ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4186
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HGVS dbSNP gnomAD frequency
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_001083614.2(EARS2):c.*535dup rs11300207 0.15238
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.*354G>A rs11057214 0.05128
NM_152269.5(MTRFR):c.*454A>C rs76029248 0.04557
NM_152269.5(MTRFR):c.*128C>A rs11554169 0.04556
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_003321.4(TUFM):c.-132G>A rs112029765 0.02019
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_024996.7(GFM1):c.*483_*484insTA rs10662631 0.01750
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_022915.5(MRPL44):c.827+18C>T rs58911111 0.01453
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_001083614.2(EARS2):c.*1327A>G rs72776116 0.01372
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_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836 0.01018
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_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
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_032380.5(GFM2):c.43A>G (p.Ile15Val) rs79992455 0.00818
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_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020745.4(AARS2):c.750-5G>A rs78410483 0.00739
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_024996.7(GFM1):c.2071-17A>G rs76679758 0.00671
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_012473.4(TXN2):c.294G>A (p.Pro98=) rs150502647 0.00588
NM_024996.7(GFM1):c.*539C>T rs75254073 0.00563
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_005035.4(POLRMT):c.3165C>T (p.Thr1055=) rs149476145 0.00500
NM_020745.4(AARS2):c.*718C>A rs140359685 0.00491
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_001083614.2(EARS2):c.*555G>A rs190982783 0.00465
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_013337.4(TIMM22):c.97G>C (p.Val33Leu) rs149879547 0.00440
NM_003321.5(TUFM):c.*561A>T rs184878749 0.00435
NM_024537.4(CARS2):c.1054+8G>A rs374859 0.00434
NM_003321.5(TUFM):c.684+6C>T rs188421321 0.00419
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_005035.4(POLRMT):c.178G>A (p.Val60Met) rs139758373 0.00386
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_001083614.2(EARS2):c.*458C>T rs145856944 0.00379
NM_152269.5(MTRFR):c.*809A>C rs148902117 0.00373
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 0.00357
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln) rs150973108 0.00340
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg) rs534818713 0.00328
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn) rs139383492 0.00323
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu) rs138712673 0.00308
NM_024537.4(CARS2):c.1128C>T (p.Asp376=) rs142070578 0.00308
NM_145691.4(ATPAF2):c.*130T>C rs117739515 0.00300
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_005726.6(TSFM):c.232-19T>G rs112348190 0.00291
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly) rs34607655 0.00291
NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp) rs144536804 0.00281
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_012123.4(MTO1):c.1051A>G (p.Met351Val) rs144075994 0.00261
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_012123.4(MTO1):c.620C>T (p.Thr207Met) rs139334277 0.00255
NM_020745.4(AARS2):c.1398C>T (p.Ser466=) rs146711725 0.00249
NM_024537.4(CARS2):c.930C>T (p.His310=) rs143532600 0.00232
NM_020745.4(AARS2):c.*1007A>G rs538721769 0.00229
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_005726.6(TSFM):c.24C>T (p.Arg8=) rs138461986 0.00209
NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser) rs146326033 0.00200
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_020810.3(TRMT5):c.70A>G (p.Ile24Val) rs115407315 0.00199
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_005726.6(TSFM):c.*291T>C rs191666277 0.00192
NM_001083614.2(EARS2):c.*1138G>A rs10239 0.00188
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) rs147091256 0.00185
NM_020745.4(AARS2):c.*394C>A rs545769603 0.00183
NM_020745.4(AARS2):c.*997G>T rs146753959 0.00181
NM_001083614.2(EARS2):c.1317G>A (p.Ser439=) rs74014932 0.00173
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_001083614.2(EARS2):c.813C>T (p.Phe271=) rs149664520 0.00162
NM_024537.4(CARS2):c.1318-12G>A rs191969046 0.00161
NM_005726.6(TSFM):c.797T>A (p.Leu266His) rs146777264 0.00160
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile) rs76148008 0.00160
NM_003321.5(TUFM):c.520-13C>G rs115691896 0.00158
NM_020745.4(AARS2):c.*982G>A rs192274662 0.00158
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_020745.4(AARS2):c.*448G>T rs565803591 0.00157
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_001136193.2(FASTKD2):c.777+18T>C rs200187845 0.00155
NM_012123.4(MTO1):c.1549G>A (p.Val517Met) rs139608228 0.00155
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser) rs140377587 0.00155
NM_001083614.2(EARS2):c.*91C>T rs141499212 0.00148
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup) rs1555571246 0.00144
NM_020745.4(AARS2):c.*256A>G rs182434401 0.00144
NM_001083614.2(EARS2):c.*914T>A rs185800148 0.00142
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_003321.4(TUFM):c.-128G>C rs555362028 0.00129
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) rs138855624 0.00129
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_024996.7(GFM1):c.*950C>T rs372706819 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_005035.4(POLRMT):c.2428C>T (p.Pro810Ser) rs201364510 0.00119
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) rs201929423 0.00118
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457 0.00118
NM_024996.7(GFM1):c.*1004T>C rs190120734 0.00117
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116
NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp) rs150308123 0.00111
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val) rs76401964 0.00111
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 0.00108
NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu) rs140077535 0.00104
NM_005726.6(TSFM):c.*210G>A rs112956536 0.00103
NM_145691.4(ATPAF2):c.*132C>T rs765325833 0.00102
NM_024996.7(GFM1):c.2070+11T>G rs150000838 0.00100
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_004208.4(AIFM1):c.-165G>A rs759015293 0.00092
NM_017909.4(RMND1):c.1085G>A (p.Arg362His) rs142588921 0.00091
NM_001083614.2(EARS2):c.*2309G>A rs368686039 0.00090
NM_152269.5(MTRFR):c.468A>G (p.Lys156=) rs147972301 0.00088
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys) rs142094090 0.00087
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala) rs79962181 0.00087
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn) rs140082252 0.00087
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_012123.4(MTO1):c.1082T>C (p.Met361Thr) rs145658455 0.00086
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp) rs143473050 0.00086
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) rs201279883 0.00085
NM_020745.4(AARS2):c.*627G>A rs539810987 0.00085
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr) rs141789665 0.00084
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) rs150286306 0.00081
NM_024996.7(GFM1):c.667A>G (p.Ile223Val) rs143446452 0.00081
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_004208.4(AIFM1):c.-185G>A rs770317876 0.00080
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro) rs150167906 0.00080
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_024537.4(CARS2):c.122C>T (p.Ala41Val) rs371950209 0.00077
NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr) rs367730807 0.00074
NM_024996.7(GFM1):c.*731C>T rs189114088 0.00074
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_020745.4(AARS2):c.2598+11G>A rs376223052 0.00073
NM_001083614.2(EARS2):c.*1233C>T rs118168979 0.00072
NM_003321.5(TUFM):c.1120G>A (p.Val374Met) rs114590091 0.00071
NM_017909.4(RMND1):c.1167G>A (p.Thr389=) rs116201484 0.00071
NM_020191.4(MRPS22):c.327A>G (p.Ala109=) rs138148950 0.00071
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_024678.6(NARS2):c.640C>A (p.Pro214Thr) rs140016209 0.00069
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu) rs147932653 0.00066
NM_005932.4(MIPEP):c.1728+7A>G rs186873433 0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_003321.5(TUFM):c.622G>A (p.Glu208Lys) rs143189885 0.00062
NM_152269.5(MTRFR):c.-51C>T rs115161149 0.00062
NM_001083614.2(EARS2):c.*1647C>T rs139837269 0.00061
NM_024537.4(CARS2):c.465+14C>T rs41315944 0.00061
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_017909.4(RMND1):c.795C>G (p.His265Gln) rs150706976 0.00060
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) rs146924860 0.00060
NM_024537.4(CARS2):c.1538G>A (p.Arg513Gln) rs138022576 0.00060
NM_019116.1(UBFD1):c.307G>C (p.Ala103Pro) rs371224231 0.00058
NM_020810.3(TRMT5):c.-2G>A rs147780353 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln) rs144150548 0.00058
NM_006567.5(FARS2):c.1128C>T (p.Tyr376=) rs139204875 0.00057
NM_024996.7(GFM1):c.1324-15T>A rs375168014 0.00057
NM_145691.4(ATPAF2):c.*485G>A rs147889525 0.00056
NM_024537.4(CARS2):c.244G>A (p.Val82Ile) rs117788141 0.00055
NM_001083614.2(EARS2):c.*917C>T rs756961049 0.00054
NM_024996.7(GFM1):c.235-14G>A rs201304690 0.00053
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys) rs142073519 0.00052
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_003321.5(TUFM):c.*445G>A rs542944452 0.00051
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) rs145988159 0.00049
NM_024537.4(CARS2):c.564G>A (p.Thr188=) rs76988055 0.00049
NM_001083614.2(EARS2):c.*1902A>C rs534093776 0.00048
NM_001083614.2(EARS2):c.*637A>G rs780830616 0.00048
NM_003321.4(TUFM):c.-81G>C rs573249163 0.00048
NM_003321.5(TUFM):c.558T>C (p.Ala186=) rs141728293 0.00047
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_001083614.2(EARS2):c.*966G>C rs151312469 0.00046
NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr) rs138415849 0.00046
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_018127.7(ELAC2):c.159C>T (p.Gly53=) rs200251607 0.00045
NM_018127.7(ELAC2):c.1218+16G>A rs201351764 0.00044
NM_020745.4(AARS2):c.533C>T (p.Ala178Val) rs200343365 0.00043
NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer) rs762191692 0.00043
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) rs374173311 0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_005726.6(TSFM):c.688G>T (p.Val230Leu) rs151248026 0.00041
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) rs143408155 0.00041
NM_024537.4(CARS2):c.1287C>T (p.His429=) rs143945861 0.00041
NM_001083614.2(EARS2):c.580G>A (p.Val194Met) rs76634881 0.00040
NM_145691.4(ATPAF2):c.-90C>A rs113286105 0.00040
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) rs143241583 0.00040
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_006567.5(FARS2):c.267C>G (p.Ile89Met) rs143959504 0.00038
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_024996.7(GFM1):c.-38C>T rs377352238 0.00037
NM_018127.7(ELAC2):c.9G>C (p.Ala3=) rs764509473 0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 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_018127.7(ELAC2):c.2376G>A (p.Ala792=) rs180717697 0.00034
NM_024537.4(CARS2):c.1318-18C>T rs185912329 0.00034
NM_024996.7(GFM1):c.2143A>G (p.Met715Val) rs147620098 0.00034
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) rs151097801 0.00033
NM_145691.4(ATPAF2):c.-85C>T rs533220549 0.00033
NM_018127.7(ELAC2):c.1659G>A (p.Thr553=) rs200420215 0.00032
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr) rs139684349 0.00031
NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met) rs114570574 0.00031
NM_024537.4(CARS2):c.571+11T>C rs373960867 0.00031
NM_152269.5(MTRFR):c.54G>A (p.Pro18=) rs188310109 0.00031
NM_005726.6(TSFM):c.814G>C (p.Asp272His) rs138911653 0.00030
NM_017866.5(TMEM70):c.-95C>T rs556447943 0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_001136193.2(FASTKD2):c.192T>C (p.Phe64=) rs150457139 0.00029
NM_003321.5(TUFM):c.759C>T (p.Pro253=) rs185379779 0.00029
NM_006567.5(FARS2):c.101C>T (p.Ser34Leu) rs148568494 0.00029
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) rs142843314 0.00029
NM_024996.7(GFM1):c.1494A>G (p.Glu498=) rs149454742 0.00029
NM_145691.4(ATPAF2):c.-107G>A rs371822840 0.00029
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_018127.7(ELAC2):c.1575C>T (p.Cys525=) rs140487151 0.00028
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu) rs376070793 0.00028
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_145691.4(ATPAF2):c.*138G>A rs760080344 0.00028
NM_001083614.2(EARS2):c.*1408A>G rs571312854 0.00027
NM_001083614.2(EARS2):c.*1808G>A rs557923021 0.00027
NM_007208.4(MRPL3):c.862T>C (p.Ser288Pro) rs143788120 0.00027
NM_017909.4(RMND1):c.852G>C (p.Arg284Ser) rs139955178 0.00027
NM_018127.7(ELAC2):c.1740C>T (p.Ala580=) rs148050183 0.00027
NM_020191.4(MRPS22):c.787C>T (p.Arg263Cys) rs147739245 0.00027
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) rs141349632 0.00027
NM_012123.4(MTO1):c.49A>G (p.Lys17Glu) rs145625396 0.00026
NM_018127.7(ELAC2):c.1390A>T (p.Arg464Trp) rs200149324 0.00026
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala) rs200086297 0.00026
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_005726.6(TSFM):c.644C>T (p.Ser215Phe) rs376562033 0.00025
NM_018127.7(ELAC2):c.367+7A>G rs113628680 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_024537.4(CARS2):c.1074C>T (p.Ser358=) rs143638615 0.00025
NM_152269.5(MTRFR):c.336A>G (p.Leu112=) rs138538426 0.00025
NM_003321.5(TUFM):c.427G>A (p.Gly143Ser) rs34283928 0.00024
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser) rs148259590 0.00024
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_145691.4(ATPAF2):c.*526C>T rs780010191 0.00024
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_006567.5(FARS2):c.509C>G (p.Ala170Gly) rs141568455 0.00023
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) rs141368418 0.00023
NM_024996.7(GFM1):c.373G>A (p.Val125Met) rs200923387 0.00023
NM_004208.4(AIFM1):c.-140C>G rs770737305 0.00022
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_012123.4(MTO1):c.1147G>A (p.Asp383Asn) rs145163085 0.00022
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=) rs201700166 0.00022
NM_022915.5(MRPL44):c.496G>A (p.Val166Met) rs141821599 0.00022
NM_024537.4(CARS2):c.1516G>A (p.Glu506Lys) rs368624802 0.00022
NM_001136193.2(FASTKD2):c.1693C>T (p.Leu565=) rs148971447 0.00021
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) rs202171981 0.00021
NM_020745.4(AARS2):c.2683-10C>T rs372088350 0.00021
NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln) rs200491395 0.00021
NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr) rs933296601 0.00021
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser) rs141020107 0.00021
NM_152269.5(MTRFR):c.283-19_283-16dup rs758700066 0.00021
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) rs150821143 0.00020
NM_005035.4(POLRMT):c.748C>G (p.His250Asp) rs137994680 0.00020
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) rs535877562 0.00020
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001083614.2(EARS2):c.873C>T (p.Asp291=) rs61742045 0.00019
NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=) rs377619612 0.00019
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) rs554931092 0.00019
NM_018127.7(ELAC2):c.195G>A (p.Ala65=) rs377291764 0.00019
NM_018127.7(ELAC2):c.739-18A>G rs376224310 0.00019
NM_020745.4(AARS2):c.*1811C>T rs546498237 0.00019
NM_020745.4(AARS2):c.*408G>C rs780339845 0.00019
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) rs143271585 0.00019
NM_020191.4(MRPS22):c.6G>A (p.Ala2=) rs144902770 0.00018
NM_152269.5(MTRFR):c.*211C>T rs749221383 0.00018
NM_006567.5(FARS2):c.323C>T (p.Pro108Leu) rs374957295 0.00017
NM_006567.5(FARS2):c.324G>A (p.Pro108=) rs139618748 0.00017
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys) rs374954001 0.00017
NM_024537.4(CARS2):c.1475G>A (p.Arg492Gln) rs564455691 0.00017
NM_032380.5(GFM2):c.1040T>C (p.Met347Thr) rs774464063 0.00017
NM_003321.5(TUFM):c.*229G>A rs558681318 0.00016
NM_005726.6(TSFM):c.*381C>T rs528226687 0.00016
NM_005726.6(TSFM):c.361-12T>G rs368313488 0.00016
NM_006567.5(FARS2):c.1069C>T (p.Leu357Phe) rs370983000 0.00016
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_012123.4(MTO1):c.1137T>C (p.Gly379=) rs141477592 0.00016
NM_012123.4(MTO1):c.1940C>T (p.Pro647Leu) rs151330992 0.00016
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val) rs767378629 0.00016
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00016
NM_018127.7(ELAC2):c.632G>A (p.Arg211Gln) rs148419785 0.00016
NM_020745.4(AARS2):c.*1473del rs766302064 0.00016
NM_024537.4(CARS2):c.741A>T (p.Gly247=) rs998783511 0.00016
NM_145691.4(ATPAF2):c.*250C>T rs141638018 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) rs373432793 0.00015
NM_003321.5(TUFM):c.6C>T (p.Thr2=) rs751421456 0.00015
NM_003321.5(TUFM):c.760G>A (p.Ala254Thr) rs138917503 0.00015
NM_006567.5(FARS2):c.1273C>T (p.Leu425=) rs143662929 0.00015
NM_018127.7(ELAC2):c.1304+13T>C rs777881145 0.00015
NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp) rs148448090 0.00015
NM_020745.4(AARS2):c.*1293A>G rs1054092802 0.00015
NM_023936.2(MRPS34):c.322-10G>A rs563189672 0.00015
NM_024537.4(CARS2):c.1141A>G (p.Met381Val) rs148857540 0.00015
NM_001083614.2(EARS2):c.*180A>G rs780381864 0.00014
NM_001136193.2(FASTKD2):c.1255-7T>C rs757255885 0.00014
NM_001136193.2(FASTKD2):c.872C>T (p.Thr291Met) rs138500508 0.00014
NM_001136193.2(FASTKD2):c.889G>A (p.Val297Ile) rs373041286 0.00014
NM_012123.4(MTO1):c.691G>C (p.Val231Leu) rs150037981 0.00014
NM_012123.4(MTO1):c.726A>G (p.Arg242=) rs754401804 0.00014
NM_018127.7(ELAC2):c.1080-8C>A rs201721293 0.00014
NM_018127.7(ELAC2):c.1283G>A (p.Arg428His) rs376713626 0.00014
NM_018127.7(ELAC2):c.1458T>C (p.Leu486=) rs150347734 0.00014
NM_018127.7(ELAC2):c.291G>A (p.Glu97=) rs748123262 0.00014
NM_018127.7(ELAC2):c.600A>G (p.Pro200=) rs142521572 0.00014
NM_020745.4(AARS2):c.1661G>A (p.Arg554His) rs139280416 0.00014
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val) rs376103315 0.00014
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) rs139974034 0.00014
NM_024537.4(CARS2):c.1566G>A (p.Leu522=) rs377120724 0.00014
NM_152269.5(MTRFR):c.112G>A (p.Val38Ile) rs146534475 0.00014
NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys) rs746838793 0.00013
NM_001136193.2(FASTKD2):c.207A>G (p.Gln69=) rs144137525 0.00013
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_018127.7(ELAC2):c.1319C>T (p.Thr440Ile) rs373125478 0.00013
NM_020745.4(AARS2):c.*753C>G rs751745102 0.00013
NM_020745.4(AARS2):c.2162T>C (p.Val721Ala) rs775065697 0.00013
NM_022915.5(MRPL44):c.791C>G (p.Thr264Ser) rs141166571 0.00013
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_024537.4(CARS2):c.466-18G>A rs370423607 0.00013
NM_024537.4(CARS2):c.628G>A (p.Val210Met) rs142962763 0.00013
NM_024537.4(CARS2):c.780C>T (p.Ile260=) rs145315422 0.00013
NM_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00012
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_020745.4(AARS2):c.*9C>T rs772455600 0.00012
NM_024537.4(CARS2):c.125G>C (p.Trp42Ser) rs779385700 0.00012
NM_024537.4(CARS2):c.393+15G>A rs368419708 0.00012
NM_024996.7(GFM1):c.*429C>T rs914802350 0.00012
NM_213649.2(SFXN4):c.677C>T (p.Ala226Val) rs151157939 0.00012
NM_001083614.2(EARS2):c.351A>G (p.Gln117=) rs375906347 0.00011
NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=) rs376045225 0.00011
NM_003321.5(TUFM):c.*398G>A rs560701501 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_006567.5(FARS2):c.920G>A (p.Arg307Gln) rs771882917 0.00011
NM_012123.4(MTO1):c.1667T>C (p.Val556Ala) rs185347132 0.00011
NM_012123.4(MTO1):c.868A>G (p.Arg290Gly) rs573039001 0.00011
NM_012123.4(MTO1):c.939-13T>C rs371809371 0.00011
NM_017909.4(RMND1):c.260G>A (p.Arg87His) rs142059662 0.00011
NM_017909.4(RMND1):c.690-20C>G rs770275231 0.00011
NM_018127.7(ELAC2):c.351T>C (p.Asn117=) rs146877290 0.00011
NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala) rs377463613 0.00011
NM_020191.4(MRPS22):c.652A>G (p.Met218Val) rs201627731 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_020442.6(VARS2):c.736T>C (p.Cys246Arg) rs140184279 0.00011
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_152269.5(MTRFR):c.*761G>A rs551684840 0.00011
NM_152269.5(MTRFR):c.120G>A (p.Pro40=) rs377142152 0.00011
NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) rs140452371 0.00011
NM_001083614.2(EARS2):c.1489-14C>T rs369770210 0.00010
NM_001083614.2(EARS2):c.164G>A (p.Arg55His) rs770862902 0.00010
NM_001083614.2(EARS2):c.558G>A (p.Ala186=) rs374363396 0.00010
NM_001136193.2(FASTKD2):c.2014-18T>C rs749657627 0.00010
NM_001136193.2(FASTKD2):c.882-1G>A rs767682048 0.00010
NM_001206427.2(ATP5MK):c.87+1G>C rs146599698 0.00010
NM_003321.5(TUFM):c.-44G>T rs781545296 0.00010
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) rs772308346 0.00010
NM_005726.6(TSFM):c.*412C>T rs184926061 0.00010
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys) rs779793214 0.00010
NM_006567.5(FARS2):c.781A>G (p.Ile261Val) rs201927340 0.00010
NM_012123.4(MTO1):c.1480G>A (p.Gly494Ser) rs139449947 0.00010
NM_012123.4(MTO1):c.1501T>C (p.Tyr501His) rs143378575 0.00010
NM_012123.4(MTO1):c.2011A>G (p.Met671Val) rs374410917 0.00010
NM_012123.4(MTO1):c.97C>T (p.Arg33Trp) rs769059204 0.00010
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00010
NM_018127.7(ELAC2):c.1423+13C>T rs552514338 0.00010
NM_018127.7(ELAC2):c.1955C>T (p.Ala652Val) rs761881914 0.00010
NM_020191.4(MRPS22):c.340-14T>A rs377459479 0.00010
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln) rs767441762 0.00010
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) rs766060435 0.00010
NM_024678.6(NARS2):c.847A>G (p.Thr283Ala) rs549442380 0.00010
NM_024996.7(GFM1):c.*1033A>G rs919876624 0.00010
NM_024996.7(GFM1):c.*578C>T rs758670778 0.00010
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr) rs368477064 0.00010
NM_152269.5(MTRFR):c.*143G>T rs886049042 0.00010
NM_152269.5(MTRFR):c.326G>A (p.Arg109Gln) rs147098739 0.00010
NM_001083614.2(EARS2):c.*1809T>C rs886051825 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001206427.2(ATP5MK):c.59A>G (p.Asn20Ser) rs140938014 0.00009
NM_003321.5(TUFM):c.*60T>G rs545220973 0.00009
NM_003321.5(TUFM):c.1195-3T>C rs376169369 0.00009
NM_003321.5(TUFM):c.619A>C (p.Thr207Pro) rs372069941 0.00009
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004208.4(AIFM1):c.366A>G (p.Glu122=) rs756883753 0.00009
NM_006567.5(FARS2):c.1013G>A (p.Arg338His) rs746837108 0.00009
NM_006567.5(FARS2):c.70T>A (p.Ser24Thr) rs573996374 0.00009
NM_017909.4(RMND1):c.614-18G>A rs764159292 0.00009
NM_018127.7(ELAC2):c.156C>T (p.Ser52=) rs375941310 0.00009
NM_018127.7(ELAC2):c.1705T>G (p.Leu569Val) rs375606970 0.00009
NM_020745.4(AARS2):c.*1706C>T rs767571924 0.00009
NM_020745.4(AARS2):c.435+9C>T rs199955037 0.00009
NM_020745.4(AARS2):c.679G>A (p.Asp227Asn) rs765016818 0.00009
NM_020745.4(AARS2):c.940G>A (p.Glu314Lys) rs546851135 0.00009
NM_024537.4(CARS2):c.1059C>T (p.Ile353=) rs200079151 0.00009
NM_024537.4(CARS2):c.1194-17C>G rs377292484 0.00009
NM_024537.4(CARS2):c.1592G>A (p.Arg531Gln) rs371876889 0.00009
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) rs774280744 0.00009
NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro) rs762821280 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_152269.5(MTRFR):c.32C>T (p.Thr11Ile) rs143410718 0.00009
NM_001083614.2(EARS2):c.*1027G>A rs932873198 0.00008
NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro) rs199871047 0.00008
NM_004208.4(AIFM1):c.968-14T>A rs201991839 0.00008
NM_005035.4(POLRMT):c.881C>T (p.Pro294Leu) rs566027653 0.00008
NM_005726.6(TSFM):c.*262T>A rs758314098 0.00008
NM_012123.4(MTO1):c.2006C>T (p.Ser669Leu) rs377512595 0.00008
NM_012123.4(MTO1):c.2044T>C (p.Cys682Arg) rs140592470 0.00008
NM_012123.4(MTO1):c.961A>G (p.Lys321Glu) rs148667065 0.00008
NM_016034.5(MRPS2):c.14C>T (p.Ser5Leu) rs770946612 0.00008
NM_018127.7(ELAC2):c.1304+15G>C rs373732738 0.00008
NM_018127.7(ELAC2):c.489G>A (p.Leu163=) rs767752385 0.00008
NM_018127.7(ELAC2):c.834C>T (p.Val278=) rs138869157 0.00008
NM_020191.4(MRPS22):c.799T>C (p.Tyr267His) rs762299963 0.00008
NM_020442.6(VARS2):c.1850C>T (p.Thr617Met) rs367837827 0.00008
NM_020745.4(AARS2):c.*1310T>C rs553722790 0.00008
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) rs758360552 0.00008
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser) rs777503937 0.00008
NM_024537.4(CARS2):c.446A>G (p.Gln149Arg) rs367861934 0.00008
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) rs147847472 0.00008
NM_025150.5(TARS2):c.49G>A (p.Ala17Thr) rs367864616 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_001083614.2(EARS2):c.246C>T (p.Arg82=) rs531061994 0.00007
NM_001136193.2(FASTKD2):c.2124C>T (p.Ser708=) rs200616436 0.00007
NM_001136193.2(FASTKD2):c.298G>T (p.Ala100Ser) rs773754189 0.00007
NM_003321.5(TUFM):c.810C>T (p.Ser270=) rs528294620 0.00007
NM_006567.5(FARS2):c.1209A>G (p.Val403=) rs147628137 0.00007
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 0.00007
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_012123.4(MTO1):c.418-6T>C rs752852300 0.00007
NM_012123.4(MTO1):c.992A>G (p.Gln331Arg) rs151280054 0.00007
NM_018127.7(ELAC2):c.1799A>G (p.His600Arg) rs764718787 0.00007
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr) rs762471494 0.00007
NM_018127.7(ELAC2):c.2404G>A (p.Gly802Ser) rs147779718 0.00007
NM_018127.7(ELAC2):c.666A>G (p.Pro222=) rs772199691 0.00007
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys) rs753324375 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_024537.4(CARS2):c.1195C>T (p.Leu399Phe) rs202176952 0.00007
NM_024537.4(CARS2):c.1503G>A (p.Ala501=) rs753425826 0.00007
NM_024537.4(CARS2):c.393+9A>G rs372649262 0.00007
NM_024537.4(CARS2):c.739G>A (p.Gly247Arg) rs372177940 0.00007
NM_024537.4(CARS2):c.753G>A (p.Pro251=) rs149601283 0.00007
NM_001083614.1(EARS2):c.-19G>A rs377067442 0.00006
NM_001083614.2(EARS2):c.1081C>T (p.Arg361Trp) rs761350541 0.00006
NM_001083614.2(EARS2):c.1488+15C>T rs201607271 0.00006
NM_001136193.2(FASTKD2):c.1115-10A>G rs747618392 0.00006
NM_001136193.2(FASTKD2):c.1219G>A (p.Val407Met) rs375608544 0.00006
NM_001136193.2(FASTKD2):c.1403A>G (p.His468Arg) rs772042470 0.00006
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu) rs150016888 0.00006
NM_001136193.2(FASTKD2):c.356C>T (p.Ser119Phe) rs149250098 0.00006
NM_003321.5(TUFM):c.*110A>G rs753564296 0.00006
NM_003321.5(TUFM):c.470A>G (p.Asn157Ser) rs201756974 0.00006
NM_003321.5(TUFM):c.684+8C>T rs117782882 0.00006
NM_004564.3(GATB):c.877+1G>A rs571950125 0.00006
NM_005035.4(POLRMT):c.2641-1G>C rs778201827 0.00006
NM_005726.6(TSFM):c.*176T>C rs765248918 0.00006
NM_005726.6(TSFM):c.140A>G (p.Lys47Arg) rs373659284 0.00006
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr) rs202147615 0.00006
NM_006567.5(FARS2):c.1220C>T (p.Thr407Met) rs372054960 0.00006
NM_006567.5(FARS2):c.288C>T (p.His96=) rs201410497 0.00006
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys) rs982485775 0.00006
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_006567.5(FARS2):c.621T>G (p.Ala207=) rs555096870 0.00006
NM_006567.5(FARS2):c.705C>T (p.Ala235=) rs766636921 0.00006
NM_006567.5(FARS2):c.775C>T (p.Leu259=) rs746201644 0.00006
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00006
NM_006567.5(FARS2):c.882G>C (p.Met294Ile) rs886256686 0.00006
NM_012123.4(MTO1):c.1281C>T (p.Asn427=) rs372077081 0.00006
NM_012123.4(MTO1):c.1918-11T>C rs760795915 0.00006
NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter) rs200217371 0.00006
NM_012123.4(MTO1):c.307A>G (p.Ile103Val) rs574980280 0.00006
NM_012123.4(MTO1):c.429G>A (p.Leu143=) rs763318672 0.00006
NM_012123.4(MTO1):c.547A>G (p.Thr183Ala) rs779108851 0.00006
NM_012123.4(MTO1):c.742A>G (p.Ile248Val) rs139801695 0.00006
NM_012123.4(MTO1):c.970C>T (p.Arg324Cys) rs759192206 0.00006
NM_012123.4(MTO1):c.983G>A (p.Arg328His) rs142148270 0.00006
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn) rs766087007 0.00006
NM_017909.4(RMND1):c.257C>T (p.Ala86Val) rs746842151 0.00006
NM_018127.7(ELAC2):c.1350G>A (p.Ala450=) rs375565327 0.00006
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser) rs1217149676 0.00006
NM_018127.7(ELAC2):c.1880C>T (p.Ser627Leu) rs78105154 0.00006
NM_018127.7(ELAC2):c.1908+5G>A rs753540327 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_018127.7(ELAC2):c.2151G>A (p.Ala717=) rs747104908 0.00006
NM_018127.7(ELAC2):c.700G>A (p.Val234Ile) rs142803912 0.00006
NM_018127.7(ELAC2):c.840C>T (p.Asp280=) rs369092504 0.00006
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu) rs771550822 0.00006
NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe) rs373031772 0.00006
NM_020191.4(MRPS22):c.172+7G>T rs777163637 0.00006
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg) rs201946203 0.00006
NM_020745.4(AARS2):c.*1471C>T rs996356800 0.00006
NM_020745.4(AARS2):c.1474T>C (p.Leu492=) rs141076788 0.00006
NM_020745.4(AARS2):c.1533C>T (p.Asp511=) rs372094957 0.00006
NM_020810.3(TRMT5):c.881A>C (p.Glu294Ala) rs2296928 0.00006
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln) rs200592030 0.00006
NM_024537.4(CARS2):c.1167C>T (p.Ser389=) rs41275134 0.00006
NM_024537.4(CARS2):c.1193+12G>A rs368032057 0.00006
NM_024537.4(CARS2):c.1259T>C (p.Val420Ala) rs146878400 0.00006
NM_024537.4(CARS2):c.136A>G (p.Thr46Ala) rs771202761 0.00006
NM_024537.4(CARS2):c.1505T>C (p.Leu502Pro) rs763717023 0.00006
NM_024537.4(CARS2):c.1524G>A (p.Thr508=) rs372410471 0.00006
NM_024537.4(CARS2):c.1579G>A (p.Asp527Asn) rs150780076 0.00006
NM_024537.4(CARS2):c.1589G>A (p.Arg530His) rs760818887 0.00006
NM_024537.4(CARS2):c.21C>T (p.Gly7=) rs938858276 0.00006
NM_024537.4(CARS2):c.288A>G (p.Arg96=) rs759533298 0.00006
NM_024537.4(CARS2):c.785+15G>A rs371196794 0.00006
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter) rs1057524183 0.00006
NM_024996.7(GFM1):c.*164C>A rs924668466 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_139242.4(MTFMT):c.419+3A>G rs182623063 0.00006
NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu) rs1052960618 0.00006
NM_152269.5(MTRFR):c.*439C>T rs1464561680 0.00006
NM_152269.5(MTRFR):c.*674A>G rs886049044 0.00006
NM_152269.5(MTRFR):c.325C>T (p.Arg109Trp) rs372252104 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_002949.4(MRPL12):c.542C>T (p.Ala181Val) rs577290119 0.00005
NM_006567.5(FARS2):c.202C>T (p.Arg68Trp) rs374531453 0.00005
NM_006567.5(FARS2):c.672T>C (p.Ser224=) rs773811639 0.00005
NM_006567.5(FARS2):c.696C>T (p.Thr232=) rs190712413 0.00005
NM_006567.5(FARS2):c.874G>A (p.Gly292Arg) rs747278433 0.00005
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369 0.00005
NM_006567.5(FARS2):c.954G>A (p.Arg318=) rs764877564 0.00005
NM_006567.5(FARS2):c.984T>C (p.Asp328=) rs201390927 0.00005
NM_006567.5(FARS2):c.989G>A (p.Arg330His) rs863223957 0.00005
NM_012123.4(MTO1):c.1031T>C (p.Ile344Thr) rs373659157 0.00005
NM_012123.4(MTO1):c.1306C>T (p.Pro436Ser) rs144134827 0.00005
NM_012123.4(MTO1):c.1334G>T (p.Gly445Val) rs202008685 0.00005
NM_012123.4(MTO1):c.520A>G (p.Ser174Gly) rs564804488 0.00005
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653 0.00005
NM_018127.7(ELAC2):c.1210C>T (p.Arg404Cys) rs543132773 0.00005
NM_018127.7(ELAC2):c.2221G>A (p.Glu741Lys) rs376277988 0.00005
NM_018127.7(ELAC2):c.2319C>T (p.Gly773=) rs550032568 0.00005
NM_018127.7(ELAC2):c.2403C>T (p.Gly801=) rs777147755 0.00005
NM_018127.7(ELAC2):c.560G>C (p.Ser187Thr) rs750475807 0.00005
NM_018127.7(ELAC2):c.715C>T (p.Leu239=) rs377338076 0.00005
NM_018127.7(ELAC2):c.738+17G>A rs761089421 0.00005
NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr) rs765353090 0.00005
NM_018127.7(ELAC2):c.983+9G>A rs760385942 0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_020745.4(AARS2):c.*1197C>T rs1009499618 0.00005
NM_020745.4(AARS2):c.*752G>C rs1027113180 0.00005
NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp) rs749519355 0.00005
NM_024537.4(CARS2):c.1013A>G (p.Asp338Gly) rs373398364 0.00005
NM_024537.4(CARS2):c.1266C>T (p.Ala422=) rs773655449 0.00005
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser) rs372734645 0.00005
NM_024537.4(CARS2):c.1590C>T (p.Arg530=) rs775479641 0.00005
NM_024537.4(CARS2):c.1608C>T (p.His536=) rs748996703 0.00005
NM_024537.4(CARS2):c.224+4G>A rs1225069963 0.00005
NM_024537.4(CARS2):c.37C>G (p.Pro13Ala) rs1044669719 0.00005
NM_024537.4(CARS2):c.465+16G>A rs371021982 0.00005
NM_024537.4(CARS2):c.657G>A (p.Ala219=) rs375938059 0.00005
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) rs201751992 0.00005
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) rs374335959 0.00005
NM_024996.7(GFM1):c.234+12C>T rs372189223 0.00005
NM_024996.7(GFM1):c.702A>G (p.Arg234=) rs377418512 0.00005
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) rs771890880 0.00005
NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys) rs373144265 0.00005
NM_001083614.2(EARS2):c.*1904A>G rs1196221265 0.00004
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) rs746087016 0.00004
NM_001136193.2(FASTKD2):c.1979G>A (p.Arg660Gln) rs780581465 0.00004
NM_001136193.2(FASTKD2):c.2071A>C (p.Thr691Pro) rs781656176 0.00004
NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys) rs750930063 0.00004
NM_003321.5(TUFM):c.35C>G (p.Ala12Gly) rs559685074 0.00004
NM_004046.6(ATP5F1A):c.295T>C (p.Ser99Pro) rs745896289 0.00004
NM_005726.6(TSFM):c.269G>A (p.Gly90Asp) rs371076990 0.00004
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688 0.00004
NM_005932.4(MIPEP):c.1090G>A (p.Val364Met) rs780905427 0.00004
NM_005932.4(MIPEP):c.1526G>A (p.Arg509His) rs369521380 0.00004
NM_006567.5(FARS2):c.1094A>G (p.Asn365Ser) rs373811519 0.00004
NM_006567.5(FARS2):c.1129G>A (p.Ala377Thr) rs145186610 0.00004
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_006567.5(FARS2):c.545A>G (p.Gln182Arg) rs543217289 0.00004
NM_006567.5(FARS2):c.674C>T (p.Ala225Val) rs745400923 0.00004
NM_006567.5(FARS2):c.675G>A (p.Ala225=) rs370034437 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00004
NM_006567.5(FARS2):c.837C>T (p.Ile279=) rs766146229 0.00004
NM_006567.5(FARS2):c.904G>T (p.Ala302Ser) rs375858088 0.00004
NM_012123.4(MTO1):c.1058T>C (p.Leu353Pro) rs373065217 0.00004
NM_012123.4(MTO1):c.1163G>A (p.Arg388His) rs947813456 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_012123.4(MTO1):c.1235C>T (p.Thr412Ile) rs943998709 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_012123.4(MTO1):c.1609A>G (p.Ile537Val) rs149727324 0.00004
NM_012123.4(MTO1):c.1696C>G (p.Pro566Ala) rs139647877 0.00004
NM_012123.4(MTO1):c.1846T>C (p.Tyr616His) rs751088619 0.00004
NM_012123.4(MTO1):c.1917+12G>A rs183977797 0.00004
NM_012123.4(MTO1):c.1917+17G>A rs372865741 0.00004
NM_012123.4(MTO1):c.1967A>G (p.Asn656Ser) rs759983774 0.00004
NM_012123.4(MTO1):c.253G>A (p.Gly85Arg) rs1054967842 0.00004
NM_012123.4(MTO1):c.552A>G (p.Val184=) rs746213747 0.00004
NM_012123.4(MTO1):c.593G>C (p.Arg198Thr) rs139496338 0.00004
NM_012123.4(MTO1):c.623A>G (p.His208Arg) rs560308812 0.00004
NM_012123.4(MTO1):c.78C>G (p.Ser26Arg) rs924867881 0.00004
NM_013337.4(TIMM22):c.75C>A (p.Tyr25Ter) rs754537066 0.00004
NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln) rs777185638 0.00004
NM_017646.6(TRIT1):c.1214T>C (p.Ile405Thr) rs776537579 0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_017909.4(RMND1):c.1077A>G (p.Leu359=) rs766598526 0.00004
NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys) rs755188314 0.00004
NM_017909.4(RMND1):c.526T>A (p.Phe176Ile) rs562882988 0.00004
NM_017909.4(RMND1):c.68G>A (p.Arg23Gln) rs377114459 0.00004
NM_018127.7(ELAC2):c.1098G>C (p.Gln366His) rs373534638 0.00004
NM_018127.7(ELAC2):c.1142G>A (p.Arg381His) rs756803645 0.00004
NM_018127.7(ELAC2):c.1378G>A (p.Val460Met) rs775449483 0.00004
NM_018127.7(ELAC2):c.1424-16A>G rs149112672 0.00004
NM_018127.7(ELAC2):c.1424-17C>T rs755064409 0.00004
NM_018127.7(ELAC2):c.152G>T (p.Cys51Phe) rs777786097 0.00004
NM_018127.7(ELAC2):c.1554G>A (p.Glu518=) rs377407616 0.00004
NM_018127.7(ELAC2):c.1992C>T (p.Ser664=) rs746289536 0.00004
NM_018127.7(ELAC2):c.2108+14G>A rs199942266 0.00004
NM_018127.7(ELAC2):c.2109-9C>T rs770917844 0.00004
NM_018127.7(ELAC2):c.2275A>G (p.Thr759Ala) rs199998904 0.00004
NM_018127.7(ELAC2):c.240C>T (p.Phe80=) rs764484752 0.00004
NM_018127.7(ELAC2):c.2457G>A (p.Gln819=) rs773456696 0.00004
NM_018127.7(ELAC2):c.296+9G>A rs1472556568 0.00004
NM_018127.7(ELAC2):c.311G>A (p.Arg104His) rs201871417 0.00004
NM_018127.7(ELAC2):c.319A>G (p.Asn107Asp) rs781676615 0.00004
NM_018127.7(ELAC2):c.369A>G (p.Gly123=) rs143942145 0.00004
NM_018127.7(ELAC2):c.387G>A (p.Lys129=) rs367828554 0.00004
NM_018127.7(ELAC2):c.871-20G>A rs766710377 0.00004
NM_020442.6(VARS2):c.142C>G (p.Gln48Glu) rs750590170 0.00004
NM_020442.6(VARS2):c.2038-1G>A rs769768815 0.00004
NM_020442.6(VARS2):c.2501G>A (p.Arg834His) rs747564856 0.00004
NM_020745.4(AARS2):c.60C>T (p.Pro20=) rs781361302 0.00004
NM_024537.4(CARS2):c.1011C>T (p.Pro337=) rs142857490 0.00004
NM_024537.4(CARS2):c.1054+16G>A rs772521220 0.00004
NM_024537.4(CARS2):c.1194-3C>T rs372760421 0.00004
NM_024537.4(CARS2):c.1317+11G>A rs757028283 0.00004
NM_024537.4(CARS2):c.1407A>C (p.Ala469=) rs780686611 0.00004
NM_024537.4(CARS2):c.1417-11G>A rs764789216 0.00004
NM_024537.4(CARS2):c.1417-16G>A rs375781277 0.00004
NM_024537.4(CARS2):c.1417-19C>T rs371859424 0.00004
NM_024537.4(CARS2):c.1515C>T (p.Pro505=) rs763434479 0.00004
NM_024537.4(CARS2):c.1646C>T (p.Thr549Met) rs371625448 0.00004
NM_024537.4(CARS2):c.1647G>A (p.Thr549=) rs201728933 0.00004
NM_024537.4(CARS2):c.170G>C (p.Ser57Thr) rs896892259 0.00004
NM_024537.4(CARS2):c.404C>T (p.Ser135Phe) rs781364169 0.00004
NM_024537.4(CARS2):c.582C>T (p.Tyr194=) rs1011442343 0.00004
NM_024537.4(CARS2):c.585C>T (p.Phe195=) rs199893369 0.00004
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His) rs370150532 0.00004
NM_024996.7(GFM1):c.1383C>T (p.Asn461=) rs774976760 0.00004
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) rs145247687 0.00004
NM_024996.7(GFM1):c.720del (p.Glu241fs) rs745718158 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_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_152269.5(MTRFR):c.*212G>A rs1189843224 0.00004
NM_152269.5(MTRFR):c.*747G>A rs886049048 0.00004
NM_152269.5(MTRFR):c.*869T>C rs1419363631 0.00004
NM_152269.5(MTRFR):c.181G>A (p.Glu61Lys) rs768652922 0.00004
NM_001083614.2(EARS2):c.*2193A>G rs567856922 0.00003
NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn) rs763888954 0.00003
NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys) rs201848368 0.00003
NM_001136193.2(FASTKD2):c.1978C>T (p.Arg660Trp) rs186489901 0.00003
NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu) rs771134176 0.00003
NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser) rs748497469 0.00003
NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu) rs767427194 0.00003
NM_003321.5(TUFM):c.*349G>A rs749982691 0.00003
NM_003321.5(TUFM):c.*517G>C rs886051875 0.00003
NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu) rs199674838 0.00003
NM_003321.5(TUFM):c.922+8A>G rs760803572 0.00003
NM_005726.6(TSFM):c.*182T>G rs188261377 0.00003
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.161G>A (p.Arg54Gln) rs202213736 0.00003
NM_005726.6(TSFM):c.787A>T (p.Met263Leu) rs764183902 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys) rs749594049 0.00003
NM_006567.5(FARS2):c.*4C>T rs200232967 0.00003
NM_006567.5(FARS2):c.1008C>T (p.Asp336=) rs145770549 0.00003
NM_006567.5(FARS2):c.1066-9T>G rs748955008 0.00003
NM_006567.5(FARS2):c.1221G>A (p.Thr407=) rs984460938 0.00003
NM_006567.5(FARS2):c.1267C>T (p.Arg423Trp) rs145697325 0.00003
NM_006567.5(FARS2):c.128C>G (p.Thr43Ser) rs769031929 0.00003
NM_006567.5(FARS2):c.332C>T (p.Ser111Leu) rs369145259 0.00003
NM_006567.5(FARS2):c.344A>G (p.Asn115Ser) rs200731335 0.00003
NM_006567.5(FARS2):c.411C>A (p.Ser137Arg) rs761360080 0.00003
NM_006567.5(FARS2):c.443G>A (p.Arg148Gln) rs753004463 0.00003
NM_006567.5(FARS2):c.444G>T (p.Arg148=) rs548957605 0.00003
NM_006567.5(FARS2):c.706G>A (p.Val236Met) rs369015058 0.00003
NM_006567.5(FARS2):c.730A>C (p.Lys244Gln) rs767530718 0.00003
NM_006567.5(FARS2):c.754G>A (p.Ala252Thr) rs371390356 0.00003
NM_006567.5(FARS2):c.755C>G (p.Ala252Gly) rs1047260982 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012123.4(MTO1):c.1465+4A>T rs555094677 0.00003
NM_012123.4(MTO1):c.1594A>G (p.Ile532Val) rs1327925744 0.00003
NM_012123.4(MTO1):c.1633G>A (p.Val545Ile) rs764677221 0.00003
NM_012123.4(MTO1):c.1717A>T (p.Thr573Ser) rs774500449 0.00003
NM_012123.4(MTO1):c.1902T>C (p.Phe634=) rs567020916 0.00003
NM_012123.4(MTO1):c.1957G>A (p.Ala653Thr) rs749086310 0.00003
NM_012123.4(MTO1):c.24C>T (p.Gly8=) rs773306512 0.00003
NM_012123.4(MTO1):c.258G>A (p.Lys86=) rs777174074 0.00003
NM_012123.4(MTO1):c.514C>T (p.Arg172Cys) rs370046018 0.00003
NM_012123.4(MTO1):c.693G>T (p.Val231=) rs558715877 0.00003
NM_012123.4(MTO1):c.806A>G (p.Asn269Ser) rs76335462 0.00003
NM_012123.4(MTO1):c.830A>G (p.Glu277Gly) rs368675393 0.00003
NM_012123.4(MTO1):c.94C>T (p.Pro32Ser) rs372395838 0.00003
NM_012123.4(MTO1):c.976C>G (p.Pro326Ala) rs1012000476 0.00003
NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn) rs201229537 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003
NM_017909.4(RMND1):c.188A>G (p.Asn63Ser) rs374223733 0.00003
NM_017909.4(RMND1):c.661G>C (p.Gly221Arg) rs1275538949 0.00003
NM_018127.7(ELAC2):c.1042G>A (p.Val348Met) rs370476174 0.00003
NM_018127.7(ELAC2):c.1079+13G>C rs200797227 0.00003
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr) rs1404085657 0.00003
NM_018127.7(ELAC2):c.1181C>T (p.Pro394Leu) rs1347935204 0.00003
NM_018127.7(ELAC2):c.1423+8G>A rs763673924 0.00003
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala) rs149210630 0.00003
NM_018127.7(ELAC2):c.1521C>T (p.Ser507=) rs772549996 0.00003
NM_018127.7(ELAC2):c.1525G>A (p.Asp509Asn) rs149866327 0.00003
NM_018127.7(ELAC2):c.1576C>T (p.Arg526Cys) rs760945874 0.00003
NM_018127.7(ELAC2):c.1584C>T (p.Tyr528=) rs772070282 0.00003
NM_018127.7(ELAC2):c.1659+13del rs753964584 0.00003
NM_018127.7(ELAC2):c.1660-5G>A rs931276557 0.00003
NM_018127.7(ELAC2):c.1701A>G (p.Ala567=) rs898456068 0.00003
NM_018127.7(ELAC2):c.1858G>A (p.Ala620Thr) rs960361937 0.00003
NM_018127.7(ELAC2):c.2108+13G>A rs190562664 0.00003
NM_018127.7(ELAC2):c.2115G>A (p.Thr705=) rs755866051 0.00003
NM_018127.7(ELAC2):c.2169C>T (p.Asn723=) rs781475188 0.00003
NM_018127.7(ELAC2):c.2220C>T (p.Ser740=) rs140626107 0.00003
NM_018127.7(ELAC2):c.222C>G (p.Leu74=) rs373242425 0.00003
NM_018127.7(ELAC2):c.2372G>A (p.Arg791Gln) rs148819805 0.00003
NM_018127.7(ELAC2):c.35C>T (p.Ala12Val) rs111252262 0.00003
NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg) rs374005835 0.00003
NM_018127.7(ELAC2):c.445G>A (p.Glu149Lys) rs779607134 0.00003
NM_018127.7(ELAC2):c.46A>G (p.Met16Val) rs533396669 0.00003
NM_018127.7(ELAC2):c.559+17G>C rs765765916 0.00003
NM_018127.7(ELAC2):c.659A>G (p.Asn220Ser) rs779111320 0.00003
NM_018127.7(ELAC2):c.679+9A>G rs756430924 0.00003
NM_018127.7(ELAC2):c.856C>T (p.His286Tyr) rs1184764865 0.00003
NM_018127.7(ELAC2):c.871-17C>T rs373231098 0.00003
NM_018127.7(ELAC2):c.983+10G>A rs552626383 0.00003
NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys) rs1057269467 0.00003
NM_020191.4(MRPS22):c.732G>A (p.Lys244=) rs755022329 0.00003
NM_020745.4(AARS2):c.*317G>A rs1468335658 0.00003
NM_020745.4(AARS2):c.1191C>T (p.Ile397=) rs745806197 0.00003
NM_020745.4(AARS2):c.1434+7G>A rs953512104 0.00003
NM_020745.4(AARS2):c.2132G>A (p.Arg711His) rs752743037 0.00003
NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln) rs566667883 0.00003
NM_020745.4(AARS2):c.22G>T (p.Ala8Ser) rs886061491 0.00003
NM_020745.4(AARS2):c.2561G>A (p.Arg854His) rs751611980 0.00003
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) rs766642839 0.00003
NM_020745.4(AARS2):c.872C>T (p.Pro291Leu) rs199985183 0.00003
NM_020745.4(AARS2):c.967G>A (p.Val323Met) rs770774995 0.00003
NM_020810.3(TRMT5):c.872G>A (p.Arg291His) rs746738473 0.00003
NM_021100.5(NFS1):c.948+1G>T rs774266655 0.00003
NM_024537.4(CARS2):c.1037G>A (p.Arg346Gln) rs773315723 0.00003
NM_024537.4(CARS2):c.1040G>A (p.Ser347Asn) rs1052359973 0.00003
NM_024537.4(CARS2):c.1055-7T>C rs775563211 0.00003
NM_024537.4(CARS2):c.10A>T (p.Thr4Ser) rs1037184355 0.00003
NM_024537.4(CARS2):c.1431C>T (p.Asp477=) rs771193928 0.00003
NM_024537.4(CARS2):c.1437C>T (p.Ser479=) rs756303536 0.00003
NM_024537.4(CARS2):c.1446C>G (p.Thr482=) rs372084282 0.00003
NM_024537.4(CARS2):c.1474C>T (p.Arg492Trp) rs200151026 0.00003
NM_024537.4(CARS2):c.1523C>T (p.Thr508Met) rs376713706 0.00003
NM_024537.4(CARS2):c.1530C>T (p.Asp510=) rs539168705 0.00003
NM_024537.4(CARS2):c.1623+1G>C rs1053982606 0.00003
NM_024537.4(CARS2):c.1649G>A (p.Trp550Ter) rs375213252 0.00003
NM_024537.4(CARS2):c.1688C>T (p.Ala563Val) rs542366222 0.00003
NM_024537.4(CARS2):c.269A>G (p.His90Arg) rs752180849 0.00003
NM_024537.4(CARS2):c.33C>A (p.Gly11=) rs907423199 0.00003
NM_024537.4(CARS2):c.466G>T (p.Val156Phe) rs148098469 0.00003
NM_024537.4(CARS2):c.528T>C (p.Ile176=) rs759194567 0.00003
NM_024537.4(CARS2):c.571+6G>T rs756061981 0.00003
NM_024537.4(CARS2):c.701C>T (p.Ala234Val) rs2062972972 0.00003
NM_024537.4(CARS2):c.71C>T (p.Ala24Val) rs990590876 0.00003
NM_024537.4(CARS2):c.988-10G>A rs568891064 0.00003
NM_024678.6(NARS2):c.595-6T>G rs774848576 0.00003
NM_024678.6(NARS2):c.641C>T (p.Pro214Leu) rs730882155 0.00003
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003
NM_024996.7(GFM1):c.1083+8G>T rs753905803 0.00003
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln) rs541171482 0.00003
NM_024996.7(GFM1):c.1852A>G (p.Met618Val) rs767798328 0.00003
NM_032380.5(GFM2):c.431-3T>C rs369071633 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala) rs377657203 0.00003
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003
NM_001083614.2(EARS2):c.*713T>C rs886051828 0.00002
NM_001083614.2(EARS2):c.1071G>A (p.Leu357=) rs769677259 0.00002
NM_001083614.2(EARS2):c.1234C>T (p.Arg412Cys) rs549058278 0.00002
NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val) rs201181229 0.00002
NM_001083614.2(EARS2):c.403G>A (p.Gly135Arg) rs762685823 0.00002
NM_001083614.2(EARS2):c.851A>G (p.Lys284Arg) rs760964412 0.00002
NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn) rs368574794 0.00002
NM_001136193.2(FASTKD2):c.1063A>G (p.Met355Val) rs766550165 0.00002
NM_001136193.2(FASTKD2):c.1698G>A (p.Pro566=) rs151258385 0.00002
NM_001136193.2(FASTKD2):c.62C>T (p.Ala21Val) rs549677418 0.00002
NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro) rs202102918 0.00002
NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr) rs368819721 0.00002
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter) rs778120270 0.00002
NM_003321.5(TUFM):c.1A>G (p.Met1Val) rs759426337 0.00002
NM_003321.5(TUFM):c.975C>T (p.Leu325=) rs757569717 0.00002
NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) rs1488258655 0.00002
NM_005035.4(POLRMT):c.1855G>A (p.Gly619Ser) rs764240322 0.00002
NM_005726.6(TSFM):c.*656A>G rs985828528 0.00002
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg) rs374679403 0.00002
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His) rs753252850 0.00002
NM_005932.4(MIPEP):c.1970+2T>A rs773688171 0.00002
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947 0.00002
NM_006567.5(FARS2):c.1051A>C (p.Lys351Gln) rs748818657 0.00002
NM_006567.5(FARS2):c.1230C>T (p.Thr410=) rs142426372 0.00002
NM_006567.5(FARS2):c.1280A>G (p.Gln427Arg) rs778281728 0.00002
NM_006567.5(FARS2):c.1293G>T (p.Arg431Ser) rs749743875 0.00002
NM_006567.5(FARS2):c.213C>T (p.Leu71=) rs748813583 0.00002
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser) rs764390927 0.00002
NM_006567.5(FARS2):c.259T>G (p.Trp87Gly) rs773187294 0.00002
NM_006567.5(FARS2):c.308G>T (p.Gly103Val) rs752460037 0.00002
NM_006567.5(FARS2):c.408C>T (p.Pro136=) rs917396515 0.00002
NM_006567.5(FARS2):c.409A>G (p.Ser137Gly) rs903869853 0.00002
NM_006567.5(FARS2):c.495C>T (p.His165=) rs761573935 0.00002
NM_006567.5(FARS2):c.496G>A (p.Ala166Thr) rs764932724 0.00002
NM_006567.5(FARS2):c.519G>C (p.Val173=) rs147754364 0.00002
NM_006567.5(FARS2):c.588C>T (p.Ala196=) rs138339047 0.00002
NM_006567.5(FARS2):c.589G>A (p.Val197Met) rs149605576 0.00002
NM_006567.5(FARS2):c.612+12G>A rs186634574 0.00002
NM_006567.5(FARS2):c.771T>C (p.Asp257=) rs779590953 0.00002
NM_006567.5(FARS2):c.924C>T (p.Ile308=) rs775382064 0.00002
NM_006576.4(AVIL):c.*404T>C rs58949411 0.00002
NM_012123.4(MTO1):c.1026C>T (p.Asp342=) rs780123184 0.00002
NM_012123.4(MTO1):c.1055C>T (p.Thr352Met) rs775003861 0.00002
NM_012123.4(MTO1):c.1129+13A>G rs199879600 0.00002
NM_012123.4(MTO1):c.1172C>G (p.Thr391Ser) rs377702561 0.00002
NM_012123.4(MTO1):c.1260+17T>G rs780859448 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012123.4(MTO1):c.1335T>C (p.Gly445=) rs539098813 0.00002
NM_012123.4(MTO1):c.1340T>C (p.Ile447Thr) rs755027057 0.00002
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys) rs1459252796 0.00002
NM_012123.4(MTO1):c.1391G>A (p.Arg464His) rs141970072 0.00002
NM_012123.4(MTO1):c.1418G>A (p.Arg473His) rs1472294844 0.00002
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter) rs771939280 0.00002
NM_012123.4(MTO1):c.146C>T (p.Thr49Ile) rs753822562 0.00002
NM_012123.4(MTO1):c.1650T>C (p.Val550=) rs755205490 0.00002
NM_012123.4(MTO1):c.1702C>G (p.Pro568Ala) rs200759516 0.00002
NM_012123.4(MTO1):c.1917G>A (p.Thr639=) rs142253409 0.00002
NM_012123.4(MTO1):c.1956C>T (p.Ala652=) rs777048417 0.00002
NM_012123.4(MTO1):c.1995A>G (p.Gln665=) rs146878659 0.00002
NM_012123.4(MTO1):c.210C>T (p.Asp70=) rs138494495 0.00002
NM_012123.4(MTO1):c.252C>T (p.Ile84=) rs374384468 0.00002
NM_012123.4(MTO1):c.286T>A (p.Leu96Met) rs145131490 0.00002
NM_012123.4(MTO1):c.313G>A (p.Asp105Asn) rs1008930519 0.00002
NM_012123.4(MTO1):c.339A>G (p.Val113=) rs776394925 0.00002
NM_012123.4(MTO1):c.553T>C (p.Tyr185His) rs772474195 0.00002
NM_012123.4(MTO1):c.634C>T (p.Arg212Cys) rs147346536 0.00002
NM_012123.4(MTO1):c.687G>T (p.Gly229=) rs748233496 0.00002
NM_012123.4(MTO1):c.774G>A (p.Pro258=) rs748667460 0.00002
NM_012123.4(MTO1):c.951C>A (p.Ser317=) rs777680736 0.00002
NM_012123.4(MTO1):c.969G>A (p.Leu323=) rs752977187 0.00002
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) rs397515421 0.00002
NM_017909.4(RMND1):c.1318-11T>C rs765780346 0.00002
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) rs746632175 0.00002
NM_018127.7(ELAC2):c.1008C>T (p.Pro336=) rs769647706 0.00002
NM_018127.7(ELAC2):c.1080-20C>T rs371507910 0.00002
NM_018127.7(ELAC2):c.120G>T (p.Leu40=) rs368781017 0.00002
NM_018127.7(ELAC2):c.1351C>A (p.Leu451Met) rs761514025 0.00002
NM_018127.7(ELAC2):c.144G>A (p.Pro48=) rs1231034298 0.00002
NM_018127.7(ELAC2):c.1490G>A (p.Arg497Gln) rs531523727 0.00002
NM_018127.7(ELAC2):c.1577G>A (p.Arg526His) rs775698705 0.00002
NM_018127.7(ELAC2):c.1613C>G (p.Thr538Ser) rs770299965 0.00002
NM_018127.7(ELAC2):c.1617G>C (p.Leu539=) rs539598982 0.00002
NM_018127.7(ELAC2):c.1645G>A (p.Ala549Thr) rs757284769 0.00002
NM_018127.7(ELAC2):c.1743C>T (p.Pro581=) rs1838655732 0.00002
NM_018127.7(ELAC2):c.1956G>A (p.Ala652=) rs776752737 0.00002
NM_018127.7(ELAC2):c.19C>G (p.Leu7Val) rs1003043105 0.00002
NM_018127.7(ELAC2):c.2030-2A>G rs1033730754 0.00002
NM_018127.7(ELAC2):c.2109-17C>G rs1053943347 0.00002
NM_018127.7(ELAC2):c.2226A>G (p.Lys742=) rs773995732 0.00002
NM_018127.7(ELAC2):c.2363G>A (p.Arg788Gln) rs567494102 0.00002
NM_018127.7(ELAC2):c.2418G>C (p.Gly806=) rs144228112 0.00002
NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp) rs767611235 0.00002
NM_018127.7(ELAC2):c.245+19C>A rs1037457378 0.00002
NM_018127.7(ELAC2):c.293A>G (p.His98Arg) rs1471918559 0.00002
NM_018127.7(ELAC2):c.393C>T (p.Thr131=) rs747138055 0.00002
NM_018127.7(ELAC2):c.39A>T (p.Gly13=) rs906248515 0.00002
NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu) rs139453392 0.00002
NM_018127.7(ELAC2):c.550C>T (p.Pro184Ser) rs755308728 0.00002
NM_018127.7(ELAC2):c.566A>G (p.Gln189Arg) rs779337966 0.00002
NM_018127.7(ELAC2):c.65T>C (p.Ile22Thr) rs934103595 0.00002
NM_018127.7(ELAC2):c.680G>A (p.Gly227Asp) rs746132751 0.00002
NM_018127.7(ELAC2):c.721G>A (p.Val241Ile) rs766704172 0.00002
NM_018127.7(ELAC2):c.797+9G>T rs762820869 0.00002
NM_018127.7(ELAC2):c.798-13C>G rs371733501 0.00002
NM_018127.7(ELAC2):c.841G>A (p.Gly281Arg) rs147215643 0.00002
NM_018127.7(ELAC2):c.8C>T (p.Ala3Val) rs1273371887 0.00002
NM_018127.7(ELAC2):c.983+14T>A rs758970515 0.00002
NM_018292.5(QRSL1):c.850-3A>G rs947204455 0.00002
NM_020191.4(MRPS22):c.137T>C (p.Met46Thr) rs1467055834 0.00002
NM_020191.4(MRPS22):c.172+11T>C rs374112977 0.00002
NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp) rs544369132 0.00002
NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu) rs759132658 0.00002
NM_020442.6(VARS2):c.104A>G (p.His35Arg) rs199534441 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly) rs767695626 0.00002
NM_020745.4(AARS2):c.*51T>C rs765200517 0.00002
NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys) rs756662327 0.00002
NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr) rs536579476 0.00002
NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser) rs200410313 0.00002
NM_020745.4(AARS2):c.915C>T (p.Tyr305=) rs778966995 0.00002
NM_024537.4(CARS2):c.1021C>T (p.Arg341Trp) rs138951398 0.00002
NM_024537.4(CARS2):c.1032C>T (p.Cys344=) rs767988744 0.00002
NM_024537.4(CARS2):c.1054+10G>A rs1337809361 0.00002
NM_024537.4(CARS2):c.1112G>A (p.Gly371Asp) rs765515018 0.00002
NM_024537.4(CARS2):c.1118T>C (p.Phe373Ser) rs753952896 0.00002
NM_024537.4(CARS2):c.1129G>A (p.Ala377Thr) rs547702190 0.00002
NM_024537.4(CARS2):c.1133G>A (p.Arg378His) rs770630631 0.00002
NM_024537.4(CARS2):c.1193+11C>T rs1320830088 0.00002
NM_024537.4(CARS2):c.1194-7C>T rs568526596 0.00002
NM_024537.4(CARS2):c.127C>T (p.Leu43=) rs1189964054 0.00002
NM_024537.4(CARS2):c.1464C>T (p.Asp488=) rs374641891 0.00002
NM_024537.4(CARS2):c.1465G>A (p.Glu489Lys) rs144664137 0.00002
NM_024537.4(CARS2):c.1481G>A (p.Arg494Gln) rs748191524 0.00002
NM_024537.4(CARS2):c.1541A>G (p.Gln514Arg) rs753574371 0.00002
NM_024537.4(CARS2):c.1575A>G (p.Ala525=) rs765758054 0.00002
NM_024537.4(CARS2):c.1578C>T (p.Cys526=) rs547578192 0.00002
NM_024537.4(CARS2):c.1689G>A (p.Ala563=) rs774357584 0.00002
NM_024537.4(CARS2):c.198C>A (p.Ile66=) rs762673064 0.00002
NM_024537.4(CARS2):c.224+3G>A rs772740990 0.00002
NM_024537.4(CARS2):c.292G>C (p.Asp98His) rs774407462 0.00002
NM_024537.4(CARS2):c.442A>G (p.Lys148Glu) rs763725050 0.00002
NM_024537.4(CARS2):c.470T>A (p.Leu157His) rs769254654 0.00002
NM_024537.4(CARS2):c.537C>T (p.Ile179=) rs142925085 0.00002
NM_024537.4(CARS2):c.545G>A (p.Arg182His) rs769307767 0.00002
NM_024537.4(CARS2):c.656-16C>T rs755708345 0.00002
NM_024537.4(CARS2):c.671G>A (p.Arg224His) rs199589765 0.00002
NM_024537.4(CARS2):c.765C>A (p.Ile255=) rs764405976 0.00002
NM_024537.4(CARS2):c.855C>T (p.Asn285=) rs201463850 0.00002
NM_024537.4(CARS2):c.870C>T (p.Cys290=) rs200515246 0.00002
NM_024537.4(CARS2):c.94C>G (p.Arg32Gly) rs924724206 0.00002
NM_024678.6(NARS2):c.141+5G>C rs766606763 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_024996.7(GFM1):c.*119G>A rs886058122 0.00002
NM_024996.7(GFM1):c.*559T>C rs886058124 0.00002
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs) rs753352064 0.00002
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) rs119470019 0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) rs1004779078 0.00002
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser) rs779253646 0.00002
NM_024996.7(GFM1):c.51C>T (p.Ala17=) rs937454854 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter) rs780762234 0.00002
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) rs574200635 0.00002
NM_025150.5(TARS2):c.1207G>A (p.Ala403Thr) rs587685186 0.00002
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys) rs756855066 0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys) rs760208518 0.00002
NM_032380.5(GFM2):c.200T>C (p.Ile67Thr) rs181900110 0.00002
NM_032380.5(GFM2):c.461G>A (p.Arg154Gln) rs371589931 0.00002
NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu) rs542667981 0.00002
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys) rs778983997 0.00002
NM_145691.4(ATPAF2):c.713G>A (p.Arg238His) rs770015610 0.00002
NM_152269.4(MTRFR):c.-128C>T rs886049039 0.00002
NM_152269.5(MTRFR):c.244G>A (p.Val82Met) rs374311195 0.00002
NM_152269.5(MTRFR):c.282+17C>T rs1197939863 0.00002
NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser) rs751310720 0.00002
NM_152269.5(MTRFR):c.405G>A (p.Ala135=) rs941522491 0.00002
NM_152269.5(MTRFR):c.459G>C (p.Lys153Asn) rs773644413 0.00002
NM_001083614.2(EARS2):c.*2105C>G rs550393372 0.00001
NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys) rs571483034 0.00001
NM_001083614.2(EARS2):c.1235G>A (p.Arg412His) rs753827689 0.00001
NM_001083614.2(EARS2):c.1491A>G (p.Gln497=) rs745678462 0.00001
NM_001083614.2(EARS2):c.193A>G (p.Lys65Glu) rs397514595 0.00001
NM_001083614.2(EARS2):c.197A>T (p.Lys66Met) rs779972107 0.00001
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_001083614.2(EARS2):c.334G>C (p.Ala112Pro) rs749048646 0.00001
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs) rs767857970 0.00001
NM_001083614.2(EARS2):c.43T>C (p.Ser15Pro) rs755022102 0.00001
NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr) rs397514594 0.00001
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser) rs397514592 0.00001
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter) rs994917847 0.00001
NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr) rs1204974208 0.00001
NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=) rs374830420 0.00001
NM_001136193.2(FASTKD2):c.319C>G (p.Leu107Val) rs760522658 0.00001
NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter) rs758094541 0.00001
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) rs536180346 0.00001
NM_001136193.2(FASTKD2):c.782G>A (p.Arg261His) rs918461594 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.305C>T (p.Ala102Val) rs869025314 0.00001
NM_001379210.1(SLC25A26):c.33+1G>A rs781798317 0.00001
NM_003321.5(TUFM):c.*270C>T rs867305584 0.00001
NM_003321.5(TUFM):c.*37G>A rs375508343 0.00001
NM_003321.5(TUFM):c.-37C>T rs886051877 0.00001
NM_003321.5(TUFM):c.100C>G (p.Leu34Val) rs760020885 0.00001
NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln) rs121434452 0.00001
NM_003321.5(TUFM):c.12G>T (p.Met4Ile) rs766371467 0.00001
NM_003321.5(TUFM):c.166C>G (p.Arg56Gly) rs1283449085 0.00001
NM_003321.5(TUFM):c.568C>T (p.Gln190Ter) rs764968635 0.00001
NM_003321.5(TUFM):c.581T>C (p.Met194Thr) rs1961891464 0.00001
NM_003321.5(TUFM):c.595G>C (p.Glu199Gln) rs1961890988 0.00001
NM_003321.5(TUFM):c.800C>T (p.Ala267Val) rs777415739 0.00001
NM_003321.5(TUFM):c.894T>C (p.His298=) rs780273573 0.00001
NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys) rs587776960 0.00001
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) rs1356446773 0.00001
NM_004208.4(AIFM1):c.1647A>G (p.Ala549=) rs1057515767 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_004208.4(AIFM1):c.858+13T>G rs769724106 0.00001
NM_004564.3(GATB):c.408T>G (p.Phe136Leu) rs376766195 0.00001
NM_004564.3(GATB):c.580_581del (p.Ser194fs) rs565910322 0.00001
NM_005035.4(POLRMT):c.445C>T (p.Gln149Ter) rs750698432 0.00001
NM_005726.6(TSFM):c.*461T>C rs886049733 0.00001
NM_005726.6(TSFM):c.*554A>G rs144070678 0.00001
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_005726.6(TSFM):c.361-14A>G rs759604491 0.00001
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter) rs751169823 0.00001
NM_005726.6(TSFM):c.484-10G>A rs374795252 0.00001
NM_005726.6(TSFM):c.484-11C>T rs752312466 0.00001
NM_005726.6(TSFM):c.48G>A (p.Gly16=) rs780011862 0.00001
NM_005726.6(TSFM):c.520G>T (p.Ala174Ser) rs886049731 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.601C>T (p.Arg201Ter) rs768320625 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu) rs756060769 0.00001
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) rs780533096 0.00001
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) rs768628283 0.00001
NM_005932.4(MIPEP):c.786+1G>C rs1408067328 0.00001
NM_006567.5(FARS2):c.1001G>A (p.Cys334Tyr) rs745888157 0.00001
NM_006567.5(FARS2):c.1011G>A (p.Glu337=) rs932539318 0.00001
NM_006567.5(FARS2):c.1012C>A (p.Arg338Ser) rs1167684566 0.00001
NM_006567.5(FARS2):c.1054G>T (p.Val352Leu) rs1360751755 0.00001
NM_006567.5(FARS2):c.1064A>G (p.Gln355Arg) rs775918126 0.00001
NM_006567.5(FARS2):c.1066-12_1066-11del rs1424235482 0.00001
NM_006567.5(FARS2):c.1083G>A (p.Pro361=) rs762103254 0.00001
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter) rs770597592 0.00001
NM_006567.5(FARS2):c.1157G>A (p.Arg386Gln) rs778309551 0.00001
NM_006567.5(FARS2):c.1163T>C (p.Ile388Thr) rs1407198979 0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.120G>A (p.Glu40=) rs761074033 0.00001
NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys) rs759833179 0.00001
NM_006567.5(FARS2):c.1251G>A (p.Thr417=) rs189168256 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_006567.5(FARS2):c.1282A>G (p.Arg428Gly) rs1339803692 0.00001
NM_006567.5(FARS2):c.1296C>T (p.His432=) rs1261704455 0.00001
NM_006567.5(FARS2):c.1308C>G (p.Ala436=) rs965780712 0.00001
NM_006567.5(FARS2):c.1312C>G (p.Gln438Glu) rs1477908693 0.00001
NM_006567.5(FARS2):c.160C>T (p.Leu54=) rs1380230371 0.00001
NM_006567.5(FARS2):c.184G>A (p.Asp62Asn) rs780467389 0.00001
NM_006567.5(FARS2):c.203G>A (p.Arg68Gln) rs368352168 0.00001
NM_006567.5(FARS2):c.224G>T (p.Gly75Val) rs367691523 0.00001
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter) rs1229314240 0.00001
NM_006567.5(FARS2):c.264G>A (p.Leu88=) rs377298153 0.00001
NM_006567.5(FARS2):c.312C>A (p.Arg104=) rs755776049 0.00001
NM_006567.5(FARS2):c.318G>A (p.Gly106=) rs140589763 0.00001
NM_006567.5(FARS2):c.333G>A (p.Ser111=) rs781723007 0.00001
NM_006567.5(FARS2):c.361A>G (p.Thr121Ala) rs1057519095 0.00001
NM_006567.5(FARS2):c.372G>A (p.Gln124=) rs566589950 0.00001
NM_006567.5(FARS2):c.375C>T (p.Asn125=) rs1173641601 0.00001
NM_006567.5(FARS2):c.477C>A (p.His159Gln) rs775340627 0.00001
NM_006567.5(FARS2):c.4G>T (p.Val2Leu) rs759961408 0.00001
NM_006567.5(FARS2):c.515T>C (p.Leu172Pro) rs754132045 0.00001
NM_006567.5(FARS2):c.539G>A (p.Arg180His) rs375460524 0.00001
NM_006567.5(FARS2):c.549C>T (p.Ile183=) rs776506015 0.00001
NM_006567.5(FARS2):c.562T>C (p.Tyr188His) rs1434464323 0.00001
NM_006567.5(FARS2):c.585G>A (p.Glu195=) rs764461862 0.00001
NM_006567.5(FARS2):c.586G>T (p.Ala196Ser) rs150490093 0.00001
NM_006567.5(FARS2):c.592C>T (p.Arg198Trp) rs1232483392 0.00001
NM_006567.5(FARS2):c.625A>G (p.Ile209Val) rs764360302 0.00001
NM_006567.5(FARS2):c.638A>G (p.Glu213Gly) rs1044543244 0.00001
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter) rs1057523346 0.00001
NM_006567.5(FARS2):c.649C>G (p.Leu217Val) rs756084801 0.00001
NM_006567.5(FARS2):c.668G>A (p.Arg223His) rs770650914 0.00001
NM_006567.5(FARS2):c.692A>T (p.His231Leu) rs137910005 0.00001
NM_006567.5(FARS2):c.6G>A (p.Val2=) rs772379847 0.00001
NM_006567.5(FARS2):c.704C>T (p.Ala235Val) rs763234952 0.00001
NM_006567.5(FARS2):c.72C>T (p.Ser24=) rs894420718 0.00001
NM_006567.5(FARS2):c.735A>G (p.Gln245=) rs752801499 0.00001
NM_006567.5(FARS2):c.751A>G (p.Met251Val) rs753691420 0.00001
NM_006567.5(FARS2):c.752T>C (p.Met251Thr) rs377582332 0.00001
NM_006567.5(FARS2):c.774G>A (p.Glu258=) rs1274777348 0.00001
NM_006567.5(FARS2):c.786A>G (p.Arg262=) rs1763132563 0.00001
NM_006567.5(FARS2):c.80A>G (p.His27Arg) rs537850422 0.00001
NM_006567.5(FARS2):c.812del (p.Thr271fs) rs1429774361 0.00001
NM_006567.5(FARS2):c.86A>G (p.His29Arg) rs754644366 0.00001
NM_006567.5(FARS2):c.894G>A (p.Leu298=) rs1470539531 0.00001
NM_006567.5(FARS2):c.904+9G>C rs201412926 0.00001
NM_006567.5(FARS2):c.905-5C>T rs1386174055 0.00001
NM_006567.5(FARS2):c.905C>T (p.Ala302Val) rs777903820 0.00001
NM_006567.5(FARS2):c.916G>T (p.Asp306Tyr) rs1354821900 0.00001
NM_006567.5(FARS2):c.957A>G (p.Leu319=) rs1015994762 0.00001
NM_006567.5(FARS2):c.958G>T (p.Ala320Ser) rs767870566 0.00001
NM_006567.5(FARS2):c.961A>G (p.Met321Val) rs1405389231 0.00001
NM_006567.5(FARS2):c.972C>T (p.Tyr324=) rs150789146 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NM_006567.5(FARS2):c.988C>T (p.Arg330Cys) rs757442324 0.00001
NM_006567.5(FARS2):c.993C>G (p.Leu331=) rs370814907 0.00001
NM_006567.5(FARS2):c.997T>A (p.Trp333Arg) rs1257634772 0.00001
NM_006576.4(AVIL):c.*433A>C rs1397583217 0.00001
NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser) rs758835610 0.00001
NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg) rs387906962 0.00001
NM_012123.4(MTO1):c.1044G>T (p.Gly348=) rs770890953 0.00001
NM_012123.4(MTO1):c.1056G>A (p.Thr352=) rs200078197 0.00001
NM_012123.4(MTO1):c.1067A>C (p.Glu356Ala) rs921979740 0.00001
NM_012123.4(MTO1):c.1123C>G (p.Gln375Glu) rs753603538 0.00001
NM_012123.4(MTO1):c.1129+14C>G rs757783161 0.00001
NM_012123.4(MTO1):c.1129+9G>T rs377448878 0.00001
NM_012123.4(MTO1):c.1134C>T (p.Tyr378=) rs779895347 0.00001
NM_012123.4(MTO1):c.1152C>T (p.Tyr384=) rs747803200 0.00001
NM_012123.4(MTO1):c.1194G>T (p.Leu398Phe) rs772209676 0.00001
NM_012123.4(MTO1):c.1226A>G (p.Asn409Ser) rs767029283 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.1261-9C>T rs1771508479 0.00001
NM_012123.4(MTO1):c.1272C>T (p.Ala424=) rs184320231 0.00001
NM_012123.4(MTO1):c.1273G>A (p.Gly425Arg) rs779264207 0.00001
NM_012123.4(MTO1):c.1284C>T (p.Ala428=) rs1771510990 0.00001
NM_012123.4(MTO1):c.1291C>T (p.Arg431Trp) rs748328322 0.00001
NM_012123.4(MTO1):c.1292G>A (p.Arg431Gln) rs367815963 0.00001
NM_012123.4(MTO1):c.1300C>T (p.Arg434Cys) rs535420006 0.00001
NM_012123.4(MTO1):c.1301G>A (p.Arg434His) rs775350046 0.00001
NM_012123.4(MTO1):c.1312T>C (p.Phe438Leu) rs753473168 0.00001
NM_012123.4(MTO1):c.1339A>G (p.Ile447Val) rs747475822 0.00001
NM_012123.4(MTO1):c.1367C>G (p.Thr456Ser) rs1771517793 0.00001
NM_012123.4(MTO1):c.1389C>T (p.Tyr463=) rs747803452 0.00001
NM_012123.4(MTO1):c.139G>A (p.Ala47Thr) rs1049905319 0.00001
NM_012123.4(MTO1):c.1401C>T (p.Thr467=) rs761354670 0.00001
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter) rs764848745 0.00001
NM_012123.4(MTO1):c.1463G>A (p.Arg488Gln) rs552919722 0.00001
NM_012123.4(MTO1):c.1466-11C>T rs1177539865 0.00001
NM_012123.4(MTO1):c.1498C>T (p.Arg500Ter) rs372842922 0.00001
NM_012123.4(MTO1):c.1510G>A (p.Ala504Thr) rs761290955 0.00001
NM_012123.4(MTO1):c.1515T>C (p.Cys505=) rs986939142 0.00001
NM_012123.4(MTO1):c.1541G>C (p.Gly514Ala) rs1392884488 0.00001
NM_012123.4(MTO1):c.1599A>G (p.Pro533=) rs1167772743 0.00001
NM_012123.4(MTO1):c.1616C>T (p.Thr539Ile) rs770538630 0.00001
NM_012123.4(MTO1):c.1626T>C (p.Ser542=) rs759376061 0.00001
NM_012123.4(MTO1):c.1638-12A>G rs762987532 0.00001
NM_012123.4(MTO1):c.1642C>G (p.Leu548Val) rs755838326 0.00001
NM_012123.4(MTO1):c.1757C>G (p.Ala586Gly) rs749806427 0.00001
NM_012123.4(MTO1):c.175G>T (p.Gly59Cys) rs376887969 0.00001
NM_012123.4(MTO1):c.187C>G (p.Leu63Val) rs371275324 0.00001
NM_012123.4(MTO1):c.1885C>T (p.Arg629Ter) rs752295415 0.00001
NM_012123.4(MTO1):c.1918-20C>T rs1227268741 0.00001
NM_012123.4(MTO1):c.1929T>A (p.Ala643=) rs779392966 0.00001
NM_012123.4(MTO1):c.192C>T (p.Leu64=) rs749354721 0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser) rs746382157 0.00001
NM_012123.4(MTO1):c.1934G>A (p.Arg645His) rs758448974 0.00001
NM_012123.4(MTO1):c.2002C>T (p.Gln668Ter) rs1235728877 0.00001
NM_012123.4(MTO1):c.2004G>A (p.Gln668=) rs1274349883 0.00001
NM_012123.4(MTO1):c.2007G>A (p.Ser669=) rs760282169 0.00001
NM_012123.4(MTO1):c.2036A>G (p.Gln679Arg) rs1418465267 0.00001
NM_012123.4(MTO1):c.2056A>G (p.Arg686Gly) rs780656358 0.00001
NM_012123.4(MTO1):c.2064A>G (p.Gln688=) rs372208655 0.00001
NM_012123.4(MTO1):c.2071G>C (p.Glu691Gln) rs748394297 0.00001
NM_012123.4(MTO1):c.2077T>C (p.Ter693Gln) rs770798772 0.00001
NM_012123.4(MTO1):c.208G>A (p.Asp70Asn) rs1346321637 0.00001
NM_012123.4(MTO1):c.218-8_218-6del rs776822646 0.00001
NM_012123.4(MTO1):c.228A>G (p.Ser76=) rs1770981132 0.00001
NM_012123.4(MTO1):c.304C>T (p.Arg102Cys) rs201570582 0.00001
NM_012123.4(MTO1):c.346C>T (p.Arg116Trp) rs770260720 0.00001
NM_012123.4(MTO1):c.347G>A (p.Arg116Gln) rs148202739 0.00001
NM_012123.4(MTO1):c.37G>A (p.Val13Ile) rs866899975 0.00001
NM_012123.4(MTO1):c.386T>C (p.Ile129Thr) rs1201307484 0.00001
NM_012123.4(MTO1):c.405A>G (p.Lys135=) rs1170291540 0.00001
NM_012123.4(MTO1):c.417+2T>C rs1030161382 0.00001
NM_012123.4(MTO1):c.433A>G (p.Thr145Ala) rs747033959 0.00001
NM_012123.4(MTO1):c.448G>C (p.Val150Leu) rs767983065 0.00001
NM_012123.4(MTO1):c.476T>C (p.Ile159Thr) rs1184680964 0.00001
NM_012123.4(MTO1):c.521G>A (p.Ser174Asn) rs200547196 0.00001
NM_012123.4(MTO1):c.526G>A (p.Val176Ile) rs1009189949 0.00001
NM_012123.4(MTO1):c.535+5G>A rs1405997705 0.00001
NM_012123.4(MTO1):c.556G>A (p.Ala186Thr) rs780534174 0.00001
NM_012123.4(MTO1):c.561G>C (p.Glu187Asp) rs1168041486 0.00001
NM_012123.4(MTO1):c.621G>A (p.Thr207=) rs763650850 0.00001
NM_012123.4(MTO1):c.635G>A (p.Arg212His) rs750101940 0.00001
NM_012123.4(MTO1):c.656T>C (p.Ile219Thr) rs747465085 0.00001
NM_012123.4(MTO1):c.70C>T (p.Arg24Trp) rs368723563 0.00001
NM_012123.4(MTO1):c.731C>T (p.Ala244Val) rs761373532 0.00001
NM_012123.4(MTO1):c.736G>C (p.Glu246Gln) rs750020202 0.00001
NM_012123.4(MTO1):c.764A>G (p.Lys255Arg) rs1279483238 0.00001
NM_012123.4(MTO1):c.768T>C (p.His256=) rs781712108 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_012123.4(MTO1):c.82G>A (p.Asp28Asn) rs780242649 0.00001
NM_012123.4(MTO1):c.840G>A (p.Leu280=) rs749351702 0.00001
NM_012123.4(MTO1):c.933A>G (p.Gly311=) rs1264684764 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_012123.4(MTO1):c.939-7A>T rs769685212 0.00001
NM_012123.4(MTO1):c.956A>G (p.Glu319Gly) rs376396609 0.00001
NM_012123.4(MTO1):c.96C>T (p.Pro32=) rs938648582 0.00001
NM_012123.4(MTO1):c.988C>T (p.His330Tyr) rs544282554 0.00001
NM_015971.4(MRPS7):c.508-1G>A rs372546274 0.00001
NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys) rs761334309 0.00001
NM_016065.3(MRPS16):c.-183A>G rs886047203 0.00001
NM_017646.6(TRIT1):c.326T>C (p.Ile109Thr) rs146838322 0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019 0.00001
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp) rs370866302 0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys) rs778086286 0.00001
NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser) rs755793918 0.00001
NM_017909.4(RMND1):c.201C>A (p.Ile67=) rs182333944 0.00001
NM_017909.4(RMND1):c.501C>T (p.Asn167=) rs374790732 0.00001
NM_017909.4(RMND1):c.530C>T (p.Ala177Val) rs1261711776 0.00001
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr) rs606231472 0.00001
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) rs387906327 0.00001
NM_018127.7(ELAC2):c.1004C>T (p.Ala335Val) rs187079048 0.00001
NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp) rs757575765 0.00001
NM_018127.7(ELAC2):c.1080-12G>A rs1447133657 0.00001
NM_018127.7(ELAC2):c.1080-17G>C rs772301440 0.00001
NM_018127.7(ELAC2):c.1080-19C>T rs763737021 0.00001
NM_018127.7(ELAC2):c.1151A>T (p.Lys384Met) rs752533400 0.00001
NM_018127.7(ELAC2):c.1161C>T (p.Thr387=) rs1057521455 0.00001
NM_018127.7(ELAC2):c.1218+20C>T rs1367660839 0.00001
NM_018127.7(ELAC2):c.1227C>T (p.Gly409=) rs138100769 0.00001
NM_018127.7(ELAC2):c.1257T>G (p.Gly419=) rs2040855188 0.00001
NM_018127.7(ELAC2):c.1267C>T (p.Leu423Phe) rs397515466 0.00001
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.127C>A (p.Arg43=) rs1598280966 0.00001
NM_018127.7(ELAC2):c.1282C>T (p.Arg428Cys) rs775958815 0.00001
NM_018127.7(ELAC2):c.1286C>G (p.Pro429Arg) rs1285444804 0.00001
NM_018127.7(ELAC2):c.1305-10C>T rs771858858 0.00001
NM_018127.7(ELAC2):c.1305-2A>G rs779254943 0.00001
NM_018127.7(ELAC2):c.1323C>G (p.Cys441Trp) rs1567751438 0.00001
NM_018127.7(ELAC2):c.132G>A (p.Glu44=) rs933215096 0.00001
NM_018127.7(ELAC2):c.134A>G (p.Lys45Arg) rs745328310 0.00001
NM_018127.7(ELAC2):c.136C>T (p.Arg46Cys) rs2041835898 0.00001
NM_018127.7(ELAC2):c.1375A>G (p.Ser459Gly) rs760132087 0.00001
NM_018127.7(ELAC2):c.1400C>T (p.Ala467Val) rs749460308 0.00001
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter) rs138114191 0.00001
NM_018127.7(ELAC2):c.1436A>G (p.Gln479Arg) rs1165336639 0.00001
NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala) rs1474253067 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018127.7(ELAC2):c.146C>T (p.Ser49Leu) rs1235154753 0.00001
NM_018127.7(ELAC2):c.1476C>T (p.Ile492=) rs766476173 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.1524C>T (p.Pro508=) rs746298894 0.00001
NM_018127.7(ELAC2):c.1530G>A (p.Thr510=) rs202041978 0.00001
NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) rs1240684251 0.00001
NM_018127.7(ELAC2):c.1608G>A (p.Leu536=) rs773774169 0.00001
NM_018127.7(ELAC2):c.1646C>T (p.Ala549Val) rs753617499 0.00001
NM_018127.7(ELAC2):c.1658C>T (p.Thr553Met) rs755904309 0.00001
NM_018127.7(ELAC2):c.1669A>G (p.Ser557Gly) rs920039553 0.00001
NM_018127.7(ELAC2):c.1680G>A (p.Leu560=) rs1204658530 0.00001
NM_018127.7(ELAC2):c.1686A>G (p.Arg562=) rs376766610 0.00001
NM_018127.7(ELAC2):c.1698+18T>G rs773809126 0.00001
NM_018127.7(ELAC2):c.1699-19C>G rs371530852 0.00001
NM_018127.7(ELAC2):c.1699-20A>G rs1489448575 0.00001
NM_018127.7(ELAC2):c.1722C>T (p.His574=) rs770617287 0.00001
NM_018127.7(ELAC2):c.1728G>C (p.Leu576Phe) rs2040437747 0.00001
NM_018127.7(ELAC2):c.178C>T (p.Leu60=) rs1266677255 0.00001
NM_018127.7(ELAC2):c.1808+15C>T rs930358086 0.00001
NM_018127.7(ELAC2):c.1820C>T (p.Ala607Val) rs913207452 0.00001
NM_018127.7(ELAC2):c.1876A>G (p.Ser626Gly) rs745680653 0.00001
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter) rs781680309 0.00001
NM_018127.7(ELAC2):c.1915A>G (p.Thr639Ala) rs758792385 0.00001
NM_018127.7(ELAC2):c.1927C>T (p.Arg643Trp) rs373464578 0.00001
NM_018127.7(ELAC2):c.1988A>G (p.Tyr663Cys) rs781379178 0.00001
NM_018127.7(ELAC2):c.1993G>A (p.Gly665Arg) rs777258865 0.00001
NM_018127.7(ELAC2):c.2007C>G (p.Pro669=) rs780790017 0.00001
NM_018127.7(ELAC2):c.2011G>A (p.Glu671Lys) rs754567726 0.00001
NM_018127.7(ELAC2):c.2017C>T (p.Leu673=) rs200759780 0.00001
NM_018127.7(ELAC2):c.2020G>A (p.Val674Ile) rs750302074 0.00001
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp) rs1157458251 0.00001
NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln) rs765368974 0.00001
NM_018127.7(ELAC2):c.2030-6C>T rs548603402 0.00001
NM_018127.7(ELAC2):c.2076T>G (p.Gly692=) rs577239094 0.00001
NM_018127.7(ELAC2):c.2108+12C>T rs757853122 0.00001
NM_018127.7(ELAC2):c.2109-19C>G rs893950337 0.00001
NM_018127.7(ELAC2):c.2112A>G (p.Thr704=) rs998359804 0.00001
NM_018127.7(ELAC2):c.2118C>G (p.Ser706=) rs752923351 0.00001
NM_018127.7(ELAC2):c.2131G>A (p.Val711Met) rs560136994 0.00001
NM_018127.7(ELAC2):c.2148C>T (p.Asn716=) rs759078534 0.00001
NM_018127.7(ELAC2):c.2149G>A (p.Ala717Thr) rs796103645 0.00001
NM_018127.7(ELAC2):c.2163G>T (p.Met721Ile) rs769609689 0.00001
NM_018127.7(ELAC2):c.2249T>G (p.Met750Arg) rs769686385 0.00001
NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys) rs137859574 0.00001
NM_018127.7(ELAC2):c.2254-11G>A rs553919919 0.00001
NM_018127.7(ELAC2):c.2254-5T>G rs922658791 0.00001
NM_018127.7(ELAC2):c.2254-8T>C rs186366777 0.00001
NM_018127.7(ELAC2):c.226G>A (p.Val76Ile) rs377073548 0.00001
NM_018127.7(ELAC2):c.2291T>G (p.Ile764Ser) rs779668862 0.00001
NM_018127.7(ELAC2):c.2295C>G (p.Pro765=) rs371543722 0.00001
NM_018127.7(ELAC2):c.22C>T (p.Leu8=) rs754652199 0.00001
NM_018127.7(ELAC2):c.2333T>C (p.Met778Thr) rs774664159 0.00001
NM_018127.7(ELAC2):c.2341C>T (p.Arg781Cys) rs770865114 0.00001
NM_018127.7(ELAC2):c.2370G>A (p.Val790=) rs143840985 0.00001
NM_018127.7(ELAC2):c.2423C>T (p.Pro808Leu) rs1187954440 0.00001
NM_018127.7(ELAC2):c.2426A>T (p.Gln809Leu) rs922510869 0.00001
NM_018127.7(ELAC2):c.2445_2447del (p.Glu817del) rs1377575423 0.00001
NM_018127.7(ELAC2):c.245+17C>A rs754772263 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.2455C>T (p.Gln819Ter) rs1439706479 0.00001
NM_018127.7(ELAC2):c.2467G>T (p.Val823Phe) rs376515152 0.00001
NM_018127.7(ELAC2):c.24G>A (p.Leu8=) rs1598281471 0.00001
NM_018127.7(ELAC2):c.259T>C (p.Cys87Arg) rs753052433 0.00001
NM_018127.7(ELAC2):c.271G>A (p.Val91Ile) rs750042259 0.00001
NM_018127.7(ELAC2):c.297-4T>C rs376806455 0.00001
NM_018127.7(ELAC2):c.303G>A (p.Lys101=) rs777807535 0.00001
NM_018127.7(ELAC2):c.310C>T (p.Arg104Cys) rs748205884 0.00001
NM_018127.7(ELAC2):c.357G>A (p.Gly119=) rs376498988 0.00001
NM_018127.7(ELAC2):c.361T>C (p.Leu121=) rs200893345 0.00001
NM_018127.7(ELAC2):c.368-11A>G rs750133002 0.00001
NM_018127.7(ELAC2):c.372G>A (p.Met124Ile) rs765484266 0.00001
NM_018127.7(ELAC2):c.432+15A>C rs754403836 0.00001
NM_018127.7(ELAC2):c.432+18C>T rs779908196 0.00001
NM_018127.7(ELAC2):c.432+1G>A rs769454280 0.00001
NM_018127.7(ELAC2):c.433-5A>G rs373498430 0.00001
NM_018127.7(ELAC2):c.45C>T (p.Thr15=) rs551832115 0.00001
NM_018127.7(ELAC2):c.491-6T>C rs755040798 0.00001
NM_018127.7(ELAC2):c.495G>A (p.Val165=) rs751671002 0.00001
NM_018127.7(ELAC2):c.50C>T (p.Ser17Leu) rs765096739 0.00001
NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser) rs775086832 0.00001
NM_018127.7(ELAC2):c.537A>C (p.Thr179=) rs755930395 0.00001
NM_018127.7(ELAC2):c.546G>C (p.Gln182His) rs747959167 0.00001
NM_018127.7(ELAC2):c.559+16A>G rs1449825249 0.00001
NM_018127.7(ELAC2):c.560-10T>C rs1318229217 0.00001
NM_018127.7(ELAC2):c.582C>T (p.His194=) rs764486912 0.00001
NM_018127.7(ELAC2):c.623G>A (p.Ser208Asn) rs1392434007 0.00001
NM_018127.7(ELAC2):c.631C>T (p.Arg211Ter) rs761881815 0.00001
NM_018127.7(ELAC2):c.651G>A (p.Ser217=) rs201530031 0.00001
NM_018127.7(ELAC2):c.668A>G (p.His223Arg) rs745937151 0.00001
NM_018127.7(ELAC2):c.677A>G (p.His226Arg) rs757735135 0.00001
NM_018127.7(ELAC2):c.680-11T>G rs1367528939 0.00001
NM_018127.7(ELAC2):c.69G>T (p.Ser23=) rs1299982871 0.00001
NM_018127.7(ELAC2):c.703A>G (p.Arg235Gly) rs1567767157 0.00001
NM_018127.7(ELAC2):c.716T>C (p.Leu239Pro) rs750047784 0.00001
NM_018127.7(ELAC2):c.738+7A>C rs767269129 0.00001
NM_018127.7(ELAC2):c.738+9G>C rs188872129 0.00001
NM_018127.7(ELAC2):c.739-11C>T rs919712707 0.00001
NM_018127.7(ELAC2):c.82C>T (p.Arg28Cys) rs763864314 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NM_018127.7(ELAC2):c.895C>A (p.Pro299Thr) rs771897223 0.00001
NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala) rs188256643 0.00001
NM_018127.7(ELAC2):c.967A>G (p.Asn323Asp) rs1305210872 0.00001
NM_018127.7(ELAC2):c.983+6G>C rs1288953158 0.00001
NM_018127.7(ELAC2):c.984-18C>A rs1382193290 0.00001
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys) rs948280864 0.00001
NM_020191.4(MRPS22):c.90G>A (p.Gln30=) rs772766573 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn) rs753490759 0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His) rs775439829 0.00001
NM_020442.6(VARS2):c.2684G>A (p.Arg895His) rs570231965 0.00001
NM_020442.6(VARS2):c.503G>A (p.Arg168His) rs776585917 0.00001
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp) rs544609783 0.00001
NM_020745.4(AARS2):c.*1485G>A rs886061481 0.00001
NM_020745.4(AARS2):c.*262T>C rs886061484 0.00001
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) rs587777591 0.00001
NM_020745.4(AARS2):c.1788T>C (p.Cys596=) rs201849519 0.00001
NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys) rs781702000 0.00001
NM_020745.4(AARS2):c.2146-11C>T rs886061487 0.00001
NM_020745.4(AARS2):c.2146-2A>G rs368934219 0.00001
NM_020745.4(AARS2):c.2255+1G>A rs1186074948 0.00001
NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys) rs779053083 0.00001
NM_020745.4(AARS2):c.2683-1G>T rs374185049 0.00001
NM_020745.4(AARS2):c.268G>C (p.Val90Leu) rs863223860 0.00001
NM_020745.4(AARS2):c.277C>T (p.Arg93Ter) rs760920084 0.00001
NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr) rs771293152 0.00001
NM_020745.4(AARS2):c.426A>G (p.Glu142=) rs779650766 0.00001
NM_020745.4(AARS2):c.464T>G (p.Leu155Arg) rs387907061 0.00001
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys) rs767748655 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_020810.3(TRMT5):c.1156A>G (p.Met386Val) rs1057517685 0.00001
NM_022072.5(NSUN3):c.295C>T (p.Arg99Ter) rs762031082 0.00001
NM_023936.1(MRPS34):c.321+1G>T rs1161932777 0.00001
NM_023936.2(MRPS34):c.562G>A (p.Glu188Lys) rs1313473522 0.00001
NM_024537.4(CARS2):c.1008C>T (p.Ser336=) rs1313306865 0.00001
NM_024537.4(CARS2):c.1012G>A (p.Asp338Asn) rs577161897 0.00001
NM_024537.4(CARS2):c.101C>G (p.Ala34Gly) rs567317952 0.00001
NM_024537.4(CARS2):c.1036C>T (p.Arg346Trp) rs759804272 0.00001
NM_024537.4(CARS2):c.1048C>T (p.Arg350Cys) rs773231493 0.00001
NM_024537.4(CARS2):c.1049G>A (p.Arg350His) rs1195058620 0.00001
NM_024537.4(CARS2):c.1054+7C>T rs369116566 0.00001
NM_024537.4(CARS2):c.1061A>G (p.Asp354Gly) rs745633983 0.00001
NM_024537.4(CARS2):c.1065C>T (p.Tyr355=) rs568277703 0.00001
NM_024537.4(CARS2):c.1080G>A (p.Met360Ile) rs1888255028 0.00001
NM_024537.4(CARS2):c.1084C>T (p.Gln362Ter) rs1439475292 0.00001
NM_024537.4(CARS2):c.1101C>T (p.Leu367=) rs527311442 0.00001
NM_024537.4(CARS2):c.1135G>A (p.Ala379Thr) rs748825203 0.00001
NM_024537.4(CARS2):c.1161C>T (p.Cys387=) rs772515282 0.00001
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser) rs746241006 0.00001
NM_024537.4(CARS2):c.117G>A (p.Gly39=) rs1324528918 0.00001
NM_024537.4(CARS2):c.1193+10C>T rs1888233172 0.00001
NM_024537.4(CARS2):c.119G>C (p.Arg40Pro) rs916018424 0.00001
NM_024537.4(CARS2):c.1206C>T (p.Thr402=) rs556643017 0.00001
NM_024537.4(CARS2):c.1207A>G (p.Lys403Glu) rs762700157 0.00001
NM_024537.4(CARS2):c.1218G>A (p.Val406=) rs144612077 0.00001
NM_024537.4(CARS2):c.1224G>A (p.Ala408=) rs193086198 0.00001
NM_024537.4(CARS2):c.1233A>C (p.Ala411=) rs1304133948 0.00001
NM_024537.4(CARS2):c.1250C>G (p.Pro417Arg) rs766539038 0.00001
NM_024537.4(CARS2):c.1257G>A (p.Val419=) rs774758878 0.00001
NM_024537.4(CARS2):c.126G>C (p.Trp42Cys) rs1019467802 0.00001
NM_024537.4(CARS2):c.1278T>G (p.Leu426=) rs1213717785 0.00001
NM_024537.4(CARS2):c.1288G>A (p.Gly430Arg) rs113033050 0.00001
NM_024537.4(CARS2):c.1292A>G (p.Asn431Ser) rs548716694 0.00001
NM_024537.4(CARS2):c.1307C>T (p.Ala436Val) rs530176962 0.00001
NM_024537.4(CARS2):c.1318-10T>A rs773908976 0.00001
NM_024537.4(CARS2):c.1318-17G>A rs182585150 0.00001
NM_024537.4(CARS2):c.1321C>A (p.Pro441Thr) rs777089715 0.00001
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln) rs761022161 0.00001
NM_024537.4(CARS2):c.1332G>A (p.Pro444=) rs745916376 0.00001
NM_024537.4(CARS2):c.1334G>T (p.Arg445Ile) rs1594210396 0.00001
NM_024537.4(CARS2):c.1352G>A (p.Gly451Asp) rs1328163225 0.00001
NM_024537.4(CARS2):c.1377G>C (p.Gln459His) rs1047045222 0.00001
NM_024537.4(CARS2):c.1405G>A (p.Ala469Thr) rs868665261 0.00001
NM_024537.4(CARS2):c.1413A>G (p.Gln471=) rs1218494594 0.00001
NM_024537.4(CARS2):c.1417-10C>T rs761277278 0.00001
NM_024537.4(CARS2):c.1417-6C>T rs775887829 0.00001
NM_024537.4(CARS2):c.1417-9T>C rs1453472089 0.00001
NM_024537.4(CARS2):c.1442C>T (p.Ala481Val) rs1263877433 0.00001
NM_024537.4(CARS2):c.1452T>C (p.His484=) rs750129111 0.00001
NM_024537.4(CARS2):c.1463A>G (p.Asp488Gly) rs1484021017 0.00001
NM_024537.4(CARS2):c.1473G>A (p.Val491=) rs774705663 0.00001
NM_024537.4(CARS2):c.1480C>T (p.Arg494Trp) rs200697273 0.00001
NM_024537.4(CARS2):c.1492C>T (p.Arg498Trp) rs758217572 0.00001
NM_024537.4(CARS2):c.1509C>T (p.Ala503=) rs766953234 0.00001
NM_024537.4(CARS2):c.150G>T (p.Thr50=) rs752758322 0.00001
NM_024537.4(CARS2):c.1534C>T (p.Arg512Trp) rs199527718 0.00001
NM_024537.4(CARS2):c.1537C>T (p.Arg513Trp) rs143777330 0.00001
NM_024537.4(CARS2):c.1561C>T (p.Pro521Ser) rs767008467 0.00001
NM_024537.4(CARS2):c.1581C>T (p.Asp527=) rs201472735 0.00001
NM_024537.4(CARS2):c.1588C>T (p.Arg530Cys) rs1368294658 0.00001
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp) rs566143026 0.00001
NM_024537.4(CARS2):c.1605C>T (p.Ala535=) rs568391657 0.00001
NM_024537.4(CARS2):c.1623+10G>A rs368020365 0.00001
NM_024537.4(CARS2):c.1623+3G>A rs554100218 0.00001
NM_024537.4(CARS2):c.1623+9C>T rs1302154832 0.00001
NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn) rs747870375 0.00001
NM_024537.4(CARS2):c.1659G>A (p.Leu553=) rs1474595916 0.00001
NM_024537.4(CARS2):c.1666A>G (p.Arg556Gly) rs1566629935 0.00001
NM_024537.4(CARS2):c.1667G>C (p.Arg556Thr) rs1191970053 0.00001
NM_024537.4(CARS2):c.1676A>G (p.Asp559Gly) rs756477588 0.00001
NM_024537.4(CARS2):c.1685C>G (p.Ser562Ter) rs1229833841 0.00001
NM_024537.4(CARS2):c.174C>T (p.Leu58=) rs751387497 0.00001
NM_024537.4(CARS2):c.178G>C (p.Gly60Arg) rs199874662 0.00001
NM_024537.4(CARS2):c.217G>T (p.Ala73Ser) rs761282112 0.00001
NM_024537.4(CARS2):c.225-19A>C rs45518835 0.00001
NM_024537.4(CARS2):c.2T>G (p.Met1Arg) rs774110184 0.00001
NM_024537.4(CARS2):c.301C>G (p.Arg101Gly) rs777672253 0.00001
NM_024537.4(CARS2):c.358G>A (p.Asp120Asn) rs988495210 0.00001
NM_024537.4(CARS2):c.373A>G (p.Ile125Val) rs774544603 0.00001
NM_024537.4(CARS2):c.393+1G>A rs1298568967 0.00001
NM_024537.4(CARS2):c.394-17A>C rs369266402 0.00001
NM_024537.4(CARS2):c.394-5T>C rs371348017 0.00001
NM_024537.4(CARS2):c.394-9C>T rs1317745997 0.00001
NM_024537.4(CARS2):c.394A>G (p.Met132Val) rs2063353822 0.00001
NM_024537.4(CARS2):c.398A>G (p.Asn133Ser) rs748579020 0.00001
NM_024537.4(CARS2):c.408C>T (p.Pro136=) rs755243580 0.00001
NM_024537.4(CARS2):c.42G>T (p.Leu14=) rs1010589821 0.00001
NM_024537.4(CARS2):c.451A>G (p.Met151Val) rs1238769844 0.00001
NM_024537.4(CARS2):c.465+12G>A rs891716784 0.00001
NM_024537.4(CARS2):c.465+20G>T rs770358381 0.00001
NM_024537.4(CARS2):c.466-12A>G rs760516571 0.00001
NM_024537.4(CARS2):c.478A>C (p.Thr160Pro) rs1360090647 0.00001
NM_024537.4(CARS2):c.498C>G (p.Thr166=) rs757335344 0.00001
NM_024537.4(CARS2):c.509C>T (p.Pro170Leu) rs918590287 0.00001
NM_024537.4(CARS2):c.521C>A (p.Ser174Tyr) rs1393002060 0.00001
NM_024537.4(CARS2):c.527T>C (p.Ile176Thr) rs767243208 0.00001
NM_024537.4(CARS2):c.552C>T (p.Asn184=) rs533611037 0.00001
NM_024537.4(CARS2):c.571+12G>C rs201439493 0.00001
NM_024537.4(CARS2):c.571+20T>C rs758019231 0.00001
NM_024537.4(CARS2):c.571+5G>C rs1005137257 0.00001
NM_024537.4(CARS2):c.573C>T (p.Gly191=) rs1223141816 0.00001
NM_024537.4(CARS2):c.601G>A (p.Gly201Arg) rs1305604439 0.00001
NM_024537.4(CARS2):c.624C>T (p.Val208=) rs768173954 0.00001
NM_024537.4(CARS2):c.632T>C (p.Val211Ala) rs773483383 0.00001
NM_024537.4(CARS2):c.633C>T (p.Val211=) rs769981233 0.00001
NM_024537.4(CARS2):c.634C>T (p.Pro212Ser) rs748268508 0.00001
NM_024537.4(CARS2):c.645C>T (p.Val215=) rs776642452 0.00001
NM_024537.4(CARS2):c.646G>A (p.Gly216Arg) rs768491774 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.655+4G>A rs369200736 0.00001
NM_024537.4(CARS2):c.655+6T>C rs2063202198 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024537.4(CARS2):c.656-12T>G rs758863375 0.00001
NM_024537.4(CARS2):c.656-17C>T rs777289486 0.00001
NM_024537.4(CARS2):c.656-20G>A rs578236157 0.00001
NM_024537.4(CARS2):c.656-8A>G rs1199052460 0.00001
NM_024537.4(CARS2):c.660C>T (p.Asp220=) rs762160669 0.00001
NM_024537.4(CARS2):c.662C>G (p.Ser221Cys) rs201064390 0.00001
NM_024537.4(CARS2):c.684C>T (p.Asp228=) rs537075451 0.00001
NM_024537.4(CARS2):c.687C>T (p.Phe229=) rs775389111 0.00001
NM_024537.4(CARS2):c.688G>A (p.Ala230Thr) rs772065497 0.00001
NM_024537.4(CARS2):c.702G>A (p.Ala234=) rs143818816 0.00001
NM_024537.4(CARS2):c.73G>A (p.Gly25Arg) rs1390223276 0.00001
NM_024537.4(CARS2):c.752C>T (p.Pro251Leu) rs557671802 0.00001
NM_024537.4(CARS2):c.766G>A (p.Glu256Lys) rs756239121 0.00001
NM_024537.4(CARS2):c.778A>G (p.Ile260Val) rs1404698696 0.00001
NM_024537.4(CARS2):c.786-4G>A rs755159239 0.00001
NM_024537.4(CARS2):c.798A>G (p.Gly266=) rs1032327144 0.00001
NM_024537.4(CARS2):c.84G>T (p.Trp28Cys) rs1388391654 0.00001
NM_024537.4(CARS2):c.867G>A (p.Gln289=) rs1446340847 0.00001
NM_024537.4(CARS2):c.871G>A (p.Glu291Lys) rs749694651 0.00001
NM_024537.4(CARS2):c.880C>T (p.His294Tyr) rs201349963 0.00001
NM_024537.4(CARS2):c.884A>C (p.Gln295Pro) rs781605848 0.00001
NM_024537.4(CARS2):c.888C>T (p.Cys296=) rs780225759 0.00001
NM_024537.4(CARS2):c.919+7A>G rs376314240 0.00001
NM_024537.4(CARS2):c.937G>A (p.Gly313Ser) rs760461507 0.00001
NM_024537.4(CARS2):c.954G>A (p.Met318Ile) rs767180583 0.00001
NM_024537.4(CARS2):c.961T>G (p.Ser321Ala) rs759013193 0.00001
NM_024537.4(CARS2):c.976A>G (p.Ile326Val) rs2062564847 0.00001
NM_024537.4(CARS2):c.987+5C>T rs1465957770 0.00001
NM_024537.4(CARS2):c.987+7T>C rs777142413 0.00001
NM_024537.4(CARS2):c.988-11C>T rs201251622 0.00001
NM_024537.4(CARS2):c.99G>T (p.Ala33=) rs1449541513 0.00001
NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys) rs1481123553 0.00001
NM_024678.6(NARS2):c.500A>G (p.His167Arg) rs750594551 0.00001
NM_024678.6(NARS2):c.631T>A (p.Phe211Ile) rs755122704 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.1118G>A (p.Ser373Asn) rs1023544297 0.00001
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) rs183140307 0.00001
NM_024996.7(GFM1):c.1221+20G>A rs1412836196 0.00001
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val) rs1314322801 0.00001
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr) rs138058648 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.1830C>T (p.Val610=) rs139680551 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.1922C>A (p.Ala641Glu) rs1390685552 0.00001
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) rs1402362655 0.00001
NM_024996.7(GFM1):c.2016T>C (p.His672=) rs755853174 0.00001
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu) rs764933537 0.00001
NM_024996.7(GFM1):c.409G>A (p.Val137Met) rs767325554 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.443T>C (p.Val148Ala) rs758591202 0.00001
NM_024996.7(GFM1):c.607A>G (p.Ile203Val) rs1722079229 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_024996.7(GFM1):c.897C>T (p.Ser299=) rs763546447 0.00001
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala) rs781397040 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.470C>G (p.Thr157Arg) rs758088548 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_032380.5(GFM2):c.1229T>A (p.Ile410Lys) rs863224037 0.00001
NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln) rs753748448 0.00001
NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln) rs1228454692 0.00001
NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln) rs1404625905 0.00001
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr) rs767434617 0.00001
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_032620.4(GTPBP3):c.664+18T>G rs369523370 0.00001
NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser) rs772348422 0.00001
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) rs200088200 0.00001
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro) rs879255657 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_138395.4(MARS2):c.424C>T (p.Arg142Trp) rs794726870 0.00001
NM_138395.4(MARS2):c.550C>T (p.Gln184Ter) rs794726869 0.00001
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu) rs587777244 0.00001
NM_145691.4(ATPAF2):c.*54C>T rs547389437 0.00001
NM_145691.4(ATPAF2):c.-1G>T rs886052665 0.00001
NM_145691.4(ATPAF2):c.422+11T>C rs776986750 0.00001
NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro) rs746446116 0.00001
NM_152269.4(MTRFR):c.-132A>G rs1025491766 0.00001
NM_152269.4(MTRFR):c.-206G>T rs886049038 0.00001
NM_152269.5(MTRFR):c.*13A>C rs527540475 0.00001
NM_152269.5(MTRFR):c.*195G>A rs139881564 0.00001
NM_152269.5(MTRFR):c.*853C>G rs1039664652 0.00001
NM_152269.5(MTRFR):c.*887T>A rs1348487479 0.00001
NM_152269.5(MTRFR):c.276T>C (p.Val92=) rs907535491 0.00001
NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys) rs367548363 0.00001
NM_152269.5(MTRFR):c.297A>T (p.Arg99Ser) rs1459276555 0.00001
NM_152269.5(MTRFR):c.333C>A (p.Ile111=) rs769551356 0.00001
NM_152269.5(MTRFR):c.347T>C (p.Val116Ala) rs374464556 0.00001
NM_152269.5(MTRFR):c.353T>C (p.Val118Ala) rs767743830 0.00001
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) rs397514539 0.00001
NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr) rs749208492 0.00001
NM_152269.5(MTRFR):c.475T>C (p.Trp159Arg) rs755467137 0.00001
NM_152269.5(MTRFR):c.57G>A (p.Ala19=) rs749569183 0.00001
NM_152269.5(MTRFR):c.90G>A (p.Thr30=) rs775127232 0.00001
NM_205767.3(MICOS13):c.260-2A>G rs1064797230 0.00001
NM_213649.2(SFXN4):c.410C>T (p.Pro137Leu) rs377410779 0.00001
NM_213649.2(SFXN4):c.414+1G>A rs1380193482 0.00001
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter) rs756173225 0.00001
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter) rs1156283736 0.00001
GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1
GRCh37/hg19 12q24.31(chr12:123738221-123738503)
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
GRCh37/hg19 6p21.1(chr6:44274357-44278496)x1
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
GRCh37/hg19 6q25.1(chr6:151757398-151757691)
NC_000006.11:g.(?_5109657)_(5369435_?)dup
NC_000006.11:g.(?_5109657)_(5404954_?)dup
NC_000006.11:g.(?_5109657)_(6320826_?)del
NC_000006.11:g.(?_5172693)_(5459957_?)del
NC_000006.11:g.(?_5216831)_(5431425_?)del
NC_000006.11:g.(?_5260861)_(5369435_?)del
NC_000006.11:g.(?_5339261)_(5404834_?)del
NC_000006.11:g.(?_5368784)_(5545593_?)del
NC_000006.11:g.(?_5368804)_(5369425_?)del
NC_000006.11:g.(?_5368804)_(5369435_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)dup
NC_000006.11:g.(?_5368804)_(5613573_?)dup
NC_000006.11:g.(?_5404755)_(5404954_?)dup
NC_000006.11:g.(?_5404755)_(5431425_?)del
NC_000006.11:g.(?_5404755)_(5545593_?)del
NC_000006.11:g.(?_5431254)_(5431425_?)del
NC_000006.11:g.(?_5431254)_(5431425_?)dup
NC_000006.11:g.(?_5431254)_(5653711_?)del
NC_000006.11:g.(?_5545393)_(5545593_?)dup
NC_000006.11:g.(?_5545403)_(5545583_?)del
NC_000006.11:g.(?_5613382)_(5613573_?)dup
NC_000006.11:g.(?_5771504)_(5771662_?)del
NC_000006.11:g.(?_5771504)_(5771682_?)dup
NC_000006.11:g.(?_5771504)_(6182394_?)dup
NC_000006.11:g.(?_74171568)_(74202085_?)dup
NC_000006.11:g.(?_74171568)_(74210468_?)dup
NC_000006.11:g.(?_74171578)_(74171814_?)del
NC_000006.11:g.(?_74171578)_(74171814_?)dup
NC_000006.11:g.(?_74171578)_(74192363_?)del
NC_000006.11:g.(?_74171578)_(74202095_?)dup
NC_000006.11:g.(?_74175912)_(74176349_?)dup
NC_000006.11:g.(?_74175912)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)dup
NC_000006.11:g.(?_74183068)_(74210458_?)dup
NC_000006.11:g.(?_74189435)_(74192363_?)del
NC_000006.11:g.(?_74191743)_(74192363_?)dup
NC_000006.11:g.(?_74201937)_(74210458_?)del
NC_000006.11:g.(?_74207439)_(74210458_?)del
NC_000006.11:g.5193615_5281296del
NC_000006.11:g.5262296_5395849del133554
NC_000006.12:g.(?_5368551)_(5369202_?)del
NC_000006.12:g.(?_5368551)_(5431192_?)del
NC_000006.12:g.(?_5404522)_(5404721_?)del
NC_000006.12:g.(?_5545160)_(5545360_?)del
NC_000006.12:g.(?_73461845)_(73462081_?)dup
NC_000008.11:g.(79919149_80002998)_(80003181_80030035)del
NC_000011.10:g.(78476711_78486359)del
NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
NC_000012.11:g.(?_123738222)_(123738523_?)dup
NC_000012.11:g.(?_123741340)_(123741578_?)del
NC_000012.12:g.(?_123253665)_(123257041_?)dup
NC_000013.10:g.(?_111268022)_(111329470_?)dup
NC_000013.10:g.(?_111286872)_(111319840_?)dup
NC_000013.10:g.(?_111293884)_(111319830_?)dup
NC_000013.10:g.(?_111293884)_(111358440_?)dup
NC_000013.10:g.(?_111315778)_(111315885_?)del
NC_000013.10:g.(?_111340048)_(111358440_?)dup
NC_000013.10:g.(?_111353765)_(111353922_?)del
NC_000013.11:g.(?_110641517)_(110667493_?)dup
NC_000013.11:g.(?_110641517)_(110677123_?)dup
NC_000013.11:g.(?_110667320)_(110705591_?)dup
NC_000017.10:g.(?_12896135)_(12909316_?)dup
NC_000017.10:g.(?_12896135)_(12921264_?)del
NC_000017.10:g.(?_12896135)_(12921264_?)dup
NC_000017.10:g.(?_12896201)_(12896263_?)dup
NC_000017.10:g.(?_12920159)_(12920458_?)del
NC_000017.11:g.13016942_13016943insGAAAACATTTAAACAGGATAACATGAACAGAACAAGCAACCTTTAACCTAAGAATGA
NC_012920.1:m.8993T>C rs199476133
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9176T>G rs199476135
NC_012920.1:m.9185T>C rs199476138
NM_001083614.2(EARS2):c.*1048del rs750087699
NM_001083614.2(EARS2):c.*1082T>C rs1207271464
NM_001083614.2(EARS2):c.*1435C>A rs886051827
NM_001083614.2(EARS2):c.*155A>G rs886051830
NM_001083614.2(EARS2):c.*15G>C rs200936622
NM_001083614.2(EARS2):c.*1720G>A rs886051826
NM_001083614.2(EARS2):c.*1902dup rs79556186
NM_001083614.2(EARS2):c.*380_*384del rs3071379
NM_001083614.2(EARS2):c.*383GA[1] rs200036419
NM_001083614.2(EARS2):c.*535del rs11300207
NM_001083614.2(EARS2):c.*824G>A rs566896041
NM_001083614.2(EARS2):c.*936T>C rs532554451
NM_001083614.2(EARS2):c.1015G>T (p.Val339Phe)
NM_001083614.2(EARS2):c.102G>T (p.Gly34=) rs1597032670
NM_001083614.2(EARS2):c.1283del (p.Pro428fs) rs1965287605
NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg) rs767133394
NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg) rs774269217
NM_001083614.2(EARS2):c.1465C>T (p.Arg489Trp)
NM_001083614.2(EARS2):c.1488+16G>A
NM_001083614.2(EARS2):c.1488+61del
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) rs201941745
NM_001083614.2(EARS2):c.212del (p.Phe71fs) rs778413603
NM_001083614.2(EARS2):c.236A>T (p.Asp79Val)
NM_001083614.2(EARS2):c.263C>T (p.Ala88Val) rs201929423
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys) rs397514593
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)
NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter)
NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter)
NM_001083614.2(EARS2):c.569G>A (p.Arg190His) rs533072942
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter) rs1445826036
NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln) rs1965392345
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val) rs1555503379
NM_001083614.2(EARS2):c.874G>A (p.Val292Ile) rs199575087
NM_001083614.2(EARS2):c.947C>G (p.Ser316Ter)
NM_001083614.2(EARS2):c.959-15C>T rs554499460
NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro) rs1366954580
NM_001083614.2(EARS2):c.[1279_1280insTCC;502A>G]
NM_001136193.2(FASTKD2):c.*3673G>A rs956286568
NM_001136193.2(FASTKD2):c.-15A>G rs886055505
NM_001136193.2(FASTKD2):c.1156T>C (p.Leu386=)
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001136193.2(FASTKD2):c.1427+20dup rs371981683
NM_001136193.2(FASTKD2):c.1538del (p.Leu513fs) rs1690150292
NM_001136193.2(FASTKD2):c.1796C>T (p.Pro599Leu)
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs) rs1574675683
NM_001136193.2(FASTKD2):c.2014-12_2014-11del rs770341016
NM_001136193.2(FASTKD2):c.259G>A (p.Asp87Asn)
NM_001136193.2(FASTKD2):c.266G>A (p.Gly89Asp)
NM_001136193.2(FASTKD2):c.484G>A (p.Glu162Lys)
NM_001136193.2(FASTKD2):c.496_497del (p.Leu166fs)
NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro) rs1689552727
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs) rs1574663066
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter) rs1559359546
NM_001136193.2(FASTKD2):c.991-2A>G
NM_001172696.1(TSFM):c.[355G>C];[997C>T]
NM_001212.4(C1QBP):c.562_564del (p.Tyr188del) rs755568057
NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp) rs1394499137
NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe) rs1555532484
NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro) rs1555532483
NM_001284401.2(TAMM41):c.329A>G (p.Tyr110Cys) rs2125058823
NM_001284401.2(TAMM41):c.410C>T (p.Pro137Leu)
NM_001284401.2(TAMM41):c.411+1G>T rs780204589
NM_001284401.2(TAMM41):c.709-2A>G
NM_001284401.2(TAMM41):c.806dup (p.Asn269fs) rs768826552
NM_001379210.1(SLC25A26):c.191-1G>T
NM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly) rs869025313
NM_001379210.1(SLC25A26):c.554G>A (p.Cys185Tyr)
NM_001379210.1(SLC25A26):c.596C>T (p.Pro199Leu) rs869025315
NM_001379210.1(SLC25A26):c.719G>T (p.Gly240Val)
NM_001697.3(ATP5PO):c.329-20A>G
NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)
NM_001697.3(ATP5PO):c.87+3A>G rs1987287870
NM_003321.5(TUFM):c.*149G>C rs886051876
NM_003321.5(TUFM):c.*370T>G rs567224368
NM_003321.5(TUFM):c.*433T>C rs527678767
NM_003321.5(TUFM):c.-57TCT[2] rs147419027
NM_003321.5(TUFM):c.-61C>T rs570963386
NM_003321.5(TUFM):c.162del (p.Thr53_Tyr54insTer) rs1057518743
NM_003321.5(TUFM):c.248-13T>G rs775737562
NM_003321.5(TUFM):c.440T>A (p.Leu147His) rs1057518742
NM_003321.5(TUFM):c.502T>A (p.Leu168Ile)
NM_003321.5(TUFM):c.519+14G>C rs767512015
NM_003321.5(TUFM):c.519+15G>A rs758912548
NM_003321.5(TUFM):c.562G>A (p.Ala188Thr) rs1167098942
NM_003321.5(TUFM):c.825C>G (p.Gly275=) rs1596602330
NM_003321.5(TUFM):c.923-9C>A rs763468042
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) rs924099073
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) rs2144178477
NM_004046.6(ATP5F1A):c.1176+1G>C rs1131691396
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His) rs1555695342
NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys) rs587777788
NM_004208.4(AIFM1):c.*49C>T rs1057515766
NM_004208.4(AIFM1):c.-90G>C rs780436043
NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu) rs1603223152
NM_004208.4(AIFM1):c.1164+5G>A
NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del) rs2124651780
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1267G>A (p.Val423Ile)
NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg) rs1057516211
NM_004208.4(AIFM1):c.147G>C (p.Gln49His) rs867606904
NM_004208.4(AIFM1):c.1596T>A (p.Ser532Arg)
NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn) rs999882329
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_004208.4(AIFM1):c.603_605del (p.Arg201del) rs387906500
NM_004208.4(AIFM1):c.697-4C>T rs2030541270
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) rs1603225138
NM_004208.4(AIFM1):c.782-3C>T
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) rs1603224226
NM_004564.3(GATB):c.1198-6del rs11292952
NM_004564.3(GATB):c.1546-5_1546-3del rs2126949198
NM_005035.4(POLRMT):c.1291-9C>A
NM_005035.4(POLRMT):c.1340G>A (p.Arg447Gln)
NM_005035.4(POLRMT):c.1378G>C (p.Val460Leu)
NM_005035.4(POLRMT):c.1627-3C>T
NM_005035.4(POLRMT):c.1832C>T (p.Ser611Phe) rs2144625053
NM_005035.4(POLRMT):c.1923C>G (p.Phe641Leu) rs748687181
NM_005035.4(POLRMT):c.2002A>C (p.Thr668Pro)
NM_005035.4(POLRMT):c.2029G>A (p.Ala677Thr)
NM_005035.4(POLRMT):c.2131G>C (p.Gly711Arg)
NM_005035.4(POLRMT):c.2177G>A (p.Cys726Tyr)
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del) rs748846799
NM_005035.4(POLRMT):c.232G>A (p.Val78Met)
NM_005035.4(POLRMT):c.2498_2506del (p.Leu833_Pro835del)
NM_005035.4(POLRMT):c.2511C>G (p.Gly837=)
NM_005035.4(POLRMT):c.2763+5G>A
NM_005035.4(POLRMT):c.2775C>A (p.Cys925Ter) rs55752843
NM_005035.4(POLRMT):c.2911G>A (p.Ala971Thr)
NM_005035.4(POLRMT):c.3037C>T (p.Arg1013Cys) rs745348188
NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter) rs200224860
NM_005035.4(POLRMT):c.506A>G (p.Lys169Arg)
NM_005035.4(POLRMT):c.578G>A (p.Arg193Gln)
NM_005035.4(POLRMT):c.757C>T (p.Arg253Trp)
NM_005035.4(POLRMT):c.789G>T (p.Met263Ile)
NM_005035.4(POLRMT):c.954-1G>C
NM_005035.4(POLRMT):c.[1696C>T;3578C>T]
NM_005726.6(TSFM):c.*20C>T rs886049732
NM_005726.6(TSFM):c.*491G>A rs1955751830
NM_005726.6(TSFM):c.*558C>T rs1955752539
NM_005726.6(TSFM):c.*561A>C rs886049734
NM_005726.6(TSFM):c.*98A>G rs1955745507
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
NM_005726.6(TSFM):c.12G>T (p.Leu4=) rs773572404
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.231+1GT[6] rs762424912
NM_005726.6(TSFM):c.232-8A>G rs768661125
NM_005726.6(TSFM):c.233C>T (p.Ala78Val) rs886049729
NM_005726.6(TSFM):c.243G>A (p.Trp81Ter)
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.321T>G (p.Ile107Met)
NM_005726.6(TSFM):c.375A>G (p.Thr125=) rs886049730
NM_005726.6(TSFM):c.382del (p.Val128fs)
NM_005726.6(TSFM):c.399del (p.Lys133fs) rs1955600413
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
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.57+4A>G rs587777689
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.748G>T (p.Glu250Ter) rs1955738689
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.830del (p.Gly277fs) rs1190369642
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter) rs2140413092
NM_005932.4(MIPEP):c.1008T>G (p.Phe336Leu) rs1870346695
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val) rs1870163153
NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro) rs1869287041
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) rs114638163
NM_005932.4(MIPEP):c.1848+2T>G
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)
NM_005932.4(MIPEP):c.309G>T (p.Gln103His)
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) rs866158774
NM_005932.4(MIPEP):c.787-51_993-181del
NM_005932.4(MIPEP):c.890G>C (p.Gly297Ala)
NM_006567.5(FARS2):c.1006G>A (p.Asp336Asn) rs1770899112
NM_006567.5(FARS2):c.1012C>T (p.Arg338Cys) rs1167684566
NM_006567.5(FARS2):c.1041C>T (p.Asn347=) rs769518528
NM_006567.5(FARS2):c.1044T>C (p.Ile348=) rs2150500866
NM_006567.5(FARS2):c.1050G>C (p.Gln350His) rs2150500869
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln) rs762302341
NM_006567.5(FARS2):c.1058A>G (p.Lys353Arg) rs2150500894
NM_006567.5(FARS2):c.1065+14C>G rs1445115531
NM_006567.5(FARS2):c.1066-10G>A rs1775278247
NM_006567.5(FARS2):c.1066-12T>A rs1479548485
NM_006567.5(FARS2):c.1066-12T>C
NM_006567.5(FARS2):c.1066-13C>T rs777232308
NM_006567.5(FARS2):c.1066-15C>G rs769574194
NM_006567.5(FARS2):c.1066-15C>T
NM_006567.5(FARS2):c.1066-17T>C
NM_006567.5(FARS2):c.1066-19T>C rs1561752216
NM_006567.5(FARS2):c.1066-5G>T
NM_006567.5(FARS2):c.1066-7_1066-3del rs1775278085
NM_006567.5(FARS2):c.1084G>A (p.Ala362Thr)
NM_006567.5(FARS2):c.1084G>T (p.Ala362Ser) rs1775281586
NM_006567.5(FARS2):c.108T>C (p.Pro36=)
NM_006567.5(FARS2):c.1092C>T (p.Ile364=)
NM_006567.5(FARS2):c.1093A>C (p.Asn365His)
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer) rs1554116357
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)
NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe) rs1204079767
NM_006567.5(FARS2):c.1116C>T (p.Pro372=) rs2150673615
NM_006567.5(FARS2):c.1122G>T (p.Glu374Asp)
NM_006567.5(FARS2):c.1126T>C (p.Tyr376His)
NM_006567.5(FARS2):c.113C>A (p.Ala38Glu)
NM_006567.5(FARS2):c.1145A>G (p.Tyr382Cys) rs1472285290
NM_006567.5(FARS2):c.1154T>C (p.Val385Ala)
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.1168_1173del (p.Gly390_Asp391del)
NM_006567.5(FARS2):c.1181A>G (p.Glu394Gly) rs2150673873
NM_006567.5(FARS2):c.1186G>A (p.Val396Ile) rs1036424702
NM_006567.5(FARS2):c.1193T>A (p.Leu398His)
NM_006567.5(FARS2):c.1199A>G (p.Asp400Gly) rs1775290736
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
NM_006567.5(FARS2):c.1200C>T (p.Asp400=) rs2150673934
NM_006567.5(FARS2):c.1208T>C (p.Val403Ala) rs1775291062
NM_006567.5(FARS2):c.120G>T (p.Glu40Asp) rs761074033
NM_006567.5(FARS2):c.1210C>T (p.His404Tyr) rs367693160
NM_006567.5(FARS2):c.1212T>A (p.His404Gln) rs1582585768
NM_006567.5(FARS2):c.1213C>T (p.Pro405Ser) rs1775291666
NM_006567.5(FARS2):c.1217+4A>G rs2150673989
NM_006567.5(FARS2):c.1217A>G (p.Lys406Arg) rs1775291811
NM_006567.5(FARS2):c.1218-5T>C rs1014916887
NM_006567.5(FARS2):c.1218-73_1289delinsC
NM_006567.5(FARS2):c.1218-7T>C rs2150990567
NM_006567.5(FARS2):c.1218-9T>A rs748697780
NM_006567.5(FARS2):c.1218G>A (p.Lys406=)
NM_006567.5(FARS2):c.1244G>A (p.Arg415His)
NM_006567.5(FARS2):c.1250C>T (p.Thr417Met) rs1000376824
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu) rs202183509
NM_006567.5(FARS2):c.125C>T (p.Ala42Val)
NM_006567.5(FARS2):c.1261A>G (p.Met421Val) rs757022549
NM_006567.5(FARS2):c.1262T>C (p.Met421Thr)
NM_006567.5(FARS2):c.1267C>A (p.Arg423=)
NM_006567.5(FARS2):c.1269G>T (p.Arg423=) rs758019336
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309
NM_006567.5(FARS2):c.126C>T (p.Ala42=)
NM_006567.5(FARS2):c.1271C>G (p.Thr424Ser)
NM_006567.5(FARS2):c.1289T>C (p.Val430Ala) rs1763040456
NM_006567.5(FARS2):c.1293G>A (p.Arg431=) rs749743875
NM_006567.5(FARS2):c.1306G>A (p.Ala436Thr) rs1195724097
NM_006567.5(FARS2):c.1312C>A (p.Gln438Lys)
NM_006567.5(FARS2):c.131A>G (p.Gln44Arg) rs1453046888
NM_006567.5(FARS2):c.1344G>A (p.Glu448=) rs945267016
NM_006567.5(FARS2):c.1345G>C (p.Gly449Arg)
NM_006567.5(FARS2):c.138T>C (p.Ala46=) rs2127643010
NM_006567.5(FARS2):c.139C>T (p.Pro47Ser) rs201710092
NM_006567.5(FARS2):c.141A>G (p.Pro47=)
NM_006567.5(FARS2):c.146G>A (p.Ser49Asn) rs1758836861
NM_006567.5(FARS2):c.150G>A (p.Val50=) rs1448847094
NM_006567.5(FARS2):c.151G>C (p.Val51Leu)
NM_006567.5(FARS2):c.172T>C (p.Tyr58His) rs2127643060
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
NM_006567.5(FARS2):c.17T>C (p.Leu6Pro) rs1758826838
NM_006567.5(FARS2):c.183C>G (p.Asp61Glu) rs73718082
NM_006567.5(FARS2):c.184G>T (p.Asp62Tyr) rs780467389
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006567.5(FARS2):c.201C>G (p.Thr67=) rs1357700939
NM_006567.5(FARS2):c.204G>C (p.Arg68=)
NM_006567.5(FARS2):c.206A>G (p.Lys69Arg)
NM_006567.5(FARS2):c.207G>A (p.Lys69=)
NM_006567.5(FARS2):c.20G>A (p.Arg7Lys) rs2127642730
NM_006567.5(FARS2):c.230A>T (p.Asn77Ile) rs1758842999
NM_006567.5(FARS2):c.231C>T (p.Asn77=) rs777130213
NM_006567.5(FARS2):c.234G>T (p.Leu78=)
NM_006567.5(FARS2):c.251A>C (p.His84Pro) rs1758844499
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.261G>C (p.Trp87Cys)
NM_006567.5(FARS2):c.262C>T (p.Leu88=)
NM_006567.5(FARS2):c.284A>G (p.Glu95Gly)
NM_006567.5(FARS2):c.28G>A (p.Ala10Thr) rs753993545
NM_006567.5(FARS2):c.28G>T (p.Ala10Ser) rs753993545
NM_006567.5(FARS2):c.294C>T (p.Tyr98=)
NM_006567.5(FARS2):c.296A>G (p.Lys99Arg)
NM_006567.5(FARS2):c.297G>T (p.Lys99Asn) rs2127643451
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.300G>A (p.Gln100=)
NM_006567.5(FARS2):c.308G>C (p.Gly103Ala) rs752460037
NM_006567.5(FARS2):c.311G>A (p.Arg104His)
NM_006567.5(FARS2):c.317G>T (p.Gly106Val)
NM_006567.5(FARS2):c.327G>A (p.Leu109=)
NM_006567.5(FARS2):c.333G>C (p.Ser111=)
NM_006567.5(FARS2):c.336C>T (p.Val112=) rs2127643553
NM_006567.5(FARS2):c.342C>T (p.Asp114=) rs2127643581
NM_006567.5(FARS2):c.354A>G (p.Pro118=) rs1554169338
NM_006567.5(FARS2):c.362C>T (p.Thr121Met) rs551537911
NM_006567.5(FARS2):c.364A>G (p.Thr122Ala) rs1758855175
NM_006567.5(FARS2):c.378T>C (p.Phe126=) rs2127643700
NM_006567.5(FARS2):c.382A>G (p.Ser128Gly) rs1758856343
NM_006567.5(FARS2):c.382A>T (p.Ser128Cys) rs1758856343
NM_006567.5(FARS2):c.388C>T (p.Leu130Phe)
NM_006567.5(FARS2):c.389T>G (p.Leu130Arg)
NM_006567.5(FARS2):c.390C>A (p.Leu130=) rs767424737
NM_006567.5(FARS2):c.3G>T (p.Met1Ile) rs2127642660
NM_006567.5(FARS2):c.403C>G (p.His135Asp) rs1554169353
NM_006567.5(FARS2):c.407C>T (p.Pro136Leu) rs199863563
NM_006567.5(FARS2):c.410G>C (p.Ser137Thr) rs1758859644
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.425del (p.Asp142fs) rs2127643855
NM_006567.5(FARS2):c.426C>A (p.Asp142Glu) rs1561990280
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.441T>A (p.Asn147Lys) rs1758861816
NM_006567.5(FARS2):c.442C>T (p.Arg148Trp)
NM_006567.5(FARS2):c.445A>T (p.Thr149Ser)
NM_006567.5(FARS2):c.450C>T (p.His150=) rs2127643912
NM_006567.5(FARS2):c.453G>A (p.Met151Ile)
NM_006567.5(FARS2):c.455T>G (p.Leu152Arg) rs1758863348
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006567.5(FARS2):c.462G>A (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.474A>T (p.Ala158=)
NM_006567.5(FARS2):c.475C>T (p.His159Tyr)
NM_006567.5(FARS2):c.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.486C>T (p.Asp162=)
NM_006567.5(FARS2):c.492G>A (p.Leu164=) rs374120685
NM_006567.5(FARS2):c.497dup (p.Leu168fs)
NM_006567.5(FARS2):c.498G>A (p.Ala166=)
NM_006567.5(FARS2):c.508G>A (p.Ala170Thr)
NM_006567.5(FARS2):c.513C>T (p.Phe171=)
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392
NM_006567.5(FARS2):c.528T>C (p.Asp176=)
NM_006567.5(FARS2):c.530T>A (p.Val177Asp) rs1561990552
NM_006567.5(FARS2):c.546G>A (p.Gln182=) rs1581905336
NM_006567.5(FARS2):c.555C>T (p.Ser185=)
NM_006567.5(FARS2):c.559C>G (p.His187Asp) rs1758874173
NM_006567.5(FARS2):c.563A>G (p.Tyr188Cys) rs1554169419
NM_006567.5(FARS2):c.575A>C (p.His192Pro) rs1758876342
NM_006567.5(FARS2):c.578A>G (p.Gln193Arg) rs1561990721
NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)
NM_006567.5(FARS2):c.597C>G (p.Leu199=)
NM_006567.5(FARS2):c.600C>T (p.Phe200=) rs1758879374
NM_006567.5(FARS2):c.612+19C>A rs2127644483
NM_006567.5(FARS2):c.613-10T>G
NM_006567.5(FARS2):c.613-11T>C rs1562015282
NM_006567.5(FARS2):c.613-13T>C
NM_006567.5(FARS2):c.613-15C>A
NM_006567.5(FARS2):c.613-18T>C
NM_006567.5(FARS2):c.613-2A>G
NM_006567.5(FARS2):c.613-4A>G rs1554181180
NM_006567.5(FARS2):c.613-9G>C
NM_006567.5(FARS2):c.619G>T (p.Ala207Ser)
NM_006567.5(FARS2):c.626T>C (p.Ile209Thr) rs1270173250
NM_006567.5(FARS2):c.629A>G (p.Lys210Arg) rs751662656
NM_006567.5(FARS2):c.630G>C (p.Lys210Asn) rs1761441511
NM_006567.5(FARS2):c.631G>A (p.Asp211Asn)
NM_006567.5(FARS2):c.634G>A (p.Gly212Arg) rs2127718498
NM_006567.5(FARS2):c.651C>G (p.Leu217=)
NM_006567.5(FARS2):c.655G>C (p.Glu219Gln) rs1562015386
NM_006567.5(FARS2):c.668G>C (p.Arg223Pro) rs770650914
NM_006567.5(FARS2):c.673G>A (p.Ala225Thr) rs1269010952
NM_006567.5(FARS2):c.68T>A (p.Ile23Asn) rs1348616908
NM_006567.5(FARS2):c.694A>G (p.Thr232Ala) rs201092264
NM_006567.5(FARS2):c.694del (p.Thr232fs) rs2127718679
NM_006567.5(FARS2):c.698T>C (p.Met233Thr) rs2127718699
NM_006567.5(FARS2):c.700G>A (p.Glu234Lys) rs1562015500
NM_006567.5(FARS2):c.726T>C (p.Asp242=)
NM_006567.5(FARS2):c.738G>A (p.Thr246=)
NM_006567.5(FARS2):c.748C>T (p.Leu250Phe) rs1562015600
NM_006567.5(FARS2):c.750C>A (p.Leu250=) rs951916099
NM_006567.5(FARS2):c.750C>T (p.Leu250=)
NM_006567.5(FARS2):c.768A>G (p.Gly256=)
NM_006567.5(FARS2):c.772+11A>T
NM_006567.5(FARS2):c.772+20T>C
NM_006567.5(FARS2):c.772+4A>C rs1368789274
NM_006567.5(FARS2):c.772+4A>G
NM_006567.5(FARS2):c.772+7G>A
NM_006567.5(FARS2):c.773-17C>T
NM_006567.5(FARS2):c.773-7T>C
NM_006567.5(FARS2):c.773-9A>C
NM_006567.5(FARS2):c.781A>T (p.Ile261Leu) rs201927340
NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006567.5(FARS2):c.804C>T (p.Phe268=)
NM_006567.5(FARS2):c.815A>C (p.His272Pro) rs2127767829
NM_006567.5(FARS2):c.821_824del (p.Ser274fs)
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_006567.5(FARS2):c.846T>C (p.His282=)
NM_006567.5(FARS2):c.84G>A (p.Gln28=) rs2127642856
NM_006567.5(FARS2):c.852A>C (p.Glu284Asp) rs772624228
NM_006567.5(FARS2):c.852A>G (p.Glu284=) rs772624228
NM_006567.5(FARS2):c.858G>A (p.Leu286=) rs1763139178
NM_006567.5(FARS2):c.876G>A (p.Gly292=)
NM_006567.5(FARS2):c.877del (p.Gly292_Val293insTer) rs2127767975
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter) rs1414534588
NM_006567.5(FARS2):c.899A>G (p.Asn300Ser) rs863223959
NM_006567.5(FARS2):c.902C>T (p.Ser301Leu)
NM_006567.5(FARS2):c.904+11A>T
NM_006567.5(FARS2):c.904+16A>G
NM_006567.5(FARS2):c.904+16del rs773225879
NM_006567.5(FARS2):c.904+3A>G rs1034582028
NM_006567.5(FARS2):c.904+9G>T rs201412926
NM_006567.5(FARS2):c.905-1G>A rs1298860043
NM_006567.5(FARS2):c.905-20A>C
NM_006567.5(FARS2):c.906T>G (p.Ala302=) rs1770885830
NM_006567.5(FARS2):c.907G>A (p.Gly303Ser) rs1770886046
NM_006567.5(FARS2):c.914A>G (p.Gln305Arg) rs543297094
NM_006567.5(FARS2):c.91G>A (p.Ala31Thr) rs556195502
NM_006567.5(FARS2):c.922A>G (p.Ile308Val)
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)
NM_006567.5(FARS2):c.933T>C (p.Ala311=) rs1770889954
NM_006567.5(FARS2):c.936T>C (p.Phe312=)
NM_006567.5(FARS2):c.945A>G (p.Gly315=) rs1057522221
NM_006567.5(FARS2):c.946_950del (p.Leu316fs) rs1322974029
NM_006567.5(FARS2):c.94T>A (p.Trp32Arg) rs1259085373
NM_006567.5(FARS2):c.955C>A (p.Leu319Ile) rs772822506
NM_006567.5(FARS2):c.955C>T (p.Leu319=) rs772822506
NM_006567.5(FARS2):c.958G>A (p.Ala320Thr) rs767870566
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.985A>G (p.Ile329Val) rs1770896163
NM_006567.5(FARS2):c.988C>A (p.Arg330Ser) rs757442324
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter) rs753467517
NM_006567.5(FARS2):c.999G>T (p.Trp333Cys)
NM_006567.5:c.(?_-4)_(612+185_613-1)del
NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) rs387906929
NM_007208.4(MRPL3):c.49del (p.Arg17fs) rs1582724664
NM_007208.4(MRPL3):c.793T>C (p.Tyr265His)
NM_012123.4(MTO1):c.*7A>G
NM_012123.4(MTO1):c.-4C>T
NM_012123.4(MTO1):c.1000T>A (p.Leu334Met)
NM_012123.4(MTO1):c.1002G>A (p.Leu334=) rs2150035828
NM_012123.4(MTO1):c.1013G>A (p.Gly338Glu) rs1771440211
NM_012123.4(MTO1):c.103C>G (p.Pro35Ala)
NM_012123.4(MTO1):c.1044G>A (p.Gly348=)
NM_012123.4(MTO1):c.1046T>C (p.Leu349Ser)
NM_012123.4(MTO1):c.1047A>G (p.Leu349=)
NM_012123.4(MTO1):c.104C>T (p.Pro35Leu) rs777113004
NM_012123.4(MTO1):c.1059A>G (p.Leu353=) rs201656868
NM_012123.4(MTO1):c.105G>A (p.Pro35=)
NM_012123.4(MTO1):c.1062A>C (p.Pro354=) rs1060504378
NM_012123.4(MTO1):c.1066G>A (p.Glu356Lys) rs1012440521
NM_012123.4(MTO1):c.1089A>C (p.Thr363=)
NM_012123.4(MTO1):c.108C>G (p.His36Gln) rs1454178328
NM_012123.4(MTO1):c.1090T>A (p.Cys364Ser) rs755211627
NM_012123.4(MTO1):c.1091G>A (p.Cys364Tyr) rs2150035920
NM_012123.4(MTO1):c.10T>C (p.Phe4Leu)
NM_012123.4(MTO1):c.1100G>T (p.Gly367Val) rs1771444030
NM_012123.4(MTO1):c.1104G>A (p.Leu368=)
NM_012123.4(MTO1):c.1107G>A (p.Glu369=)
NM_012123.4(MTO1):c.1117G>A (p.Val373Met)
NM_012123.4(MTO1):c.111C>T (p.Phe37=)
NM_012123.4(MTO1):c.1126C>A (p.Pro376Thr)
NM_012123.4(MTO1):c.1129+12C>T rs778706192
NM_012123.4(MTO1):c.1129+13A>C
NM_012123.4(MTO1):c.1129+15A>G
NM_012123.4(MTO1):c.1129+17G>A
NM_012123.4(MTO1):c.1129+209C>T
NM_012123.4(MTO1):c.1129+8_1129+10del rs758510777
NM_012123.4(MTO1):c.1130-20T>C
NM_012123.4(MTO1):c.1135G>A (p.Gly379Ser) rs746493463
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
NM_012123.4(MTO1):c.1141C>G (p.Gln381Glu) rs1771463297
NM_012123.4(MTO1):c.114C>T (p.Asp38=)
NM_012123.4(MTO1):c.115G>A (p.Val39Met) rs766653154
NM_012123.4(MTO1):c.1160C>T (p.Pro387Leu)
NM_012123.4(MTO1):c.1170C>T (p.Ile390=)
NM_012123.4(MTO1):c.1177T>C (p.Ser393Pro) rs1172201357
NM_012123.4(MTO1):c.1178C>T (p.Ser393Phe)
NM_012123.4(MTO1):c.1189C>A (p.His397Asn) rs1771465246
NM_012123.4(MTO1):c.1198C>G (p.Gln400Glu)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1225A>G (p.Asn409Asp)
NM_012123.4(MTO1):c.122T>G (p.Val41Gly) rs1770831602
NM_012123.4(MTO1):c.1230C>T (p.Gly410=) rs2150036324
NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile) rs398122419
NM_012123.4(MTO1):c.123C>G (p.Val41=)
NM_012123.4(MTO1):c.1246del (p.Glu416fs) rs1250411982
NM_012123.4(MTO1):c.1257T>C (p.Ala419=)
NM_012123.4(MTO1):c.1260+191G>A rs1241914180
NM_012123.4(MTO1):c.1260+193C>A rs1554149118
NM_012123.4(MTO1):c.1260+9_1260+13del rs935181583
NM_012123.4(MTO1):c.1261-12G>A
NM_012123.4(MTO1):c.1261-12G>T
NM_012123.4(MTO1):c.1261-18A>G
NM_012123.4(MTO1):c.1261-4G>C
NM_012123.4(MTO1):c.1268T>C (p.Ile423Thr)
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
NM_012123.4(MTO1):c.1287T>C (p.Ser429=)
NM_012123.4(MTO1):c.1288C>G (p.Leu430Val) rs2150037092
NM_012123.4(MTO1):c.128G>T (p.Gly43Val) rs2150024439
NM_012123.4(MTO1):c.1290T>C (p.Leu430=) rs148227552
NM_012123.4(MTO1):c.1293G>A (p.Arg431=)
NM_012123.4(MTO1):c.1294G>A (p.Val432Ile) rs774315947
NM_012123.4(MTO1):c.1298G>A (p.Ser433Asn)
NM_012123.4(MTO1):c.1299T>C (p.Ser433=)
NM_012123.4(MTO1):c.129T>C (p.Gly43=)
NM_012123.4(MTO1):c.12C>T (p.Phe4=)
NM_012123.4(MTO1):c.1311C>G (p.Pro437=) rs763521200
NM_012123.4(MTO1):c.1314T>C (p.Phe438=) rs2150037121
NM_012123.4(MTO1):c.1317G>C (p.Val439=)
NM_012123.4(MTO1):c.1323C>T (p.Ser441=)
NM_012123.4(MTO1):c.1327A>T (p.Thr443Ser)
NM_012123.4(MTO1):c.1347C>G (p.Val449=)
NM_012123.4(MTO1):c.1353T>C (p.Ile451=) rs557440944
NM_012123.4(MTO1):c.1353T>G (p.Ile451Met)
NM_012123.4(MTO1):c.135A>G (p.Gly45=)
NM_012123.4(MTO1):c.1362C>T (p.Leu454=)
NM_012123.4(MTO1):c.1372G>A (p.Gly458Ser)
NM_012123.4(MTO1):c.137dup (p.His46fs)
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_012123.4(MTO1):c.1393A>G (p.Met465Val) rs1000432861
NM_012123.4(MTO1):c.1406G>A (p.Arg469Gln) rs750141214
NM_012123.4(MTO1):c.1413G>T (p.Glu471Asp)
NM_012123.4(MTO1):c.1417C>T (p.Arg473Cys)
NM_012123.4(MTO1):c.1421dup (p.Leu474fs)
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) rs1033653237
NM_012123.4(MTO1):c.142G>A (p.Gly48Arg)
NM_012123.4(MTO1):c.1431C>T (p.Arg477=)
NM_012123.4(MTO1):c.1434T>C (p.Pro478=)
NM_012123.4(MTO1):c.1436A>G (p.Asp479Gly)
NM_012123.4(MTO1):c.1440T>C (p.Asn480=)
NM_012123.4(MTO1):c.1443T>C (p.Ala481=) rs2150037243
NM_012123.4(MTO1):c.1446C>G (p.Asp482Glu) rs2150037248
NM_012123.4(MTO1):c.1451G>A (p.Arg484Gln)
NM_012123.4(MTO1):c.1455C>T (p.Leu485=)
NM_012123.4(MTO1):c.1458A>G (p.Thr486=) rs1771522951
NM_012123.4(MTO1):c.1459C>T (p.Leu487=)
NM_012123.4(MTO1):c.1465+15A>T
NM_012123.4(MTO1):c.1465+18C>T
NM_012123.4(MTO1):c.1465+19C>T
NM_012123.4(MTO1):c.1466-10C>G
NM_012123.4(MTO1):c.1466-12T>G
NM_012123.4(MTO1):c.1466-17C>T
NM_012123.4(MTO1):c.1466-17_1466-16del rs751535994
NM_012123.4(MTO1):c.1466-4C>G
NM_012123.4(MTO1):c.1466-6C>G
NM_012123.4(MTO1):c.146C>G (p.Thr49Ser) rs753822562
NM_012123.4(MTO1):c.1477G>A (p.Ala493Thr)
NM_012123.4(MTO1):c.147T>C (p.Thr49=)
NM_012123.4(MTO1):c.1483T>C (p.Cys495Arg)
NM_012123.4(MTO1):c.1485T>C (p.Cys495=)
NM_012123.4(MTO1):c.1491C>T (p.Ser497=)
NM_012123.4(MTO1):c.1493A>G (p.Gln498Arg)
NM_012123.4(MTO1):c.1495C>T (p.Gln499Ter)
NM_012123.4(MTO1):c.1497A>G (p.Gln499=)
NM_012123.4(MTO1):c.1499G>A (p.Arg500Gln) rs770464521
NM_012123.4(MTO1):c.1499G>C (p.Arg500Pro)
NM_012123.4(MTO1):c.1503T>C (p.Tyr501=)
NM_012123.4(MTO1):c.1504G>A (p.Glu502Lys)
NM_012123.4(MTO1):c.1512T>A (p.Ala504=)
NM_012123.4(MTO1):c.152C>T (p.Ala51Val)
NM_012123.4(MTO1):c.1533_1536del (p.Glu512fs)
NM_012123.4(MTO1):c.153_174del (p.Thr53fs) rs1770832882
NM_012123.4(MTO1):c.1548T>C (p.Ser516=)
NM_012123.4(MTO1):c.1561A>G (p.Ile521Val)
NM_012123.4(MTO1):c.1563T>G (p.Ile521Met) rs2150037480
NM_012123.4(MTO1):c.1566G>A (p.Glu522=)
NM_012123.4(MTO1):c.1570T>C (p.Leu524=)
NM_012123.4(MTO1):c.1574G>C (p.Ser525Thr)
NM_012123.4(MTO1):c.1585A>C (p.Lys529Gln)
NM_012123.4(MTO1):c.1591T>A (p.Leu531Ile)
NM_012123.4(MTO1):c.159C>G (p.Thr53=) rs761813265
NM_012123.4(MTO1):c.159C>T (p.Thr53=)
NM_012123.4(MTO1):c.1616C>A (p.Thr539Asn)
NM_012123.4(MTO1):c.1619G>A (p.Ser540Asn) rs773811434
NM_012123.4(MTO1):c.1619G>T (p.Ser540Ile) rs773811434
NM_012123.4(MTO1):c.1621A>G (p.Arg541Gly)
NM_012123.4(MTO1):c.1629G>T (p.Leu543=)
NM_012123.4(MTO1):c.1637+14A>G
NM_012123.4(MTO1):c.1637+3A>G
NM_012123.4(MTO1):c.1637G>C (p.Arg546Thr)
NM_012123.4(MTO1):c.1638-10A>G
NM_012123.4(MTO1):c.1638-14T>C
NM_012123.4(MTO1):c.1638-15_1638-14del
NM_012123.4(MTO1):c.1638-16T>G
NM_012123.4(MTO1):c.1638-20A>C
NM_012123.4(MTO1):c.1639G>A (p.Ala547Thr) rs1771829402
NM_012123.4(MTO1):c.1640C>T (p.Ala547Val) rs751843868
NM_012123.4(MTO1):c.1643dup (p.Asp549fs)
NM_012123.4(MTO1):c.1644C>G (p.Leu548=)
NM_012123.4(MTO1):c.1644C>T (p.Leu548=)
NM_012123.4(MTO1):c.1645G>A (p.Asp549Asn)
NM_012123.4(MTO1):c.1648_1650dup (p.Val550dup) rs2150042260
NM_012123.4(MTO1):c.1658A>G (p.Tyr553Cys)
NM_012123.4(MTO1):c.165C>G (p.Ala55=)
NM_012123.4(MTO1):c.166G>A (p.Ala56Thr) rs1770833571
NM_012123.4(MTO1):c.1672A>G (p.Met558Val)
NM_012123.4(MTO1):c.1676A>G (p.Asp559Gly)
NM_012123.4(MTO1):c.1680A>C (p.Ser560=) rs1215865193
NM_012123.4(MTO1):c.1680A>G (p.Ser560=)
NM_012123.4(MTO1):c.1687A>G (p.Lys563Glu) rs577810557
NM_012123.4(MTO1):c.1692del (p.Val565fs) rs2150042284
NM_012123.4(MTO1):c.1720A>G (p.Lys574Glu) rs2150042299
NM_012123.4(MTO1):c.1725T>G (p.Cys575Trp) rs1771835062
NM_012123.4(MTO1):c.1750dup (p.Ile584fs) rs2150042308
NM_012123.4(MTO1):c.1756+16del rs1305339840
NM_012123.4(MTO1):c.1756+17G>A rs1393237455
NM_012123.4(MTO1):c.1756+19C>T
NM_012123.4(MTO1):c.1756+2T>C
NM_012123.4(MTO1):c.1756+5A>T
NM_012123.4(MTO1):c.1757-11T>C
NM_012123.4(MTO1):c.1757-14A>T
NM_012123.4(MTO1):c.1757-20A>T
NM_012123.4(MTO1):c.1759A>G (p.Thr587Ala)
NM_012123.4(MTO1):c.1777T>C (p.Phe593Leu) rs2150044944
NM_012123.4(MTO1):c.1780C>T (p.His594Tyr) rs2150044948
NM_012123.4(MTO1):c.1785A>G (p.Gln595=) rs147990749
NM_012123.4(MTO1):c.1789C>T (p.Gln597Ter) rs2150044955
NM_012123.4(MTO1):c.1790A>C (p.Gln597Pro) rs2150044958
NM_012123.4(MTO1):c.1791A>G (p.Gln597=)
NM_012123.4(MTO1):c.1799A>G (p.Lys600Arg)
NM_012123.4(MTO1):c.1814A>G (p.Asp605Gly)
NM_012123.4(MTO1):c.1815T>C (p.Asp605=)
NM_012123.4(MTO1):c.1822del (p.Leu608fs) rs1561954433
NM_012123.4(MTO1):c.1827A>G (p.Gln609=) rs1554150837
NM_012123.4(MTO1):c.1833A>C (p.Pro611=)
NM_012123.4(MTO1):c.183G>T (p.Arg61=) rs1582666277
NM_012123.4(MTO1):c.1840C>G (p.Leu614Val)
NM_012123.4(MTO1):c.1840C>T (p.Leu614=) rs2150044988
NM_012123.4(MTO1):c.1848T>G (p.Tyr616Ter) rs2150044996
NM_012123.4(MTO1):c.1849T>A (p.Leu617Met)
NM_012123.4(MTO1):c.1849T>G (p.Leu617Val)
NM_012123.4(MTO1):c.1858dup (p.Arg620fs) rs397518449
NM_012123.4(MTO1):c.1860G>A (p.Arg620=)
NM_012123.4(MTO1):c.1866G>C (p.Val622=)
NM_012123.4(MTO1):c.1868C>T (p.Ser623Phe) rs1772032922
NM_012123.4(MTO1):c.187C>T (p.Leu63=)
NM_012123.4(MTO1):c.1882G>A (p.Val628Ile) rs1772033614
NM_012123.4(MTO1):c.1886G>T (p.Arg629Leu) rs894440027
NM_012123.4(MTO1):c.1896del (p.His633fs) rs2150045040
NM_012123.4(MTO1):c.1906C>T (p.Arg636Cys) rs1582701948
NM_012123.4(MTO1):c.1907G>A (p.Arg636His) rs751695333
NM_012123.4(MTO1):c.1910C>T (p.Pro637Leu)
NM_012123.4(MTO1):c.1911A>C (p.Pro637=)
NM_012123.4(MTO1):c.1911A>G (p.Pro637=)
NM_012123.4(MTO1):c.1916C>T (p.Thr639Met)
NM_012123.4(MTO1):c.1917+10T>C
NM_012123.4(MTO1):c.1917+11A>G rs2150045068
NM_012123.4(MTO1):c.1917+17_1917+19del rs760158320
NM_012123.4(MTO1):c.1917+2_1917+3insGAGAAAGTACATTTTAGTCGTCCACAGACGGT rs1207289132
NM_012123.4(MTO1):c.1918-14G>T rs2150046222
NM_012123.4(MTO1):c.1918-15_1918-13del rs2150046218
NM_012123.4(MTO1):c.1918-19T>C rs1554151114
NM_012123.4(MTO1):c.1918-20del
NM_012123.4(MTO1):c.1918-6_1918-5insCTAAAT
NM_012123.4(MTO1):c.1920C>G (p.Ile640Met) rs201198672
NM_012123.4(MTO1):c.1920C>T (p.Ile640=)
NM_012123.4(MTO1):c.1926T>A (p.Ala642=)
NM_012123.4(MTO1):c.1941C>T (p.Pro647=)
NM_012123.4(MTO1):c.1942G>A (p.Gly648Arg)
NM_012123.4(MTO1):c.1943G>A (p.Gly648Glu)
NM_012123.4(MTO1):c.1949C>T (p.Thr650Ile)
NM_012123.4(MTO1):c.1963A>G (p.Ile655Val)
NM_012123.4(MTO1):c.1966A>C (p.Asn656His)
NM_012123.4(MTO1):c.1986G>A (p.Lys662=)
NM_012123.4(MTO1):c.1989C>T (p.Thr663=)
NM_012123.4(MTO1):c.1994A>G (p.Gln665Arg)
NM_012123.4(MTO1):c.1997G>A (p.Arg666Gln)
NM_012123.4(MTO1):c.1997G>C (p.Arg666Pro) rs1772134598
NM_012123.4(MTO1):c.1999A>C (p.Arg667=)
NM_012123.4(MTO1):c.2026A>G (p.Lys676Glu)
NM_012123.4(MTO1):c.202C>T (p.Arg68Cys)
NM_012123.4(MTO1):c.2035C>G (p.Gln679Glu) rs927196297
NM_012123.4(MTO1):c.2038T>C (p.Tyr680His)
NM_012123.4(MTO1):c.203G>A (p.Arg68His) rs1251952926
NM_012123.4(MTO1):c.2062_2067del (p.Gln688_Glu689del)
NM_012123.4(MTO1):c.2064dup (p.Glu689fs)
NM_012123.4(MTO1):c.2065G>A (p.Glu689Lys)
NM_012123.4(MTO1):c.2070_2073del (p.Arg690fs)
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs) rs759445569
NM_012123.4(MTO1):c.216C>G (p.Ile72Met)
NM_012123.4(MTO1):c.216C>T (p.Ile72=)
NM_012123.4(MTO1):c.217+19G>A
NM_012123.4(MTO1):c.217+20T>G
NM_012123.4(MTO1):c.218-11A>G rs1403769450
NM_012123.4(MTO1):c.218-13C>A
NM_012123.4(MTO1):c.218-14T>G
NM_012123.4(MTO1):c.218-15G>T
NM_012123.4(MTO1):c.218-16_218-15insA
NM_012123.4(MTO1):c.223A>G (p.Met75Val)
NM_012123.4(MTO1):c.22G>T (p.Gly8Cys) rs2150024316
NM_012123.4(MTO1):c.235C>A (p.Pro79Thr) rs2150027197
NM_012123.4(MTO1):c.238T>C (p.Ser80Pro) rs1408974756
NM_012123.4(MTO1):c.239_242del (p.Ser80fs)
NM_012123.4(MTO1):c.240C>T (p.Ser80=)
NM_012123.4(MTO1):c.242T>G (p.Phe81Cys)
NM_012123.4(MTO1):c.25C>G (p.Arg9Gly) rs763245762
NM_012123.4(MTO1):c.260G>A (p.Gly87Glu) rs751029705
NM_012123.4(MTO1):c.270G>A (p.Met90Ile)
NM_012123.4(MTO1):c.273G>A (p.Arg91=)
NM_012123.4(MTO1):c.276A>G (p.Glu92=) rs755181300
NM_012123.4(MTO1):c.277del (p.Glu92_Val93insTer)
NM_012123.4(MTO1):c.27T>C (p.Arg9=) rs1327873376
NM_012123.4(MTO1):c.282T>C (p.Asp94=)
NM_012123.4(MTO1):c.285C>T (p.Ala95=)
NM_012123.4(MTO1):c.300T>C (p.Cys100=)
NM_012123.4(MTO1):c.301T>C (p.Ser101Pro) rs1235731820
NM_012123.4(MTO1):c.305G>A (p.Arg102His)
NM_012123.4(MTO1):c.312T>C (p.Cys104=)
NM_012123.4(MTO1):c.332A>G (p.Tyr111Cys)
NM_012123.4(MTO1):c.33C>T (p.Val11=) rs1430945976
NM_012123.4(MTO1):c.344del (p.Asn115fs) rs1297994959
NM_012123.4(MTO1):c.345C>G (p.Asn115Lys)
NM_012123.4(MTO1):c.366G>A (p.Val122=)
NM_012123.4(MTO1):c.36G>T (p.Ala12=)
NM_012123.4(MTO1):c.375G>A (p.Leu125=)
NM_012123.4(MTO1):c.377G>C (p.Arg126Thr)
NM_012123.4(MTO1):c.384G>A (p.Gln128=)
NM_012123.4(MTO1):c.38T>C (p.Val13Ala)
NM_012123.4(MTO1):c.390T>C (p.Asp130=)
NM_012123.4(MTO1):c.392G>A (p.Arg131Lys)
NM_012123.4(MTO1):c.399C>G (p.Leu133=) rs994257546
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer) rs769532203
NM_012123.4(MTO1):c.408G>A (p.Gln136=)
NM_012123.4(MTO1):c.413T>C (p.Met138Thr)
NM_012123.4(MTO1):c.413del (p.Met138fs)
NM_012123.4(MTO1):c.416A>C (p.Gln139Pro)
NM_012123.4(MTO1):c.417+12G>C
NM_012123.4(MTO1):c.417+14A>G
NM_012123.4(MTO1):c.417+17A>G
NM_012123.4(MTO1):c.417+7A>C
NM_012123.4(MTO1):c.417+7A>G rs199515593
NM_012123.4(MTO1):c.417+8T>C rs1367881712
NM_012123.4(MTO1):c.417+8T>G rs1367881712
NM_012123.4(MTO1):c.418-13T>A
NM_012123.4(MTO1):c.418-15A>G rs2150027379
NM_012123.4(MTO1):c.429_444del (p.Asn144fs) rs2150027394
NM_012123.4(MTO1):c.447T>G (p.Thr149=)
NM_012123.4(MTO1):c.451C>G (p.Gln151Glu)
NM_012123.4(MTO1):c.453G>A (p.Gln151=)
NM_012123.4(MTO1):c.458G>A (p.Gly153Glu)
NM_012123.4(MTO1):c.45C>T (p.Phe15=)
NM_012123.4(MTO1):c.464T>C (p.Val155Ala)
NM_012123.4(MTO1):c.469G>T (p.Asp157Tyr)
NM_012123.4(MTO1):c.478_480del (p.Leu160del) rs761485089
NM_012123.4(MTO1):c.496G>A (p.Glu166Lys) rs989384303
NM_012123.4(MTO1):c.49A>C (p.Lys17Gln)
NM_012123.4(MTO1):c.502A>T (p.Thr168Ser)
NM_012123.4(MTO1):c.515G>A (p.Arg172His)
NM_012123.4(MTO1):c.515G>C (p.Arg172Pro)
NM_012123.4(MTO1):c.525_526del (p.Val176fs)
NM_012123.4(MTO1):c.530T>C (p.Val177Ala) rs1771005240
NM_012123.4(MTO1):c.535+17G>A
NM_012123.4(MTO1):c.535+1G>A
NM_012123.4(MTO1):c.535+4C>T
NM_012123.4(MTO1):c.535+5G>T rs1405997705
NM_012123.4(MTO1):c.536-10T>G
NM_012123.4(MTO1):c.536-11T>G
NM_012123.4(MTO1):c.536-19_536-18del rs2150031332
NM_012123.4(MTO1):c.536-3dup
NM_012123.4(MTO1):c.536-4T>G
NM_012123.4(MTO1):c.536-9G>A
NM_012123.4(MTO1):c.549A>C (p.Thr183=)
NM_012123.4(MTO1):c.567_569del (p.Ile190del)
NM_012123.4(MTO1):c.598A>C (p.Met200Leu)
NM_012123.4(MTO1):c.59T>C (p.Phe20Ser) rs1770828389
NM_012123.4(MTO1):c.605T>C (p.Val202Ala) rs1206431304
NM_012123.4(MTO1):c.60_61delinsAA (p.Phe20_Pro21delinsLeuThr) rs2150024353
NM_012123.4(MTO1):c.612A>C (p.Gly204=)
NM_012123.4(MTO1):c.613T>C (p.Leu205=) rs1464415140
NM_012123.4(MTO1):c.61C>G (p.Pro21Ala) rs753873871
NM_012123.4(MTO1):c.61C>T (p.Pro21Ser) rs753873871
NM_012123.4(MTO1):c.620C>G (p.Thr207Arg)
NM_012123.4(MTO1):c.621G>T (p.Thr207=)
NM_012123.4(MTO1):c.630A>G (p.Ala210=) rs2150031442
NM_012123.4(MTO1):c.639A>C (p.Leu213Phe)
NM_012123.4(MTO1):c.641G>A (p.Gly214Glu)
NM_012123.4(MTO1):c.648G>C (p.Gln216His)
NM_012123.4(MTO1):c.648del (p.Gln216fs)
NM_012123.4(MTO1):c.652T>C (p.Ser218Pro)
NM_012123.4(MTO1):c.660A>G (p.Gly220=)
NM_012123.4(MTO1):c.666T>C (p.Ala222=)
NM_012123.4(MTO1):c.667C>G (p.Gln223Glu)
NM_012123.4(MTO1):c.667C>T (p.Gln223Ter) rs2150031480
NM_012123.4(MTO1):c.672A>G (p.Thr224=)
NM_012123.4(MTO1):c.674T>G (p.Leu225Arg) rs1327928200
NM_012123.4(MTO1):c.681G>A (p.Lys227=) rs781586985
NM_012123.4(MTO1):c.681G>T (p.Lys227Asn) rs781586985
NM_012123.4(MTO1):c.694G>T (p.Val232Leu)
NM_012123.4(MTO1):c.708G>A (p.Lys236=)
NM_012123.4(MTO1):c.718C>T (p.Pro240Ser) rs1192411843
NM_012123.4(MTO1):c.71G>A (p.Arg24Gln) rs200417760
NM_012123.4(MTO1):c.724del (p.Arg242fs)
NM_012123.4(MTO1):c.725G>A (p.Arg242Gln)
NM_012123.4(MTO1):c.734_735del (p.Lys245fs) rs755954353
NM_012123.4(MTO1):c.762C>T (p.Asn254=) rs1771216320
NM_012123.4(MTO1):c.765G>C (p.Lys255Asn)
NM_012123.4(MTO1):c.767A>G (p.His256Arg) rs1771216675
NM_012123.4(MTO1):c.773C>T (p.Pro258Leu) rs868497455
NM_012123.4(MTO1):c.774G>T (p.Pro258=) rs748667460
NM_012123.4(MTO1):c.783A>G (p.Pro261=)
NM_012123.4(MTO1):c.79A>T (p.Ser27Cys) rs1240435216
NM_012123.4(MTO1):c.80G>T (p.Ser27Ile) rs2150024378
NM_012123.4(MTO1):c.813A>G (p.Thr271=)
NM_012123.4(MTO1):c.818G>C (p.Trp273Ser) rs2150031602
NM_012123.4(MTO1):c.825+10_825+29del rs1177694932
NM_012123.4(MTO1):c.825+11T>C
NM_012123.4(MTO1):c.825+14C>T
NM_012123.4(MTO1):c.826-10T>C
NM_012123.4(MTO1):c.828A>G (p.Pro276=)
NM_012123.4(MTO1):c.83A>C (p.Asp28Ala) rs1770829413
NM_012123.4(MTO1):c.840G>T (p.Leu280=) rs749351702
NM_012123.4(MTO1):c.846T>C (p.Cys282=)
NM_012123.4(MTO1):c.850T>C (p.Leu284=)
NM_012123.4(MTO1):c.85A>T (p.Ser29Cys) rs2150024386
NM_012123.4(MTO1):c.862A>C (p.Asn288His)
NM_012123.4(MTO1):c.874G>A (p.Asp292Asn)
NM_012123.4(MTO1):c.882T>A (p.Ile294=)
NM_012123.4(MTO1):c.886C>T (p.Leu296Phe)
NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)
NM_012123.4(MTO1):c.8A>C (p.Tyr3Ser)
NM_012123.4(MTO1):c.8A>G (p.Tyr3Cys)
NM_012123.4(MTO1):c.901C>T (p.Leu301Phe)
NM_012123.4(MTO1):c.911A>C (p.His304Pro) rs1771433572
NM_012123.4(MTO1):c.913G>A (p.Val305Ile) rs1457365776
NM_012123.4(MTO1):c.917A>G (p.Lys306Arg) rs1582684383
NM_012123.4(MTO1):c.919G>A (p.Glu307Lys) rs138469662
NM_012123.4(MTO1):c.923C>T (p.Thr308Met)
NM_012123.4(MTO1):c.924G>A (p.Thr308=) rs962712902
NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)
NM_012123.4(MTO1):c.938+14G>A
NM_012123.4(MTO1):c.938+20G>T
NM_012123.4(MTO1):c.938+7= rs7766570
NM_012123.4(MTO1):c.939-10T>C
NM_012123.4(MTO1):c.939-10del rs1064794699
NM_012123.4(MTO1):c.939-6T>G
NM_012123.4(MTO1):c.93G>A (p.Ala31=)
NM_012123.4(MTO1):c.961A>T (p.Lys321Ter) rs148667065
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) rs1554148965
NM_012123.4(MTO1):c.967_968del (p.Leu323fs) rs2150035785
NM_012123.4(MTO1):c.96C>G (p.Pro32=) rs938648582
NM_012123.4(MTO1):c.970del (p.Arg324fs)
NM_012123.4(MTO1):c.971G>A (p.Arg324His)
NM_012123.4(MTO1):c.979A>T (p.Asn327Tyr)
NM_012123.4(MTO1):c.97C>G (p.Arg33Gly) rs769059204
NM_012123.4(MTO1):c.97del (p.Arg33fs) rs1582666067
NM_012123.4(MTO1):c.982C>T (p.Arg328Cys)
NM_012123.4(MTO1):c.983G>T (p.Arg328Leu) rs142148270
NM_012123.4(MTO1):c.986T>A (p.Leu329Gln) rs2150035811
NM_012123.4(MTO1):c.987A>G (p.Leu329=)
NM_012123.4(MTO1):c.990T>A (p.His330Gln) rs2150035817
NM_012123.4(MTO1):c.994G>A (p.Val332Ile) rs1173140501
NM_012123.4(MTO1):c.9C>T (p.Tyr3=)
NM_012473.4(TXN2):c.376A>G (p.Ile126Val) rs141470075
NM_012473.4(TXN2):c.71G>A (p.Trp24Ter) rs754022333
NM_014018.3(MRPS28):c.356A>G (p.Lys119Arg) rs1808705345
NM_014672.4(PRORP):c.1093T>C (p.Tyr365His)
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)
NM_014672.4(PRORP):c.1197dup (p.Ser400fs) rs764714439
NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val) rs1169927428
NM_014672.4(PRORP):c.1505G>A (p.Arg502Gln)
NM_015971.4(MRPS7):c.83+23C>G rs62085969
NM_015971.4(MRPS7):c.83+23_83+24del rs36039201
NM_016034.5(MRPS2):c.223G>A (p.Val75Ile)
NM_016034.5(MRPS2):c.300-2A>G
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr) rs995894816
NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)
NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr) rs1831230615
NM_016065.4(MRPS16):c.*1291_*1293del rs767465725
NM_016065.4(MRPS16):c.*1503A>G rs2018198
NM_016065.4(MRPS16):c.*450del rs886047196
NM_016065.4(MRPS16):c.*633dup rs555061429
NM_016065.4(MRPS16):c.*854_*856del rs886047188
NM_016065.4(MRPS16):c.-120_-118del rs574159820
NM_016065.4(MRPS16):c.-85GT[1] rs886047201
NM_016065.4(MRPS16):c.238G>A (p.Gly80Arg)
NM_016065.4(MRPS16):c.275-5T>G rs763591161
NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter) rs104894168
NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg) rs772721937
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
NM_017446.4(MRPL39):c.589-924G>A rs1209423257
NM_017446.4(MRPL39):c.896G>T (p.Gly299Val) rs1227035820
NM_017446.4(MRPL39):c.921+5G>A
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) rs2124577339
NM_017646.6(TRIT1):c.1171_1172del (p.Lys391fs)
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)
NM_017646.6(TRIT1):c.1235-2A>G
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017646.6(TRIT1):c.415-4A>G rs1642667473
NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter) rs2124597984
NM_017646.6(TRIT1):c.865C>T (p.His289Tyr)
NM_017646.6(TRIT1):c.882del (p.Glu295fs)
NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)
NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala) rs875989831
NM_017909.2(RMND1):c.1003delG rs1057519299
NM_017909.3(RMND1):c.[613G>T];[713A>G]
NM_017909.4(RMND1):c.1049T>C (p.Met350Thr) rs1582950315
NM_017909.4(RMND1):c.108del (p.Phe36fs)
NM_017909.4(RMND1):c.1159G>C (p.Asp387His) rs372096369
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs) rs769890347
NM_017909.4(RMND1):c.1286A>T (p.Glu429Val) rs1582936202
NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr) rs1411929426
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.388del (p.Val130fs) rs1582970514
NM_017909.4(RMND1):c.485del (p.Pro162fs) rs759477396
NM_017909.4(RMND1):c.504+1G>A rs1562800908
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)
NM_017909.4(RMND1):c.703G>A (p.Val235Met)
NM_017909.4(RMND1):c.727del (p.Thr243fs) rs1582957532
NM_017909.4(RMND1):c.856del (p.Glu286fs) rs1780213490
NM_017909.4(RMND1):c.859A>T (p.Ile287Phe) rs763077801
NM_017952.6(PTCD3):c.1453-1G>C
NM_017952.6(PTCD3):c.1551A>C (p.Lys517Asn)
NM_017952.6(PTCD3):c.1571G>T (p.Arg524Leu)
NM_017952.6(PTCD3):c.1746_1747dup (p.Phe583fs) rs1573859565
NM_017952.6(PTCD3):c.1782A>G (p.Lys594=)
NM_017952.6(PTCD3):c.1918C>G (p.Pro640Ala)
NM_017952.6(PTCD3):c.194G>C (p.Trp65Ser)
NM_017952.6(PTCD3):c.415-2A>G rs1301547272
NM_017952.6(PTCD3):c.710del (p.Thr237fs) rs1674335308
NM_017952.6(PTCD3):c.902C>T (p.Thr301Ile)
NM_018127.7(ELAC2):c.1006C>T (p.Pro336Ser) rs565351884
NM_018127.7(ELAC2):c.1011G>T (p.Val337=)
NM_018127.7(ELAC2):c.1014C>T (p.Ala338=) rs2143613110
NM_018127.7(ELAC2):c.1017GGT[1] (p.Val341del) rs1344475140
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg) rs1555575927
NM_018127.7(ELAC2):c.102G>A (p.Lys34=)
NM_018127.7(ELAC2):c.1030G>A (p.Ala344Thr)
NM_018127.7(ELAC2):c.1033C>T (p.Pro345Ser)
NM_018127.7(ELAC2):c.1034C>G (p.Pro345Arg) rs2143612955
NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)
NM_018127.7(ELAC2):c.1039T>C (p.Ser347Pro)
NM_018127.7(ELAC2):c.1048G>A (p.Val350Met) rs2143612862
NM_018127.7(ELAC2):c.1049T>G (p.Val350Gly) rs2143612845
NM_018127.7(ELAC2):c.1052A>G (p.Asp351Gly)
NM_018127.7(ELAC2):c.1053C>G (p.Asp351Glu) rs991150757
NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
NM_018127.7(ELAC2):c.106C>T (p.Pro36Ser)
NM_018127.7(ELAC2):c.1079+19C>T
NM_018127.7(ELAC2):c.1079+20G>A
NM_018127.7(ELAC2):c.107C>T (p.Pro36Leu)
NM_018127.7(ELAC2):c.1080-16dup
NM_018127.7(ELAC2):c.1080-18G>A rs775647349
NM_018127.7(ELAC2):c.1080-19C>G
NM_018127.7(ELAC2):c.1080-1G>C rs2143607002
NM_018127.7(ELAC2):c.1080-20C>A
NM_018127.7(ELAC2):c.1080-3C>T rs538756575
NM_018127.7(ELAC2):c.1080-5C>T
NM_018127.7(ELAC2):c.1081T>G (p.Phe361Val)
NM_018127.7(ELAC2):c.1094C>T (p.Thr365Ile) rs1000361851
NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)
NM_018127.7(ELAC2):c.1108C>G (p.Leu370Val) rs2143606789
NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)
NM_018127.7(ELAC2):c.1120_1121delinsCT (p.Cys374Leu) rs2143606682
NM_018127.7(ELAC2):c.1129G>T (p.Val377Phe) rs1411516008
NM_018127.7(ELAC2):c.1137C>A (p.Asn379Lys)
NM_018127.7(ELAC2):c.1147C>A (p.His383Asn) rs187129692
NM_018127.7(ELAC2):c.1147C>T (p.His383Tyr)
NM_018127.7(ELAC2):c.1163A>G (p.Gln388Arg) rs759815679
NM_018127.7(ELAC2):c.1169A>G (p.Asn390Ser)
NM_018127.7(ELAC2):c.1171C>G (p.Leu391Val)
NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)
NM_018127.7(ELAC2):c.117C>A (p.His39Gln) rs748570371
NM_018127.7(ELAC2):c.117C>T (p.His39=)
NM_018127.7(ELAC2):c.1182G>A (p.Pro394=)
NM_018127.7(ELAC2):c.1185C>T (p.Asp395=)
NM_018127.7(ELAC2):c.1186A>T (p.Ile396Phe) rs149544601
NM_018127.7(ELAC2):c.1189T>C (p.Phe397Leu) rs2143606118
NM_018127.7(ELAC2):c.118C>G (p.Leu40Val)
NM_018127.7(ELAC2):c.1191C>T (p.Phe397=) rs1167915234
NM_018127.7(ELAC2):c.1200C>A (p.Leu400=)
NM_018127.7(ELAC2):c.120G>A (p.Leu40=) rs368781017
NM_018127.7(ELAC2):c.1211G>A (p.Arg404His) rs200565641
NM_018127.7(ELAC2):c.1211G>T (p.Arg404Leu) rs200565641
NM_018127.7(ELAC2):c.1212C>T (p.Arg404=) rs2143605832
NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr)
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
NM_018127.7(ELAC2):c.1218+19C>T
NM_018127.7(ELAC2):c.1218+5T>C rs1365154419
NM_018127.7(ELAC2):c.1218G>A (p.Lys406=) rs777546567
NM_018127.7(ELAC2):c.1219-12T>C
NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)
NM_018127.7(ELAC2):c.1237A>T (p.Ser413Cys) rs754722229
NM_018127.7(ELAC2):c.1238G>A (p.Ser413Asn) rs1446980653
NM_018127.7(ELAC2):c.1242G>A (p.Val414=)
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
NM_018127.7(ELAC2):c.1248G>A (p.Met416Ile)
NM_018127.7(ELAC2):c.1255G>A (p.Gly419Ser)
NM_018127.7(ELAC2):c.1262G>C (p.Cys421Ser)
NM_018127.7(ELAC2):c.1264C>T (p.Leu422Phe) rs1311991142
NM_018127.7(ELAC2):c.1266C>G (p.Leu422=) rs764718395
NM_018127.7(ELAC2):c.126G>C (p.Thr42=)
NM_018127.7(ELAC2):c.1275C>T (p.Tyr425=)
NM_018127.7(ELAC2):c.1278G>A (p.Gln426=) rs1360216860
NM_018127.7(ELAC2):c.1289G>C (p.Arg430Thr)
NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys) rs1598224070
NM_018127.7(ELAC2):c.12T>C (p.Leu4=)
NM_018127.7(ELAC2):c.1304+15G>A
NM_018127.7(ELAC2):c.1304+9C>T
NM_018127.7(ELAC2):c.1305-11_1305-8del
NM_018127.7(ELAC2):c.1305-12C>G
NM_018127.7(ELAC2):c.1305-12C>T rs779858810
NM_018127.7(ELAC2):c.1305-14C>T
NM_018127.7(ELAC2):c.1305-20G>A
NM_018127.7(ELAC2):c.1305-6dup rs200410915
NM_018127.7(ELAC2):c.1305-8_1305-7insTC
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC rs201830045
NM_018127.7(ELAC2):c.1305-8delinsCTCTC rs1064794813
NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser) rs1205360358
NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)
NM_018127.7(ELAC2):c.1348G>T (p.Ala450Ser)
NM_018127.7(ELAC2):c.1349C>T (p.Ala450Val)
NM_018127.7(ELAC2):c.134A>C (p.Lys45Thr) rs745328310
NM_018127.7(ELAC2):c.1373A>G (p.Gln458Arg) rs1567751319
NM_018127.7(ELAC2):c.1377C>T (p.Ser459=) rs1337946720
NM_018127.7(ELAC2):c.1385A>C (p.Glu462Ala) rs1310120837
NM_018127.7(ELAC2):c.1392GAG[1] (p.Arg465del) rs758221167
NM_018127.7(ELAC2):c.1394G>A (p.Arg465Lys)
NM_018127.7(ELAC2):c.1401G>A (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1401G>T (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1405G>A (p.Asp469Asn)
NM_018127.7(ELAC2):c.1407C>T (p.Asp469=)
NM_018127.7(ELAC2):c.1418C>A (p.Pro473Gln)
NM_018127.7(ELAC2):c.141A>G (p.Gly47=) rs1240011554
NM_018127.7(ELAC2):c.1423+11G>T
NM_018127.7(ELAC2):c.1423+19A>G
NM_018127.7(ELAC2):c.1423+9G>T
NM_018127.7(ELAC2):c.1424-12A>G
NM_018127.7(ELAC2):c.1424-3C>T rs878855048
NM_018127.7(ELAC2):c.1424-5dup
NM_018127.7(ELAC2):c.1424-6del rs2040589080
NM_018127.7(ELAC2):c.1424-6dup
NM_018127.7(ELAC2):c.1428AAG[1] (p.Arg477del) rs779224899
NM_018127.7(ELAC2):c.1431A>T (p.Arg477Ser)
NM_018127.7(ELAC2):c.1434T>A (p.Ser478Arg)
NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)
NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)
NM_018127.7(ELAC2):c.1442C>T (p.Pro481Leu)
NM_018127.7(ELAC2):c.144G>T (p.Pro48=)
NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)
NM_018127.7(ELAC2):c.145T>C (p.Ser49Pro) rs1555584447
NM_018127.7(ELAC2):c.1463C>G (p.Thr488Arg)
NM_018127.7(ELAC2):c.1463C>T (p.Thr488Ile) rs931963687
NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)
NM_018127.7(ELAC2):c.1476C>G (p.Ile492Met)
NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=) rs140335642
NM_018127.7(ELAC2):c.1481T>C (p.Met494Thr)
NM_018127.7(ELAC2):c.1507C>T (p.Leu503Phe)
NM_018127.7(ELAC2):c.151T>C (p.Cys51Arg) rs2041834237
NM_018127.7(ELAC2):c.1520+7T>C
NM_018127.7(ELAC2):c.1520+9C>T
NM_018127.7(ELAC2):c.1521-2A>G
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
NM_018127.7(ELAC2):c.1547G>A (p.Cys516Tyr) rs970054118
NM_018127.7(ELAC2):c.154T>C (p.Ser52Pro) rs755823018
NM_018127.7(ELAC2):c.1550G>T (p.Gly517Val)
NM_018127.7(ELAC2):c.1559C>T (p.Thr520Ile) rs397515463
NM_018127.7(ELAC2):c.1559_1560inv (p.Thr520Met)
NM_018127.7(ELAC2):c.155C>A (p.Ser52Tyr) rs9895963
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe) rs9895963
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_018127.7(ELAC2):c.1560A>T (p.Thr520=)
NM_018127.7(ELAC2):c.1563T>G (p.Phe521Leu) rs761488832
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018127.7(ELAC2):c.156C>A (p.Ser52=)
NM_018127.7(ELAC2):c.157G>T (p.Gly53Cys) rs1598280792
NM_018127.7(ELAC2):c.1585G>A (p.Gly529Arg) rs1567746262
NM_018127.7(ELAC2):c.159C>G (p.Gly53=)
NM_018127.7(ELAC2):c.161G>T (p.Gly54Val)
NM_018127.7(ELAC2):c.1626G>A (p.Val542=)
NM_018127.7(ELAC2):c.162C>G (p.Gly54=) rs2143697041
NM_018127.7(ELAC2):c.1630G>T (p.Val544Leu)
NM_018127.7(ELAC2):c.1638C>T (p.His546=) rs1489337164
NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)
NM_018127.7(ELAC2):c.1641G>A (p.Leu547=) rs1598205310
NM_018127.7(ELAC2):c.1644C>T (p.His548=)
NM_018127.7(ELAC2):c.1648G>T (p.Asp550Tyr)
NM_018127.7(ELAC2):c.1651C>A (p.His551Asn) rs1487812489
NM_018127.7(ELAC2):c.1659+12G>C
NM_018127.7(ELAC2):c.1659+12G>T
NM_018127.7(ELAC2):c.1659+20A>G
NM_018127.7(ELAC2):c.1659+2dup
NM_018127.7(ELAC2):c.1659+3G>A rs374767852
NM_018127.7(ELAC2):c.1659+5G>A rs2143568451
NM_018127.7(ELAC2):c.1659+8T>C
NM_018127.7(ELAC2):c.1659G>C (p.Thr553=)
NM_018127.7(ELAC2):c.1660-10T>C rs1373415355
NM_018127.7(ELAC2):c.1660-10T>G
NM_018127.7(ELAC2):c.1660-17T>G rs2143564288
NM_018127.7(ELAC2):c.1662C>T (p.Gly554=)
NM_018127.7(ELAC2):c.1666C>G (p.Pro556Ala) rs2040449069
NM_018127.7(ELAC2):c.1670G>A (p.Ser557Asn)
NM_018127.7(ELAC2):c.1673T>C (p.Ile558Thr)
NM_018127.7(ELAC2):c.1674C>T (p.Ile558=)
NM_018127.7(ELAC2):c.1675T>G (p.Leu559Val)
NM_018127.7(ELAC2):c.1676TGC[1] (p.Leu560del) rs2040448051
NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)
NM_018127.7(ELAC2):c.1679T>A (p.Leu560Gln)
NM_018127.7(ELAC2):c.1690C>T (p.Arg564Cys)
NM_018127.7(ELAC2):c.1693G>A (p.Ala565Thr)
NM_018127.7(ELAC2):c.1696T>C (p.Leu566=) rs2143563741
NM_018127.7(ELAC2):c.1698+1G>C rs1085307065
NM_018127.7(ELAC2):c.1698+5G>A rs910420350
NM_018127.7(ELAC2):c.1699-15C>A rs754311468
NM_018127.7(ELAC2):c.1699-15C>G
NM_018127.7(ELAC2):c.1699-16G>A rs765833496
NM_018127.7(ELAC2):c.1699-1G>A
NM_018127.7(ELAC2):c.1699-8dup rs878855049
NM_018127.7(ELAC2):c.1702T>C (p.Ser568Pro) rs2143562579
NM_018127.7(ELAC2):c.1706del (p.Leu569fs) rs2143562536
NM_018127.7(ELAC2):c.1713G>A (p.Lys571=)
NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu)
NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)
NM_018127.7(ELAC2):c.171C>G (p.Thr57=)
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
NM_018127.7(ELAC2):c.1729C>G (p.Leu577Val)
NM_018127.7(ELAC2):c.1731_1732delinsCT (p.Val578Leu) rs2143562254
NM_018127.7(ELAC2):c.1735G>C (p.Val579Leu) rs1365874986
NM_018127.7(ELAC2):c.1745A>G (p.Asn582Ser)
NM_018127.7(ELAC2):c.174G>C (p.Val58=)
NM_018127.7(ELAC2):c.1770G>C (p.Gln590His)
NM_018127.7(ELAC2):c.1778A>G (p.Asn593Ser)
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu) rs1435693717
NM_018127.7(ELAC2):c.1794C>T (p.Val598=)
NM_018127.7(ELAC2):c.1796T>C (p.Leu599Pro) rs2143561613
NM_018127.7(ELAC2):c.1808+14del rs761236461
NM_018127.7(ELAC2):c.1808+26G>C rs2286338
NM_018127.7(ELAC2):c.1808+4A>G rs1044835449
NM_018127.7(ELAC2):c.1808+7A>G
NM_018127.7(ELAC2):c.1809-10C>T rs2040403434
NM_018127.7(ELAC2):c.1809-14T>G
NM_018127.7(ELAC2):c.1809-19A>G
NM_018127.7(ELAC2):c.1809-1G>A
NM_018127.7(ELAC2):c.1809-5del
NM_018127.7(ELAC2):c.180G>C (p.Leu60=)
NM_018127.7(ELAC2):c.1823A>G (p.Lys608Arg) rs2143557076
NM_018127.7(ELAC2):c.183G>T (p.Gln61His)
NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)
NM_018127.7(ELAC2):c.1848C>G (p.Ile616Met)
NM_018127.7(ELAC2):c.184G>C (p.Val62Leu)
NM_018127.7(ELAC2):c.1850C>G (p.Ser617Cys) rs2143556871
NM_018127.7(ELAC2):c.1861G>C (p.Val621Leu)
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) rs119484087
NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=) rs375891204
NM_018127.7(ELAC2):c.1889G>A (p.Arg630Gln)
NM_018127.7(ELAC2):c.1897G>A (p.Asp633Asn) rs2143556453
NM_018127.7(ELAC2):c.1908+16G>A rs773964699
NM_018127.7(ELAC2):c.1908+16G>T rs773964699
NM_018127.7(ELAC2):c.1908+1G>A rs1014558424
NM_018127.7(ELAC2):c.1908+20G>A
NM_018127.7(ELAC2):c.1908+3A>G rs1164400207
NM_018127.7(ELAC2):c.1908+7G>A
NM_018127.7(ELAC2):c.1908+8G>A
NM_018127.7(ELAC2):c.1908+9C>T
NM_018127.7(ELAC2):c.1908G>A (p.Glu636=)
NM_018127.7(ELAC2):c.1909-11C>T
NM_018127.7(ELAC2):c.1909-14C>T
NM_018127.7(ELAC2):c.1917C>T (p.Thr639=)
NM_018127.7(ELAC2):c.1926G>A (p.Val642=)
NM_018127.7(ELAC2):c.1928G>A (p.Arg643Gln) rs199545091
NM_018127.7(ELAC2):c.1928G>T (p.Arg643Leu)
NM_018127.7(ELAC2):c.1935C>T (p.Cys645=)
NM_018127.7(ELAC2):c.1937A>G (p.Lys646Arg)
NM_018127.7(ELAC2):c.1940A>T (p.His647Leu) rs1343793177
NM_018127.7(ELAC2):c.1944G>A (p.Ala648=)
NM_018127.7(ELAC2):c.1944G>T (p.Ala648=)
NM_018127.7(ELAC2):c.1959G>A (p.Leu653=)
NM_018127.7(ELAC2):c.1962G>A (p.Val654=)
NM_018127.7(ELAC2):c.1985T>C (p.Val662Ala) rs1555572124
NM_018127.7(ELAC2):c.1986C>T (p.Val662=) rs772271496
NM_018127.7(ELAC2):c.198T>C (p.Gly66=)
NM_018127.7(ELAC2):c.1999A>G (p.Thr667Ala)
NM_018127.7(ELAC2):c.2000C>T (p.Thr667Ile) rs961586097
NM_018127.7(ELAC2):c.2003T>C (p.Met668Thr) rs376231184
NM_018127.7(ELAC2):c.200G>T (p.Ser67Ile) rs1386145788
NM_018127.7(ELAC2):c.2010C>T (p.Cys670=) rs1598197387
NM_018127.7(ELAC2):c.2026A>G (p.Met676Val) rs2143554465
NM_018127.7(ELAC2):c.2029+10G>A rs2143554371
NM_018127.7(ELAC2):c.2029+11G>T rs2143554341
NM_018127.7(ELAC2):c.2029+19A>C
NM_018127.7(ELAC2):c.2029+1G>A
NM_018127.7(ELAC2):c.2029+5G>A
NM_018127.7(ELAC2):c.202C>T (p.Arg68Trp)
NM_018127.7(ELAC2):c.2030-11T>C
NM_018127.7(ELAC2):c.2030-12C>T
NM_018127.7(ELAC2):c.2030-18del
NM_018127.7(ELAC2):c.2030-3del rs768715038
NM_018127.7(ELAC2):c.2030-4C>T
NM_018127.7(ELAC2):c.2034A>G (p.Lys678=)
NM_018127.7(ELAC2):c.2047C>T (p.Leu683=)
NM_018127.7(ELAC2):c.2049G>A (p.Leu683=)
NM_018127.7(ELAC2):c.2064C>T (p.Thr688=)
NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg) rs2040364723
NM_018127.7(ELAC2):c.2073T>C (p.Asp691=)
NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys) rs1426760558
NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)
NM_018127.7(ELAC2):c.2096A>C (p.Glu699Ala)
NM_018127.7(ELAC2):c.2108+8del rs2143551878
NM_018127.7(ELAC2):c.2108+9G>A rs2143551870
NM_018127.7(ELAC2):c.2109-15G>A
NM_018127.7(ELAC2):c.2109-18T>C
NM_018127.7(ELAC2):c.2109-6_2111del
NM_018127.7(ELAC2):c.2114C>A (p.Thr705Lys)
NM_018127.7(ELAC2):c.2121A>G (p.Gln707=)
NM_018127.7(ELAC2):c.2123C>T (p.Ala708Val) rs2040327532
NM_018127.7(ELAC2):c.212G>C (p.Gly71Ala) rs1185274134
NM_018127.7(ELAC2):c.2142G>T (p.Arg714=) rs878855050
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
NM_018127.7(ELAC2):c.214G>A (p.Ala72Thr)
NM_018127.7(ELAC2):c.215C>T (p.Ala72Val)
NM_018127.7(ELAC2):c.2164C>T (p.Leu722=)
NM_018127.7(ELAC2):c.2166G>C (p.Leu722=) rs747933914
NM_018127.7(ELAC2):c.2175C>T (p.Phe725=)
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter) rs946948334
NM_018127.7(ELAC2):c.2183G>A (p.Arg728His)
NM_018127.7(ELAC2):c.2184C>G (p.Arg728=) rs2143547737
NM_018127.7(ELAC2):c.218C>A (p.Ala73Glu) rs2143696607
NM_018127.7(ELAC2):c.2190C>T (p.Ala730=) rs2143547695
NM_018127.7(ELAC2):c.2209C>T (p.Pro737Ser) rs2143547589
NM_018127.7(ELAC2):c.220C>T (p.Leu74Phe) rs752421786
NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)
NM_018127.7(ELAC2):c.2227G>A (p.Val743Met)
NM_018127.7(ELAC2):c.222C>T (p.Leu74=)
NM_018127.7(ELAC2):c.2233G>A (p.Val745Ile)
NM_018127.7(ELAC2):c.223T>C (p.Tyr75His)
NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr)
NM_018127.7(ELAC2):c.2253+14_2253+15del rs778977916
NM_018127.7(ELAC2):c.2253+15C>T
NM_018127.7(ELAC2):c.2253+16G>A rs1483814202
NM_018127.7(ELAC2):c.2253+20A>G
NM_018127.7(ELAC2):c.2253+6_2253+321del rs2143544217
NM_018127.7(ELAC2):c.2254-13T>C
NM_018127.7(ELAC2):c.2254-14A>G
NM_018127.7(ELAC2):c.2254-9G>C
NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)
NM_018127.7(ELAC2):c.2266_2267del (p.Asp756fs) rs2040267666
NM_018127.7(ELAC2):c.2278_2298dup (p.Pro766_Leu767insMetProLysLeuIleProPro)
NM_018127.7(ELAC2):c.2289G>C (p.Leu763=) rs141048290
NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)
NM_018127.7(ELAC2):c.2308_2309del (p.Leu770fs) rs753154933
NM_018127.7(ELAC2):c.2312_2313del (p.Phe771fs)
NM_018127.7(ELAC2):c.2320G>A (p.Asp774Asn)
NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val)
NM_018127.7(ELAC2):c.2324T>A (p.Ile775Asn) rs1470895228
NM_018127.7(ELAC2):c.2325C>T (p.Ile775=) rs775479429
NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys)
NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)
NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu)
NM_018127.7(ELAC2):c.2338_2349del (p.Glu780_Glu783del) rs1395507635
NM_018127.7(ELAC2):c.2342G>T (p.Arg781Leu) rs119484086
NM_018127.7(ELAC2):c.234C>G (p.Ser78=)
NM_018127.7(ELAC2):c.2351A>G (p.Lys784Arg)
NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp) rs1060502162
NM_018127.7(ELAC2):c.2365_2373dup (p.Arg791_Ala792insGlnValArg)
NM_018127.7(ELAC2):c.2367G>T (p.Gln789His) rs2143540323
NM_018127.7(ELAC2):c.2368G>A (p.Val790Met)
NM_018127.7(ELAC2):c.2374G>A (p.Ala792Thr) rs1567738119
NM_018127.7(ELAC2):c.2375_2380del (p.Ala792_Leu794delinsVal) rs2143540081
NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)
NM_018127.7(ELAC2):c.2380C>T (p.Leu794Phe)
NM_018127.7(ELAC2):c.2384T>C (p.Leu795Pro) rs917643446
NM_018127.7(ELAC2):c.2390G>A (p.Arg797Lys)
NM_018127.7(ELAC2):c.2392_2393delinsTT (p.Glu798Leu) rs2143539834
NM_018127.7(ELAC2):c.2392_2393inv (p.Glu798Ser)
NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)
NM_018127.7(ELAC2):c.2402G>A (p.Gly801Asp)
NM_018127.7(ELAC2):c.240C>G (p.Phe80Leu) rs764484752
NM_018127.7(ELAC2):c.2410del (p.Glu804fs) rs2143539521
NM_018127.7(ELAC2):c.2412G>A (p.Glu804=) rs1165224986
NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp)
NM_018127.7(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) rs878855051
NM_018127.7(ELAC2):c.2421G>A (p.Glu807=) rs2143539338
NM_018127.7(ELAC2):c.2422C>T (p.Pro808Ser)
NM_018127.7(ELAC2):c.2435G>A (p.Arg812Gln) rs560083267
NM_018127.7(ELAC2):c.2449G>A (p.Glu817Lys)
NM_018127.7(ELAC2):c.245+14C>T rs368694405
NM_018127.7(ELAC2):c.245+18G>T
NM_018127.7(ELAC2):c.245+9A>G
NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)
NM_018127.7(ELAC2):c.2457G>C (p.Gln819His)
NM_018127.7(ELAC2):c.2458G>A (p.Ala820Thr)
NM_018127.7(ELAC2):c.2459C>G (p.Ala820Gly) rs1412024900
NM_018127.7(ELAC2):c.246-14T>C
NM_018127.7(ELAC2):c.246-18G>A
NM_018127.7(ELAC2):c.246-20G>C
NM_018127.7(ELAC2):c.246-2A>G rs2143692659
NM_018127.7(ELAC2):c.246-7C>A
NM_018127.7(ELAC2):c.246-8T>C
NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr)
NM_018127.7(ELAC2):c.2467G>A (p.Val823Ile)
NM_018127.7(ELAC2):c.2472_2473del (p.Arg824fs) rs2143538654
NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)
NM_018127.7(ELAC2):c.257A>G (p.Asn86Ser)
NM_018127.7(ELAC2):c.268G>A (p.Gly90Ser)
NM_018127.7(ELAC2):c.273del (p.Gln92fs) rs748788377
NM_018127.7(ELAC2):c.282C>T (p.Leu94=) rs2143692376
NM_018127.7(ELAC2):c.283A>G (p.Met95Val)
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp)
NM_018127.7(ELAC2):c.294C>T (p.His98=)
NM_018127.7(ELAC2):c.296+11C>T
NM_018127.7(ELAC2):c.296+13_296+14del
NM_018127.7(ELAC2):c.296+3_296+6dup rs1182540305
NM_018127.7(ELAC2):c.297-14T>G
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.297-3T>A
NM_018127.7(ELAC2):c.297-5del
NM_018127.7(ELAC2):c.297-8A>G
NM_018127.7(ELAC2):c.297-9C>A
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
NM_018127.7(ELAC2):c.29C>T (p.Ser10Phe) rs2143698286
NM_018127.7(ELAC2):c.30C>G (p.Ser10=)
NM_018127.7(ELAC2):c.317A>G (p.Asp106Gly)
NM_018127.7(ELAC2):c.325T>C (p.Phe109Leu) rs1060502163
NM_018127.7(ELAC2):c.333A>G (p.Thr111=)
NM_018127.7(ELAC2):c.33G>A (p.Ala11=)
NM_018127.7(ELAC2):c.352G>T (p.Val118Phe) rs1906915211
NM_018127.7(ELAC2):c.360C>T (p.Gly120=)
NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)
NM_018127.7(ELAC2):c.367+15T>C
NM_018127.7(ELAC2):c.367+15del
NM_018127.7(ELAC2):c.368-10T>C
NM_018127.7(ELAC2):c.368-7T>A
NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
NM_018127.7(ELAC2):c.385A>G (p.Lys129Glu) rs776742204
NM_018127.7(ELAC2):c.38G>A (p.Gly13Glu)
NM_018127.7(ELAC2):c.391A>G (p.Thr131Ala) rs2143685296
NM_018127.7(ELAC2):c.402A>G (p.Pro134=)
NM_018127.7(ELAC2):c.415T>C (p.Ser139Pro)
NM_018127.7(ELAC2):c.422C>T (p.Pro141Leu) rs1598274263
NM_018127.7(ELAC2):c.432+10T>C
NM_018127.7(ELAC2):c.432+11C>T
NM_018127.7(ELAC2):c.432+12del
NM_018127.7(ELAC2):c.432+17A>C
NM_018127.7(ELAC2):c.432+1del rs766739618
NM_018127.7(ELAC2):c.432+7C>T rs780918165
NM_018127.7(ELAC2):c.433-16C>T rs2143678464
NM_018127.7(ELAC2):c.433-20A>G rs780641263
NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys)
NM_018127.7(ELAC2):c.444C>G (p.Leu148=)
NM_018127.7(ELAC2):c.447A>G (p.Glu149=) rs2143678294
NM_018127.7(ELAC2):c.457del (p.Ile153fs) rs1567773277
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.465T>C (p.Ser155=)
NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)
NM_018127.7(ELAC2):c.48G>A (p.Met16Ile)
NM_018127.7(ELAC2):c.490+11G>C
NM_018127.7(ELAC2):c.490+5G>A
NM_018127.7(ELAC2):c.491-4G>T
NM_018127.7(ELAC2):c.491-5T>C rs2143670362
NM_018127.7(ELAC2):c.491C>A (p.Ala164Asp)
NM_018127.7(ELAC2):c.493G>C (p.Val165Leu) rs2143670315
NM_018127.7(ELAC2):c.496C>G (p.Arg166Gly)
NM_018127.7(ELAC2):c.496C>T (p.Arg166Trp)
NM_018127.7(ELAC2):c.499C>T (p.Pro167Ser)
NM_018127.7(ELAC2):c.501C>G (p.Pro167=)
NM_018127.7(ELAC2):c.50C>G (p.Ser17Trp)
NM_018127.7(ELAC2):c.519C>T (p.Tyr173=) rs2143670005
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter) rs374954001
NM_018127.7(ELAC2):c.526G>A (p.Glu176Lys)
NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter)
NM_018127.7(ELAC2):c.532A>G (p.Met178Val) rs1052094774
NM_018127.7(ELAC2):c.536C>T (p.Thr179Ile) rs2143669875
NM_018127.7(ELAC2):c.53A>C (p.Gln18Pro)
NM_018127.7(ELAC2):c.549C>G (p.Ile183Met)
NM_018127.7(ELAC2):c.554T>C (p.Ile185Thr)
NM_018127.7(ELAC2):c.557A>G (p.His186Arg)
NM_018127.7(ELAC2):c.559+12del
NM_018127.7(ELAC2):c.559+18G>A rs2041518961
NM_018127.7(ELAC2):c.559+7A>G
NM_018127.7(ELAC2):c.559+8T>C rs2143669591
NM_018127.7(ELAC2):c.560-12T>C
NM_018127.7(ELAC2):c.560-15A>G rs2041429226
NM_018127.7(ELAC2):c.560-18G>A
NM_018127.7(ELAC2):c.560-1G>A rs2143661948
NM_018127.7(ELAC2):c.560-6G>A rs2143661977
NM_018127.7(ELAC2):c.56_73del (p.Gly19_Gln24del) rs771710773
NM_018127.7(ELAC2):c.576A>G (p.Gly192=) rs1410606129
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_018127.7(ELAC2):c.593A>G (p.Gln198Arg)
NM_018127.7(ELAC2):c.595A>G (p.Ser199Gly) rs1693923229
NM_018127.7(ELAC2):c.597T>A (p.Ser199Arg)
NM_018127.7(ELAC2):c.604A>G (p.Arg202Gly)
NM_018127.7(ELAC2):c.606G>A (p.Arg202=)
NM_018127.7(ELAC2):c.613A>G (p.Ser205Gly) rs2143661549
NM_018127.7(ELAC2):c.621C>T (p.Leu207=)
NM_018127.7(ELAC2):c.627A>G (p.Pro209=)
NM_018127.7(ELAC2):c.63C>A (p.Thr21=)
NM_018127.7(ELAC2):c.640G>C (p.Asp214His)
NM_018127.7(ELAC2):c.646G>A (p.Glu216Lys) rs1382116568
NM_018127.7(ELAC2):c.660T>C (p.Asn220=)
NM_018127.7(ELAC2):c.660T>G (p.Asn220Lys)
NM_018127.7(ELAC2):c.665C>G (p.Pro222Arg) rs2143661121
NM_018127.7(ELAC2):c.667C>T (p.His223Tyr) rs1335862034
NM_018127.7(ELAC2):c.66A>G (p.Ile22Met) rs2041840491
NM_018127.7(ELAC2):c.679+11A>G rs937695443
NM_018127.7(ELAC2):c.679+14C>G
NM_018127.7(ELAC2):c.680-12G>C
NM_018127.7(ELAC2):c.680-14G>A
NM_018127.7(ELAC2):c.680-16G>C
NM_018127.7(ELAC2):c.684T>C (p.Val228=)
NM_018127.7(ELAC2):c.689A>G (p.Gln230Arg)
NM_018127.7(ELAC2):c.692G>A (p.Arg231Lys) rs1259675163
NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)
NM_018127.7(ELAC2):c.714C>G (p.Ser238=)
NM_018127.7(ELAC2):c.720C>T (p.Val240=)
NM_018127.7(ELAC2):c.738+12T>A
NM_018127.7(ELAC2):c.738+13T>C
NM_018127.7(ELAC2):c.738+14T>G
NM_018127.7(ELAC2):c.738+15C>G
NM_018127.7(ELAC2):c.739-13_739-9del
NM_018127.7(ELAC2):c.739-20C>G
NM_018127.7(ELAC2):c.744C>G (p.His248Gln)
NM_018127.7(ELAC2):c.751A>T (p.Arg251Ter) rs397515464
NM_018127.7(ELAC2):c.752G>A (p.Arg251Lys) rs2041085908
NM_018127.7(ELAC2):c.75A>C (p.Ala25=)
NM_018127.7(ELAC2):c.766del (p.Val256fs) rs2041085400
NM_018127.7(ELAC2):c.792C>T (p.Leu264=)
NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala)
NM_018127.7(ELAC2):c.797+11G>C
NM_018127.7(ELAC2):c.797+14del rs748817791
NM_018127.7(ELAC2):c.797+16A>G rs895800256
NM_018127.7(ELAC2):c.797+1G>A
NM_018127.7(ELAC2):c.797+20C>T
NM_018127.7(ELAC2):c.797+8T>C
NM_018127.7(ELAC2):c.797+8T>G
NM_018127.7(ELAC2):c.797+8_797+9del
NM_018127.7(ELAC2):c.797+9G>A
NM_018127.7(ELAC2):c.797+9G>C rs762820869
NM_018127.7(ELAC2):c.798-19C>T
NM_018127.7(ELAC2):c.814G>T (p.Ala272Ser) rs765353090
NM_018127.7(ELAC2):c.828T>C (p.Ala276=)
NM_018127.7(ELAC2):c.838G>A (p.Asp280Asn) rs953161128
NM_018127.7(ELAC2):c.83G>A (p.Arg28His) rs1192697057
NM_018127.7(ELAC2):c.840C>G (p.Asp280Glu) rs369092504
NM_018127.7(ELAC2):c.851_853del (p.Ile284del) rs2041067692
NM_018127.7(ELAC2):c.855T>C (p.Thr285=)
NM_018127.7(ELAC2):c.858T>C (p.His286=)
NM_018127.7(ELAC2):c.85_86delinsTT (p.Arg29Phe) rs2143697792
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)
NM_018127.7(ELAC2):c.871-10G>A
NM_018127.7(ELAC2):c.871-11del rs781302974
NM_018127.7(ELAC2):c.871-18G>A
NM_018127.7(ELAC2):c.871-9G>C rs750378111
NM_018127.7(ELAC2):c.87C>G (p.Arg29=)
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
NM_018127.7(ELAC2):c.897T>C (p.Pro299=)
NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly)
NM_018127.7(ELAC2):c.900A>G (p.Pro300=) rs1567758616
NM_018127.7(ELAC2):c.908G>T (p.Gly303Val) rs188256643
NM_018127.7(ELAC2):c.921G>C (p.Val307=)
NM_018127.7(ELAC2):c.924G>C (p.Val308=) rs2143621668
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala) rs1555576642
NM_018127.7(ELAC2):c.934C>T (p.Pro312Ser) rs912946000
NM_018127.7(ELAC2):c.949A>G (p.Ile317Val) rs2041026993
NM_018127.7(ELAC2):c.957C>T (p.Pro319=)
NM_018127.7(ELAC2):c.972C>T (p.Ala324=)
NM_018127.7(ELAC2):c.975C>G (p.Thr325=)
NM_018127.7(ELAC2):c.983+17A>G
NM_018127.7(ELAC2):c.983+19G>A
NM_018127.7(ELAC2):c.984-15C>T
NM_018127.7(ELAC2):c.984-2A>G
NM_018127.7(ELAC2):c.984-3del
NM_018127.7(ELAC2):c.984-4C>T rs1375270986
NM_018127.7(ELAC2):c.984-5C>T rs752324594
NM_018127.7(ELAC2):c.984-8C>A rs2143613374
NM_018127.7(ELAC2):c.996G>A (p.Lys332=)
NM_018127.7(ELAC2):c.997G>A (p.Ala333Thr) rs2143613231
NM_018127.7(ELAC2):c.998C>T (p.Ala333Val)
NM_018127.7(ELAC2):c.9G>T (p.Ala3=)
NM_018127.7(ELAC2):c.[1218+3A>C;2009del]
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu) rs1562173313
NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu) rs1777047446
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val) rs1562168768
NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter) rs763443331
NM_018292.5(QRSL1):c.557+49_557+50del rs3040665
NM_018292.5(QRSL1):c.677C>T (p.Ser226Leu)
NM_019095.6(CRLS1):c.326T>A (p.Ile109Asn)
NM_019095.6(CRLS1):c.515C>A (p.Ala172Asp)
NM_019095.6(CRLS1):c.649C>T (p.Leu217Phe)
NM_020191.4(MRPS22):c.1045T>A (p.Tyr349Asn) rs886058024
NM_020191.4(MRPS22):c.318G>A (p.Met106Ile) rs973338617
NM_020191.4(MRPS22):c.433G>T (p.Asp145Tyr)
NM_020191.4(MRPS22):c.481dup (p.Ile161fs)
NM_020191.4(MRPS22):c.600A>C (p.Glu200Asp) rs1941120713
NM_020191.4(MRPS22):c.644T>C (p.Leu215Pro) rs387906924
NM_020191.4(MRPS22):c.648+19del rs773240427
NM_020191.4(MRPS22):c.648+1G>T
NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly) rs1176249861
NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr) rs761121831
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs) rs775852045
NM_020191.4(MRPS22):c.878+13T>C rs1941178559
NM_020191.4(MRPS22):c.943C>T (p.Gln315Ter)
NM_020191.4(MRPS22):c.987+15del rs372892045
NM_020191.4(MRPS22):c.992_993del (p.Phe331fs)
NM_020408.6(LYRM4):c.-11_-10dup rs561083109
NM_020408.6(LYRM4):c.203G>T (p.Arg68Leu) rs587777218
NM_020408.6(LYRM4):c.7G>A (p.Ala3Thr) rs1301142742
NM_020442.6(VARS2):c.-18_-12del rs1794042527
NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr) rs587777583
NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter)
NM_020442.6(VARS2):c.1166-15G>T rs2150559040
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
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.1625A>G (p.His542Arg) rs2150561733
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val) rs761726567
NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp) rs587777584
NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr) rs772718755
NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter) rs2150570235
NM_020442.6(VARS2):c.2758T>C (p.Tyr920His) rs1794768738
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs) rs1794789052
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg) rs773482888
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe) rs1562465419
NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)
NM_020442.6(VARS2):c.420del (p.Met141fs)
NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)
NM_020442.6(VARS2):c.574-42_574-35del rs57637932
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)
NM_020442.6(VARS2):c.986-14A>G rs1297230026
NM_020745.4(AARS2):c.*1045G>A rs527281365
NM_020745.4(AARS2):c.*1112dup rs112521684
NM_020745.4(AARS2):c.*1252A>C rs886061482
NM_020745.4(AARS2):c.*1284_*1287del rs201274623
NM_020745.4(AARS2):c.*1284del rs35562884
NM_020745.4(AARS2):c.*1326A>G rs370057942
NM_020745.4(AARS2):c.*1473G>T rs116579451
NM_020745.4(AARS2):c.*1536G>C rs548185310
NM_020745.4(AARS2):c.*1549C>T rs886061480
NM_020745.4(AARS2):c.*155C>T rs1785260425
NM_020745.4(AARS2):c.*1603C>G rs886061479
NM_020745.4(AARS2):c.*1635_*1636insAA rs34687863
NM_020745.4(AARS2):c.*1710G>T rs1056093
NM_020745.4(AARS2):c.*1720C>T rs140886261
NM_020745.4(AARS2):c.*279G>A rs886061483
NM_020745.4(AARS2):c.*555_*556insATAAA rs111990690
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT rs112092257
NM_020745.4(AARS2):c.*683C>G rs764440099
NM_020745.4(AARS2):c.1040+1G>A rs1561941287
NM_020745.4(AARS2):c.1041-29A>G rs7740535
NM_020745.4(AARS2):c.1041G>A (p.Pro347=) rs1258430421
NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro) rs1785916519
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe) rs2153355304
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter) rs1561940254
NM_020745.4(AARS2):c.1644C>T (p.Ser548=) rs377764395
NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) rs886061488
NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro) rs1561938413
NM_020745.4(AARS2):c.2202G>A (p.Leu734=) rs886061486
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr) rs1554147776
NM_020745.4(AARS2):c.2487+1G>C rs2153353848
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) rs1170907347
NM_020745.4(AARS2):c.2599-1G>A rs1785349774
NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) rs537231845
NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp) rs770826503
NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly) rs145086947
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp) rs145086947
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820
NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser) rs886061485
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter) rs1785274253
NM_020745.4(AARS2):c.2937C>G (p.Thr979=) rs200778121
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) rs562829310
NM_020745.4(AARS2):c.408T>C (p.Asn136=) rs886061490
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter) rs1786349461
NM_020745.4(AARS2):c.472C>A (p.Gln158Lys) rs759138272
NM_020745.4(AARS2):c.57G>C (p.Ser19=) rs1049916671
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_020745.4(AARS2):c.649C>T (p.Pro217Ser) rs1786310363
NM_020745.4(AARS2):c.750-9C>T rs1786252044
NM_020745.4(AARS2):c.790G>A (p.Val264Met) rs2153356902
NM_020745.4(AARS2):c.845C>G (p.Ser282Cys) rs2153356880
NM_020745.4(AARS2):c.879C>T (p.Leu293=) rs886061489
NM_020810.3(TRMT5):c.1218G>C (p.Gln406His) rs1566589376
NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu) rs978146113
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_021100.5(NFS1):c.823C>T (p.Arg275Cys)
NM_022072.5(NSUN3):c.123-615_466+2155del
NM_022072.5(NSUN3):c.421G>C (p.Ala141Pro) rs2077283982
NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser) rs2077284206
NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys) rs990763738
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln) rs761343107
NM_022915.5(MRPL44):c.467T>C (p.Leu156Pro) rs143697995
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_022915.5(MRPL44):c.481_484delinsTC (p.Thr161fs) rs2106116608
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter) rs1574796091
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)
NM_024537.3(CARS2):c.1194del rs1475142913
NM_024537.4(CARS2):c.1006T>G (p.Ser336Ala) rs1594239546
NM_024537.4(CARS2):c.1007C>T (p.Ser336Phe) rs556565233
NM_024537.4(CARS2):c.1008C>G (p.Ser336=)
NM_024537.4(CARS2):c.1025TCT[1] (p.Phe343del) rs1420184025
NM_024537.4(CARS2):c.1038del (p.Ser347fs) rs2139700269
NM_024537.4(CARS2):c.1040_1041delinsTT (p.Ser347Ile) rs2139700229
NM_024537.4(CARS2):c.1041C>T (p.Ser347=) rs763055454
NM_024537.4(CARS2):c.1048C>G (p.Arg350Gly) rs773231493
NM_024537.4(CARS2):c.1054+11C>G
NM_024537.4(CARS2):c.1054+12A>G
NM_024537.4(CARS2):c.1054+13C>T
NM_024537.4(CARS2):c.1054+15C>G
NM_024537.4(CARS2):c.1054+15C>T
NM_024537.4(CARS2):c.1054+18G>A rs932427630
NM_024537.4(CARS2):c.1055-11T>C
NM_024537.4(CARS2):c.1055-11_1055-10del rs2139684399
NM_024537.4(CARS2):c.1055-17C>G
NM_024537.4(CARS2):c.1055-18C>A
NM_024537.4(CARS2):c.1055-3C>T
NM_024537.4(CARS2):c.1059C>A (p.Ile353=)
NM_024537.4(CARS2):c.1059C>G (p.Ile353Met) rs200079151
NM_024537.4(CARS2):c.1060G>A (p.Asp354Asn)
NM_024537.4(CARS2):c.1068T>C (p.Ser356=)
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
NM_024537.4(CARS2):c.1071C>T (p.Asp357=) rs200826696
NM_024537.4(CARS2):c.1075G>A (p.Ala359Thr) rs570568500
NM_024537.4(CARS2):c.107G>C (p.Gly36Ala) rs1271844931
NM_024537.4(CARS2):c.107G>T (p.Gly36Val)
NM_024537.4(CARS2):c.1086A>G (p.Gln362=) rs551971117
NM_024537.4(CARS2):c.108G>A (p.Gly36=)
NM_024537.4(CARS2):c.108G>C (p.Gly36=)
NM_024537.4(CARS2):c.10A>G (p.Thr4Ala) rs1037184355
NM_024537.4(CARS2):c.1104G>A (p.Leu368=)
NM_024537.4(CARS2):c.1109T>A (p.Leu370Gln) rs1888250085
NM_024537.4(CARS2):c.1126G>A (p.Asp376Asn) rs1270277121
NM_024537.4(CARS2):c.112C>T (p.Arg38Cys) rs776199362
NM_024537.4(CARS2):c.1138T>C (p.Tyr380His) rs1888244220
NM_024537.4(CARS2):c.1140C>T (p.Tyr380=)
NM_024537.4(CARS2):c.1157C>T (p.Ala386Val) rs1186393420
NM_024537.4(CARS2):c.115G>T (p.Gly39Trp) rs1330266756
NM_024537.4(CARS2):c.1168G>A (p.Val390Ile) rs138372705
NM_024537.4(CARS2):c.1168G>C (p.Val390Leu) rs138372705
NM_024537.4(CARS2):c.1177G>A (p.Ala393Thr) rs868498923
NM_024537.4(CARS2):c.1179G>A (p.Ala393=)
NM_024537.4(CARS2):c.117G>T (p.Gly39=) rs1324528918
NM_024537.4(CARS2):c.118C>A (p.Arg40=) rs1426766304
NM_024537.4(CARS2):c.1192_1193del (p.Arg398fs)
NM_024537.4(CARS2):c.1193+16A>C rs2139683484
NM_024537.4(CARS2):c.1193+20C>A
NM_024537.4(CARS2):c.1193+5G>T
NM_024537.4(CARS2):c.1193G>A (p.Arg398Lys)
NM_024537.4(CARS2):c.1194-13C>T
NM_024537.4(CARS2):c.1194-16dup
NM_024537.4(CARS2):c.1194-17C>T
NM_024537.4(CARS2):c.1194-20G>A
NM_024537.4(CARS2):c.1197C>G (p.Leu399=)
NM_024537.4(CARS2):c.1206C>G (p.Thr402=)
NM_024537.4(CARS2):c.1212G>A (p.Arg404=)
NM_024537.4(CARS2):c.1215C>T (p.Ala405=)
NM_024537.4(CARS2):c.1216G>A (p.Val406Met)
NM_024537.4(CARS2):c.1227dup (p.Ala411fs) rs2139679613
NM_024537.4(CARS2):c.122C>A (p.Ala41Asp)
NM_024537.4(CARS2):c.1230G>A (p.Leu410=)
NM_024537.4(CARS2):c.1253G>A (p.Arg418Lys)
NM_024537.4(CARS2):c.1286A>G (p.His429Arg)
NM_024537.4(CARS2):c.1291A>G (p.Asn431Asp)
NM_024537.4(CARS2):c.1295G>T (p.Gly432Val)
NM_024537.4(CARS2):c.1296A>G (p.Gly432=) rs1351991696
NM_024537.4(CARS2):c.12_33dup (p.Pro12fs) rs1415686449
NM_024537.4(CARS2):c.1306del (p.Ala436fs) rs1473469742
NM_024537.4(CARS2):c.1308_1317+5del rs2139679182
NM_024537.4(CARS2):c.1310C>A (p.Ser437Tyr) rs750186107
NM_024537.4(CARS2):c.1311_1312insTTC (p.Ser437_Leu438insPhe) rs1339301287
NM_024537.4(CARS2):c.1312C>T (p.Leu438=)
NM_024537.4(CARS2):c.1313T>G (p.Leu438Arg) rs2139679199
NM_024537.4(CARS2):c.1317+17G>A
NM_024537.4(CARS2):c.1318-18C>G
NM_024537.4(CARS2):c.1318-8T>A rs1044806231
NM_024537.4(CARS2):c.133C>A (p.Pro45Thr)
NM_024537.4(CARS2):c.1356C>T (p.Ala452=) rs2139674418
NM_024537.4(CARS2):c.1358T>C (p.Ile453Thr)
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802
NM_024537.4(CARS2):c.1368C>T (p.Tyr456=)
NM_024537.4(CARS2):c.1374A>G (p.Glu458=)
NM_024537.4(CARS2):c.1377G>A (p.Gln459=)
NM_024537.4(CARS2):c.1391T>C (p.Val464Ala)
NM_024537.4(CARS2):c.1402C>G (p.Leu468Val)
NM_024537.4(CARS2):c.1416+10A>T rs1887805574
NM_024537.4(CARS2):c.1416+5G>A
NM_024537.4(CARS2):c.1416G>A (p.Gln472=)
NM_024537.4(CARS2):c.1417-14C>A
NM_024537.4(CARS2):c.1417-18G>A
NM_024537.4(CARS2):c.1417-20C>T
NM_024537.4(CARS2):c.1417-2A>C
NM_024537.4(CARS2):c.1417-57dup rs11414164
NM_024537.4(CARS2):c.1417T>G (p.Tyr473Asp) rs1479335550
NM_024537.4(CARS2):c.1418A>G (p.Tyr473Cys) rs1232251739
NM_024537.4(CARS2):c.1419C>T (p.Tyr473=)
NM_024537.4(CARS2):c.141C>T (p.Gly47=) rs749408803
NM_024537.4(CARS2):c.1420G>A (p.Val474Ile) rs774709224
NM_024537.4(CARS2):c.1426G>A (p.Gly476Arg)
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter) rs1887501594
NM_024537.4(CARS2):c.1427G>T (p.Gly476Val) rs902904499
NM_024537.4(CARS2):c.1430A>G (p.Asp477Gly) rs1887500330
NM_024537.4(CARS2):c.1438G>A (p.Glu480Lys) rs192532265
NM_024537.4(CARS2):c.1438G>C (p.Glu480Gln) rs192532265
NM_024537.4(CARS2):c.143G>T (p.Arg48Leu)
NM_024537.4(CARS2):c.144G>A (p.Arg48=) rs2139947251
NM_024537.4(CARS2):c.1454G>A (p.Gly485Asp)
NM_024537.4(CARS2):c.1457_1473dup (p.Arg492fs) rs2139667373
NM_024537.4(CARS2):c.1459G>C (p.Val487Leu)
NM_024537.4(CARS2):c.1475G>C (p.Arg492Pro)
NM_024537.4(CARS2):c.1476G>A (p.Arg492=) rs1004975550
NM_024537.4(CARS2):c.1482G>C (p.Arg494=)
NM_024537.4(CARS2):c.1485G>A (p.Gln495=) rs781269830
NM_024537.4(CARS2):c.1486_1497del (p.Lys496_Gln499del) rs1018661935
NM_024537.4(CARS2):c.1489dup (p.Val497fs) rs1328662776
NM_024537.4(CARS2):c.1490T>C (p.Val497Ala)
NM_024537.4(CARS2):c.1492C>A (p.Arg498=) rs758217572
NM_024537.4(CARS2):c.1493G>A (p.Arg498Gln) rs778546592
NM_024537.4(CARS2):c.1493G>C (p.Arg498Pro)
NM_024537.4(CARS2):c.1499T>G (p.Phe500Cys)
NM_024537.4(CARS2):c.149C>T (p.Thr50Met) rs756212584
NM_024537.4(CARS2):c.1502C>T (p.Ala501Val) rs756833981
NM_024537.4(CARS2):c.1503G>T (p.Ala501=)
NM_024537.4(CARS2):c.1504C>A (p.Leu502Met) rs2139667208
NM_024537.4(CARS2):c.1508C>T (p.Ala503Val)
NM_024537.4(CARS2):c.1510A>G (p.Met504Val) rs762583126
NM_024537.4(CARS2):c.1512G>A (p.Met504Ile)
NM_024537.4(CARS2):c.1523C>A (p.Thr508Lys)
NM_024537.4(CARS2):c.1524G>C (p.Thr508=)
NM_024537.4(CARS2):c.1527G>A (p.Gly509=)
NM_024537.4(CARS2):c.1528G>A (p.Asp510Asn) rs1195458572
NM_024537.4(CARS2):c.1540C>A (p.Gln514Lys) rs953211656
NM_024537.4(CARS2):c.1540C>T (p.Gln514Ter) rs953211656
NM_024537.4(CARS2):c.155T>G (p.Val52Gly) rs1566366322
NM_024537.4(CARS2):c.1568T>C (p.Leu523Pro) rs2139666898
NM_024537.4(CARS2):c.1570G>A (p.Glu524Lys) rs1214379430
NM_024537.4(CARS2):c.1570G>C (p.Glu524Gln) rs1214379430
NM_024537.4(CARS2):c.1574C>T (p.Ala525Val) rs750963303
NM_024537.4(CARS2):c.1596C>T (p.Gly532=) rs2139666777
NM_024537.4(CARS2):c.1598T>C (p.Leu533Pro) rs2139666763
NM_024537.4(CARS2):c.1599G>A (p.Leu533=)
NM_024537.4(CARS2):c.160G>T (p.Val54Leu)
NM_024537.4(CARS2):c.1615A>C (p.Asn539His)
NM_024537.4(CARS2):c.1623+12A>C rs2139666607
NM_024537.4(CARS2):c.1623+17G>A rs550431344
NM_024537.4(CARS2):c.1623+17G>C
NM_024537.4(CARS2):c.1623+18G>T
NM_024537.4(CARS2):c.1623+19del
NM_024537.4(CARS2):c.1623+3G>C rs554100218
NM_024537.4(CARS2):c.1623+4A>G rs1887454172
NM_024537.4(CARS2):c.1623+9C>G
NM_024537.4(CARS2):c.1624-10T>C rs1887301664
NM_024537.4(CARS2):c.1624-13TCT[4] rs763325378
NM_024537.4(CARS2):c.1624-15_1624-14del
NM_024537.4(CARS2):c.1624-1_1624inv
NM_024537.4(CARS2):c.1624-7T>C
NM_024537.4(CARS2):c.1624-9C>T rs2139663645
NM_024537.4(CARS2):c.1627A>G (p.Arg543Gly) rs1887298440
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser) rs1594195081
NM_024537.4(CARS2):c.1630A>G (p.Ser544Gly) rs1887297938
NM_024537.4(CARS2):c.1634G>C (p.Ser545Thr) rs754579725
NM_024537.4(CARS2):c.1635T>C (p.Ser545=) rs1284618994
NM_024537.4(CARS2):c.1637C>T (p.Thr546Ile)
NM_024537.4(CARS2):c.1644C>G (p.Ser548=) rs1456791733
NM_024537.4(CARS2):c.1648T>G (p.Trp550Gly) rs2139663433
NM_024537.4(CARS2):c.164A>G (p.Tyr55Cys)
NM_024537.4(CARS2):c.1654C>A (p.Leu552Met)
NM_024537.4(CARS2):c.1662T>C (p.Asp554=)
NM_024537.4(CARS2):c.1678C>T (p.Gln560Ter)
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) rs575601185
NM_024537.4(CARS2):c.1684_1685insA (p.Ser562fs) rs1887287265
NM_024537.4(CARS2):c.1692C>G (p.Gly564=) rs1415215167
NM_024537.4(CARS2):c.1692_1693insGG (p.Ter565GlyextTer?)
NM_024537.4(CARS2):c.1693T>G (p.Ter565Gly) rs1594194614
NM_024537.4(CARS2):c.1695A>C (p.Ter565Cys)
NM_024537.4(CARS2):c.179G>A (p.Gly60Glu) rs868325979
NM_024537.4(CARS2):c.193C>T (p.Leu65=)
NM_024537.4(CARS2):c.19G>A (p.Gly7Ser)
NM_024537.4(CARS2):c.1A>G (p.Met1Val) rs1456556476
NM_024537.4(CARS2):c.1A>T (p.Met1Leu) rs1456556476
NM_024537.4(CARS2):c.200T>C (p.Val67Ala) rs1566366122
NM_024537.4(CARS2):c.204del (p.His69fs)
NM_024537.4(CARS2):c.217G>A (p.Ala73Thr) rs761282112
NM_024537.4(CARS2):c.221C>T (p.Ser74Phe) rs2063932913
NM_024537.4(CARS2):c.223T>C (p.Trp75Arg)
NM_024537.4(CARS2):c.224+10G>A rs569593326
NM_024537.4(CARS2):c.224+10G>T rs569593326
NM_024537.4(CARS2):c.224+5G>A rs1594436730
NM_024537.4(CARS2):c.224+7C>A
NM_024537.4(CARS2):c.224+7C>T
NM_024537.4(CARS2):c.225-4C>T rs747129497
NM_024537.4(CARS2):c.225-5del
NM_024537.4(CARS2):c.232T>C (p.Cys78Arg) rs2139945104
NM_024537.4(CARS2):c.238C>A (p.Pro80Thr) rs1408025958
NM_024537.4(CARS2):c.243T>C (p.Thr81=)
NM_024537.4(CARS2):c.24A>T (p.Pro8=) rs1398511016
NM_024537.4(CARS2):c.24_35del (p.Gly9_Pro12del)
NM_024537.4(CARS2):c.254_255del (p.His85fs) rs1204835445
NM_024537.4(CARS2):c.255T>C (p.His85=)
NM_024537.4(CARS2):c.258G>C (p.Ala86=)
NM_024537.4(CARS2):c.25G>C (p.Gly9Arg) rs1465681823
NM_024537.4(CARS2):c.262C>T (p.Leu88Phe) rs1450978669
NM_024537.4(CARS2):c.270T>C (p.His90=) rs529804222
NM_024537.4(CARS2):c.275+12G>A
NM_024537.4(CARS2):c.275+5G>A
NM_024537.4(CARS2):c.276-12T>C
NM_024537.4(CARS2):c.276-14dup rs1305873567
NM_024537.4(CARS2):c.276-15C>T
NM_024537.4(CARS2):c.276-7C>G
NM_024537.4(CARS2):c.279A>G (p.Ser93=)
NM_024537.4(CARS2):c.27C>T (p.Gly9=) rs1270397975
NM_024537.4(CARS2):c.281A>G (p.Tyr94Cys) rs775441980
NM_024537.4(CARS2):c.282T>A (p.Tyr94Ter) rs374089139
NM_024537.4(CARS2):c.282T>C (p.Tyr94=)
NM_024537.4(CARS2):c.29T>C (p.Leu10Pro) rs1326381296
NM_024537.4(CARS2):c.2T>C (p.Met1Thr) rs774110184
NM_024537.4(CARS2):c.301C>T (p.Arg101Ter) rs777672253
NM_024537.4(CARS2):c.302G>T (p.Arg101Leu) rs112070421
NM_024537.4(CARS2):c.308T>G (p.Ile103Ser)
NM_024537.4(CARS2):c.30G>C (p.Leu10=)
NM_024537.4(CARS2):c.31G>T (p.Gly11Cys)
NM_024537.4(CARS2):c.323T>C (p.Phe108Ser) rs201577762
NM_024537.4(CARS2):c.323T>G (p.Phe108Cys) rs201577762
NM_024537.4(CARS2):c.33C>T (p.Gly11=) rs907423199
NM_024537.4(CARS2):c.342G>A (p.Met114Ile) rs139689196
NM_024537.4(CARS2):c.344T>C (p.Val115Ala)
NM_024537.4(CARS2):c.354T>C (p.Ile118=)
NM_024537.4(CARS2):c.376A>G (p.Ile126Val) rs150341415
NM_024537.4(CARS2):c.37C>T (p.Pro13Ser)
NM_024537.4(CARS2):c.383G>C (p.Arg128Thr) rs1368783369
NM_024537.4(CARS2):c.38C>T (p.Pro13Leu) rs948688494
NM_024537.4(CARS2):c.38del (p.Pro13fs) rs1412483498
NM_024537.4(CARS2):c.393+5G>A rs2139928226
NM_024537.4(CARS2):c.394-10C>A rs1294731262
NM_024537.4(CARS2):c.394-13A>C rs575543110
NM_024537.4(CARS2):c.394-19A>G
NM_024537.4(CARS2):c.394-20C>A
NM_024537.4(CARS2):c.394A>T (p.Met132Leu) rs2063353822
NM_024537.4(CARS2):c.3G>T (p.Met1Ile) rs2139948769
NM_024537.4(CARS2):c.408C>G (p.Pro136=) rs755243580
NM_024537.4(CARS2):c.409G>A (p.Ala137Thr)
NM_024537.4(CARS2):c.419C>T (p.Ala140Val)
NM_024537.4(CARS2):c.428A>G (p.Tyr143Cys)
NM_024537.4(CARS2):c.431A>G (p.Glu144Gly) rs150606981
NM_024537.4(CARS2):c.441C>T (p.Phe147=)
NM_024537.4(CARS2):c.444G>A (p.Lys148=) rs2139860984
NM_024537.4(CARS2):c.465+17G>A rs1460353616
NM_024537.4(CARS2):c.465+3A>G
NM_024537.4(CARS2):c.465+8G>C
NM_024537.4(CARS2):c.466-14C>G
NM_024537.4(CARS2):c.466-17T>G
NM_024537.4(CARS2):c.466-19C>T
NM_024537.4(CARS2):c.466-1G>A rs770282381
NM_024537.4(CARS2):c.466-8C>T
NM_024537.4(CARS2):c.48G>A (p.Gln16=) rs2139948147
NM_024537.4(CARS2):c.498C>T (p.Thr166=)
NM_024537.4(CARS2):c.499G>A (p.Glu167Lys) rs753936012
NM_024537.4(CARS2):c.516A>G (p.Ile172Met) rs2063344998
NM_024537.4(CARS2):c.526A>G (p.Ile176Val)
NM_024537.4(CARS2):c.527T>G (p.Ile176Ser) rs767243208
NM_024537.4(CARS2):c.535A>C (p.Ile179Leu) rs751237567
NM_024537.4(CARS2):c.53C>T (p.Ala18Val)
NM_024537.4(CARS2):c.542C>T (p.Ala181Val) rs1443254892
NM_024537.4(CARS2):c.55C>T (p.Leu19=)
NM_024537.4(CARS2):c.562A>G (p.Thr188Ala) rs1594372405
NM_024537.4(CARS2):c.564G>C (p.Thr188=) rs76988055
NM_024537.4(CARS2):c.566C>T (p.Ala189Val) rs1456864472
NM_024537.4(CARS2):c.571+10A>G
NM_024537.4(CARS2):c.571+12G>A
NM_024537.4(CARS2):c.571+2T>C rs749363417
NM_024537.4(CARS2):c.572-15T>A rs2139840036
NM_024537.4(CARS2):c.572-3_572-2del rs201758363
NM_024537.4(CARS2):c.575A>G (p.Asn192Ser) rs1270654557
NM_024537.4(CARS2):c.579C>T (p.Val193=) rs2139839935
NM_024537.4(CARS2):c.57G>A (p.Leu19=) rs2139948102
NM_024537.4(CARS2):c.5T>G (p.Leu2Trp) rs2063949254
NM_024537.4(CARS2):c.606C>T (p.Asp202=)
NM_024537.4(CARS2):c.60C>G (p.Gly20=)
NM_024537.4(CARS2):c.625G>A (p.Gly209Ser)
NM_024537.4(CARS2):c.625G>T (p.Gly209Cys) rs760043245
NM_024537.4(CARS2):c.627C>T (p.Gly209=)
NM_024537.4(CARS2):c.641C>T (p.Pro214Leu) rs543389950
NM_024537.4(CARS2):c.642A>T (p.Pro214=) rs2139839611
NM_024537.4(CARS2):c.645C>G (p.Val215=) rs776642452
NM_024537.4(CARS2):c.655+11C>T
NM_024537.4(CARS2):c.655+12G>A rs564003779
NM_024537.4(CARS2):c.655+12G>T
NM_024537.4(CARS2):c.655+7T>G rs1594357007
NM_024537.4(CARS2):c.655+8G>A
NM_024537.4(CARS2):c.655G>C (p.Ala219Pro) rs727505361
NM_024537.4(CARS2):c.656-11G>A
NM_024537.4(CARS2):c.656-11_656-10del rs755642642
NM_024537.4(CARS2):c.656-15G>A
NM_024537.4(CARS2):c.656-16C>A rs755708345
NM_024537.4(CARS2):c.656-18A>C
NM_024537.4(CARS2):c.656-9C>T
NM_024537.4(CARS2):c.656C>T (p.Ala219Val) rs541127961
NM_024537.4(CARS2):c.666C>A (p.Asp222Glu) rs1555351973
NM_024537.4(CARS2):c.666C>G (p.Asp222Glu) rs1555351973
NM_024537.4(CARS2):c.66G>C (p.Gly22=)
NM_024537.4(CARS2):c.670C>T (p.Arg224Cys) rs1323009856
NM_024537.4(CARS2):c.676G>T (p.Ala226Ser)
NM_024537.4(CARS2):c.68_71dup (p.His27fs)
NM_024537.4(CARS2):c.700del (p.Ala234fs) rs2139808347
NM_024537.4(CARS2):c.717G>A (p.Glu239=)
NM_024537.4(CARS2):c.728C>T (p.Ala243Val) rs2062971648
NM_024537.4(CARS2):c.742C>G (p.Pro248Ala) rs1465849835
NM_024537.4(CARS2):c.756C>A (p.Gly252=) rs1266795670
NM_024537.4(CARS2):c.765C>T (p.Ile255=) rs764405976
NM_024537.4(CARS2):c.771C>G (p.Cys257Trp)
NM_024537.4(CARS2):c.781G>A (p.Ala261Thr) rs374751888
NM_024537.4(CARS2):c.781G>T (p.Ala261Ser) rs374751888
NM_024537.4(CARS2):c.783T>C (p.Ala261=)
NM_024537.4(CARS2):c.785+14C>T
NM_024537.4(CARS2):c.785G>C (p.Ser262Thr)
NM_024537.4(CARS2):c.786-16G>A
NM_024537.4(CARS2):c.786-16G>C
NM_024537.4(CARS2):c.786-16G>T rs548625666
NM_024537.4(CARS2):c.786-3C>T
NM_024537.4(CARS2):c.786-6T>C rs1372358723
NM_024537.4(CARS2):c.788T>C (p.Met263Thr) rs2139765950
NM_024537.4(CARS2):c.805C>T (p.Leu269=)
NM_024537.4(CARS2):c.816T>C (p.His272=) rs2062680503
NM_024537.4(CARS2):c.819A>C (p.Ser273=)
NM_024537.4(CARS2):c.819A>G (p.Ser273=) rs773063187
NM_024537.4(CARS2):c.843A>C (p.Pro281=)
NM_024537.4(CARS2):c.845A>G (p.His282Arg) rs2139765647
NM_024537.4(CARS2):c.851_852delinsGG (p.Glu284Gly) rs1594296703
NM_024537.4(CARS2):c.856G>A (p.Glu286Lys)
NM_024537.4(CARS2):c.859A>G (p.Ile287Val)
NM_024537.4(CARS2):c.85C>T (p.Pro29Ser) rs934745570
NM_024537.4(CARS2):c.868T>C (p.Cys290Arg) rs1240392926
NM_024537.4(CARS2):c.874G>A (p.Val292Ile) rs1213190525
NM_024537.4(CARS2):c.875T>C (p.Val292Ala) rs778341096
NM_024537.4(CARS2):c.878_879del (p.Phe293fs) rs1258446331
NM_024537.4(CARS2):c.881A>G (p.His294Arg) rs1209069182
NM_024537.4(CARS2):c.885G>A (p.Gln295=)
NM_024537.4(CARS2):c.886T>G (p.Cys296Gly) rs751712957
NM_024537.4(CARS2):c.888C>A (p.Cys296Ter) rs780225759
NM_024537.4(CARS2):c.889G>A (p.Glu297Lys) rs368410574
NM_024537.4(CARS2):c.894G>A (p.Gln298=)
NM_024537.4(CARS2):c.914A>G (p.His305Arg) rs761552163
NM_024537.4(CARS2):c.919+14T>C
NM_024537.4(CARS2):c.919+18A>G
NM_024537.4(CARS2):c.919+8A>C
NM_024537.4(CARS2):c.919+8A>G rs2062677132
NM_024537.4(CARS2):c.920-3C>G
NM_024537.4(CARS2):c.920-8del rs2139748776
NM_024537.4(CARS2):c.921G>T (p.Gly307=)
NM_024537.4(CARS2):c.922C>G (p.His308Asp) rs2062566720
NM_024537.4(CARS2):c.931G>A (p.Ala311Thr) rs763808514
NM_024537.4(CARS2):c.943GAA[1] (p.Glu316del) rs2062565908
NM_024537.4(CARS2):c.946G>A (p.Glu316Lys)
NM_024537.4(CARS2):c.96G>A (p.Arg32=)
NM_024537.4(CARS2):c.973T>A (p.Tyr325Asn) rs1464734976
NM_024537.4(CARS2):c.977T>C (p.Ile326Thr)
NM_024537.4(CARS2):c.982A>G (p.Ile328Val) rs1448672862
NM_024537.4(CARS2):c.987+19_987+23del
NM_024537.4(CARS2):c.987+20G>T rs747353959
NM_024537.4(CARS2):c.987+6G>A rs1479157443
NM_024537.4(CARS2):c.988-13C>G rs2062199603
NM_024537.4(CARS2):c.988-17G>C rs1212397461
NM_024537.4(CARS2):c.988-1G>A
NM_024537.4(CARS2):c.988-4C>T
NM_024537.4(CARS2):c.988-5A>T
NM_024537.4(CARS2):c.988-8T>C rs2139700605
NM_024537.4(CARS2):c.98C>G (p.Ala33Gly) rs1566366752
NM_024537.4(CARS2):c.98C>T (p.Ala33Val) rs1566366752
NM_024537.4(CARS2):c.991T>G (p.Phe331Val) rs2139700565
NM_024537.4(CARS2):c.997A>G (p.Lys333Glu) rs2062198993
NM_024678.6(NARS2):c.100C>G (p.Leu34Val)
NM_024678.6(NARS2):c.10del (p.Val4fs) rs1555047651
NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp) rs2135213081
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg) rs763770414
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys) rs2135124873
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly) rs751383065
NM_024678.6(NARS2):c.1352G>A (p.Arg451His)
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) rs1399346230
NM_024678.6(NARS2):c.436A>G (p.Arg146Gly) rs1856737824
NM_024678.6(NARS2):c.545T>A (p.Ile182Lys) rs748779965
NM_024678.6(NARS2):c.594+1G>A rs1035101172
NM_024678.6(NARS2):c.595-1G>A
NM_024678.6(NARS2):c.707T>C (p.Phe236Ser)
NM_024678.6(NARS2):c.707T>G (p.Phe236Cys) rs1565235204
NM_024678.6(NARS2):c.822+6703_959+1726del
NM_024678.6(NARS2):c.822+6704_959+1727del
NM_024678.6(NARS2):c.822G>C (p.Gln274His) rs730882154
NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)
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.*116C>T rs115593809
NM_024996.7(GFM1):c.*245A>C rs886058123
NM_024996.7(GFM1):c.*454_*456del rs367730845
NM_024996.7(GFM1):c.*572A>G rs1726365121
NM_024996.7(GFM1):c.*635A>T rs1398384267
NM_024996.7(GFM1):c.*803T>C rs1726381360
NM_024996.7(GFM1):c.-66C>G rs564879457
NM_024996.7(GFM1):c.-73C>T rs116614958
NM_024996.7(GFM1):c.-85C>T rs893145449
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
NM_024996.7(GFM1):c.1083+3A>G rs187690169
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) rs1576745248
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.1209C>A (p.Ala403=)
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) rs1187874654
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter) rs757691557
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.1384G>T (p.Asp462Tyr) rs200244667
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) rs886058121
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
NM_024996.7(GFM1):c.1404del (p.Gly469fs) rs779877297
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) rs750855220
NM_024996.7(GFM1):c.1424del (p.Arg475fs) rs1723572750
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg) rs119470020
NM_024996.7(GFM1):c.1510del (p.Tyr504fs) rs1560135485
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
NM_024996.7(GFM1):c.1518+1G>A rs1560135491
NM_024996.7(GFM1):c.1519-25A>G rs7628497
NM_024996.7(GFM1):c.152T>G (p.Ile51Ser)
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) rs1576757241
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) rs143031224
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.1765-2_1765-1del rs1245712932
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr) rs1576790457
NM_024996.7(GFM1):c.1799del (p.Ser600fs)
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
NM_024996.7(GFM1):c.1909+2T>A
NM_024996.7(GFM1):c.192A>G (p.Glu64=) rs1576720639
NM_024996.7(GFM1):c.193C>A (p.Arg65=) rs62286651
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter) rs62286651
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.221C>G (p.Ala74Gly) rs778603797
NM_024996.7(GFM1):c.2232del (p.Gly747fs) rs863224034
NM_024996.7(GFM1):c.247_248del (p.Asp83fs) rs1721780124
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522
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.3G>A (p.Met1Ile) rs863224030
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser) rs1721844379
NM_024996.7(GFM1):c.498C>T (p.Asn166=) rs762364300
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter) rs1721865059
NM_024996.7(GFM1):c.539del (p.Gly180fs) rs1362847020
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.573-2A>G
NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) rs1722080493
NM_024996.7(GFM1):c.626del (p.Gly209fs)
NM_024996.7(GFM1):c.636del (p.Gly213fs)
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)
NM_024996.7(GFM1):c.689+2T>C
NM_024996.7(GFM1):c.690_693del rs778902849
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) rs1202361363
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.754G>A (p.Glu252Lys)
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
NM_024996.7(GFM1):c.81+5C>T rs886058119
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
NM_024996.7(GFM1):c.825G>A (p.Ser275=) rs1722357550
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu) rs1722451256
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) rs763423294
NM_024996.7(GFM1):c.909del (p.Asn303fs)
NM_024996.7(GFM1):c.914del (p.Gly305fs)
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.987C>A (p.Leu329=) rs531887279
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.1312C>G (p.Arg438Gly)
NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys)
NM_025150.5(TARS2):c.1534G>A (p.Glu512Lys)
NM_025150.5(TARS2):c.1630C>T (p.Leu544Phe)
NM_025150.5(TARS2):c.1678G>C (p.Asp560His) rs2102510285
NM_025150.5(TARS2):c.1719-17C>A rs201218331
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)
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.470C>T (p.Thr157Ile)
NM_025150.5(TARS2):c.736C>T (p.Arg246Trp) rs763015481
NM_025150.5(TARS2):c.774+5G>T
NM_025150.5(TARS2):c.845C>T (p.Pro282Leu) rs587777593
NM_025150.5(TARS2):c.887A>G (p.Glu296Gly) rs1669673209
NM_025150.5(TARS2):c.980G>A (p.Arg327Gln)
NM_032380.5(GFM2):c.1124T>C (p.Leu375Pro)
NM_032380.5(GFM2):c.1615C>A (p.His539Asn)
NM_032380.5(GFM2):c.1758G>C (p.Arg586Ser)
NM_032380.5(GFM2):c.2029-1G>A rs869320704
NM_032380.5(GFM2):c.206+4A>G rs869320703
NM_032380.5(GFM2):c.2164C>T (p.Gln722Ter)
NM_032380.5(GFM2):c.2206A>G (p.Ile736Val)
NM_032380.5(GFM2):c.240T>G (p.Asp80Glu)
NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser) rs1554042187
NM_032380.5(GFM2):c.304+1G>A
NM_032380.5(GFM2):c.636del (p.Glu213fs) rs746538436
NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His) rs886037735
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs) rs869320746
NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys) rs886037734
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)
NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs) rs886037736
NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu) rs770906277
NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys) rs2074392366
NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val) rs730880255
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.643G>T (p.Glu215Ter) rs1555726849
NM_032620.4(GTPBP3):c.664+23_664+26del rs765975578
NM_032620.4(GTPBP3):c.967del (p.Arg323fs)
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg) rs397514598
NM_033109.5(PNPT1):c.1285-4del rs745754666
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser) rs1696380450
NM_033109.5(PNPT1):c.1400C>A (p.Pro467His)
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) rs767310806
NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg) rs1559094461
NM_033109.5(PNPT1):c.1528G>A (p.Ala510Thr)
NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter) rs2104038061
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
NM_033109.5(PNPT1):c.1906+1G>A rs1695931094
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val) rs144252007
NM_033109.5(PNPT1):c.2014-3C>G rs748445058
NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro) rs1559114055
NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr) rs752550279
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala) rs750110394
NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter) rs780383722
NM_033109.5(PNPT1):c.404-1G>A rs863225449
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033109.5(PNPT1):c.496G>A (p.Asp166Asn) rs2104157202
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr) rs1365308037
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) rs778100619
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs) rs757731660
NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys) rs756596155
NM_138395.4(MARS2):c.928A>G (p.Lys310Glu) rs771207265
NM_139242.4(MTFMT):c.1116del (p.Pro373fs) rs863224897
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) rs769122836
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_139242.4(MTFMT):c.19C>G (p.Arg7Gly) rs759489465
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs) rs777725264
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter) rs771725115
NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys) rs760793624
NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser) rs2086395834
NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter) rs587777419
NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn) rs587777418
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter) rs1555404423
NM_145691.4(ATPAF2):c.*108C>T rs551939105
NM_145691.4(ATPAF2):c.*137C>T rs1346345212
NM_145691.4(ATPAF2):c.*194C>A rs143710995
NM_145691.4(ATPAF2):c.*26G>C rs2044417447
NM_145691.4(ATPAF2):c.*337T>C rs886052664
NM_145691.4(ATPAF2):c.*378A>T rs530700735
NM_145691.4(ATPAF2):c.-107G>T rs371822840
NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg) rs104894554
NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) rs759676953
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) rs1568572298
NM_145691.4(ATPAF2):c.480A>C (p.Pro160=) rs2044519018
NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly) rs141827488
NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys) rs1131691631
NM_145691.4(ATPAF2):c.98del (p.Ile33fs) rs2044747934
NM_152269.4(MTRFR):c.-166T>C rs1314198112
NM_152269.5(MTRFR):c.*139A>C rs886049041
NM_152269.5(MTRFR):c.*14del rs886049040
NM_152269.5(MTRFR):c.*159G>A rs2048192268
NM_152269.5(MTRFR):c.*374A>G rs2048195019
NM_152269.5(MTRFR):c.*468C>T rs886049043
NM_152269.5(MTRFR):c.*647G>C rs565651935
NM_152269.5(MTRFR):c.*696_*699del rs202152701
NM_152269.5(MTRFR):c.*702CAGT[1] rs886049046
NM_152269.5(MTRFR):c.*711_*713del rs148010033
NM_152269.5(MTRFR):c.104_105delinsAT (p.Gly35Asp) rs2138792679
NM_152269.5(MTRFR):c.123C>A (p.Val41=)
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
NM_152269.5(MTRFR):c.136A>G (p.Lys46Glu) rs2138792797
NM_152269.5(MTRFR):c.136AAG[1] (p.Lys47del)
NM_152269.5(MTRFR):c.153A>G (p.Ala51=)
NM_152269.5(MTRFR):c.160T>C (p.Ser54Pro)
NM_152269.5(MTRFR):c.166G>C (p.Asp56His)
NM_152269.5(MTRFR):c.191T>C (p.Phe64Ser)
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
NM_152269.5(MTRFR):c.194T>C (p.Val65Ala) rs2138793021
NM_152269.5(MTRFR):c.204C>T (p.His68=)
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
NM_152269.5(MTRFR):c.229A>G (p.Lys77Glu)
NM_152269.5(MTRFR):c.22C>G (p.His8Asp)
NM_152269.5(MTRFR):c.234C>A (p.Thr78=) rs140942886
NM_152269.5(MTRFR):c.246G>A (p.Val82=) rs1593287730
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_152269.5(MTRFR):c.256C>G (p.His86Asp)
NM_152269.5(MTRFR):c.257A>T (p.His86Leu) rs1565998038
NM_152269.5(MTRFR):c.258C>T (p.His86=)
NM_152269.5(MTRFR):c.267A>G (p.Ser89=)
NM_152269.5(MTRFR):c.269G>A (p.Gly90Asp)
NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)
NM_152269.5(MTRFR):c.274G>A (p.Val92Ile) rs781746861
NM_152269.5(MTRFR):c.282+15G>A
NM_152269.5(MTRFR):c.282+18G>A
NM_152269.5(MTRFR):c.283-10T>C
NM_152269.5(MTRFR):c.283-12_283-10del
NM_152269.5(MTRFR):c.283-13T>C
NM_152269.5(MTRFR):c.283-7_283-6del
NM_152269.5(MTRFR):c.283-8T>G
NM_152269.5(MTRFR):c.292A>C (p.Thr98Pro)
NM_152269.5(MTRFR):c.303T>C (p.Val101=) rs2048186948
NM_152269.5(MTRFR):c.304G>A (p.Asp102Asn) rs1565999184
NM_152269.5(MTRFR):c.307del (p.Gln103fs) rs2048187051
NM_152269.5(MTRFR):c.33dup (p.Pro12fs) rs2048143498
NM_152269.5(MTRFR):c.346G>A (p.Val116Ile)
NM_152269.5(MTRFR):c.347T>G (p.Val116Gly)
NM_152269.5(MTRFR):c.355T>C (p.Phe119Leu)
NM_152269.5(MTRFR):c.357C>T (p.Phe119=)
NM_152269.5(MTRFR):c.361A>G (p.Asn121Asp) rs1473803862
NM_152269.5(MTRFR):c.364G>A (p.Gly122Ser)
NM_152269.5(MTRFR):c.371_373del (p.Asn124del) rs1195098928
NM_152269.5(MTRFR):c.372C>T (p.Asn124=)
NM_152269.5(MTRFR):c.389A>C (p.Glu130Ala)
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter) rs2138800520
NM_152269.5(MTRFR):c.410A>G (p.Lys137Arg)
NM_152269.5(MTRFR):c.419A>G (p.Glu140Gly) rs1255911546
NM_152269.5(MTRFR):c.41C>T (p.Thr14Ile)
NM_152269.5(MTRFR):c.423G>A (p.Arg141=)
NM_152269.5(MTRFR):c.426A>G (p.Lys142=)
NM_152269.5(MTRFR):c.430_432del (p.Arg144del)
NM_152269.5(MTRFR):c.431G>A (p.Arg144Lys)
NM_152269.5(MTRFR):c.450A>G (p.Glu150=)
NM_152269.5(MTRFR):c.455A>G (p.Lys152Arg)
NM_152269.5(MTRFR):c.462A>T (p.Leu154=) rs1465610404
NM_152269.5(MTRFR):c.486T>A (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.53C>T (p.Pro18Leu) rs930288422
NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu) rs144150548
NM_152269.5(MTRFR):c.93G>A (p.Leu31=)
NM_152269.5(MTRFR):c.99C>T (p.Ser33=) rs2138792659
NM_152269.5(MTRFR):c.9C>T (p.Thr3=)
NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)
NM_153689.6(C2orf69):c.280del (p.Glu94fs) rs2106636277
NM_153689.6(C2orf69):c.298del (p.Gln100fs) rs2077262520
NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis) rs2106636278
NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)
NM_153689.6(C2orf69):c.843_847del (p.Lys282fs) rs2106636543
NM_153689.6(C2orf69):c.909_925del (p.Ser304fs) rs2106636544
NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter) rs2106636545
NM_176818.3(GATC):c.128T>C (p.Leu43Pro)
NM_176818.3(GATC):c.233T>G (p.Met78Arg) rs1370579526
NM_205767.3(MICOS13):c.30-1G>A rs1568293849
NM_205767.3(MICOS13):c.44del (p.Gly15fs) rs1568293814
NM_213649.2(SFXN4):c.233del (p.Pro78fs) rs398124642
NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter) rs2133612740
NM_213649.2(SFXN4):c.471+1G>A rs367932369
NM_213649.2(SFXN4):c.739dup (p.Arg247fs) rs1554886159
NM_213649.2(SFXN4):c.930del (p.Ile310fs) rs1589625048
Single allele

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