C>G
|
rs748445058
|
|
NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter)
|
rs780383722
|
|
NM_033109.5(PNPT1):c.407G>A (p.Arg136His)
|
rs746356243
|
|
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr)
|
rs1365308037
|
|
NM_139242.4(MTFMT):c.1116del (p.Pro373fs)
|
rs863224897
|
|
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)
|
rs397514614
|
|
NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter)
|
rs771725115
|
|
NM_145691.4(ATPAF2):c.98del (p.Ile33fs)
|
rs2044747934
|
|
NM_152269.5(MTRFR):c.248del (p.Val83fs)
|
rs587776508
|
|
NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)
|
|
|
Single allele
|
|
|