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_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
NM_003321.4(TUFM):c.-132G>A
|
rs112029765
|
0.02019
|
NM_024996.7(GFM1):c.*483_*484insTA
|
rs10662631
|
0.01750
|
NM_024996.7(GFM1):c.-11C>T
|
rs112860155
|
0.01649
|
NM_022915.5(MRPL44):c.827+18C>T
|
rs58911111
|
0.01453
|
NM_001083614.2(EARS2):c.*1327A>G
|
rs72776116
|
0.01372
|
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)
|
rs115815965
|
0.01205
|
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)
|
rs34530313
|
0.01004
|
NM_001136193.2(FASTKD2):c.-51A>G
|
rs116297724
|
0.00938
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
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_020191.4(MRPS22):c.201A>G (p.Lys67=)
|
rs11556243
|
0.00739
|
NM_024996.7(GFM1):c.2071-17A>G
|
rs76679758
|
0.00671
|
NM_020745.4(AARS2):c.1752G>A (p.Glu584=)
|
rs78525157
|
0.00653
|
NM_012473.4(TXN2):c.294G>A (p.Pro98=)
|
rs150502647
|
0.00588
|
NM_024996.7(GFM1):c.*539C>T
|
rs75254073
|
0.00563
|
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_012123.4(MTO1):c.1894C>T (p.Leu632=)
|
rs117757245
|
0.00506
|
NM_005035.4(POLRMT):c.3165C>T (p.Thr1055=)
|
rs149476145
|
0.00500
|
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)
|
rs61730896
|
0.00489
|
NM_001083614.2(EARS2):c.*555G>A
|
rs190982783
|
0.00465
|
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)
|
rs116567033
|
0.00455
|
NM_003321.5(TUFM):c.684+6C>T
|
rs188421321
|
0.00419
|
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)
|
rs114754676
|
0.00399
|
NM_005035.4(POLRMT):c.178G>A (p.Val60Met)
|
rs139758373
|
0.00386
|
NM_001083614.2(EARS2):c.*458C>T
|
rs145856944
|
0.00379
|
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.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
NM_005726.6(TSFM):c.232-19T>G
|
rs112348190
|
0.00291
|
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_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_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_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00196
|
NM_024996.7(GFM1):c.960A>C (p.Pro320=)
|
rs145970222
|
0.00196
|
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_001083614.2(EARS2):c.1317G>A (p.Ser439=)
|
rs74014932
|
0.00173
|
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_003321.5(TUFM):c.520-13C>G
|
rs115691896
|
0.00158
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
NM_001136193.2(FASTKD2):c.777+18T>C
|
rs200187845
|
0.00155
|
NM_012123.4(MTO1):c.1549G>A (p.Val517Met)
|
rs139608228
|
0.00155
|
NM_001083614.2(EARS2):c.*91C>T
|
rs141499212
|
0.00148
|
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)
|
rs146356199
|
0.00141
|
NM_006567.5(FARS2):c.606G>A (p.Lys202=)
|
rs17851782
|
0.00128
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
NM_003321.5(TUFM):c.520-8A>T
|
rs145900455
|
0.00116
|
NM_017909.4(RMND1):c.1209T>C (p.Asn403=)
|
rs75177593
|
0.00108
|
NM_024996.7(GFM1):c.2070+11T>G
|
rs150000838
|
0.00100
|
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)
|
rs112070421
|
0.00094
|
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)
|
rs141129877
|
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_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_017909.4(RMND1):c.1167G>A (p.Thr389=)
|
rs116201484
|
0.00071
|
NM_005932.4(MIPEP):c.1728+7A>G
|
rs186873433
|
0.00064
|
NM_024537.4(CARS2):c.465+14C>T
|
rs41315944
|
0.00061
|
NM_019116.1(UBFD1):c.307G>C (p.Ala103Pro)
|
rs371224231
|
0.00058
|
NM_006567.5(FARS2):c.1128C>T (p.Tyr376=)
|
rs139204875
|
0.00057
|
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_024537.4(CARS2):c.1287C>T (p.His429=)
|
rs143945861
|
0.00041
|
NM_006567.5(FARS2):c.267C>G (p.Ile89Met)
|
rs143959504
|
0.00038
|
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_018127.7(ELAC2):c.2376G>A (p.Ala792=)
|
rs180717697
|
0.00034
|
NM_024537.4(CARS2):c.1318-18C>T
|
rs185912329
|
0.00034
|
NM_024537.4(CARS2):c.571+11T>C
|
rs373960867
|
0.00031
|
NM_152269.5(MTRFR):c.54G>A (p.Pro18=)
|
rs188310109
|
0.00031
|
NM_001136193.2(FASTKD2):c.192T>C (p.Phe64=)
|
rs150457139
|
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_145691.4(ATPAF2):c.-107G>A
|
rs371822840
|
0.00029
|
NM_018127.7(ELAC2):c.1575C>T (p.Cys525=)
|
rs140487151
|
0.00028
|
NM_018127.7(ELAC2):c.1740C>T (p.Ala580=)
|
rs148050183
|
0.00027
|
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_018127.7(ELAC2):c.367+7A>G
|
rs113628680
|
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_006567.5(FARS2):c.509C>G (p.Ala170Gly)
|
rs141568455
|
0.00023
|
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=)
|
rs201700166
|
0.00022
|
NM_001136193.2(FASTKD2):c.1693C>T (p.Leu565=)
|
rs148971447
|
0.00021
|
NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln)
|
rs200491395
|
0.00021
|
NM_152269.5(MTRFR):c.283-19_283-16dup
|
rs758700066
|
0.00021
|
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=)
|
rs150821143
|
0.00020
|
NM_001083614.2(EARS2):c.280A>G (p.Met94Val)
|
rs200139797
|
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_018127.7(ELAC2):c.195G>A (p.Ala65=)
|
rs377291764
|
0.00019
|
NM_018127.7(ELAC2):c.739-18A>G
|
rs376224310
|
0.00019
|
NM_006567.5(FARS2):c.324G>A (p.Pro108=)
|
rs139618748
|
0.00017
|
NM_012123.4(MTO1):c.1137T>C (p.Gly379=)
|
rs141477592
|
0.00016
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00016
|
NM_024537.4(CARS2):c.741A>T (p.Gly247=)
|
rs998783511
|
0.00016
|
NM_006567.5(FARS2):c.1273C>T (p.Leu425=)
|
rs143662929
|
0.00015
|
NM_018127.7(ELAC2):c.1304+13T>C
|
rs777881145
|
0.00015
|
NM_001136193.2(FASTKD2):c.1255-7T>C
|
rs757255885
|
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.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_024537.4(CARS2):c.1566G>A (p.Leu522=)
|
rs377120724
|
0.00014
|
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_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.780C>T (p.Ile260=)
|
rs145315422
|
0.00013
|
NM_006567.5(FARS2):c.1014C>T (p.Arg338=)
|
rs41302855
|
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_001136193.2(FASTKD2):c.1080T>C (p.Leu360=)
|
rs376045225
|
0.00011
|
NM_012123.4(MTO1):c.1667T>C (p.Val556Ala)
|
rs185347132
|
0.00011
|
NM_012123.4(MTO1):c.939-13T>C
|
rs371809371
|
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_024996.7(GFM1):c.622G>A (p.Glu208Lys)
|
rs191462023
|
0.00011
|
NM_152269.5(MTRFR):c.120G>A (p.Pro40=)
|
rs377142152
|
0.00011
|
NM_001136193.2(FASTKD2):c.2014-18T>C
|
rs749657627
|
0.00010
|
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr)
|
rs772308346
|
0.00010
|
NM_006567.5(FARS2):c.781A>G (p.Ile261Val)
|
rs201927340
|
0.00010
|
NM_018127.7(ELAC2):c.1423+13C>T
|
rs552514338
|
0.00010
|
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_017909.4(RMND1):c.614-18G>A
|
rs764159292
|
0.00009
|
NM_018127.7(ELAC2):c.156C>T (p.Ser52=)
|
rs375941310
|
0.00009
|
NM_024537.4(CARS2):c.1194-17C>G
|
rs377292484
|
0.00009
|
NM_024996.7(GFM1):c.1368G>A (p.Lys456=)
|
rs774280744
|
0.00009
|
NM_012123.4(MTO1):c.961A>G (p.Lys321Glu)
|
rs148667065
|
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_001083614.2(EARS2):c.246C>T (p.Arg82=)
|
rs531061994
|
0.00007
|
NM_001136193.2(FASTKD2):c.2124C>T (p.Ser708=)
|
rs200616436
|
0.00007
|
NM_006567.5(FARS2):c.1209A>G (p.Val403=)
|
rs147628137
|
0.00007
|
NM_012123.4(MTO1):c.418-6T>C
|
rs752852300
|
0.00007
|
NM_018127.7(ELAC2):c.666A>G (p.Pro222=)
|
rs772199691
|
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.753G>A (p.Pro251=)
|
rs149601283
|
0.00007
|
NM_001136193.2(FASTKD2):c.1115-10A>G
|
rs747618392
|
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_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.429G>A (p.Leu143=)
|
rs763318672
|
0.00006
|
NM_018127.7(ELAC2):c.1350G>A (p.Ala450=)
|
rs375565327
|
0.00006
|
NM_018127.7(ELAC2):c.1880C>T (p.Ser627Leu)
|
rs78105154
|
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_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.136A>G (p.Thr46Ala)
|
rs771202761
|
0.00006
|
NM_024537.4(CARS2):c.1524G>A (p.Thr508=)
|
rs372410471
|
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_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.954G>A (p.Arg318=)
|
rs764877564
|
0.00005
|
NM_006567.5(FARS2):c.984T>C (p.Asp328=)
|
rs201390927
|
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.715C>T (p.Leu239=)
|
rs377338076
|
0.00005
|
NM_018127.7(ELAC2):c.738+17G>A
|
rs761089421
|
0.00005
|
NM_018127.7(ELAC2):c.983+9G>A
|
rs760385942
|
0.00005
|
NM_024537.4(CARS2):c.1266C>T (p.Ala422=)
|
rs773655449
|
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.465+16G>A
|
rs371021982
|
0.00005
|
NM_024537.4(CARS2):c.657G>A (p.Ala219=)
|
rs375938059
|
0.00005
|
NM_005726.6(TSFM):c.885C>T (p.Thr295=)
|
rs750718644
|
0.00004
|
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)
|
rs538791135
|
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_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.552A>G (p.Val184=)
|
rs746213747
|
0.00004
|
NM_017909.4(RMND1):c.1077A>G (p.Leu359=)
|
rs766598526
|
0.00004
|
NM_018127.7(ELAC2):c.1424-17C>T
|
rs755064409
|
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.2109-9C>T
|
rs770917844
|
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.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_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.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.1647G>A (p.Thr549=)
|
rs201728933
|
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_005726.6(TSFM):c.10C>T (p.Leu4=)
|
rs765871977
|
0.00003
|
NM_005726.6(TSFM):c.816C>T (p.Asp272=)
|
rs183575246
|
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.444G>T (p.Arg148=)
|
rs548957605
|
0.00003
|
NM_012123.4(MTO1):c.1902T>C (p.Phe634=)
|
rs567020916
|
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.693G>T (p.Val231=)
|
rs558715877
|
0.00003
|
NM_018127.7(ELAC2):c.1079+13G>C
|
rs200797227
|
0.00003
|
NM_018127.7(ELAC2):c.1423+8G>A
|
rs763673924
|
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.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.559+17G>C
|
rs765765916
|
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_024537.4(CARS2):c.1055-7T>C
|
rs775563211
|
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.1530C>T (p.Asp510=)
|
rs539168705
|
0.00003
|
NM_024537.4(CARS2):c.33C>A (p.Gly11=)
|
rs907423199
|
0.00003
|
NM_024537.4(CARS2):c.528T>C (p.Ile176=)
|
rs759194567
|
0.00003
|
NM_024537.4(CARS2):c.988-10G>A
|
rs568891064
|
0.00003
|
NM_001136193.2(FASTKD2):c.1698G>A (p.Pro566=)
|
rs151258385
|
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.213C>T (p.Leu71=)
|
rs748813583
|
0.00002
|
NM_006567.5(FARS2):c.21G>T (p.Arg7Ser)
|
rs764390927
|
0.00002
|
NM_006567.5(FARS2):c.408C>T (p.Pro136=)
|
rs917396515
|
0.00002
|
NM_006567.5(FARS2):c.495C>T (p.His165=)
|
rs761573935
|
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.612+12G>A
|
rs186634574
|
0.00002
|
NM_006567.5(FARS2):c.924C>T (p.Ile308=)
|
rs775382064
|
0.00002
|
NM_012123.4(MTO1):c.1026C>T (p.Asp342=)
|
rs780123184
|
0.00002
|
NM_012123.4(MTO1):c.1129+13A>G
|
rs199879600
|
0.00002
|
NM_012123.4(MTO1):c.1260+17T>G
|
rs780859448
|
0.00002
|
NM_012123.4(MTO1):c.1335T>C (p.Gly445=)
|
rs539098813
|
0.00002
|
NM_012123.4(MTO1):c.1650T>C (p.Val550=)
|
rs755205490
|
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.339A>G (p.Val113=)
|
rs776394925
|
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_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.144G>A (p.Pro48=)
|
rs1231034298
|
0.00002
|
NM_018127.7(ELAC2):c.1617G>C (p.Leu539=)
|
rs539598982
|
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.2109-17C>G
|
rs1053943347
|
0.00002
|
NM_018127.7(ELAC2):c.2226A>G (p.Lys742=)
|
rs773995732
|
0.00002
|
NM_018127.7(ELAC2):c.2418G>C (p.Gly806=)
|
rs144228112
|
0.00002
|
NM_018127.7(ELAC2):c.245+19C>A
|
rs1037457378
|
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.797+9G>T
|
rs762820869
|
0.00002
|
NM_018127.7(ELAC2):c.798-13C>G
|
rs371733501
|
0.00002
|
NM_018127.7(ELAC2):c.983+14T>A
|
rs758970515
|
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.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.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.537C>T (p.Ile179=)
|
rs142925085
|
0.00002
|
NM_024537.4(CARS2):c.656-16C>T
|
rs755708345
|
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_152269.5(MTRFR):c.282+17C>T
|
rs1197939863
|
0.00002
|
NM_152269.5(MTRFR):c.405G>A (p.Ala135=)
|
rs941522491
|
0.00002
|
NM_001083614.2(EARS2):c.*2105C>G
|
rs550393372
|
0.00001
|
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly)
|
rs542571914
|
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.1066-12_1066-11del
|
rs1424235482
|
0.00001
|
NM_006567.5(FARS2):c.1083G>A (p.Pro361=)
|
rs762103254
|
0.00001
|
NM_006567.5(FARS2):c.120G>A (p.Glu40=)
|
rs761074033
|
0.00001
|
NM_006567.5(FARS2):c.1251G>A (p.Thr417=)
|
rs189168256
|
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.160C>T (p.Leu54=)
|
rs1380230371
|
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.372G>A (p.Gln124=)
|
rs566589950
|
0.00001
|
NM_006567.5(FARS2):c.375C>T (p.Asn125=)
|
rs1173641601
|
0.00001
|
NM_006567.5(FARS2):c.549C>T (p.Ile183=)
|
rs776506015
|
0.00001
|
NM_006567.5(FARS2):c.6G>A (p.Val2=)
|
rs772379847
|
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.774G>A (p.Glu258=)
|
rs1274777348
|
0.00001
|
NM_006567.5(FARS2):c.786A>G (p.Arg262=)
|
rs1763132563
|
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.957A>G (p.Leu319=)
|
rs1015994762
|
0.00001
|
NM_006567.5(FARS2):c.972C>T (p.Tyr324=)
|
rs150789146
|
0.00001
|
NM_006567.5(FARS2):c.993C>G (p.Leu331=)
|
rs370814907
|
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.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.1261-9C>T
|
rs1771508479
|
0.00001
|
NM_012123.4(MTO1):c.1272C>T (p.Ala424=)
|
rs184320231
|
0.00001
|
NM_012123.4(MTO1):c.1284C>T (p.Ala428=)
|
rs1771510990
|
0.00001
|
NM_012123.4(MTO1):c.1389C>T (p.Tyr463=)
|
rs747803452
|
0.00001
|
NM_012123.4(MTO1):c.1401C>T (p.Thr467=)
|
rs761354670
|
0.00001
|
NM_012123.4(MTO1):c.1466-11C>T
|
rs1177539865
|
0.00001
|
NM_012123.4(MTO1):c.1515T>C (p.Cys505=)
|
rs986939142
|
0.00001
|
NM_012123.4(MTO1):c.1599A>G (p.Pro533=)
|
rs1167772743
|
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.187C>G (p.Leu63Val)
|
rs371275324
|
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.2004G>A (p.Gln668=)
|
rs1274349883
|
0.00001
|
NM_012123.4(MTO1):c.2007G>A (p.Ser669=)
|
rs760282169
|
0.00001
|
NM_012123.4(MTO1):c.2064A>G (p.Gln688=)
|
rs372208655
|
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.405A>G (p.Lys135=)
|
rs1170291540
|
0.00001
|
NM_012123.4(MTO1):c.621G>A (p.Thr207=)
|
rs763650850
|
0.00001
|
NM_012123.4(MTO1):c.768T>C (p.His256=)
|
rs781712108
|
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.939-7A>T
|
rs769685212
|
0.00001
|
NM_012123.4(MTO1):c.96C>T (p.Pro32=)
|
rs938648582
|
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_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.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.127C>A (p.Arg43=)
|
rs1598280966
|
0.00001
|
NM_018127.7(ELAC2):c.1305-10C>T
|
rs771858858
|
0.00001
|
NM_018127.7(ELAC2):c.132G>A (p.Glu44=)
|
rs933215096
|
0.00001
|
NM_018127.7(ELAC2):c.1476C>T (p.Ile492=)
|
rs766476173
|
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.1608G>A (p.Leu536=)
|
rs773774169
|
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.178C>T (p.Leu60=)
|
rs1266677255
|
0.00001
|
NM_018127.7(ELAC2):c.1808+15C>T
|
rs930358086
|
0.00001
|
NM_018127.7(ELAC2):c.2007C>G (p.Pro669=)
|
rs780790017
|
0.00001
|
NM_018127.7(ELAC2):c.2017C>T (p.Leu673=)
|
rs200759780
|
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.2112A>G (p.Thr704=)
|
rs998359804
|
0.00001
|
NM_018127.7(ELAC2):c.2118C>G (p.Ser706=)
|
rs752923351
|
0.00001
|
NM_018127.7(ELAC2):c.2148C>T (p.Asn716=)
|
rs759078534
|
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.2295C>G (p.Pro765=)
|
rs371543722
|
0.00001
|
NM_018127.7(ELAC2):c.22C>T (p.Leu8=)
|
rs754652199
|
0.00001
|
NM_018127.7(ELAC2):c.2370G>A (p.Val790=)
|
rs143840985
|
0.00001
|
NM_018127.7(ELAC2):c.245+17C>A
|
rs754772263
|
0.00001
|
NM_018127.7(ELAC2):c.24G>A (p.Leu8=)
|
rs1598281471
|
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.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.432+15A>C
|
rs754403836
|
0.00001
|
NM_018127.7(ELAC2):c.432+18C>T
|
rs779908196
|
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.537A>C (p.Thr179=)
|
rs755930395
|
0.00001
|
NM_018127.7(ELAC2):c.559+16A>G
|
rs1449825249
|
0.00001
|
NM_018127.7(ELAC2):c.582C>T (p.His194=)
|
rs764486912
|
0.00001
|
NM_018127.7(ELAC2):c.651G>A (p.Ser217=)
|
rs201530031
|
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.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.984-18C>A
|
rs1382193290
|
0.00001
|
NM_024537.4(CARS2):c.1008C>T (p.Ser336=)
|
rs1313306865
|
0.00001
|
NM_024537.4(CARS2):c.1054+7C>T
|
rs369116566
|
0.00001
|
NM_024537.4(CARS2):c.1065C>T (p.Tyr355=)
|
rs568277703
|
0.00001
|
NM_024537.4(CARS2):c.1101C>T (p.Leu367=)
|
rs527311442
|
0.00001
|
NM_024537.4(CARS2):c.1161C>T (p.Cys387=)
|
rs772515282
|
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.1206C>T (p.Thr402=)
|
rs556643017
|
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.1257G>A (p.Val419=)
|
rs774758878
|
0.00001
|
NM_024537.4(CARS2):c.1278T>G (p.Leu426=)
|
rs1213717785
|
0.00001
|
NM_024537.4(CARS2):c.1318-17G>A
|
rs182585150
|
0.00001
|
NM_024537.4(CARS2):c.1332G>A (p.Pro444=)
|
rs745916376
|
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.1452T>C (p.His484=)
|
rs750129111
|
0.00001
|
NM_024537.4(CARS2):c.1473G>A (p.Val491=)
|
rs774705663
|
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.1581C>T (p.Asp527=)
|
rs201472735
|
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+9C>T
|
rs1302154832
|
0.00001
|
NM_024537.4(CARS2):c.1659G>A (p.Leu553=)
|
rs1474595916
|
0.00001
|
NM_024537.4(CARS2):c.174C>T (p.Leu58=)
|
rs751387497
|
0.00001
|
NM_024537.4(CARS2):c.225-19A>C
|
rs45518835
|
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.408C>T (p.Pro136=)
|
rs755243580
|
0.00001
|
NM_024537.4(CARS2):c.42G>T (p.Leu14=)
|
rs1010589821
|
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.498C>G (p.Thr166=)
|
rs757335344
|
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.573C>T (p.Gly191=)
|
rs1223141816
|
0.00001
|
NM_024537.4(CARS2):c.624C>T (p.Val208=)
|
rs768173954
|
0.00001
|
NM_024537.4(CARS2):c.633C>T (p.Val211=)
|
rs769981233
|
0.00001
|
NM_024537.4(CARS2):c.645C>T (p.Val215=)
|
rs776642452
|
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.684C>T (p.Asp228=)
|
rs537075451
|
0.00001
|
NM_024537.4(CARS2):c.687C>T (p.Phe229=)
|
rs775389111
|
0.00001
|
NM_024537.4(CARS2):c.702G>A (p.Ala234=)
|
rs143818816
|
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.867G>A (p.Gln289=)
|
rs1446340847
|
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.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_024996.7(GFM1):c.1830C>T (p.Val610=)
|
rs139680551
|
0.00001
|
NM_024996.7(GFM1):c.2016T>C (p.His672=)
|
rs755853174
|
0.00001
|
NM_152269.5(MTRFR):c.276T>C (p.Val92=)
|
rs907535491
|
0.00001
|
NM_152269.5(MTRFR):c.333C>A (p.Ile111=)
|
rs769551356
|
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_001083614.2(EARS2):c.*15G>C
|
rs200936622
|
|
NM_001083614.2(EARS2):c.*383GA[1]
|
rs200036419
|
|
NM_001136193.2(FASTKD2):c.1427+20dup
|
rs371981683
|
|
NM_001136193.2(FASTKD2):c.2014-12_2014-11del
|
rs770341016
|
|
NM_004208.4(AIFM1):c.597A>G (p.Lys199=)
|
rs143670174
|
|
NM_005726.6(TSFM):c.408G>A (p.Leu136=)
|
rs144109380
|
|
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.1057A>C (p.Lys353Gln)
|
rs762302341
|
|
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.108T>C (p.Pro36=)
|
|
|
NM_006567.5(FARS2):c.1092C>T (p.Ile364=)
|
|
|
NM_006567.5(FARS2):c.1116C>T (p.Pro372=)
|
rs2150673615
|
|
NM_006567.5(FARS2):c.1200C>T (p.Asp400=)
|
rs2150673934
|
|
NM_006567.5(FARS2):c.1218-5T>C
|
rs1014916887
|
|
NM_006567.5(FARS2):c.1218-7T>C
|
rs2150990567
|
|
NM_006567.5(FARS2):c.1267C>A (p.Arg423=)
|
|
|
NM_006567.5(FARS2):c.1269G>T (p.Arg423=)
|
rs758019336
|
|
NM_006567.5(FARS2):c.126C>T (p.Ala42=)
|
|
|
NM_006567.5(FARS2):c.1293G>A (p.Arg431=)
|
rs749743875
|
|
NM_006567.5(FARS2):c.1344G>A (p.Glu448=)
|
rs945267016
|
|
NM_006567.5(FARS2):c.138T>C (p.Ala46=)
|
rs2127643010
|
|
NM_006567.5(FARS2):c.141A>G (p.Pro47=)
|
|
|
NM_006567.5(FARS2):c.150G>A (p.Val50=)
|
rs1448847094
|
|
NM_006567.5(FARS2):c.201C>G (p.Thr67=)
|
rs1357700939
|
|
NM_006567.5(FARS2):c.204G>C (p.Arg68=)
|
|
|
NM_006567.5(FARS2):c.207G>A (p.Lys69=)
|
|
|
NM_006567.5(FARS2):c.231C>T (p.Asn77=)
|
rs777130213
|
|
NM_006567.5(FARS2):c.234G>T (p.Leu78=)
|
|
|
NM_006567.5(FARS2):c.262C>T (p.Leu88=)
|
|
|
NM_006567.5(FARS2):c.294C>T (p.Tyr98=)
|
|
|
NM_006567.5(FARS2):c.300G>A (p.Gln100=)
|
|
|
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.378T>C (p.Phe126=)
|
rs2127643700
|
|
NM_006567.5(FARS2):c.390C>A (p.Leu130=)
|
rs767424737
|
|
NM_006567.5(FARS2):c.450C>T (p.His150=)
|
rs2127643912
|
|
NM_006567.5(FARS2):c.474A>T (p.Ala158=)
|
|
|
NM_006567.5(FARS2):c.486C>T (p.Asp162=)
|
|
|
NM_006567.5(FARS2):c.492G>A (p.Leu164=)
|
rs374120685
|
|
NM_006567.5(FARS2):c.498G>A (p.Ala166=)
|
|
|
NM_006567.5(FARS2):c.513C>T (p.Phe171=)
|
|
|
NM_006567.5(FARS2):c.528T>C (p.Asp176=)
|
|
|
NM_006567.5(FARS2):c.546G>A (p.Gln182=)
|
rs1581905336
|
|
NM_006567.5(FARS2):c.555C>T (p.Ser185=)
|
|
|
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.613-4A>G
|
rs1554181180
|
|
NM_006567.5(FARS2):c.613-9G>C
|
|
|
NM_006567.5(FARS2):c.651C>G (p.Leu217=)
|
|
|
NM_006567.5(FARS2):c.726T>C (p.Asp242=)
|
|
|
NM_006567.5(FARS2):c.738G>A (p.Thr246=)
|
|
|
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+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.804C>T (p.Phe268=)
|
|
|
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>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.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+9G>T
|
rs201412926
|
|
NM_006567.5(FARS2):c.905-20A>C
|
|
|
NM_006567.5(FARS2):c.906T>G (p.Ala302=)
|
rs1770885830
|
|
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.955C>T (p.Leu319=)
|
rs772822506
|
|
NM_012123.4(MTO1):c.1002G>A (p.Leu334=)
|
rs2150035828
|
|
NM_012123.4(MTO1):c.1044G>A (p.Gly348=)
|
|
|
NM_012123.4(MTO1):c.1047A>G (p.Leu349=)
|
|
|
NM_012123.4(MTO1):c.105G>A (p.Pro35=)
|
|
|
NM_012123.4(MTO1):c.1062A>C (p.Pro354=)
|
rs1060504378
|
|
NM_012123.4(MTO1):c.1089A>C (p.Thr363=)
|
|
|
NM_012123.4(MTO1):c.1104G>A (p.Leu368=)
|
|
|
NM_012123.4(MTO1):c.1107G>A (p.Glu369=)
|
|
|
NM_012123.4(MTO1):c.111C>T (p.Phe37=)
|
|
|
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+8_1129+10del
|
rs758510777
|
|
NM_012123.4(MTO1):c.1130-20T>C
|
|
|
NM_012123.4(MTO1):c.114C>T (p.Asp38=)
|
|
|
NM_012123.4(MTO1):c.1170C>T (p.Ile390=)
|
|
|
NM_012123.4(MTO1):c.123C>G (p.Val41=)
|
|
|
NM_012123.4(MTO1):c.1257T>C (p.Ala419=)
|
|
|
NM_012123.4(MTO1):c.1260+9_1260+13del
|
rs935181583
|
|
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.1287T>C (p.Ser429=)
|
|
|
NM_012123.4(MTO1):c.1290T>C (p.Leu430=)
|
rs148227552
|
|
NM_012123.4(MTO1):c.1293G>A (p.Arg431=)
|
|
|
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.1347C>G (p.Val449=)
|
|
|
NM_012123.4(MTO1):c.1353T>C (p.Ile451=)
|
rs557440944
|
|
NM_012123.4(MTO1):c.135A>G (p.Gly45=)
|
|
|
NM_012123.4(MTO1):c.1362C>T (p.Leu454=)
|
|
|
NM_012123.4(MTO1):c.1431C>T (p.Arg477=)
|
|
|
NM_012123.4(MTO1):c.1434T>C (p.Pro478=)
|
|
|
NM_012123.4(MTO1):c.1440T>C (p.Asn480=)
|
|
|
NM_012123.4(MTO1):c.1443T>C (p.Ala481=)
|
rs2150037243
|
|
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.147T>C (p.Thr49=)
|
|
|
NM_012123.4(MTO1):c.1485T>C (p.Cys495=)
|
|
|
NM_012123.4(MTO1):c.1491C>T (p.Ser497=)
|
|
|
NM_012123.4(MTO1):c.1497A>G (p.Gln499=)
|
|
|
NM_012123.4(MTO1):c.1503T>C (p.Tyr501=)
|
|
|
NM_012123.4(MTO1):c.1512T>A (p.Ala504=)
|
|
|
NM_012123.4(MTO1):c.1548T>C (p.Ser516=)
|
|
|
NM_012123.4(MTO1):c.1566G>A (p.Glu522=)
|
|
|
NM_012123.4(MTO1):c.1570T>C (p.Leu524=)
|
|
|
NM_012123.4(MTO1):c.159C>G (p.Thr53=)
|
rs761813265
|
|
NM_012123.4(MTO1):c.159C>T (p.Thr53=)
|
|
|
NM_012123.4(MTO1):c.1629G>T (p.Leu543=)
|
|
|
NM_012123.4(MTO1):c.1637+14A>G
|
|
|
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.1644C>G (p.Leu548=)
|
|
|
NM_012123.4(MTO1):c.1644C>T (p.Leu548=)
|
|
|
NM_012123.4(MTO1):c.165C>G (p.Ala55=)
|
|
|
NM_012123.4(MTO1):c.1680A>C (p.Ser560=)
|
rs1215865193
|
|
NM_012123.4(MTO1):c.1680A>G (p.Ser560=)
|
|
|
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.1757-11T>C
|
|
|
NM_012123.4(MTO1):c.1757-14A>T
|
|
|
NM_012123.4(MTO1):c.1757-20A>T
|
|
|
NM_012123.4(MTO1):c.1815T>C (p.Asp605=)
|
|
|
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>T (p.Leu614=)
|
rs2150044988
|
|
NM_012123.4(MTO1):c.1860G>A (p.Arg620=)
|
|
|
NM_012123.4(MTO1):c.1866G>C (p.Val622=)
|
|
|
NM_012123.4(MTO1):c.187C>T (p.Leu63=)
|
|
|
NM_012123.4(MTO1):c.1911A>C (p.Pro637=)
|
|
|
NM_012123.4(MTO1):c.1911A>G (p.Pro637=)
|
|
|
NM_012123.4(MTO1):c.1917+10T>C
|
|
|
NM_012123.4(MTO1):c.1917+11A>G
|
rs2150045068
|
|
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>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.1986G>A (p.Lys662=)
|
|
|
NM_012123.4(MTO1):c.1989C>T (p.Thr663=)
|
|
|
NM_012123.4(MTO1):c.1999A>C (p.Arg667=)
|
|
|
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.240C>T (p.Ser80=)
|
|
|
NM_012123.4(MTO1):c.273G>A (p.Arg91=)
|
|
|
NM_012123.4(MTO1):c.276A>G (p.Glu92=)
|
rs755181300
|
|
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.312T>C (p.Cys104=)
|
|
|
NM_012123.4(MTO1):c.33C>T (p.Val11=)
|
rs1430945976
|
|
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.384G>A (p.Gln128=)
|
|
|
NM_012123.4(MTO1):c.390T>C (p.Asp130=)
|
|
|
NM_012123.4(MTO1):c.399C>G (p.Leu133=)
|
rs994257546
|
|
NM_012123.4(MTO1):c.408G>A (p.Gln136=)
|
|
|
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.447T>G (p.Thr149=)
|
|
|
NM_012123.4(MTO1):c.453G>A (p.Gln151=)
|
|
|
NM_012123.4(MTO1):c.45C>T (p.Phe15=)
|
|
|
NM_012123.4(MTO1):c.535+17G>A
|
|
|
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.612A>C (p.Gly204=)
|
|
|
NM_012123.4(MTO1):c.613T>C (p.Leu205=)
|
rs1464415140
|
|
NM_012123.4(MTO1):c.621G>T (p.Thr207=)
|
|
|
NM_012123.4(MTO1):c.630A>G (p.Ala210=)
|
rs2150031442
|
|
NM_012123.4(MTO1):c.660A>G (p.Gly220=)
|
|
|
NM_012123.4(MTO1):c.666T>C (p.Ala222=)
|
|
|
NM_012123.4(MTO1):c.672A>G (p.Thr224=)
|
|
|
NM_012123.4(MTO1):c.681G>A (p.Lys227=)
|
rs781586985
|
|
NM_012123.4(MTO1):c.708G>A (p.Lys236=)
|
|
|
NM_012123.4(MTO1):c.762C>T (p.Asn254=)
|
rs1771216320
|
|
NM_012123.4(MTO1):c.774G>T (p.Pro258=)
|
rs748667460
|
|
NM_012123.4(MTO1):c.783A>G (p.Pro261=)
|
|
|
NM_012123.4(MTO1):c.813A>G (p.Thr271=)
|
|
|
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.828A>G (p.Pro276=)
|
|
|
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.882T>A (p.Ile294=)
|
|
|
NM_012123.4(MTO1):c.924G>A (p.Thr308=)
|
rs962712902
|
|
NM_012123.4(MTO1):c.938+20G>T
|
|
|
NM_012123.4(MTO1):c.939-10T>C
|
|
|
NM_012123.4(MTO1):c.939-10del
|
rs1064794699
|
|
NM_012123.4(MTO1):c.93G>A (p.Ala31=)
|
|
|
NM_012123.4(MTO1):c.96C>G (p.Pro32=)
|
rs938648582
|
|
NM_012123.4(MTO1):c.987A>G (p.Leu329=)
|
|
|
NM_012123.4(MTO1):c.9C>T (p.Tyr3=)
|
|
|
NM_018127.7(ELAC2):c.1011G>T (p.Val337=)
|
|
|
NM_018127.7(ELAC2):c.1014C>T (p.Ala338=)
|
rs2143613110
|
|
NM_018127.7(ELAC2):c.102G>A (p.Lys34=)
|
|
|
NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)
|
|
|
NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)
|
|
|
NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)
|
|
|
NM_018127.7(ELAC2):c.1079+20G>A
|
|
|
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.1080-20C>A
|
|
|
NM_018127.7(ELAC2):c.1080-5C>T
|
|
|
NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)
|
|
|
NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)
|
|
|
NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)
|
|
|
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.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.1212C>T (p.Arg404=)
|
rs2143605832
|
|
NM_018127.7(ELAC2):c.1218+19C>T
|
|
|
NM_018127.7(ELAC2):c.1219-12T>C
|
|
|
NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)
|
|
|
NM_018127.7(ELAC2):c.1242G>A (p.Val414=)
|
|
|
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.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.1305-8_1305-7insTC
|
|
|
NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)
|
|
|
NM_018127.7(ELAC2):c.1377C>T (p.Ser459=)
|
rs1337946720
|
|
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.1407C>T (p.Asp469=)
|
|
|
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.1424-5dup
|
|
|
NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)
|
|
|
NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)
|
|
|
NM_018127.7(ELAC2):c.144G>T (p.Pro48=)
|
|
|
NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)
|
|
|
NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)
|
|
|
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=)
|
rs140335642
|
|
NM_018127.7(ELAC2):c.1520+7T>C
|
|
|
NM_018127.7(ELAC2):c.1520+9C>T
|
|
|
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>T (p.Thr520=)
|
|
|
NM_018127.7(ELAC2):c.156C>A (p.Ser52=)
|
|
|
NM_018127.7(ELAC2):c.159C>G (p.Gly53=)
|
|
|
NM_018127.7(ELAC2):c.1626G>A (p.Val542=)
|
|
|
NM_018127.7(ELAC2):c.162C>G (p.Gly54=)
|
rs2143697041
|
|
NM_018127.7(ELAC2):c.1638C>T (p.His546=)
|
rs1489337164
|
|
NM_018127.7(ELAC2):c.1641G>A (p.Leu547=)
|
rs1598205310
|
|
NM_018127.7(ELAC2):c.1644C>T (p.His548=)
|
|
|
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+8T>C
|
|
|
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.1674C>T (p.Ile558=)
|
|
|
NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)
|
|
|
NM_018127.7(ELAC2):c.1696T>C (p.Leu566=)
|
rs2143563741
|
|
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.1713G>A (p.Lys571=)
|
|
|
NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)
|
|
|
NM_018127.7(ELAC2):c.171C>G (p.Thr57=)
|
|
|
NM_018127.7(ELAC2):c.174G>C (p.Val58=)
|
|
|
NM_018127.7(ELAC2):c.1794C>T (p.Val598=)
|
|
|
NM_018127.7(ELAC2):c.1808+14del
|
rs761236461
|
|
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.180G>C (p.Leu60=)
|
|
|
NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)
|
|
|
NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)
|
|
|
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=)
|
rs375891204
|
|
NM_018127.7(ELAC2):c.1908+16G>A
|
rs773964699
|
|
NM_018127.7(ELAC2):c.1908+16G>T
|
rs773964699
|
|
NM_018127.7(ELAC2):c.1908+20G>A
|
|
|
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.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.1935C>T (p.Cys645=)
|
|
|
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.1986C>T (p.Val662=)
|
rs772271496
|
|
NM_018127.7(ELAC2):c.198T>C (p.Gly66=)
|
|
|
NM_018127.7(ELAC2):c.2010C>T (p.Cys670=)
|
rs1598197387
|
|
NM_018127.7(ELAC2):c.2029+10G>A
|
rs2143554371
|
|
NM_018127.7(ELAC2):c.2029+19A>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.2073T>C (p.Asp691=)
|
|
|
NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)
|
|
|
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.2121A>G (p.Gln707=)
|
|
|
NM_018127.7(ELAC2):c.2142G>T (p.Arg714=)
|
rs878855050
|
|
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.2184C>G (p.Arg728=)
|
rs2143547737
|
|
NM_018127.7(ELAC2):c.2190C>T (p.Ala730=)
|
rs2143547695
|
|
NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)
|
|
|
NM_018127.7(ELAC2):c.222C>T (p.Leu74=)
|
|
|
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.2254-13T>C
|
|
|
NM_018127.7(ELAC2):c.2254-14A>G
|
|
|
NM_018127.7(ELAC2):c.2254-9G>C
|
|
|
NM_018127.7(ELAC2):c.2289G>C (p.Leu763=)
|
rs141048290
|
|
NM_018127.7(ELAC2):c.2325C>T (p.Ile775=)
|
rs775479429
|
|
NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)
|
|
|
NM_018127.7(ELAC2):c.234C>G (p.Ser78=)
|
|
|
NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)
|
|
|
NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)
|
|
|
NM_018127.7(ELAC2):c.2412G>A (p.Glu804=)
|
rs1165224986
|
|
NM_018127.7(ELAC2):c.2421G>A (p.Glu807=)
|
rs2143539338
|
|
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.246-14T>C
|
|
|
NM_018127.7(ELAC2):c.246-18G>A
|
|
|
NM_018127.7(ELAC2):c.246-20G>C
|
|
|
NM_018127.7(ELAC2):c.246-7C>A
|
|
|
NM_018127.7(ELAC2):c.246-8T>C
|
|
|
NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)
|
|
|
NM_018127.7(ELAC2):c.282C>T (p.Leu94=)
|
rs2143692376
|
|
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.297-5del
|
|
|
NM_018127.7(ELAC2):c.297-8A>G
|
|
|
NM_018127.7(ELAC2):c.297-9C>A
|
|
|
NM_018127.7(ELAC2):c.30C>G (p.Ser10=)
|
|
|
NM_018127.7(ELAC2):c.333A>G (p.Thr111=)
|
|
|
NM_018127.7(ELAC2):c.33G>A (p.Ala11=)
|
|
|
NM_018127.7(ELAC2):c.360C>T (p.Gly120=)
|
|
|
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.402A>G (p.Pro134=)
|
|
|
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+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.444C>G (p.Leu148=)
|
|
|
NM_018127.7(ELAC2):c.447A>G (p.Glu149=)
|
rs2143678294
|
|
NM_018127.7(ELAC2):c.465T>C (p.Ser155=)
|
|
|
NM_018127.7(ELAC2):c.490+11G>C
|
|
|
NM_018127.7(ELAC2):c.491-4G>T
|
|
|
NM_018127.7(ELAC2):c.491-5T>C
|
rs2143670362
|
|
NM_018127.7(ELAC2):c.501C>G (p.Pro167=)
|
|
|
NM_018127.7(ELAC2):c.519C>T (p.Tyr173=)
|
rs2143670005
|
|
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.560-6G>A
|
rs2143661977
|
|
NM_018127.7(ELAC2):c.576A>G (p.Gly192=)
|
rs1410606129
|
|
NM_018127.7(ELAC2):c.606G>A (p.Arg202=)
|
|
|
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.660T>C (p.Asn220=)
|
|
|
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.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.739-20C>G
|
|
|
NM_018127.7(ELAC2):c.75A>C (p.Ala25=)
|
|
|
NM_018127.7(ELAC2):c.792C>T (p.Leu264=)
|
|
|
NM_018127.7(ELAC2):c.797+16A>G
|
rs895800256
|
|
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.828T>C (p.Ala276=)
|
|
|
NM_018127.7(ELAC2):c.855T>C (p.Thr285=)
|
|
|
NM_018127.7(ELAC2):c.858T>C (p.His286=)
|
|
|
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.897T>C (p.Pro299=)
|
|
|
NM_018127.7(ELAC2):c.900A>G (p.Pro300=)
|
rs1567758616
|
|
NM_018127.7(ELAC2):c.921G>C (p.Val307=)
|
|
|
NM_018127.7(ELAC2):c.924G>C (p.Val308=)
|
rs2143621668
|
|
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.984-3del
|
|
|
NM_018127.7(ELAC2):c.984-4C>T
|
rs1375270986
|
|
NM_018127.7(ELAC2):c.984-5C>T
|
rs752324594
|
|
NM_018127.7(ELAC2):c.996G>A (p.Lys332=)
|
|
|
NM_018127.7(ELAC2):c.9G>T (p.Ala3=)
|
|
|
NM_020408.6(LYRM4):c.-11_-10dup
|
rs561083109
|
|
NM_020745.4(AARS2):c.1189-16_1189-14del
|
rs144914586
|
|
NM_024537.4(CARS2):c.1008C>G (p.Ser336=)
|
|
|
NM_024537.4(CARS2):c.1041C>T (p.Ser347=)
|
rs763055454
|
|
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.1059C>A (p.Ile353=)
|
|
|
NM_024537.4(CARS2):c.1068T>C (p.Ser356=)
|
|
|
NM_024537.4(CARS2):c.1071C>T (p.Asp357=)
|
rs200826696
|
|
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.1104G>A (p.Leu368=)
|
|
|
NM_024537.4(CARS2):c.1140C>T (p.Tyr380=)
|
|
|
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.1193+16A>C
|
rs2139683484
|
|
NM_024537.4(CARS2):c.1193+20C>A
|
|
|
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.1230G>A (p.Leu410=)
|
|
|
NM_024537.4(CARS2):c.1296A>G (p.Gly432=)
|
rs1351991696
|
|
NM_024537.4(CARS2):c.1312C>T (p.Leu438=)
|
|
|
NM_024537.4(CARS2):c.1317+17G>A
|
|
|
NM_024537.4(CARS2):c.1318-18C>G
|
|
|
NM_024537.4(CARS2):c.1356C>T (p.Ala452=)
|
rs2139674418
|
|
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.1416+10A>T
|
rs1887805574
|
|
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.1419C>T (p.Tyr473=)
|
|
|
NM_024537.4(CARS2):c.141C>T (p.Gly47=)
|
rs749408803
|
|
NM_024537.4(CARS2):c.144G>A (p.Arg48=)
|
rs2139947251
|
|
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.1503G>T (p.Ala501=)
|
|
|
NM_024537.4(CARS2):c.1524G>C (p.Thr508=)
|
|
|
NM_024537.4(CARS2):c.1527G>A (p.Gly509=)
|
|
|
NM_024537.4(CARS2):c.1596C>T (p.Gly532=)
|
rs2139666777
|
|
NM_024537.4(CARS2):c.1599G>A (p.Leu533=)
|
|
|
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+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.1624-7T>C
|
|
|
NM_024537.4(CARS2):c.1624-9C>T
|
rs2139663645
|
|
NM_024537.4(CARS2):c.1635T>C (p.Ser545=)
|
rs1284618994
|
|
NM_024537.4(CARS2):c.1644C>G (p.Ser548=)
|
rs1456791733
|
|
NM_024537.4(CARS2):c.1662T>C (p.Asp554=)
|
|
|
NM_024537.4(CARS2):c.1683dup (p.Ser562fs)
|
rs575601185
|
|
NM_024537.4(CARS2):c.193C>T (p.Leu65=)
|
|
|
NM_024537.4(CARS2):c.224+10G>A
|
rs569593326
|
|
NM_024537.4(CARS2):c.224+10G>T
|
rs569593326
|
|
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.243T>C (p.Thr81=)
|
|
|
NM_024537.4(CARS2):c.24A>T (p.Pro8=)
|
rs1398511016
|
|
NM_024537.4(CARS2):c.255T>C (p.His85=)
|
|
|
NM_024537.4(CARS2):c.258G>C (p.Ala86=)
|
|
|
NM_024537.4(CARS2):c.270T>C (p.His90=)
|
rs529804222
|
|
NM_024537.4(CARS2):c.275+12G>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.282T>C (p.Tyr94=)
|
|
|
NM_024537.4(CARS2):c.30G>C (p.Leu10=)
|
|
|
NM_024537.4(CARS2):c.33C>T (p.Gly11=)
|
rs907423199
|
|
NM_024537.4(CARS2):c.354T>C (p.Ile118=)
|
|
|
NM_024537.4(CARS2):c.394-10C>A
|
rs1294731262
|
|
NM_024537.4(CARS2):c.394-19A>G
|
|
|
NM_024537.4(CARS2):c.394-20C>A
|
|
|
NM_024537.4(CARS2):c.408C>G (p.Pro136=)
|
rs755243580
|
|
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+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.466-8C>T
|
|
|
NM_024537.4(CARS2):c.498C>T (p.Thr166=)
|
|
|
NM_024537.4(CARS2):c.55C>T (p.Leu19=)
|
|
|
NM_024537.4(CARS2):c.564G>C (p.Thr188=)
|
rs76988055
|
|
NM_024537.4(CARS2):c.571+10A>G
|
|
|
NM_024537.4(CARS2):c.571+12G>A
|
|
|
NM_024537.4(CARS2):c.572-15T>A
|
rs2139840036
|
|
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.606C>T (p.Asp202=)
|
|
|
NM_024537.4(CARS2):c.60C>G (p.Gly20=)
|
|
|
NM_024537.4(CARS2):c.627C>T (p.Gly209=)
|
|
|
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.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.656-18A>C
|
|
|
NM_024537.4(CARS2):c.656-9C>T
|
|
|
NM_024537.4(CARS2):c.66G>C (p.Gly22=)
|
|
|
NM_024537.4(CARS2):c.717G>A (p.Glu239=)
|
|
|
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.783T>C (p.Ala261=)
|
|
|
NM_024537.4(CARS2):c.785+14C>T
|
|
|
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.786-6T>C
|
rs1372358723
|
|
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.885G>A (p.Gln295=)
|
|
|
NM_024537.4(CARS2):c.894G>A (p.Gln298=)
|
|
|
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.921G>T (p.Gly307=)
|
|
|
NM_024537.4(CARS2):c.96G>A (p.Arg32=)
|
|
|
NM_024537.4(CARS2):c.987+19_987+23del
|
|
|
NM_024537.4(CARS2):c.987+20G>T
|
rs747353959
|
|
NM_024537.4(CARS2):c.988-13C>G
|
rs2062199603
|
|
NM_024537.4(CARS2):c.988-17G>C
|
rs1212397461
|
|
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_024996.7(GFM1):c.*116C>T
|
rs115593809
|
|
NM_024996.7(GFM1):c.*454_*456del
|
rs367730845
|
|
NM_024996.7(GFM1):c.-73C>T
|
rs116614958
|
|
NM_024996.7(GFM1):c.1308C>T (p.Asn436=)
|
rs1187874654
|
|
NM_024996.7(GFM1):c.192A>G (p.Glu64=)
|
rs1576720639
|
|
NM_024996.7(GFM1):c.498C>T (p.Asn166=)
|
rs762364300
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
NM_025150.5(TARS2):c.1719-17C>A
|
rs201218331
|
|
NM_033109.5(PNPT1):c.1285-4del
|
rs745754666
|
|
NM_152269.5(MTRFR):c.*696_*699del
|
rs202152701
|
|
NM_152269.5(MTRFR):c.*711_*713del
|
rs148010033
|
|
NM_152269.5(MTRFR):c.123C>A (p.Val41=)
|
|
|
NM_152269.5(MTRFR):c.153A>G (p.Ala51=)
|
|
|
NM_152269.5(MTRFR):c.204C>T (p.His68=)
|
|
|
NM_152269.5(MTRFR):c.234C>A (p.Thr78=)
|
rs140942886
|
|
NM_152269.5(MTRFR):c.246G>A (p.Val82=)
|
rs1593287730
|
|
NM_152269.5(MTRFR):c.258C>T (p.His86=)
|
|
|
NM_152269.5(MTRFR):c.267A>G (p.Ser89=)
|
|
|
NM_152269.5(MTRFR):c.282+15G>A
|
|
|
NM_152269.5(MTRFR):c.282+18G>A
|
|
|
NM_152269.5(MTRFR):c.283-10T>C
|
|
|
NM_152269.5(MTRFR):c.283-12_283-10del
|
|
|
NM_152269.5(MTRFR):c.283-13T>C
|
|
|
NM_152269.5(MTRFR):c.283-7_283-6del
|
|
|
NM_152269.5(MTRFR):c.283-8T>G
|
|
|
NM_152269.5(MTRFR):c.303T>C (p.Val101=)
|
rs2048186948
|
|
NM_152269.5(MTRFR):c.357C>T (p.Phe119=)
|
|
|
NM_152269.5(MTRFR):c.372C>T (p.Asn124=)
|
|
|
NM_152269.5(MTRFR):c.423G>A (p.Arg141=)
|
|
|
NM_152269.5(MTRFR):c.426A>G (p.Lys142=)
|
|
|
NM_152269.5(MTRFR):c.450A>G (p.Glu150=)
|
|
|
NM_152269.5(MTRFR):c.462A>T (p.Leu154=)
|
rs1465610404
|
|
NM_152269.5(MTRFR):c.93G>A (p.Leu31=)
|
|
|
NM_152269.5(MTRFR):c.99C>T (p.Ser33=)
|
rs2138792659
|
|
NM_152269.5(MTRFR):c.9C>T (p.Thr3=)
|
|
|