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
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NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)
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rs397514614
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NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter)
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rs771725115
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NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys)
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rs760793624
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NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser)
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rs2086395834
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NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter)
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rs587777419
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NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn)
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rs587777418
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NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter)
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rs1555404423
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NM_145691.4(ATPAF2):c.*108C>T
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rs551939105
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NM_145691.4(ATPAF2):c.*137C>T
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rs1346345212
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NM_145691.4(ATPAF2):c.*194C>A
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rs143710995
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NM_145691.4(ATPAF2):c.*26G>C
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rs2044417447
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NM_145691.4(ATPAF2):c.*337T>C
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rs886052664
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NM_145691.4(ATPAF2):c.*378A>T
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rs530700735
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NM_145691.4(ATPAF2):c.-107G>T
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rs371822840
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NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg)
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rs104894554
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NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)
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rs759676953
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NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn)
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rs1568572298
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NM_145691.4(ATPAF2):c.480A>C (p.Pro160=)
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rs2044519018
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NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
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NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly)
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rs141827488
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NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys)
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rs1131691631
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NM_145691.4(ATPAF2):c.98del (p.Ile33fs)
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rs2044747934
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NM_152269.4(MTRFR):c.-166T>C
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rs1314198112
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NM_152269.5(MTRFR):c.*139A>C
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rs886049041
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NM_152269.5(MTRFR):c.*14del
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rs886049040
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NM_152269.5(MTRFR):c.*159G>A
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rs2048192268
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NM_152269.5(MTRFR):c.*374A>G
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rs2048195019
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NM_152269.5(MTRFR):c.*468C>T
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rs886049043
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NM_152269.5(MTRFR):c.*647G>C
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rs565651935
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NM_152269.5(MTRFR):c.*696_*699del
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rs202152701
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NM_152269.5(MTRFR):c.*702CAGT[1]
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rs886049046
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NM_152269.5(MTRFR):c.*711_*713del
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rs148010033
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NM_152269.5(MTRFR):c.104_105delinsAT (p.Gly35Asp)
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rs2138792679
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NM_152269.5(MTRFR):c.123C>A (p.Val41=)
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NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
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NM_152269.5(MTRFR):c.136A>G (p.Lys46Glu)
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rs2138792797
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NM_152269.5(MTRFR):c.136AAG[1] (p.Lys47del)
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NM_152269.5(MTRFR):c.153A>G (p.Ala51=)
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NM_152269.5(MTRFR):c.160T>C (p.Ser54Pro)
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NM_152269.5(MTRFR):c.166G>C (p.Asp56His)
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NM_152269.5(MTRFR):c.191T>C (p.Phe64Ser)
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NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
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NM_152269.5(MTRFR):c.194T>C (p.Val65Ala)
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rs2138793021
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NM_152269.5(MTRFR):c.204C>T (p.His68=)
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NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
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NM_152269.5(MTRFR):c.229A>G (p.Lys77Glu)
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NM_152269.5(MTRFR):c.22C>G (p.His8Asp)
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NM_152269.5(MTRFR):c.234C>A (p.Thr78=)
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rs140942886
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NM_152269.5(MTRFR):c.246G>A (p.Val82=)
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rs1593287730
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NM_152269.5(MTRFR):c.248del (p.Val83fs)
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rs587776508
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NM_152269.5(MTRFR):c.256C>G (p.His86Asp)
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NM_152269.5(MTRFR):c.257A>T (p.His86Leu)
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rs1565998038
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NM_152269.5(MTRFR):c.258C>T (p.His86=)
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NM_152269.5(MTRFR):c.267A>G (p.Ser89=)
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NM_152269.5(MTRFR):c.269G>A (p.Gly90Asp)
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NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)
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NM_152269.5(MTRFR):c.274G>A (p.Val92Ile)
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rs781746861
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NM_152269.5(MTRFR):c.282+15G>A
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NM_152269.5(MTRFR):c.282+18G>A
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NM_152269.5(MTRFR):c.283-10T>C
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NM_152269.5(MTRFR):c.283-12_283-10del
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NM_152269.5(MTRFR):c.283-13T>C
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NM_152269.5(MTRFR):c.283-7_283-6del
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NM_152269.5(MTRFR):c.283-8T>G
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NM_152269.5(MTRFR):c.292A>C (p.Thr98Pro)
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NM_152269.5(MTRFR):c.303T>C (p.Val101=)
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rs2048186948
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NM_152269.5(MTRFR):c.304G>A (p.Asp102Asn)
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rs1565999184
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NM_152269.5(MTRFR):c.307del (p.Gln103fs)
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rs2048187051
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NM_152269.5(MTRFR):c.33dup (p.Pro12fs)
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rs2048143498
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NM_152269.5(MTRFR):c.346G>A (p.Val116Ile)
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NM_152269.5(MTRFR):c.347T>G (p.Val116Gly)
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NM_152269.5(MTRFR):c.355T>C (p.Phe119Leu)
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NM_152269.5(MTRFR):c.357C>T (p.Phe119=)
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NM_152269.5(MTRFR):c.361A>G (p.Asn121Asp)
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rs1473803862
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NM_152269.5(MTRFR):c.364G>A (p.Gly122Ser)
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NM_152269.5(MTRFR):c.371_373del (p.Asn124del)
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rs1195098928
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NM_152269.5(MTRFR):c.372C>T (p.Asn124=)
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NM_152269.5(MTRFR):c.389A>C (p.Glu130Ala)
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NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter)
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rs2138800520
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NM_152269.5(MTRFR):c.410A>G (p.Lys137Arg)
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NM_152269.5(MTRFR):c.419A>G (p.Glu140Gly)
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rs1255911546
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NM_152269.5(MTRFR):c.41C>T (p.Thr14Ile)
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NM_152269.5(MTRFR):c.423G>A (p.Arg141=)
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NM_152269.5(MTRFR):c.426A>G (p.Lys142=)
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NM_152269.5(MTRFR):c.430_432del (p.Arg144del)
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NM_152269.5(MTRFR):c.431G>A (p.Arg144Lys)
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NM_152269.5(MTRFR):c.450A>G (p.Glu150=)
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NM_152269.5(MTRFR):c.455A>G (p.Lys152Arg)
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NM_152269.5(MTRFR):c.462A>T (p.Leu154=)
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rs1465610404
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NM_152269.5(MTRFR):c.486T>A (p.Ser162Arg)
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rs371852394
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NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg)
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rs371852394
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NM_152269.5(MTRFR):c.53C>T (p.Pro18Leu)
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rs930288422
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NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu)
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rs144150548
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NM_152269.5(MTRFR):c.93G>A (p.Leu31=)
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NM_152269.5(MTRFR):c.99C>T (p.Ser33=)
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rs2138792659
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NM_152269.5(MTRFR):c.9C>T (p.Thr3=)
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NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)
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NM_153689.6(C2orf69):c.280del (p.Glu94fs)
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rs2106636277
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NM_153689.6(C2orf69):c.298del (p.Gln100fs)
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rs2077262520
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NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis)
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rs2106636278
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NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)
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NM_153689.6(C2orf69):c.843_847del (p.Lys282fs)
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rs2106636543
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NM_153689.6(C2orf69):c.909_925del (p.Ser304fs)
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rs2106636544
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NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter)
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rs2106636545
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NM_176818.3(GATC):c.128T>C (p.Leu43Pro)
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NM_176818.3(GATC):c.233T>G (p.Met78Arg)
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rs1370579526
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NM_205767.3(MICOS13):c.30-1G>A
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rs1568293849
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NM_205767.3(MICOS13):c.44del (p.Gly15fs)
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rs1568293814
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NM_213649.2(SFXN4):c.233del (p.Pro78fs)
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rs398124642
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NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter)
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rs2133612740
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NM_213649.2(SFXN4):c.471+1G>A
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rs367932369
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NM_213649.2(SFXN4):c.739dup (p.Arg247fs)
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rs1554886159
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NM_213649.2(SFXN4):c.930del (p.Ile310fs)
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rs1589625048
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Single allele
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