NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly)
|
rs7333040
|
0.98618
|
NM_213649.2(SFXN4):c.472-24T>A
|
rs2420494
|
0.98520
|
NM_213649.2(SFXN4):c.354A>G (p.Ala118=)
|
rs2181118
|
0.98355
|
NM_033109.5(PNPT1):c.1247+29C>T
|
rs782604
|
0.93874
|
NM_033109.5(PNPT1):c.867-47T>A
|
rs782631
|
0.92991
|
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)
|
rs324136
|
0.89518
|
NM_020745.4(AARS2):c.*1359A>G
|
rs534416
|
0.87948
|
NM_020745.4(AARS2):c.2871A>G (p.Ser957=)
|
rs325008
|
0.87930
|
NM_020745.4(AARS2):c.*341G>A
|
rs4714775
|
0.87863
|
NM_020745.4(AARS2):c.*366T>C
|
rs325010
|
0.87836
|
NM_020745.4(AARS2):c.2683-20A>G
|
rs325007
|
0.87773
|
NM_020745.4(AARS2):c.*423G>A
|
rs325011
|
0.87741
|
NM_020745.4(AARS2):c.2598+117G>C
|
rs325005
|
0.87685
|
NM_001083614.2(EARS2):c.1369A>G (p.Ser457Gly)
|
rs6497671
|
0.84008
|
NM_001083614.2(EARS2):c.606C>G (p.Val202=)
|
rs2073951
|
0.83916
|
NM_001083614.2(EARS2):c.*12T>G
|
rs1468138
|
0.83903
|
NM_001083614.2(EARS2):c.*1594C>T
|
rs9707
|
0.82452
|
NM_001083614.2(EARS2):c.*1443C>G
|
rs6497669
|
0.81426
|
NM_024537.4(CARS2):c.987+292T>G
|
rs376834
|
0.81351
|
NM_012473.4(TXN2):c.387+30A>C
|
rs2281082
|
0.77835
|
NM_024537.4(CARS2):c.987+247T>C
|
rs2296658
|
0.77296
|
NM_024537.4(CARS2):c.852A>G (p.Glu284=)
|
rs4628819
|
0.77143
|
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)
|
rs10501429
|
0.76474
|
NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala)
|
rs3810206
|
0.73925
|
NM_001083614.2(EARS2):c.1352+25G>A
|
rs2072062
|
0.73904
|
NM_032620.4(GTPBP3):c.198A>C (p.Thr66=)
|
rs1864112
|
0.73888
|
NM_001083614.2(EARS2):c.264G>A (p.Ala88=)
|
rs7187920
|
0.72546
|
NM_001083614.2(EARS2):c.1068-5C>T
|
rs2072061
|
0.72406
|
NM_024678.6(NARS2):c.414T>C (p.Tyr138=)
|
rs10751296
|
0.71183
|
NM_020745.4(AARS2):c.2607G>A (p.Lys869=)
|
rs498512
|
0.67400
|
NM_015971.4(MRPS7):c.5C>T (p.Ala2Val)
|
rs8075276
|
0.67348
|
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=)
|
rs1043483
|
0.66272
|
NM_152269.5(MTRFR):c.*515T>G
|
rs1533703
|
0.64844
|
NM_152269.5(MTRFR):c.*198T>C
|
rs1969354
|
0.62265
|
NM_032620.4(GTPBP3):c.974+38G>A
|
rs4808623
|
0.62097
|
NM_024537.3(CARS2):c.-48C>T
|
rs3818496
|
0.59027
|
NM_024996.7(GFM1):c.*226C>T
|
rs1047366
|
0.58206
|
NM_024996.7(GFM1):c.643G>A (p.Val215Ile)
|
rs2303909
|
0.58201
|
NM_024996.7(GFM1):c.18T>C (p.Ala6=)
|
rs1864507
|
0.58169
|
NM_152269.5(MTRFR):c.*483G>A
|
rs1969355
|
0.57786
|
NM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met)
|
rs13874
|
0.57380
|
NM_001379210.1(SLC25A26):c.498+13G>A
|
rs332354
|
0.54714
|
NM_017909.4(RMND1):c.1002+47T>G
|
rs6912830
|
0.54650
|
NM_020442.6(VARS2):c.-28+82T>C
|
rs1264306
|
0.52561
|
NM_020442.6(VARS2):c.2186-10T>C
|
rs753725
|
0.50613
|
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg)
|
rs2249464
|
0.50569
|
NM_004208.4(AIFM1):c.273T>C (p.Asp91=)
|
rs1139851
|
0.50355
|
NM_020745.4(AARS2):c.243+6G>A
|
rs167772
|
0.50019
|
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)
|
rs2627765
|
0.48848
|
NM_213649.2(SFXN4):c.415-6C>T
|
rs2275111
|
0.48143
|
NM_213649.2(SFXN4):c.258A>G (p.Gln86=)
|
rs10749291
|
0.46610
|
NM_017646.6(TRIT1):c.33C>T (p.Pro11=)
|
rs3845570
|
0.45704
|
NM_033109.5(PNPT1):c.1074-19A>G
|
rs782637
|
0.45197
|
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val)
|
rs782572
|
0.44915
|
NM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn)
|
rs146159281
|
0.43643
|
NM_018292.5(QRSL1):c.381-47A>C
|
rs9486434
|
0.43311
|
NM_018292.5(QRSL1):c.1425G>A (p.Leu475=)
|
rs2015205
|
0.43247
|
NM_024996.7(GFM1):c.81+84C>G
|
rs1864505
|
0.42613
|
NM_024537.4(CARS2):c.1239T>C (p.Asp413=)
|
rs436462
|
0.42363
|
NM_024996.7(GFM1):c.*6C>T
|
rs1047355
|
0.42265
|
NM_017909.4(RMND1):c.689+17A>G
|
rs6904364
|
0.42255
|
NM_024996.7(GFM1):c.*691T>A
|
rs8650
|
0.42246
|
NM_024996.7(GFM1):c.690-87A>G
|
rs9810874
|
0.42203
|
NM_024996.7(GFM1):c.1083+82T>C
|
rs9884039
|
0.42175
|
NM_003321.5(TUFM):c.-55T>C
|
rs7187776
|
0.41063
|
NM_004564.3(GATB):c.176+7T>C
|
rs1429559
|
0.40922
|
NM_006567.5(FARS2):c.1217+40158C>T
|
rs4960122
|
0.40713
|
NM_024996.7(GFM1):c.1083+57C>T
|
rs62286656
|
0.36155
|
NM_024996.7(GFM1):c.81+22A>G
|
rs1864506
|
0.35797
|
NM_003321.5(TUFM):c.817+13T>C
|
rs4788099
|
0.34806
|
NM_003321.5(TUFM):c.922+29C>G
|
rs61737565
|
0.34806
|
NM_003321.5(TUFM):c.*300T>G
|
rs3088215
|
0.34801
|
NM_018127.7(ELAC2):c.1305-8T>C
|
rs3760316
|
0.32355
|
NM_006576.4(AVIL):c.1963-316C>T
|
rs10783847
|
0.29936
|
NM_006576.4(AVIL):c.1963-397C>T
|
rs10783848
|
0.29848
|
NM_213649.2(SFXN4):c.361-42C>T
|
rs2275112
|
0.29607
|
NM_025150.5(TARS2):c.1719-47C>T
|
rs3738487
|
0.29599
|
NM_213649.2(SFXN4):c.617-3C>T
|
rs17668734
|
0.28961
|
NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala)
|
rs2224391
|
0.28790
|
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu)
|
rs2074506
|
0.27888
|
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
NM_018127.7(ELAC2):c.297-11T>C
|
rs58809197
|
0.27292
|
NM_018127.7(ELAC2):c.1218+15C>T
|
rs55825263
|
0.26965
|
NM_018127.7(ELAC2):c.1304+17A>T
|
rs55674356
|
0.26960
|
NM_005726.6(TSFM):c.30T>C (p.Phe10=)
|
rs10747783
|
0.26055
|
NM_032620.4(GTPBP3):c.974+37G>C
|
rs11669718
|
0.24676
|
NM_003321.5(TUFM):c.248-18G>A
|
rs8061877
|
0.24423
|
NM_024537.4(CARS2):c.417C>T (p.Leu139=)
|
rs2304767
|
0.23275
|
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln)
|
rs9394021
|
0.22711
|
NM_020442.6(VARS2):c.1272C>T (p.Ser424=)
|
rs2285319
|
0.22709
|
NM_013337.4(TIMM22):c.508+45A>G
|
rs12941159
|
0.22287
|
NM_005932.4(MIPEP):c.1970+20A>C
|
rs11620036
|
0.20535
|
NM_012123.4(MTO1):c.1180T>C (p.Leu394=)
|
rs2036039
|
0.20359
|
NM_020745.4(AARS2):c.*1300C>T
|
rs1123523
|
0.18616
|
NM_024996.7(GFM1):c.689+891C>T
|
rs56167308
|
0.17770
|
NM_024996.7(GFM1):c.-33C>T
|
rs28372852
|
0.17766
|
NM_020745.4(AARS2):c.*1576A>G
|
rs1056092
|
0.17434
|
NM_024996.7(GFM1):c.1323+83A>G
|
rs2291595
|
0.15507
|
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro)
|
rs1043886
|
0.10889
|
NM_024996.7(GFM1):c.1323+72A>G
|
rs2291594
|
0.10832
|
NM_023936.2(MRPS34):c.97C>A (p.Leu33Ile)
|
rs11552431
|
0.10486
|
NM_017909.4(RMND1):c.125G>T (p.Ser42Ile)
|
rs11550103
|
0.09721
|
NM_001136193.2(FASTKD2):c.1898+26G>A
|
rs76270461
|
0.08765
|
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=)
|
rs17552022
|
0.08581
|
NM_018127.7(ELAC2):c.491-14T>C
|
rs74556312
|
0.08556
|
NM_001083614.2(EARS2):c.*2156T>G
|
rs13334957
|
0.08431
|
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe)
|
rs72661692
|
0.07201
|
NM_001083614.2(EARS2):c.1488+34G>A
|
rs75133940
|
0.06846
|
NM_145691.4(ATPAF2):c.*165C>T
|
rs34673242
|
0.06601
|
NM_152269.5(MTRFR):c.273C>T (p.Ile91=)
|
rs2280424
|
0.04534
|
NM_012123.4(MTO1):c.1918-7T>G
|
rs73452515
|
0.04248
|
NM_020745.4(AARS2):c.1753-14C>G
|
rs74950428
|
0.03853
|
NM_018127.7(ELAC2):c.798-20G>T
|
rs77528900
|
0.03735
|
NM_004208.4(AIFM1):c.918C>T (p.Ile306=)
|
rs12014115
|
0.03205
|
NM_020745.4(AARS2):c.2188G>A (p.Val730Met)
|
rs35623954
|
0.03189
|
NM_004208.4(AIFM1):c.996A>G (p.Gln332=)
|
rs12007545
|
0.03061
|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
NM_003321.5(TUFM):c.198C>T (p.Ile66=)
|
rs11542257
|
0.02831
|
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)
|
rs33997182
|
0.02668
|
NM_003321.5(TUFM):c.*24C>T
|
rs8754
|
0.02648
|
NM_024996.7(GFM1):c.*713C>T
|
rs16829307
|
0.02621
|
NM_006567.5(FARS2):c.339C>T (p.Tyr113=)
|
rs41302853
|
0.02609
|
NM_001083614.2(EARS2):c.984G>A (p.Pro328=)
|
rs77939239
|
0.02510
|
NM_001083614.2(EARS2):c.*400A>G
|
rs78770424
|
0.02484
|
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=)
|
rs7217826
|
0.02093
|
NM_001379210.1(SLC25A26):c.*3C>A
|
rs116677829
|
0.02088
|
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu)
|
rs73866065
|
0.01879
|
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln)
|
rs35967387
|
0.01853
|
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)
|
rs78651634
|
0.01784
|
NM_020745.4(AARS2):c.2548A>G (p.Met850Val)
|
rs35783144
|
0.01782
|
NM_017646.6(TRIT1):c.1098C>T (p.Ile366=)
|
rs16826617
|
0.01691
|
NM_020745.4(AARS2):c.420G>A (p.Gly140=)
|
rs75506489
|
0.01671
|
NM_020745.4(AARS2):c.2440G>A (p.Val814Met)
|
rs111325758
|
0.01670
|
NM_020745.4(AARS2):c.1753-13T>C
|
rs80339975
|
0.01667
|
NM_024996.7(GFM1):c.-11C>T
|
rs112860155
|
0.01649
|
NM_024537.4(CARS2):c.647G>A (p.Gly216Glu)
|
rs146773721
|
0.01595
|
NM_001136193.2(FASTKD2):c.*9T>C
|
rs10194665
|
0.01553
|
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)
|
rs62288347
|
0.01504
|
NM_001083614.2(EARS2):c.*1498A>G
|
rs113477773
|
0.01470
|
NM_001083614.2(EARS2):c.*1388C>T
|
rs11864511
|
0.01468
|
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=)
|
rs77972324
|
0.01451
|
NM_005726.6(TSFM):c.754G>A (p.Val252Ile)
|
rs114694283
|
0.01391
|
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)
|
rs34297061
|
0.01346
|
NM_001136193.2(FASTKD2):c.1254+9A>C
|
rs10177169
|
0.01315
|
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys)
|
rs79081036
|
0.01302
|
NM_024996.7(GFM1):c.1601+9G>C
|
rs77186707
|
0.01234
|
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)
|
rs115815965
|
0.01205
|
NM_001083614.2(EARS2):c.*2294T>C
|
rs8046938
|
0.01163
|
NM_001083614.2(EARS2):c.*715G>A
|
rs74014930
|
0.01133
|
NM_020745.4(AARS2):c.*343G>A
|
rs149050034
|
0.01086
|
NM_020745.4(AARS2):c.*1719T>C
|
rs79454687
|
0.01085
|
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser)
|
rs113433939
|
0.01077
|
NM_001083614.2(EARS2):c.*755C>T
|
rs11647557
|
0.01076
|
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)
|
rs34530313
|
0.01004
|
NM_024996.7(GFM1):c.1083+6T>G
|
rs142919829
|
0.00965
|
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr)
|
rs137973249
|
0.00954
|
NM_020745.4(AARS2):c.749+14G>A
|
rs74709196
|
0.00947
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
NM_024996.7(GFM1):c.1209C>T (p.Ala403=)
|
rs149949638
|
0.00899
|
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)
|
rs35302908
|
0.00884
|
NM_017909.4(RMND1):c.783C>T (p.Ile261=)
|
rs17081207
|
0.00841
|
NM_006567.5(FARS2):c.102G>A (p.Ser34=)
|
rs113155624
|
0.00836
|
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys)
|
rs34382405
|
0.00823
|
NM_006576.4(AVIL):c.*341G>C
|
rs57561819
|
0.00812
|
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp)
|
rs112247130
|
0.00812
|
NM_001083614.2(EARS2):c.*1362T>C
|
rs7342735
|
0.00796
|
NM_001083614.2(EARS2):c.*1099A>G
|
rs74014928
|
0.00787
|
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=)
|
rs140335642
|
0.00771
|
NM_024996.7(GFM1):c.-31A>G
|
rs28372853
|
0.00742
|
NM_024537.4(CARS2):c.1624-12C>G
|
rs115116722
|
0.00724
|
NM_006576.4(AVIL):c.*302C>G
|
rs114214463
|
0.00703
|
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)
|
rs62000432
|
0.00702
|
NM_005726.6(TSFM):c.5C>T (p.Ser2Leu)
|
rs35957924
|
0.00698
|
NM_024996.7(GFM1):c.*766G>T
|
rs114751518
|
0.00689
|
NM_020745.4(AARS2):c.*926C>T
|
rs76458008
|
0.00663
|
NM_018127.7(ELAC2):c.368-4T>A
|
rs139778647
|
0.00657
|
NM_020745.4(AARS2):c.1752G>A (p.Glu584=)
|
rs78525157
|
0.00653
|
NM_001083614.2(EARS2):c.402C>T (p.Thr134=)
|
rs116657756
|
0.00624
|
NM_020745.4(AARS2):c.2007+8C>T
|
rs150125794
|
0.00599
|
NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu)
|
rs188068027
|
0.00590
|
NM_024537.4(CARS2):c.1317+10C>T
|
rs141996297
|
0.00555
|
NM_004208.4(AIFM1):c.1833T>C (p.His611=)
|
rs73556209
|
0.00551
|
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)
|
rs62073570
|
0.00522
|
NM_145691.4(ATPAF2):c.*20C>G
|
rs1128069
|
0.00519
|
NM_018127.7(ELAC2):c.1305-9_1305-8insCTC
|
rs370493014
|
0.00515
|
NM_145691.4(ATPAF2):c.-147G>A
|
rs75249497
|
0.00513
|
NM_024996.7(GFM1):c.568A>C (p.Met190Leu)
|
rs75450876
|
0.00510
|
NM_012123.4(MTO1):c.1894C>T (p.Leu632=)
|
rs117757245
|
0.00506
|
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)
|
rs61730896
|
0.00489
|
NM_145691.4(ATPAF2):c.*456T>C
|
rs77980072
|
0.00488
|
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly)
|
rs113722817
|
0.00485
|
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)
|
rs116567033
|
0.00455
|
NM_012123.4(MTO1):c.1368T>C (p.Thr456=)
|
rs115654622
|
0.00454
|
NM_024537.4(CARS2):c.1054+8G>A
|
rs374859
|
0.00434
|
NM_024537.4(CARS2):c.1417-17C>T
|
rs113709957
|
0.00417
|
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)
|
rs114754676
|
0.00399
|
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala)
|
rs141544058
|
0.00387
|
NM_024537.4(CARS2):c.1489G>A (p.Val497Ile)
|
rs146355429
|
0.00386
|
NM_006567.5(FARS2):c.468G>A (p.Thr156=)
|
rs73718083
|
0.00382
|
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg)
|
rs534818713
|
0.00328
|
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met)
|
rs147329295
|
0.00309
|
NM_024537.4(CARS2):c.1128C>T (p.Asp376=)
|
rs142070578
|
0.00308
|
NM_145691.4(ATPAF2):c.*130T>C
|
rs117739515
|
0.00300
|
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly)
|
rs34607655
|
0.00291
|
NM_018127.7(ELAC2):c.560-2A>G
|
rs149733287
|
0.00275
|
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=)
|
rs141324245
|
0.00268
|
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg)
|
rs149578279
|
0.00256
|
NM_024537.4(CARS2):c.930C>T (p.His310=)
|
rs143532600
|
0.00232
|
NM_018127.7(ELAC2):c.174G>A (p.Val58=)
|
rs2286334
|
0.00196
|
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)
|
rs61730898
|
0.00188
|
NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu)
|
rs149036879
|
0.00167
|
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr)
|
rs147216443
|
0.00166
|
NM_024537.4(CARS2):c.1318-12G>A
|
rs191969046
|
0.00161
|
NM_006567.5(FARS2):c.183C>T (p.Asp61=)
|
rs73718082
|
0.00156
|
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)
|
rs119484087
|
0.00156
|
NM_006567.5(FARS2):c.606G>A (p.Lys202=)
|
rs17851782
|
0.00128
|
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)
|
rs143792929
|
0.00121
|
NM_003321.5(TUFM):c.520-8A>T
|
rs145900455
|
0.00116
|
NM_004208.4(AIFM1):c.606-15C>T
|
rs191297808
|
0.00109
|
NM_004208.4(AIFM1):c.-165G>A
|
rs759015293
|
0.00092
|
NM_152269.5(MTRFR):c.468A>G (p.Lys156=)
|
rs147972301
|
0.00088
|
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn)
|
rs140082252
|
0.00087
|
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala)
|
rs201279883
|
0.00085
|
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)
|
rs140411575
|
0.00081
|
NM_024996.7(GFM1):c.*731C>T
|
rs189114088
|
0.00074
|
NM_001083614.2(EARS2):c.*1233C>T
|
rs118168979
|
0.00072
|
NM_004208.4(AIFM1):c.72C>T (p.Cys24=)
|
rs373609902
|
0.00051
|
NM_024537.4(CARS2):c.564G>A (p.Thr188=)
|
rs76988055
|
0.00049
|
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg)
|
rs544551424
|
0.00047
|
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=)
|
rs117582762
|
0.00041
|
NM_001083614.2(EARS2):c.580G>A (p.Val194Met)
|
rs76634881
|
0.00040
|
NM_018127.7(ELAC2):c.9G>C (p.Ala3=)
|
rs764509473
|
0.00036
|
NM_006567.5(FARS2):c.462G>T (p.Ala154=)
|
rs150477330
|
0.00035
|
NM_012123.4(MTO1):c.1637+16A>G
|
rs201990339
|
0.00034
|
NM_024537.4(CARS2):c.1308G>A (p.Ala436=)
|
rs141349632
|
0.00027
|
NM_004208.4(AIFM1):c.262A>G (p.Met88Val)
|
rs750098055
|
0.00023
|
NM_006567.5(FARS2):c.873C>T (p.Cys291=)
|
rs372301183
|
0.00013
|
NM_006567.5(FARS2):c.1014C>T (p.Arg338=)
|
rs41302855
|
0.00012
|
NM_024537.4(CARS2):c.1059C>T (p.Ile353=)
|
rs200079151
|
0.00009
|
NM_004208.4(AIFM1):c.968-14T>A
|
rs201991839
|
0.00008
|
NM_006567.5(FARS2):c.288C>T (p.His96=)
|
rs201410497
|
0.00006
|
NM_006567.5(FARS2):c.819T>A (p.Pro273=)
|
rs201042275
|
0.00006
|
NM_006567.5(FARS2):c.768A>C (p.Gly256=)
|
rs200003967
|
0.00004
|
NM_018127.7(ELAC2):c.1424-16A>G
|
rs149112672
|
0.00004
|
NM_018127.7(ELAC2):c.2108+14G>A
|
rs199942266
|
0.00004
|
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala)
|
rs149210630
|
0.00003
|
NM_018127.7(ELAC2):c.679+9A>G
|
rs756430924
|
0.00003
|
NM_152269.5(MTRFR):c.309G>A (p.Gln103=)
|
rs573747271
|
0.00003
|
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg)
|
rs574200635
|
0.00002
|
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg)
|
rs536180346
|
0.00001
|
NM_001083614.2(EARS2):c.*380_*384del
|
rs3071379
|
|
NM_001083614.2(EARS2):c.*535del
|
rs11300207
|
|
NM_004208.4(AIFM1):c.597A>G (p.Lys199=)
|
rs143670174
|
|
NM_004564.3(GATB):c.1198-6del
|
rs11292952
|
|
NM_006567.5(FARS2):c.462G>A (p.Ala154=)
|
rs150477330
|
|
NM_006567.5(FARS2):c.829A>G (p.Met277Val)
|
|
|
NM_006567.5(FARS2):c.835A>G (p.Ile279Val)
|
|
|
NM_006567.5(FARS2):c.839A>C (p.Asn280Thr)
|
rs11243011
|
|
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser)
|
rs11243011
|
|
NM_006567.5(FARS2):c.846T>A (p.His282Gln)
|
rs764139130
|
|
NM_012123.4(MTO1):c.1059A>G (p.Leu353=)
|
rs201656868
|
|
NM_012123.4(MTO1):c.1785A>G (p.Gln595=)
|
rs147990749
|
|
NM_012123.4(MTO1):c.1917+17_1917+19del
|
rs760158320
|
|
NM_012123.4(MTO1):c.938+7=
|
rs7766570
|
|
NM_015971.4(MRPS7):c.83+23C>G
|
rs62085969
|
|
NM_015971.4(MRPS7):c.83+23_83+24del
|
rs36039201
|
|
NM_018127.7(ELAC2):c.1305-6dup
|
rs200410915
|
|
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC
|
rs201830045
|
|
NM_018127.7(ELAC2):c.1305-8delinsCTCTC
|
rs1064794813
|
|
NM_018127.7(ELAC2):c.1424-6del
|
rs2040589080
|
|
NM_018127.7(ELAC2):c.1424-6dup
|
|
|
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=)
|
rs11545302
|
|
NM_018127.7(ELAC2):c.1699-8dup
|
rs878855049
|
|
NM_018127.7(ELAC2):c.1808+26G>C
|
rs2286338
|
|
NM_018127.7(ELAC2):c.1809-5del
|
|
|
NM_018127.7(ELAC2):c.797+14del
|
rs748817791
|
|
NM_018292.5(QRSL1):c.557+49_557+50del
|
rs3040665
|
|
NM_020442.6(VARS2):c.574-42_574-35del
|
rs57637932
|
|
NM_020745.4(AARS2):c.*1284del
|
rs35562884
|
|
NM_020745.4(AARS2):c.*1473G>T
|
rs116579451
|
|
NM_020745.4(AARS2):c.*1635_*1636insAA
|
rs34687863
|
|
NM_020745.4(AARS2):c.*1710G>T
|
rs1056093
|
|
NM_020745.4(AARS2):c.*555_*556insATAAA
|
rs111990690
|
|
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT
|
rs112092257
|
|
NM_020745.4(AARS2):c.1041-29A>G
|
rs7740535
|
|
NM_020745.4(AARS2):c.2255+35C>A
|
rs325002
|
|
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA
|
rs10627820
|
|
NM_024537.4(CARS2):c.1417-57dup
|
rs11414164
|
|
NM_024537.4(CARS2):c.394-13A>C
|
rs575543110
|
|
NM_024537.4(CARS2):c.572-3_572-2del
|
rs201758363
|
|
NM_024537.4(CARS2):c.920-8del
|
rs2139748776
|
|
NM_024996.7(GFM1):c.1519-25A>G
|
rs7628497
|
|
NM_033109.5(PNPT1):c.*11dup
|
rs35916020
|
|