NM_001083614.2(EARS2):c.*535dup
|
rs11300207
|
0.15238
|
NM_020745.4(AARS2):c.750-5G>A
|
rs78410483
|
0.00739
|
NM_020745.4(AARS2):c.*718C>A
|
rs140359685
|
0.00491
|
NM_003321.5(TUFM):c.*561A>T
|
rs184878749
|
0.00435
|
NM_152269.5(MTRFR):c.*809A>C
|
rs148902117
|
0.00373
|
NM_005726.6(TSFM):c.24C>T (p.Arg8=)
|
rs138461986
|
0.00209
|
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00196
|
NM_005726.6(TSFM):c.*291T>C
|
rs191666277
|
0.00192
|
NM_001083614.2(EARS2):c.*1138G>A
|
rs10239
|
0.00188
|
NM_020745.4(AARS2):c.*394C>A
|
rs545769603
|
0.00183
|
NM_020745.4(AARS2):c.*997G>T
|
rs146753959
|
0.00181
|
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_020745.4(AARS2):c.*982G>A
|
rs192274662
|
0.00158
|
NM_020745.4(AARS2):c.*448G>T
|
rs565803591
|
0.00157
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
NM_020745.4(AARS2):c.*256A>G
|
rs182434401
|
0.00144
|
NM_001083614.2(EARS2):c.*914T>A
|
rs185800148
|
0.00142
|
NM_003321.4(TUFM):c.-128G>C
|
rs555362028
|
0.00129
|
NM_024996.7(GFM1):c.*950C>T
|
rs372706819
|
0.00124
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
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_005726.6(TSFM):c.*210G>A
|
rs112956536
|
0.00103
|
NM_145691.4(ATPAF2):c.*132C>T
|
rs765325833
|
0.00102
|
NM_001083614.2(EARS2):c.*2309G>A
|
rs368686039
|
0.00090
|
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_005726.6(TSFM):c.69T>A (p.Leu23=)
|
rs147317818
|
0.00086
|
NM_020745.4(AARS2):c.*627G>A
|
rs539810987
|
0.00085
|
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)
|
rs140411575
|
0.00081
|
NM_004208.4(AIFM1):c.-185G>A
|
rs770317876
|
0.00080
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
NM_020745.4(AARS2):c.1534G>C (p.Asp512His)
|
rs146512155
|
0.00073
|
NM_020745.4(AARS2):c.2598+11G>A
|
rs376223052
|
0.00073
|
NM_003321.5(TUFM):c.1120G>A (p.Val374Met)
|
rs114590091
|
0.00071
|
NM_020191.4(MRPS22):c.327A>G (p.Ala109=)
|
rs138148950
|
0.00071
|
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu)
|
rs147932653
|
0.00066
|
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_005726.6(TSFM):c.760C>T (p.Arg254Cys)
|
rs200132571
|
0.00060
|
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys)
|
rs146924860
|
0.00060
|
NM_024996.7(GFM1):c.1324-15T>A
|
rs375168014
|
0.00057
|
NM_145691.4(ATPAF2):c.*485G>A
|
rs147889525
|
0.00056
|
NM_001083614.2(EARS2):c.*917C>T
|
rs756961049
|
0.00054
|
NM_024996.7(GFM1):c.235-14G>A
|
rs201304690
|
0.00053
|
NM_003321.5(TUFM):c.*445G>A
|
rs542944452
|
0.00051
|
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_001083614.2(EARS2):c.*966G>C
|
rs151312469
|
0.00046
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
NM_020745.4(AARS2):c.1569C>T (p.Ser523=)
|
rs374173311
|
0.00042
|
NM_005726.6(TSFM):c.688G>T (p.Val230Leu)
|
rs151248026
|
0.00041
|
NM_145691.4(ATPAF2):c.-90C>A
|
rs113286105
|
0.00040
|
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly)
|
rs143241583
|
0.00040
|
NM_024996.7(GFM1):c.-38C>T
|
rs377352238
|
0.00037
|
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)
|
rs373952002
|
0.00036
|
NM_145691.4(ATPAF2):c.-85C>T
|
rs533220549
|
0.00033
|
NM_005726.6(TSFM):c.814G>C (p.Asp272His)
|
rs138911653
|
0.00030
|
NM_017866.5(TMEM70):c.-95C>T
|
rs556447943
|
0.00030
|
NM_003321.5(TUFM):c.759C>T (p.Pro253=)
|
rs185379779
|
0.00029
|
NM_024996.7(GFM1):c.1494A>G (p.Glu498=)
|
rs149454742
|
0.00029
|
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_020191.4(MRPS22):c.787C>T (p.Arg263Cys)
|
rs147739245
|
0.00027
|
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)
|
rs190393538
|
0.00026
|
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)
|
rs376562033
|
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_145691.4(ATPAF2):c.*526C>T
|
rs780010191
|
0.00024
|
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_020745.4(AARS2):c.1192G>A (p.Ala398Thr)
|
rs202171981
|
0.00021
|
NM_020745.4(AARS2):c.2683-10C>T
|
rs372088350
|
0.00021
|
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser)
|
rs141020107
|
0.00021
|
NM_001083614.2(EARS2):c.873C>T (p.Asp291=)
|
rs61742045
|
0.00019
|
NM_020745.4(AARS2):c.*1811C>T
|
rs546498237
|
0.00019
|
NM_020745.4(AARS2):c.*408G>C
|
rs780339845
|
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_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_020745.4(AARS2):c.*1473del
|
rs766302064
|
0.00016
|
NM_145691.4(ATPAF2):c.*250C>T
|
rs141638018
|
0.00016
|
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_020745.4(AARS2):c.*1293A>G
|
rs1054092802
|
0.00015
|
NM_001083614.2(EARS2):c.*180A>G
|
rs780381864
|
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_152269.5(MTRFR):c.112G>A (p.Val38Ile)
|
rs146534475
|
0.00014
|
NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys)
|
rs746838793
|
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_020745.4(AARS2):c.*9C>T
|
rs772455600
|
0.00012
|
NM_024996.7(GFM1):c.*429C>T
|
rs914802350
|
0.00012
|
NM_001083614.2(EARS2):c.351A>G (p.Gln117=)
|
rs375906347
|
0.00011
|
NM_003321.5(TUFM):c.*398G>A
|
rs560701501
|
0.00011
|
NM_020191.4(MRPS22):c.652A>G (p.Met218Val)
|
rs201627731
|
0.00011
|
NM_152269.5(MTRFR):c.*761G>A
|
rs551684840
|
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.558G>A (p.Ala186=)
|
rs374363396
|
0.00010
|
NM_003321.5(TUFM):c.-44G>T
|
rs781545296
|
0.00010
|
NM_005726.6(TSFM):c.*412C>T
|
rs184926061
|
0.00010
|
NM_020191.4(MRPS22):c.340-14T>A
|
rs377459479
|
0.00010
|
NM_024996.7(GFM1):c.*1033A>G
|
rs919876624
|
0.00010
|
NM_024996.7(GFM1):c.*578C>T
|
rs758670778
|
0.00010
|
NM_152269.5(MTRFR):c.*143G>T
|
rs886049042
|
0.00010
|
NM_001083614.2(EARS2):c.*1809T>C
|
rs886051825
|
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_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.940G>A (p.Glu314Lys)
|
rs546851135
|
0.00009
|
NM_001083614.2(EARS2):c.*1027G>A
|
rs932873198
|
0.00008
|
NM_005726.6(TSFM):c.*262T>A
|
rs758314098
|
0.00008
|
NM_020191.4(MRPS22):c.799T>C (p.Tyr267His)
|
rs762299963
|
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_024996.7(GFM1):c.1948A>G (p.Met650Val)
|
rs147847472
|
0.00008
|
NM_003321.5(TUFM):c.810C>T (p.Ser270=)
|
rs528294620
|
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.761G>C (p.Gly254Ala)
|
rs199919912
|
0.00007
|
NM_001083614.1(EARS2):c.-19G>A
|
rs377067442
|
0.00006
|
NM_001083614.2(EARS2):c.1488+15C>T
|
rs201607271
|
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_005726.6(TSFM):c.*176T>C
|
rs765248918
|
0.00006
|
NM_005726.6(TSFM):c.140A>G (p.Lys47Arg)
|
rs373659284
|
0.00006
|
NM_020191.4(MRPS22):c.172+7G>T
|
rs777163637
|
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_024996.7(GFM1):c.*164C>A
|
rs924668466
|
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_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_024996.7(GFM1):c.234+12C>T
|
rs372189223
|
0.00005
|
NM_024996.7(GFM1):c.702A>G (p.Arg234=)
|
rs377418512
|
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_003321.5(TUFM):c.35C>G (p.Ala12Gly)
|
rs559685074
|
0.00004
|
NM_020745.4(AARS2):c.60C>T (p.Pro20=)
|
rs781361302
|
0.00004
|
NM_024996.7(GFM1):c.596C>T (p.Ala199Val)
|
rs145247687
|
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_003321.5(TUFM):c.*349G>A
|
rs749982691
|
0.00003
|
NM_003321.5(TUFM):c.*517G>C
|
rs886051875
|
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.787A>T (p.Met263Leu)
|
rs764183902
|
0.00003
|
NM_005726.6(TSFM):c.816C>T (p.Asp272=)
|
rs183575246
|
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.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_024996.7(GFM1):c.1852A>G (p.Met618Val)
|
rs767798328
|
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.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_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_005726.6(TSFM):c.*656A>G
|
rs985828528
|
0.00002
|
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg)
|
rs374679403
|
0.00002
|
NM_006576.4(AVIL):c.*404T>C
|
rs58949411
|
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_020745.4(AARS2):c.*51T>C
|
rs765200517
|
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_024996.7(GFM1):c.*119G>A
|
rs886058122
|
0.00002
|
NM_024996.7(GFM1):c.*559T>C
|
rs886058124
|
0.00002
|
NM_152269.4(MTRFR):c.-128C>T
|
rs886049039
|
0.00002
|
NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser)
|
rs751310720
|
0.00002
|
NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys)
|
rs571483034
|
0.00001
|
NM_001083614.2(EARS2):c.1491A>G (p.Gln497=)
|
rs745678462
|
0.00001
|
NM_001083614.2(EARS2):c.197A>T (p.Lys66Met)
|
rs779972107
|
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.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_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.858+13T>G
|
rs769724106
|
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.361-14A>G
|
rs759604491
|
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_006576.4(AVIL):c.*433A>C
|
rs1397583217
|
0.00001
|
NM_016065.3(MRPS16):c.-183A>G
|
rs886047203
|
0.00001
|
NM_020191.4(MRPS22):c.90G>A (p.Gln30=)
|
rs772766573
|
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.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.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.2860G>A (p.Ala954Thr)
|
rs771293152
|
0.00001
|
NM_020745.4(AARS2):c.426A>G (p.Glu142=)
|
rs779650766
|
0.00001
|
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)
|
rs200187887
|
0.00001
|
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn)
|
rs1023544297
|
0.00001
|
NM_024996.7(GFM1):c.1910-1G>A
|
rs1462851267
|
0.00001
|
NM_024996.7(GFM1):c.424del (p.Val142fs)
|
rs886058120
|
0.00001
|
NM_024996.7(GFM1):c.897C>T (p.Ser299=)
|
rs763546447
|
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_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.353T>C (p.Val118Ala)
|
rs767743830
|
0.00001
|
NM_152269.5(MTRFR):c.90G>A (p.Thr30=)
|
rs775127232
|
0.00001
|
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.*1720G>A
|
rs886051826
|
|
NM_001083614.2(EARS2):c.*1902dup
|
rs79556186
|
|
NM_001083614.2(EARS2):c.*824G>A
|
rs566896041
|
|
NM_001083614.2(EARS2):c.*936T>C
|
rs532554451
|
|
NM_001083614.2(EARS2):c.102G>T (p.Gly34=)
|
rs1597032670
|
|
NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg)
|
rs774269217
|
|
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)
|
rs201941745
|
|
NM_001083614.2(EARS2):c.263C>T (p.Ala88Val)
|
rs201929423
|
|
NM_001083614.2(EARS2):c.874G>A (p.Val292Ile)
|
rs199575087
|
|
NM_001083614.2(EARS2):c.959-15C>T
|
rs554499460
|
|
NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro)
|
rs1366954580
|
|
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.248-13T>G
|
rs775737562
|
|
NM_003321.5(TUFM):c.519+14G>C
|
rs767512015
|
|
NM_003321.5(TUFM):c.519+15G>A
|
rs758912548
|
|
NM_003321.5(TUFM):c.825C>G (p.Gly275=)
|
rs1596602330
|
|
NM_003321.5(TUFM):c.923-9C>A
|
rs763468042
|
|
NM_004208.4(AIFM1):c.*49C>T
|
rs1057515766
|
|
NM_004208.4(AIFM1):c.-90G>C
|
rs780436043
|
|
NM_004208.4(AIFM1):c.697-4C>T
|
rs2030541270
|
|
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.232-8A>G
|
rs768661125
|
|
NM_005726.6(TSFM):c.233C>T (p.Ala78Val)
|
rs886049729
|
|
NM_005726.6(TSFM):c.375A>G (p.Thr125=)
|
rs886049730
|
|
NM_005726.6(TSFM):c.408G>A (p.Leu136=)
|
rs144109380
|
|
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.275-5T>G
|
rs763591161
|
|
NM_020191.4(MRPS22):c.1045T>A (p.Tyr349Asn)
|
rs886058024
|
|
NM_020191.4(MRPS22):c.648+19del
|
rs773240427
|
|
NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly)
|
rs1176249861
|
|
NM_020191.4(MRPS22):c.878+13T>C
|
rs1941178559
|
|
NM_020191.4(MRPS22):c.987+15del
|
rs372892045
|
|
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.*1326A>G
|
rs370057942
|
|
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.*1720C>T
|
rs140886261
|
|
NM_020745.4(AARS2):c.*279G>A
|
rs886061483
|
|
NM_020745.4(AARS2):c.*683C>G
|
rs764440099
|
|
NM_020745.4(AARS2):c.1040+1G>A
|
rs1561941287
|
|
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.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.2202G>A (p.Leu734=)
|
rs886061486
|
|
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.2794G>A (p.Gly932Ser)
|
rs886061485
|
|
NM_020745.4(AARS2):c.2937C>G (p.Thr979=)
|
rs200778121
|
|
NM_020745.4(AARS2):c.408T>C (p.Asn136=)
|
rs886061490
|
|
NM_020745.4(AARS2):c.57G>C (p.Ser19=)
|
rs1049916671
|
|
NM_020745.4(AARS2):c.750-9C>T
|
rs1786252044
|
|
NM_020745.4(AARS2):c.879C>T (p.Leu293=)
|
rs886061489
|
|
NM_024996.7(GFM1):c.*245A>C
|
rs886058123
|
|
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.-85C>T
|
rs893145449
|
|
NM_024996.7(GFM1):c.1083+3A>G
|
rs187690169
|
|
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.1406G>A (p.Gly469Asp)
|
rs750855220
|
|
NM_024996.7(GFM1):c.1518+1G>A
|
rs1560135491
|
|
NM_024996.7(GFM1):c.193C>A (p.Arg65=)
|
rs62286651
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln)
|
rs1202361363
|
|
NM_024996.7(GFM1):c.81+5C>T
|
rs886058119
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_024996.7(GFM1):c.987C>A (p.Leu329=)
|
rs531887279
|
|
NM_145691.4(ATPAF2):c.*108C>T
|
rs551939105
|
|
NM_145691.4(ATPAF2):c.*137C>T
|
rs1346345212
|
|
NM_145691.4(ATPAF2):c.*194C>A
|
rs143710995
|
|
NM_145691.4(ATPAF2):c.*26G>C
|
rs2044417447
|
|
NM_145691.4(ATPAF2):c.*337T>C
|
rs886052664
|
|
NM_145691.4(ATPAF2):c.*378A>T
|
rs530700735
|
|
NM_145691.4(ATPAF2):c.-107G>T
|
rs371822840
|
|
NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)
|
rs759676953
|
|
NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly)
|
rs141827488
|
|
NM_152269.4(MTRFR):c.-166T>C
|
rs1314198112
|
|
NM_152269.5(MTRFR):c.*139A>C
|
rs886049041
|
|
NM_152269.5(MTRFR):c.*14del
|
rs886049040
|
|
NM_152269.5(MTRFR):c.*159G>A
|
rs2048192268
|
|
NM_152269.5(MTRFR):c.*374A>G
|
rs2048195019
|
|
NM_152269.5(MTRFR):c.*468C>T
|
rs886049043
|
|
NM_152269.5(MTRFR):c.*647G>C
|
rs565651935
|
|
NM_152269.5(MTRFR):c.*702CAGT[1]
|
rs886049046
|
|
NM_152269.5(MTRFR):c.304G>A (p.Asp102Asn)
|
rs1565999184
|
|
NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg)
|
rs371852394
|
|