NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu)
|
rs334773
|
0.90803
|
NM_182916.3(TRNT1):c.148+38A>G
|
rs334772
|
0.90454
|
NM_017875.4(SLC25A38):c.456+36G>A
|
rs1995236
|
0.88218
|
NM_025215.6(PUS1):c.303+89G>T
|
rs10902480
|
0.82359
|
NM_182916.3(TRNT1):c.948A>G (p.Ala316=)
|
rs1705805
|
0.73295
|
NM_182916.3(TRNT1):c.1056+11A>G
|
rs1669348
|
0.53660
|
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)
|
rs2270770
|
0.39870
|
NM_017875.4(SLC25A38):c.626-36G>C
|
rs870843
|
0.27843
|
NM_017875.4(SLC25A38):c.*310A>T
|
rs12991
|
0.26507
|
NM_012062.5(DNM1L):c.*1093T>C
|
rs1971910
|
0.22300
|
NM_001040436.3(YARS2):c.*209G>C
|
rs10844337
|
0.15609
|
NM_012062.5(DNM1L):c.*271C>G
|
rs1020670
|
0.15598
|
NM_012062.5(DNM1L):c.*1213G>T
|
rs11052213
|
0.15596
|
NM_012062.5(DNM1L):c.*744A>T
|
rs1971911
|
0.15585
|
NM_012062.5(DNM1L):c.*21G>C
|
rs1059422
|
0.15548
|
NM_012062.5(DNM1L):c.*22A>T
|
rs3200103
|
0.15544
|
NM_001040436.3(YARS2):c.*643G>A
|
rs11052214
|
0.14502
|
NM_001040436.3(YARS2):c.291C>T (p.Gly97=)
|
rs11539444
|
0.14354
|
NM_012062.5(DNM1L):c.*1242G>A
|
rs10844336
|
0.14342
|
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val)
|
rs11539445
|
0.14334
|
NM_017875.4(SLC25A38):c.*588T>A
|
rs6890
|
0.12968
|
NM_025215.6(PUS1):c.-182C>T
|
rs61942438
|
0.12527
|
NM_182916.3(TRNT1):c.68= (p.Pro23=)
|
rs334773
|
0.09197
|
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val)
|
rs1340989
|
0.08733
|
NM_012062.5(DNM1L):c.*600C>T
|
rs3600
|
0.08008
|
NM_000032.5(ALAS2):c.*56A>C
|
rs6612250
|
0.06184
|
NM_182916.3(TRNT1):c.444G>T (p.Ala148=)
|
rs41399044
|
0.03661
|
NM_182916.3(TRNT1):c.133C>T (p.Leu45=)
|
rs75033443
|
0.03301
|
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=)
|
rs35339227
|
0.02168
|
NM_017875.4(SLC25A38):c.*472G>T
|
rs141567816
|
0.01690
|
NM_025215.6(PUS1):c.*16C>T
|
rs116003934
|
0.01667
|
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=)
|
rs6612251
|
0.01631
|
NM_012062.5(DNM1L):c.*1415T>C
|
rs114366772
|
0.01556
|
NM_017875.4(SLC25A38):c.-303A>C
|
rs114422738
|
0.01335
|
NM_017875.4(SLC25A38):c.-209A>G
|
rs143903497
|
0.01332
|
NM_001040436.3(YARS2):c.*191T>C
|
rs144235100
|
0.01314
|
NM_012062.5(DNM1L):c.*1156G>C
|
rs148183516
|
0.01245
|
NM_017875.4(SLC25A38):c.-292G>A
|
rs142441701
|
0.01159
|
NM_001040436.3(YARS2):c.*162A>G
|
rs11052215
|
0.01096
|
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=)
|
rs148729348
|
0.00975
|
NM_001271696.3(ABCB7):c.945-7C>T
|
rs5937938
|
0.00961
|
NM_025215.6(PUS1):c.*208T>C
|
rs148927836
|
0.00929
|
NM_000032.5(ALAS2):c.282A>G (p.Glu94=)
|
rs150313977
|
0.00815
|
NM_000032.4(ALAS2):c.-258C>G
|
rs140772352
|
0.00656
|
NM_000032.5(ALAS2):c.824-15C>T
|
rs727467
|
0.00627
|
NM_001040436.3(YARS2):c.1103+18T>C
|
rs190343859
|
0.00622
|
NM_017875.4(SLC25A38):c.*431G>A
|
rs73058292
|
0.00540
|
NM_017875.4(SLC25A38):c.*809C>T
|
rs71325527
|
0.00540
|
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His)
|
rs114142266
|
0.00447
|
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)
|
rs140031135
|
0.00412
|
NM_025215.6(PUS1):c.*119C>T
|
rs117705819
|
0.00401
|
NM_000032.5(ALAS2):c.*124C>T
|
rs145843014
|
0.00387
|
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)
|
rs144149294
|
0.00385
|
NM_004134.7(HSPA9):c.21T>G (p.Ala7=)
|
rs36043650
|
0.00380
|
NM_001040436.3(YARS2):c.342C>T (p.Gly114=)
|
rs115606831
|
0.00371
|
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn)
|
rs76655496
|
0.00371
|
NM_025215.6(PUS1):c.364C>A (p.Arg122=)
|
rs142954643
|
0.00369
|
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)
|
rs150055592
|
0.00362
|
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=)
|
rs150494562
|
0.00357
|
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=)
|
rs140584437
|
0.00356
|
NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly)
|
rs34127778
|
0.00344
|
NM_025215.6(PUS1):c.*253G>C
|
rs59879353
|
0.00343
|
NM_025215.6(PUS1):c.345C>T (p.Asp115=)
|
rs145798848
|
0.00332
|
NM_025215.6(PUS1):c.999G>C (p.Leu333=)
|
rs150359622
|
0.00323
|
NM_182916.3(TRNT1):c.231T>C (p.Asp77=)
|
rs114362638
|
0.00321
|
NM_025215.6(PUS1):c.621G>A (p.Thr207=)
|
rs142044204
|
0.00320
|
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)
|
rs146940902
|
0.00282
|
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)
|
rs147584361
|
0.00272
|
NM_017875.4(SLC25A38):c.*304C>T
|
rs113251543
|
0.00262
|
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met)
|
rs149378338
|
0.00233
|
NM_025215.6(PUS1):c.22C>T (p.Leu8=)
|
rs139227671
|
0.00222
|
NM_025215.6(PUS1):c.1197C>T (p.Phe399=)
|
rs35461276
|
0.00193
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg)
|
rs151288786
|
0.00187
|
NM_025215.5(PUS1):c.-453C>T
|
rs551126678
|
0.00180
|
NM_001040436.3(YARS2):c.*469C>T
|
rs182429712
|
0.00179
|
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His)
|
rs145704441
|
0.00158
|
NM_001040436.3(YARS2):c.456G>A (p.Ala152=)
|
rs201940521
|
0.00157
|
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp)
|
rs149447502
|
0.00151
|
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)
|
rs61995897
|
0.00151
|
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=)
|
rs149992222
|
0.00139
|
NM_001040436.3(YARS2):c.*126_*127del
|
rs141873255
|
0.00137
|
NM_025215.6(PUS1):c.545-7C>T
|
rs201541270
|
0.00128
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
NM_017875.4(SLC25A38):c.-161G>A
|
rs528990278
|
0.00120
|
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg)
|
rs187921784
|
0.00106
|
NM_182916.3(TRNT1):c.945C>T (p.Ile315=)
|
rs150742431
|
0.00100
|
NM_025215.6(PUS1):c.1140C>T (p.Thr380=)
|
rs138198591
|
0.00098
|
NM_017875.4(SLC25A38):c.*490G>A
|
rs150889211
|
0.00096
|
NM_001271696.3(ABCB7):c.1032+12A>G
|
rs148980611
|
0.00087
|
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln)
|
rs141305388
|
0.00077
|
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)
|
rs145430883
|
0.00076
|
NM_182916.3(TRNT1):c.862T>A (p.Phe288Ile)
|
rs147986219
|
0.00071
|
NM_001040436.3(YARS2):c.*360A>G
|
rs567955032
|
0.00069
|
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val)
|
rs149263693
|
0.00069
|
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)
|
rs142420345
|
0.00064
|
NM_025215.6(PUS1):c.1020C>T (p.Phe340=)
|
rs202059921
|
0.00061
|
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr)
|
rs150984011
|
0.00061
|
NM_182916.3(TRNT1):c.67C>G (p.Pro23Ala)
|
rs183596892
|
0.00058
|
NM_017875.4(SLC25A38):c.*305G>A
|
rs774462116
|
0.00056
|
NM_000032.5(ALAS2):c.653G>A (p.Arg218His)
|
rs185504937
|
0.00052
|
NM_017875.4(SLC25A38):c.-237G>A
|
rs527536267
|
0.00051
|
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
|
rs147630375
|
0.00047
|
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe)
|
rs201799139
|
0.00046
|
NM_025215.6(PUS1):c.456C>G (p.Ala152=)
|
rs369170782
|
0.00044
|
NM_001040436.3(YARS2):c.870T>C (p.Val290=)
|
rs142067801
|
0.00041
|
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln)
|
rs138561555
|
0.00039
|
NM_025215.6(PUS1):c.987C>T (p.Pro329=)
|
rs150880557
|
0.00038
|
NM_025215.6(PUS1):c.-244G>C
|
rs886049091
|
0.00037
|
NM_182916.3(TRNT1):c.513T>C (p.Asn171=)
|
rs190423145
|
0.00036
|
NM_182916.3(TRNT1):c.343-14G>A
|
rs373630283
|
0.00034
|
NM_017875.4(SLC25A38):c.456+10A>G
|
rs368989667
|
0.00033
|
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)
|
rs144319567
|
0.00032
|
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)
|
rs143328343
|
0.00031
|
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val)
|
rs143995220
|
0.00030
|
NM_017875.4(SLC25A38):c.*547C>T
|
rs559766369
|
0.00030
|
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala)
|
rs141545606
|
0.00030
|
NM_017875.4(SLC25A38):c.-69C>T
|
rs886058470
|
0.00029
|
NM_182916.3(TRNT1):c.462T>G (p.Thr154=)
|
rs528296646
|
0.00029
|
NM_000032.5(ALAS2):c.-34C>T
|
rs780642606
|
0.00028
|
NM_025215.6(PUS1):c.*152A>T
|
rs188546423
|
0.00027
|
NM_017875.4(SLC25A38):c.-225G>A
|
rs370977005
|
0.00025
|
NM_025215.6(PUS1):c.*164C>T
|
rs554815640
|
0.00025
|
NM_025215.6(PUS1):c.1065G>T (p.Pro355=)
|
rs147555676
|
0.00025
|
NM_182916.3(TRNT1):c.148+14A>G
|
rs374743708
|
0.00025
|
NM_001271696.3(ABCB7):c.*113A>G
|
rs916633787
|
0.00024
|
NM_182916.3(TRNT1):c.803-6C>T
|
rs183382145
|
0.00024
|
NM_017875.4(SLC25A38):c.*549G>A
|
rs189387075
|
0.00023
|
NM_001040436.3(YARS2):c.*24A>G
|
rs368305831
|
0.00021
|
NM_182916.3(TRNT1):c.107A>T (p.Glu36Val)
|
rs138682354
|
0.00021
|
NM_182916.3(TRNT1):c.1057-5C>T
|
rs111642741
|
0.00019
|
NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly)
|
rs148398677
|
0.00019
|
NM_182916.3(TRNT1):c.482-16C>G
|
rs200787934
|
0.00019
|
NM_025215.6(PUS1):c.*120G>A
|
rs569395844
|
0.00017
|
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val)
|
rs142072030
|
0.00017
|
NM_182916.3(TRNT1):c.482-3dup
|
rs766154756
|
0.00017
|
NM_025215.6(PUS1):c.*122C>T
|
rs747836180
|
0.00016
|
NM_182916.3(TRNT1):c.787G>A (p.Val263Met)
|
rs201873697
|
0.00014
|
NM_001040436.3(YARS2):c.934G>C (p.Asp312His)
|
rs190043383
|
0.00013
|
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)
|
rs369980078
|
0.00013
|
NM_001040436.3(YARS2):c.180G>A (p.Glu60=)
|
rs137922867
|
0.00011
|
NM_001040436.3(YARS2):c.819A>G (p.Leu273=)
|
rs149781186
|
0.00011
|
NM_017875.4(SLC25A38):c.*404G>A
|
rs886058473
|
0.00011
|
NM_017875.4(SLC25A38):c.-227G>A
|
rs886058468
|
0.00011
|
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys)
|
rs200791957
|
0.00011
|
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)
|
rs531290475
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_182916.3(TRNT1):c.148+17C>T
|
rs200220844
|
0.00011
|
NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala)
|
rs140935012
|
0.00011
|
NM_182916.3(TRNT1):c.500T>C (p.Phe167Ser)
|
rs145784140
|
0.00011
|
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
0.00010
|
NM_001040436.3(YARS2):c.*142T>C
|
rs190589666
|
0.00010
|
NM_025215.6(PUS1):c.111C>T (p.Pro37=)
|
rs543944505
|
0.00010
|
NM_001040436.3(YARS2):c.*627A>T
|
rs886049303
|
0.00009
|
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser)
|
rs150304121
|
0.00009
|
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg)
|
rs753674809
|
0.00009
|
NM_025215.6(PUS1):c.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
NM_025215.6(PUS1):c.904G>A (p.Val302Met)
|
rs148057665
|
0.00009
|
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)
|
rs370011798
|
0.00008
|
NM_182916.3(TRNT1):c.982A>G (p.Lys328Glu)
|
rs747469885
|
0.00008
|
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val)
|
rs372098364
|
0.00007
|
NM_017875.4(SLC25A38):c.626-5T>C
|
rs767154505
|
0.00007
|
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp)
|
rs143828069
|
0.00007
|
NM_025215.6(PUS1):c.649G>A (p.Val217Ile)
|
rs200591614
|
0.00007
|
NM_182916.3(TRNT1):c.1057-4G>A
|
rs150530824
|
0.00007
|
NM_182916.3(TRNT1):c.682A>G (p.Lys228Glu)
|
rs372627156
|
0.00007
|
NM_182916.3(TRNT1):c.848A>G (p.Lys283Arg)
|
rs201174442
|
0.00007
|
NM_001040436.3(YARS2):c.*478G>A
|
rs925773588
|
0.00006
|
NM_001040436.3(YARS2):c.810C>T (p.Thr270=)
|
rs145906298
|
0.00006
|
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln)
|
rs199863621
|
0.00006
|
NM_025215.6(PUS1):c.972C>T (p.Asp324=)
|
rs200065515
|
0.00006
|
NM_182916.3(TRNT1):c.1045T>G (p.Phe349Val)
|
rs760473412
|
0.00006
|
NM_182916.3(TRNT1):c.1066C>T (p.Pro356Ser)
|
rs375726663
|
0.00006
|
NM_182916.3(TRNT1):c.1081C>T (p.Arg361Cys)
|
rs770721227
|
0.00006
|
NM_182916.3(TRNT1):c.149-19T>G
|
rs3762748
|
0.00006
|
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val)
|
rs146717589
|
0.00006
|
NM_182916.3(TRNT1):c.667A>G (p.Ile223Val)
|
rs376974085
|
0.00006
|
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=)
|
rs368764287
|
0.00005
|
NM_001040436.3(YARS2):c.477C>T (p.Phe159=)
|
rs774325742
|
0.00005
|
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)
|
rs121918330
|
0.00005
|
NM_025215.6(PUS1):c.1068G>A (p.Leu356=)
|
rs201753270
|
0.00005
|
NM_025215.6(PUS1):c.564C>T (p.Gly188=)
|
rs369250859
|
0.00005
|
NM_025215.6(PUS1):c.984G>A (p.Ala328=)
|
rs143660941
|
0.00005
|
NM_182916.3(TRNT1):c.608+1G>T
|
rs529290186
|
0.00005
|
NM_182916.3(TRNT1):c.697A>G (p.Ile233Val)
|
rs377218988
|
0.00005
|
NM_182916.3(TRNT1):c.975T>C (p.Phe325=)
|
rs372604723
|
0.00005
|
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)
|
rs372675935
|
0.00004
|
NM_000032.5(ALAS2):c.416-11T>C
|
rs977637650
|
0.00004
|
NM_001040436.3(YARS2):c.*595G>A
|
rs961010458
|
0.00004
|
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His)
|
rs762786998
|
0.00004
|
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu)
|
rs745595833
|
0.00004
|
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu)
|
rs201842753
|
0.00004
|
NM_017875.4(SLC25A38):c.*370C>T
|
rs886058472
|
0.00004
|
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter)
|
rs147431446
|
0.00004
|
NM_025215.6(PUS1):c.-287G>C
|
rs886049088
|
0.00004
|
NM_025215.6(PUS1):c.1134C>T (p.Ile378=)
|
rs570364615
|
0.00004
|
NM_025215.6(PUS1):c.426C>T (p.Cys142=)
|
rs554459931
|
0.00004
|
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)
|
rs776342428
|
0.00004
|
NM_182916.3(TRNT1):c.1026A>G (p.Pro342=)
|
rs767388512
|
0.00004
|
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
|
rs199931785
|
0.00004
|
NM_182916.3(TRNT1):c.149-5C>T
|
rs200056840
|
0.00004
|
NM_182916.3(TRNT1):c.171C>T (p.His57=)
|
rs760080058
|
0.00004
|
NM_182916.3(TRNT1):c.502G>T (p.Asp168Tyr)
|
rs746543080
|
0.00004
|
NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter)
|
rs762873423
|
0.00004
|
NM_182916.3(TRNT1):c.567G>T (p.Gln189His)
|
rs760683285
|
0.00004
|
NM_182916.3(TRNT1):c.630C>T (p.Asp210=)
|
rs143629126
|
0.00004
|
NM_182916.3(TRNT1):c.744T>C (p.Gly248=)
|
rs201105941
|
0.00004
|
NM_182916.3(TRNT1):c.759T>C (p.His253=)
|
rs373038908
|
0.00004
|
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)
|
rs370699359
|
0.00004
|
NM_182916.3(TRNT1):c.88A>G (p.Met30Val)
|
rs375274931
|
0.00004
|
NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu)
|
rs376431679
|
0.00004
|
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=)
|
rs201740830
|
0.00003
|
NM_017875.4(SLC25A38):c.*395G>A
|
rs576792249
|
0.00003
|
NM_025215.6(PUS1):c.-246G>A
|
rs886049090
|
0.00003
|
NM_025215.6(PUS1):c.-266G>C
|
rs886049089
|
0.00003
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
NM_025215.6(PUS1):c.75-5C>T
|
rs1363622622
|
0.00003
|
NM_025215.6(PUS1):c.789C>G (p.Ile263Met)
|
rs755760215
|
0.00003
|
NM_182916.3(TRNT1):c.1079C>T (p.Thr360Ile)
|
rs776480350
|
0.00003
|
NM_182916.3(TRNT1):c.463A>G (p.Ile155Val)
|
rs770395497
|
0.00003
|
NM_182916.3(TRNT1):c.482-9A>G
|
rs766414708
|
0.00003
|
NM_182916.3(TRNT1):c.514G>A (p.Gly172Ser)
|
rs1459323924
|
0.00003
|
NM_182916.3(TRNT1):c.780T>C (p.Asp260=)
|
rs150433086
|
0.00003
|
NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys)
|
rs766270526
|
0.00003
|
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg)
|
rs758646032
|
0.00002
|
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)
|
rs763266087
|
0.00002
|
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys)
|
rs754772558
|
0.00002
|
NM_001040436.2(YARS2):c.-72C>G
|
rs552674058
|
0.00002
|
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter)
|
rs587777214
|
0.00002
|
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg)
|
rs541554381
|
0.00002
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
0.00002
|
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)
|
rs143865753
|
0.00002
|
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=)
|
rs763845960
|
0.00002
|
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser)
|
rs928144275
|
0.00002
|
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp)
|
rs765257355
|
0.00002
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
NM_025215.6(PUS1):c.683C>T (p.Thr228Met)
|
rs755448329
|
0.00002
|
NM_025215.6(PUS1):c.841G>A (p.Val281Met)
|
rs776626629
|
0.00002
|
NM_172002.5(HSCB):c.259dup (p.Thr87fs)
|
rs773607816
|
0.00002
|
NM_182916.3(TRNT1):c.1019del (p.Ser339_Ser340insTer)
|
rs755536381
|
0.00002
|
NM_182916.3(TRNT1):c.1162G>A (p.Val388Ile)
|
rs1006778318
|
0.00002
|
NM_182916.3(TRNT1):c.1190G>C (p.Gly397Ala)
|
rs1427498466
|
0.00002
|
NM_182916.3(TRNT1):c.1278A>C (p.Glu426Asp)
|
rs770832123
|
0.00002
|
NM_182916.3(TRNT1):c.184G>T (p.Ala62Ser)
|
rs150902982
|
0.00002
|
NM_182916.3(TRNT1):c.193G>C (p.Ala65Pro)
|
rs1354319879
|
0.00002
|
NM_182916.3(TRNT1):c.210A>C (p.Leu70Phe)
|
rs750056889
|
0.00002
|
NM_182916.3(TRNT1):c.282G>A (p.Gln94=)
|
rs527886866
|
0.00002
|
NM_182916.3(TRNT1):c.324C>T (p.His108=)
|
rs773050420
|
0.00002
|
NM_182916.3(TRNT1):c.325G>A (p.Gly109Arg)
|
rs765959111
|
0.00002
|
NM_182916.3(TRNT1):c.395A>G (p.Asp132Gly)
|
rs773948765
|
0.00002
|
NM_182916.3(TRNT1):c.43C>T (p.Arg15Cys)
|
rs766234875
|
0.00002
|
NM_182916.3(TRNT1):c.448C>T (p.Arg150Cys)
|
rs747332169
|
0.00002
|
NM_182916.3(TRNT1):c.549T>G (p.Phe183Leu)
|
rs774353592
|
0.00002
|
NM_182916.3(TRNT1):c.65T>G (p.Leu22Arg)
|
rs191706901
|
0.00002
|
NM_182916.3(TRNT1):c.847A>G (p.Lys283Glu)
|
rs749437475
|
0.00002
|
NM_182916.3(TRNT1):c.885T>C (p.Leu295=)
|
rs747603797
|
0.00002
|
NM_000032.5(ALAS2):c.110G>A (p.Arg37His)
|
rs756790340
|
0.00001
|
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=)
|
rs765603040
|
0.00001
|
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)
|
rs772107960
|
0.00001
|
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)
|
rs137852304
|
0.00001
|
NM_001002019.2(PUS1):c.-149G>C
|
rs1033621386
|
0.00001
|
NM_001040436.3(YARS2):c.*230A>G
|
rs371690622
|
0.00001
|
NM_001040436.3(YARS2):c.234T>C (p.Cys78=)
|
rs565102282
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser)
|
rs376934259
|
0.00001
|
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
|
rs1175852840
|
0.00001
|
NM_001271696.3(ABCB7):c.168+13T>C
|
rs1057515989
|
0.00001
|
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
|
rs141119655
|
0.00001
|
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile)
|
rs768257406
|
0.00001
|
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)
|
rs781524899
|
0.00001
|
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer)
|
rs763817505
|
0.00001
|
NM_016417.3(GLRX5):c.294A>G (p.Gln98=)
|
rs121908584
|
0.00001
|
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser)
|
rs773847949
|
0.00001
|
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys)
|
rs891111781
|
0.00001
|
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser)
|
rs765487627
|
0.00001
|
NM_017875.4(SLC25A38):c.*381G>C
|
rs2041837298
|
0.00001
|
NM_017875.4(SLC25A38):c.-325G>C
|
rs886058467
|
0.00001
|
NM_017875.4(SLC25A38):c.277-2A>C
|
rs1198314410
|
0.00001
|
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val)
|
rs759315257
|
0.00001
|
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)
|
rs765578993
|
0.00001
|
NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu)
|
rs762562272
|
0.00001
|
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)
|
rs764125735
|
0.00001
|
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val)
|
rs755205622
|
0.00001
|
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg)
|
rs1218815001
|
0.00001
|
NM_025215.6(PUS1):c.*192T>C
|
rs930371689
|
0.00001
|
NM_025215.6(PUS1):c.-80G>A
|
rs1215451501
|
0.00001
|
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser)
|
rs886049093
|
0.00001
|
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln)
|
rs146103500
|
0.00001
|
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg)
|
rs545204877
|
0.00001
|
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln)
|
rs745345996
|
0.00001
|
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter)
|
rs779651314
|
0.00001
|
NM_025215.6(PUS1):c.725C>T (p.Thr242Met)
|
rs886049092
|
0.00001
|
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)
|
rs869025309
|
0.00001
|
NM_025215.6(PUS1):c.894C>T (p.Val298=)
|
rs201908893
|
0.00001
|
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys)
|
rs573837941
|
0.00001
|
NM_025215.6(PUS1):c.966G>A (p.Lys322=)
|
rs746905159
|
0.00001
|
NM_025215.6(PUS1):c.973G>A (p.Val325Met)
|
rs1156671661
|
0.00001
|
NM_182916.3(TRNT1):c.1010del (p.Thr337fs)
|
rs772805677
|
0.00001
|
NM_182916.3(TRNT1):c.1017T>C (p.Ser339=)
|
rs1325737127
|
0.00001
|
NM_182916.3(TRNT1):c.1025C>T (p.Pro342Leu)
|
rs1307103374
|
0.00001
|
NM_182916.3(TRNT1):c.1035C>T (p.Pro345=)
|
rs199673739
|
0.00001
|
NM_182916.3(TRNT1):c.1054G>C (p.Asp352His)
|
rs1170870898
|
0.00001
|
NM_182916.3(TRNT1):c.1056+12C>G
|
rs376137909
|
0.00001
|
NM_182916.3(TRNT1):c.105C>T (p.Pro35=)
|
rs368274081
|
0.00001
|
NM_182916.3(TRNT1):c.1073C>G (p.Ala358Gly)
|
rs746690923
|
0.00001
|
NM_182916.3(TRNT1):c.1112A>G (p.Glu371Gly)
|
rs1179943378
|
0.00001
|
NM_182916.3(TRNT1):c.1130A>T (p.Glu377Val)
|
rs1050894893
|
0.00001
|
NM_182916.3(TRNT1):c.1144T>C (p.Ser382Pro)
|
rs866447898
|
0.00001
|
NM_182916.3(TRNT1):c.1155A>G (p.Pro385=)
|
rs779471673
|
0.00001
|
NM_182916.3(TRNT1):c.1235G>A (p.Arg412Gln)
|
rs761145683
|
0.00001
|
NM_182916.3(TRNT1):c.1236A>G (p.Arg412=)
|
rs1006625149
|
0.00001
|
NM_182916.3(TRNT1):c.1289A>T (p.Tyr430Phe)
|
rs774429750
|
0.00001
|
NM_182916.3(TRNT1):c.1296G>A (p.Lys432=)
|
rs1014393756
|
0.00001
|
NM_182916.3(TRNT1):c.1305A>C (p.Ter435Tyr)
|
rs1312301408
|
0.00001
|
NM_182916.3(TRNT1):c.145A>G (p.Thr49Ala)
|
rs1704830773
|
0.00001
|
NM_182916.3(TRNT1):c.149-16T>C
|
rs766739333
|
0.00001
|
NM_182916.3(TRNT1):c.149-9T>C
|
rs1705382741
|
0.00001
|
NM_182916.3(TRNT1):c.170A>G (p.His57Arg)
|
rs1488255780
|
0.00001
|
NM_182916.3(TRNT1):c.172G>A (p.Glu58Lys)
|
rs768028459
|
0.00001
|
NM_182916.3(TRNT1):c.1A>G (p.Met1Val)
|
rs779568831
|
0.00001
|
NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA (p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer)
|
rs746154279
|
0.00001
|
NM_182916.3(TRNT1):c.251C>G (p.Ala84Gly)
|
rs976462533
|
0.00001
|
NM_182916.3(TRNT1):c.262C>G (p.Gln88Glu)
|
rs1439134079
|
0.00001
|
NM_182916.3(TRNT1):c.27C>T (p.His9=)
|
rs776254990
|
0.00001
|
NM_182916.3(TRNT1):c.284C>T (p.Ser95Leu)
|
rs1287896952
|
0.00001
|
NM_182916.3(TRNT1):c.285G>A (p.Ser95=)
|
rs768744806
|
0.00001
|
NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp)
|
rs759826831
|
0.00001
|
NM_182916.3(TRNT1):c.297G>A (p.Arg99=)
|
rs1239457572
|
0.00001
|
NM_182916.3(TRNT1):c.298A>G (p.Met100Val)
|
rs996280968
|
0.00001
|
NM_182916.3(TRNT1):c.31C>G (p.Pro11Ala)
|
rs769556416
|
0.00001
|
NM_182916.3(TRNT1):c.320A>G (p.Lys107Arg)
|
rs764696586
|
0.00001
|
NM_182916.3(TRNT1):c.322C>G (p.His108Asp)
|
rs1159782126
|
0.00001
|
NM_182916.3(TRNT1):c.33_46del (p.Leu13fs)
|
rs763685455
|
0.00001
|
NM_182916.3(TRNT1):c.342+11A>G
|
rs779037398
|
0.00001
|
NM_182916.3(TRNT1):c.342+12G>T
|
rs1202757381
|
0.00001
|
NM_182916.3(TRNT1):c.342+9A>G
|
rs1235151154
|
0.00001
|
NM_182916.3(TRNT1):c.376C>T (p.Arg126Trp)
|
rs780385153
|
0.00001
|
NM_182916.3(TRNT1):c.38T>C (p.Leu13Pro)
|
rs762748487
|
0.00001
|
NM_182916.3(TRNT1):c.435G>A (p.Gln145=)
|
rs753701052
|
0.00001
|
NM_182916.3(TRNT1):c.442dup (p.Ala148fs)
|
rs1410048027
|
0.00001
|
NM_182916.3(TRNT1):c.449G>A (p.Arg150His)
|
rs1012537748
|
0.00001
|
NM_182916.3(TRNT1):c.45T>C (p.Arg15=)
|
rs759180902
|
0.00001
|
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile)
|
rs606231290
|
0.00001
|
NM_182916.3(TRNT1):c.481+20C>T
|
rs575404057
|
0.00001
|
NM_182916.3(TRNT1):c.482-14T>C
|
rs1352587455
|
0.00001
|
NM_182916.3(TRNT1):c.482-20C>T
|
rs773153767
|
0.00001
|
NM_182916.3(TRNT1):c.493A>G (p.Thr165Ala)
|
rs754369247
|
0.00001
|
NM_182916.3(TRNT1):c.4C>T (p.Leu2=)
|
rs559472880
|
0.00001
|
NM_182916.3(TRNT1):c.505T>C (p.Tyr169His)
|
rs1705867660
|
0.00001
|
NM_182916.3(TRNT1):c.557A>T (p.His186Leu)
|
rs1433500811
|
0.00001
|
NM_182916.3(TRNT1):c.609-18G>A
|
rs758866961
|
0.00001
|
NM_182916.3(TRNT1):c.609-26T>C
|
rs876661299
|
0.00001
|
NM_182916.3(TRNT1):c.622_623del (p.Ile208fs)
|
rs1259648157
|
0.00001
|
NM_182916.3(TRNT1):c.638G>C (p.Gly213Ala)
|
rs745817126
|
0.00001
|
NM_182916.3(TRNT1):c.716G>C (p.Trp239Ser)
|
rs753464075
|
0.00001
|
NM_182916.3(TRNT1):c.748C>G (p.His250Asp)
|
rs1453297459
|
0.00001
|
NM_182916.3(TRNT1):c.74A>C (p.Gln25Pro)
|
rs764391872
|
0.00001
|
NM_182916.3(TRNT1):c.750T>C (p.His250=)
|
rs996651581
|
0.00001
|
NM_182916.3(TRNT1):c.763A>G (p.Ile255Val)
|
rs776889080
|
0.00001
|
NM_182916.3(TRNT1):c.781C>A (p.Leu261Ile)
|
rs116700675
|
0.00001
|
NM_182916.3(TRNT1):c.808C>T (p.Pro270Ser)
|
rs776704386
|
0.00001
|
NM_182916.3(TRNT1):c.818C>G (p.Ala273Gly)
|
rs1489444334
|
0.00001
|
NM_182916.3(TRNT1):c.833T>G (p.Phe278Cys)
|
rs1424196039
|
0.00001
|
NM_182916.3(TRNT1):c.886T>G (p.Leu296Val)
|
rs374592904
|
0.00001
|
NM_182916.3(TRNT1):c.933G>A (p.Leu311=)
|
rs1575066937
|
0.00001
|
NM_182916.3(TRNT1):c.93G>A (p.Lys31=)
|
rs141005872
|
0.00001
|
NM_182916.3(TRNT1):c.946G>A (p.Ala316Thr)
|
rs753967295
|
0.00001
|
NC_000003.11:g.(?_3170725)_(3189838_?)del
|
|
|
NC_000003.11:g.(?_3170725)_(3189838_?)dup
|
|
|
NC_000003.11:g.(?_3179743)_(3189406_?)del
|
|
|
NC_000003.11:g.(?_3186248)_(3189838_?)del
|
|
|
NC_000003.12:g.(?_3129021)_(3148174_?)dup
|
|
|
NC_012920.1:m.8969G>A
|
rs794726857
|
|
NM_000032.5(ALAS2):c.-15-1829T>C
|
|
|
NM_000032.5(ALAS2):c.-15-2188A>G
|
|
|
NM_000032.5(ALAS2):c.-16+6A>G
|
rs1935989193
|
|
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp)
|
rs1935687757
|
|
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser)
|
rs137852300
|
|
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr)
|
rs137852307
|
|
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys)
|
rs137852305
|
|
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys)
|
rs760790600
|
|
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys)
|
rs137852311
|
|
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)
|
rs1935671225
|
|
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn)
|
rs137852299
|
|
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
|
rs1602244633
|
|
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)
|
rs199826743
|
|
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp)
|
rs137852309
|
|
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)
|
rs2146715075
|
|
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly)
|
rs137852306
|
|
NM_000032.5(ALAS2):c.231C>A (p.Leu77=)
|
rs760900782
|
|
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn)
|
rs137852308
|
|
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr)
|
rs137852308
|
|
NM_000032.5(ALAS2):c.488G>A (p.Arg163His)
|
rs2146722839
|
|
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu)
|
rs137852301
|
|
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser)
|
rs1557248142
|
|
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val)
|
rs28935484
|
|
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His)
|
rs137852310
|
|
NM_000032.5(ALAS2):c.741C>T (p.His247=)
|
rs1057515971
|
|
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser)
|
rs137852302
|
|
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)
|
rs1569078754
|
|
NM_001040436.2(YARS2):c.-31A>G
|
rs557243101
|
|
NM_001040436.3(YARS2):c.*377G>A
|
rs1955646004
|
|
NM_001040436.3(YARS2):c.*406C>T
|
rs145618550
|
|
NM_001040436.3(YARS2):c.*62G>A
|
rs527443669
|
|
NM_001040436.3(YARS2):c.1104-16dup
|
rs761612441
|
|
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
|
|
|
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly)
|
rs587777215
|
|
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp)
|
rs587777213
|
|
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg)
|
rs1955656296
|
|
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)
|
rs267607180
|
|
NM_001040436.3(YARS2):c.30C>T (p.Ser10=)
|
rs886049305
|
|
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met)
|
rs886049304
|
|
NM_001040436.3(YARS2):c.359dup (p.Asp121fs)
|
rs797045077
|
|
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp)
|
rs11539445
|
|
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr)
|
rs772348768
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
|
|
|
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
|
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)
|
rs80356713
|
|
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)
|
rs1057518042
|
|
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)
|
rs80356714
|
|
NM_001271696.3(ABCB7):c.168+69C>G
|
rs1039123
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
|
|
|
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)
|
rs515726147
|
|
NM_001271696.3(ABCB7):c.944+3A>G
|
rs2081385144
|
|
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del)
|
rs869312659
|
|
NM_007194.2(CHEK2):c.-200C>T
|
rs551244874
|
|
NM_012062.5(DNM1L):c.*393A>C
|
rs77298476
|
|
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr)
|
rs1891344853
|
|
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln)
|
rs869312752
|
|
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala)
|
rs1891515868
|
|
NM_017875.4(SLC25A38):c.*212T>G
|
rs72867427
|
|
NM_017875.4(SLC25A38):c.*548G>A
|
rs531997173
|
|
NM_017875.4(SLC25A38):c.*642del
|
rs34288981
|
|
NM_017875.4(SLC25A38):c.*718G>A
|
rs2041842608
|
|
NM_017875.4(SLC25A38):c.-15C>A
|
rs1373209338
|
|
NM_017875.4(SLC25A38):c.-219T>C
|
rs886058469
|
|
NM_017875.4(SLC25A38):c.-273G>A
|
rs184769974
|
|
NM_017875.4(SLC25A38):c.-39G>C
|
rs375182491
|
|
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys)
|
rs866266558
|
|
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter)
|
rs2125577893
|
|
NM_017875.4(SLC25A38):c.207_214del (p.Met70fs)
|
rs2125578591
|
|
NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs)
|
rs2125578633
|
|
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter)
|
rs2125578710
|
|
NM_017875.4(SLC25A38):c.276+1G>A
|
rs2125578753
|
|
NM_017875.4(SLC25A38):c.276+1G>T
|
rs2125578753
|
|
NM_017875.4(SLC25A38):c.277-1G>A
|
rs869312029
|
|
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn)
|
rs762067787
|
|
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu)
|
rs2125579714
|
|
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)
|
rs869320719
|
|
NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer)
|
rs2125579746
|
|
NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs)
|
rs1301033567
|
|
NM_017875.4(SLC25A38):c.362del (p.Pro121fs)
|
rs2125579866
|
|
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg)
|
rs2125579946
|
|
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)
|
rs1293528130
|
|
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His)
|
rs2041767822
|
|
NM_017875.4(SLC25A38):c.409dup (p.Ala137fs)
|
rs2041767936
|
|
NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs)
|
rs2125580030
|
|
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn)
|
rs2041768572
|
|
NM_017875.4(SLC25A38):c.457-1G>T
|
rs1448237170
|
|
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg)
|
rs772425489
|
|
NM_017875.4(SLC25A38):c.475del (p.Glu159fs)
|
rs2041773742
|
|
NM_017875.4(SLC25A38):c.480dup (p.Ile161fs)
|
rs2125580393
|
|
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=)
|
rs2041775190
|
|
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His)
|
rs2125580560
|
|
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg)
|
rs2125580580
|
|
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)
|
rs886058471
|
|
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)
|
rs2125580600
|
|
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn)
|
rs146864395
|
|
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)
|
rs146864395
|
|
NM_017875.4(SLC25A38):c.626-2A>T
|
rs2125582750
|
|
NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs)
|
rs781372292
|
|
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs)
|
rs1575247302
|
|
NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs)
|
rs2125582823
|
|
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro)
|
rs2125582841
|
|
NM_017875.4(SLC25A38):c.70-2A>C
|
rs1233124208
|
|
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)
|
rs121918332
|
|
NM_017875.4(SLC25A38):c.792+5G>C
|
rs2125582986
|
|
NM_017875.4(SLC25A38):c.793-1G>C
|
|
|
NM_017875.4(SLC25A38):c.809dup (p.Phe271fs)
|
rs2125584589
|
|
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly)
|
rs147431446
|
|
NM_017875.4(SLC25A38):c.858del (p.Ala287fs)
|
rs2125584640
|
|
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
|
|
|
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter)
|
rs1156987118
|
|
NM_025215.6(PUS1):c.-151G>A
|
rs1890481878
|
|
NM_025215.6(PUS1):c.-424C>T
|
rs1890465624
|
|
NM_025215.6(PUS1):c.1065G>A (p.Pro355=)
|
rs147555676
|
|
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
|
|
|
NM_025215.6(PUS1):c.107_122dup (p.Cys42fs)
|
|
|
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg)
|
rs561744467
|
|
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter)
|
rs779193823
|
|
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val)
|
rs200292016
|
|
NM_025215.6(PUS1):c.1237-2A>G
|
|
|
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
|
|
|
NM_025215.6(PUS1):c.178del (p.Glu60fs)
|
|
|
NM_025215.6(PUS1):c.190C>T (p.His64Tyr)
|
rs770669291
|
|
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
|
|
|
NM_025215.6(PUS1):c.423C>A (p.Arg141=)
|
rs371752870
|
|
NM_025215.6(PUS1):c.442-1G>T
|
|
|
NM_025215.6(PUS1):c.454dup (p.Ala152fs)
|
rs1555268564
|
|
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter)
|
rs895175332
|
|
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
|
|
|
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
|
|
|
NM_025215.6(PUS1):c.517del (p.His173fs)
|
|
|
NM_025215.6(PUS1):c.545-1G>A
|
|
|
NM_025215.6(PUS1):c.545-5C>A
|
rs376656565
|
|
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter)
|
rs104894372
|
|
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
|
|
|
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
|
|
|
NM_025215.6(PUS1):c.737A>G (p.His246Arg)
|
rs1891063731
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
|
|
|
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
|
|
|
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
|
|
|
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
|
|
|
NM_025215.6(PUS1):c.929del (p.Pro310fs)
|
|
|
NM_025215.6(PUS1):c.937G>A (p.Val313Met)
|
rs140088613
|
|
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter)
|
rs587776963
|
|
NM_182916.3(TRNT1):c.*2del (p.Ter435=)
|
rs2126038625
|
|
NM_182916.3(TRNT1):c.1010C>A (p.Thr337Lys)
|
rs1706134057
|
|
NM_182916.3(TRNT1):c.1012_1013del (p.Thr337_Asp338insTer)
|
|
|
NM_182916.3(TRNT1):c.1013A>G (p.Asp338Gly)
|
|
|
NM_182916.3(TRNT1):c.1013_1016del (p.Asp338fs)
|
|
|
NM_182916.3(TRNT1):c.1013_1016dup (p.Ser339delinsArgTer)
|
|
|
NM_182916.3(TRNT1):c.1021G>A (p.Asp341Asn)
|
rs2126037069
|
|
NM_182916.3(TRNT1):c.1023C>T (p.Asp341=)
|
|
|
NM_182916.3(TRNT1):c.1027T>C (p.Leu343=)
|
|
|
NM_182916.3(TRNT1):c.1034C>T (p.Pro345Leu)
|
|
|
NM_182916.3(TRNT1):c.1038_1041dup (p.Asp348fs)
|
rs1706137764
|
|
NM_182916.3(TRNT1):c.1043A>G (p.Asp348Gly)
|
rs2126037130
|
|
NM_182916.3(TRNT1):c.1047C>T (p.Phe349=)
|
|
|
NM_182916.3(TRNT1):c.1051A>G (p.Ile351Val)
|
|
|
NM_182916.3(TRNT1):c.1052T>A (p.Ile351Lys)
|
rs2126037168
|
|
NM_182916.3(TRNT1):c.1053_1054insT (p.Asp352Ter)
|
rs2126037181
|
|
NM_182916.3(TRNT1):c.1055_1056+5del
|
rs770760147
|
|
NM_182916.3(TRNT1):c.1056+13T>G
|
|
|
NM_182916.3(TRNT1):c.1056+14A>T
|
|
|
NM_182916.3(TRNT1):c.1056+1G>A
|
rs369179242
|
|
NM_182916.3(TRNT1):c.1056+1G>T
|
|
|
NM_182916.3(TRNT1):c.1056+3A>C
|
|
|
NM_182916.3(TRNT1):c.1056+4_1056+7dup
|
rs759496973
|
|
NM_182916.3(TRNT1):c.1056+6T>C
|
|
|
NM_182916.3(TRNT1):c.1056+6TA[2]
|
rs1706140312
|
|
NM_182916.3(TRNT1):c.1057-16T>G
|
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
NM_182916.3(TRNT1):c.1057-7C>T
|
rs368078167
|
|
NM_182916.3(TRNT1):c.1057-8A>G
|
|
|
NM_182916.3(TRNT1):c.1068T>C (p.Pro356=)
|
|
|
NM_182916.3(TRNT1):c.106G>A (p.Glu36Lys)
|
rs1480255948
|
|
NM_182916.3(TRNT1):c.1078A>G (p.Thr360Ala)
|
|
|
NM_182916.3(TRNT1):c.1078A>T (p.Thr360Ser)
|
|
|
NM_182916.3(TRNT1):c.107A>G (p.Glu36Gly)
|
rs138682354
|
|
NM_182916.3(TRNT1):c.1082G>A (p.Arg361His)
|
rs527881651
|
|
NM_182916.3(TRNT1):c.1082G>T (p.Arg361Leu)
|
rs527881651
|
|
NM_182916.3(TRNT1):c.1088G>C (p.Cys363Ser)
|
rs773206803
|
|
NM_182916.3(TRNT1):c.1107A>G (p.Gln369=)
|
|
|
NM_182916.3(TRNT1):c.1110A>G (p.Gly370=)
|
rs1706172038
|
|
NM_182916.3(TRNT1):c.1125A>G (p.Leu375=)
|
rs2126038121
|
|
NM_182916.3(TRNT1):c.112C>G (p.Gln38Glu)
|
rs1704825513
|
|
NM_182916.3(TRNT1):c.1135C>G (p.Gln379Glu)
|
|
|
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter)
|
rs606231291
|
|
NM_182916.3(TRNT1):c.1146C>T (p.Ser382=)
|
|
|
NM_182916.3(TRNT1):c.114G>C (p.Gln38His)
|
rs2126002222
|
|
NM_182916.3(TRNT1):c.1150_1157del (p.Pro384fs)
|
|
|
NM_182916.3(TRNT1):c.1163dup (p.Ser389fs)
|
|
|
NM_182916.3(TRNT1):c.1167T>C (p.Ser389=)
|
|
|
NM_182916.3(TRNT1):c.1178T>A (p.Ile393Asn)
|
|
|
NM_182916.3(TRNT1):c.1178_1184del (p.Ile393fs)
|
rs2126038227
|
|
NM_182916.3(TRNT1):c.1182A>T (p.Arg394Ser)
|
rs2126038235
|
|
NM_182916.3(TRNT1):c.1183A>G (p.Lys395Glu)
|
rs2126038239
|
|
NM_182916.3(TRNT1):c.1187T>C (p.Val396Ala)
|
|
|
NM_182916.3(TRNT1):c.118C>G (p.Leu40Val)
|
rs908960894
|
|
NM_182916.3(TRNT1):c.1190del (p.Gly397fs)
|
rs2126038249
|
|
NM_182916.3(TRNT1):c.1205A>G (p.Lys402Arg)
|
|
|
NM_182916.3(TRNT1):c.1205_1206dup (p.Glu403fs)
|
rs1449106096
|
|
NM_182916.3(TRNT1):c.120T>G (p.Leu40=)
|
|
|
NM_182916.3(TRNT1):c.1211T>C (p.Ile404Thr)
|
rs1706181879
|
|
NM_182916.3(TRNT1):c.1213G>A (p.Gly405Arg)
|
|
|
NM_182916.3(TRNT1):c.1213G>C (p.Gly405Arg)
|
|
|
NM_182916.3(TRNT1):c.1219C>T (p.Leu407=)
|
rs1315353435
|
|
NM_182916.3(TRNT1):c.1223T>C (p.Leu408Ser)
|
|
|
NM_182916.3(TRNT1):c.1224ACA[3] (p.Gln410dup)
|
rs2126038336
|
|
NM_182916.3(TRNT1):c.1225C>G (p.Gln409Glu)
|
|
|
NM_182916.3(TRNT1):c.1228C>T (p.Gln410Ter)
|
|
|
NM_182916.3(TRNT1):c.1234C>T (p.Arg412Ter)
|
|
|
NM_182916.3(TRNT1):c.1237G>A (p.Glu413Lys)
|
|
|
NM_182916.3(TRNT1):c.1240C>G (p.Gln414Glu)
|
rs764603508
|
|
NM_182916.3(TRNT1):c.1247A>G (p.Lys416Arg)
|
rs2126038415
|
|
NM_182916.3(TRNT1):c.1249A>G (p.Lys417Glu)
|
rs751047325
|
|
NM_182916.3(TRNT1):c.1252_1253insT (p.Ser418fs)
|
rs1706186945
|
|
NM_182916.3(TRNT1):c.1252del (p.Ser418fs)
|
rs876661298
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
NM_182916.3(TRNT1):c.1260C>A (p.Tyr420Ter)
|
|
|
NM_182916.3(TRNT1):c.1269A>C (p.Glu423Asp)
|
rs777580759
|
|
NM_182916.3(TRNT1):c.1274A>G (p.Asp425Gly)
|
rs146766859
|
|
NM_182916.3(TRNT1):c.1274A>T (p.Asp425Val)
|
rs146766859
|
|
NM_182916.3(TRNT1):c.1276G>C (p.Glu426Gln)
|
|
|
NM_182916.3(TRNT1):c.1281T>C (p.Leu427=)
|
rs2126038514
|
|
NM_182916.3(TRNT1):c.1281_1283dup (p.Leu428_Ser429insLeu)
|
|
|
NM_182916.3(TRNT1):c.1283T>C (p.Leu428Pro)
|
rs2126038533
|
|
NM_182916.3(TRNT1):c.1284G>T (p.Leu428=)
|
rs2126038544
|
|
NM_182916.3(TRNT1):c.1284_1287dup (p.Tyr430fs)
|
rs1559232394
|
|
NM_182916.3(TRNT1):c.1286G>T (p.Ser429Ile)
|
rs2126038555
|
|
NM_182916.3(TRNT1):c.128_130del (p.Glu43del)
|
rs876661297
|
|
NM_182916.3(TRNT1):c.1290_1291insTTTAA (p.Ile431fs)
|
|
|
NM_182916.3(TRNT1):c.1291A>G (p.Ile431Val)
|
rs142642881
|
|
NM_182916.3(TRNT1):c.1295AGA[1] (p.Lys433del)
|
rs1575068543
|
|
NM_182916.3(TRNT1):c.1296G>T (p.Lys432Asn)
|
|
|
NM_182916.3(TRNT1):c.12C>T (p.Cys4=)
|
|
|
NM_182916.3(TRNT1):c.1300A>T (p.Thr434Ser)
|
|
|
NM_182916.3(TRNT1):c.140_141delinsTC (p.Ser47Ile)
|
|
|
NM_182916.3(TRNT1):c.148+12G>A
|
rs1342768108
|
|
NM_182916.3(TRNT1):c.148+15T>C
|
rs2126002342
|
|
NM_182916.3(TRNT1):c.148+20_148+29del
|
|
|
NM_182916.3(TRNT1):c.148+3G>A
|
rs1575035691
|
|
NM_182916.3(TRNT1):c.148+7G>A
|
|
|
NM_182916.3(TRNT1):c.149-10C>G
|
rs1247543296
|
|
NM_182916.3(TRNT1):c.149-6_149-2del
|
|
|
NM_182916.3(TRNT1):c.151T>A (p.Leu51Ile)
|
|
|
NM_182916.3(TRNT1):c.151_160del (p.Leu51fs)
|
|
|
NM_182916.3(TRNT1):c.155T>C (p.Phe52Ser)
|
rs1705383984
|
|
NM_182916.3(TRNT1):c.15G>A (p.Leu5=)
|
|
|
NM_182916.3(TRNT1):c.165G>T (p.Glu55Asp)
|
|
|
NM_182916.3(TRNT1):c.168T>C (p.Asn56=)
|
|
|
NM_182916.3(TRNT1):c.171C>A (p.His57Gln)
|
rs760080058
|
|
NM_182916.3(TRNT1):c.176_182del (p.Glu58_Leu59insTer)
|
|
|
NM_182916.3(TRNT1):c.179G>C (p.Arg60Thr)
|
|
|
NM_182916.3(TRNT1):c.179G>T (p.Arg60Ile)
|
rs1283386278
|
|
NM_182916.3(TRNT1):c.182T>G (p.Ile61Arg)
|
rs2126017364
|
|
NM_182916.3(TRNT1):c.185C>G (p.Ala62Gly)
|
rs1430870230
|
|
NM_182916.3(TRNT1):c.198G>A (p.Val66=)
|
rs2126017403
|
|
NM_182916.3(TRNT1):c.208T>G (p.Leu70Val)
|
rs1705387323
|
|
NM_182916.3(TRNT1):c.212A>G (p.Asn71Ser)
|
|
|
NM_182916.3(TRNT1):c.215G>C (p.Gly72Ala)
|
rs1267775202
|
|
NM_182916.3(TRNT1):c.222G>A (p.Lys74=)
|
|
|
NM_182916.3(TRNT1):c.233T>C (p.Ile78Thr)
|
rs1553553306
|
|
NM_182916.3(TRNT1):c.234A>G (p.Ile78Met)
|
rs2126017445
|
|
NM_182916.3(TRNT1):c.240del (p.Phe80fs)
|
rs1297648080
|
|
NM_182916.3(TRNT1):c.250G>C (p.Ala84Pro)
|
rs781277263
|
|
NM_182916.3(TRNT1):c.261T>C (p.Thr87=)
|
|
|
NM_182916.3(TRNT1):c.263_266del (p.Gln88fs)
|
rs772722561
|
|
NM_182916.3(TRNT1):c.264A>G (p.Gln88=)
|
rs1705392118
|
|
NM_182916.3(TRNT1):c.270G>A (p.Lys90=)
|
|
|
NM_182916.3(TRNT1):c.277T>A (p.Phe93Ile)
|
rs2126017533
|
|
NM_182916.3(TRNT1):c.27C>G (p.His9Gln)
|
|
|
NM_182916.3(TRNT1):c.282G>T (p.Gln94His)
|
rs527886866
|
|
NM_182916.3(TRNT1):c.285G>T (p.Ser95=)
|
|
|
NM_182916.3(TRNT1):c.288T>C (p.Ala96=)
|
rs2126017561
|
|
NM_182916.3(TRNT1):c.293T>G (p.Ile98Ser)
|
|
|
NM_182916.3(TRNT1):c.296G>A (p.Arg99Gln)
|
rs1392135239
|
|
NM_182916.3(TRNT1):c.31C>T (p.Pro11Ser)
|
|
|
NM_182916.3(TRNT1):c.324_330del (p.His108fs)
|
rs776199133
|
|
NM_182916.3(TRNT1):c.335C>G (p.Thr112Ser)
|
|
|
NM_182916.3(TRNT1):c.339C>T (p.Ala113=)
|
rs2126017687
|
|
NM_182916.3(TRNT1):c.342+10A>C
|
rs771121037
|
|
NM_182916.3(TRNT1):c.342+17A>T
|
rs1705398977
|
|
NM_182916.3(TRNT1):c.342+1G>T
|
|
|
NM_182916.3(TRNT1):c.342+20G>C
|
|
|
NM_182916.3(TRNT1):c.343-16A>G
|
|
|
NM_182916.3(TRNT1):c.343-20C>G
|
|
|
NM_182916.3(TRNT1):c.343-69_343-8del
|
|
|
NM_182916.3(TRNT1):c.348T>G (p.His116Gln)
|
rs1705578519
|
|
NM_182916.3(TRNT1):c.361G>A (p.Glu121Lys)
|
rs2126022941
|
|
NM_182916.3(TRNT1):c.368C>G (p.Thr123Ser)
|
rs1278148249
|
|
NM_182916.3(TRNT1):c.36G>A (p.Val12=)
|
rs1704814779
|
|
NM_182916.3(TRNT1):c.373del (p.Leu125fs)
|
rs1553554007
|
|
NM_182916.3(TRNT1):c.384T>C (p.Asp128=)
|
rs2126023030
|
|
NM_182916.3(TRNT1):c.389C>G (p.Thr130Ser)
|
rs1705581594
|
|
NM_182916.3(TRNT1):c.391A>G (p.Thr131Ala)
|
|
|
NM_182916.3(TRNT1):c.395A>C (p.Asp132Ala)
|
rs773948765
|
|
NM_182916.3(TRNT1):c.398G>T (p.Gly133Val)
|
rs759253937
|
|
NM_182916.3(TRNT1):c.403C>T (p.His135Tyr)
|
rs752478909
|
|
NM_182916.3(TRNT1):c.410A>C (p.Glu137Ala)
|
rs1705583571
|
|
NM_182916.3(TRNT1):c.412G>A (p.Val138Ile)
|
rs907649149
|
|
NM_182916.3(TRNT1):c.414A>T (p.Val138=)
|
|
|
NM_182916.3(TRNT1):c.422C>T (p.Thr141Ile)
|
rs1276258304
|
|
NM_182916.3(TRNT1):c.428_431del (p.Asp143fs)
|
rs1401711549
|
|
NM_182916.3(TRNT1):c.433C>T (p.Gln145Ter)
|
|
|
NM_182916.3(TRNT1):c.435G>T (p.Gln145His)
|
|
|
NM_182916.3(TRNT1):c.443C>G (p.Ala148Gly)
|
|
|
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)
|
rs761516140
|
|
NM_182916.3(TRNT1):c.444G>A (p.Ala148=)
|
|
|
NM_182916.3(TRNT1):c.460A>C (p.Thr154Pro)
|
rs1233701431
|
|
NM_182916.3(TRNT1):c.462T>C (p.Thr154=)
|
rs528296646
|
|
NM_182916.3(TRNT1):c.472A>G (p.Met158Val)
|
rs771781629
|
|
NM_182916.3(TRNT1):c.478T>C (p.Leu160=)
|
|
|
NM_182916.3(TRNT1):c.481+15T>C
|
|
|
NM_182916.3(TRNT1):c.481+19dup
|
|
|
NM_182916.3(TRNT1):c.481+4A>G
|
|
|
NM_182916.3(TRNT1):c.481+5T>C
|
rs761643814
|
|
NM_182916.3(TRNT1):c.482-4A>G
|
|
|
NM_182916.3(TRNT1):c.482-5A>G
|
rs879788444
|
|
NM_182916.3(TRNT1):c.482-7T>C
|
|
|
NM_182916.3(TRNT1):c.482-8A>G
|
rs1375077738
|
|
NM_182916.3(TRNT1):c.482-9A>C
|
|
|
NM_182916.3(TRNT1):c.484T>C (p.Phe162Leu)
|
rs965848707
|
|
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser)
|
rs606231289
|
|
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)
|
rs754883449
|
|
NM_182916.3(TRNT1):c.499T>C (p.Phe167Leu)
|
rs2126031119
|
|
NM_182916.3(TRNT1):c.501dup (p.Asp168Ter)
|
rs1445182754
|
|
NM_182916.3(TRNT1):c.502G>C (p.Asp168His)
|
rs746543080
|
|
NM_182916.3(TRNT1):c.509T>C (p.Phe170Ser)
|
|
|
NM_182916.3(TRNT1):c.510T>A (p.Phe170Leu)
|
rs371733557
|
|
NM_182916.3(TRNT1):c.512dup (p.Asn171fs)
|
|
|
NM_182916.3(TRNT1):c.522A>G (p.Glu174=)
|
|
|
NM_182916.3(TRNT1):c.530A>G (p.Lys177Arg)
|
rs1705869749
|
|
NM_182916.3(TRNT1):c.542_545del (p.Val181fs)
|
rs769317780
|
|
NM_182916.3(TRNT1):c.544_545insAA (p.Arg182fs)
|
|
|
NM_182916.3(TRNT1):c.545G>A (p.Arg182Lys)
|
|
|
NM_182916.3(TRNT1):c.545G>C (p.Arg182Thr)
|
|
|
NM_182916.3(TRNT1):c.54T>C (p.Ser18=)
|
|
|
NM_182916.3(TRNT1):c.550G>A (p.Val184Ile)
|
rs1705871121
|
|
NM_182916.3(TRNT1):c.555A>C (p.Gly185=)
|
|
|
NM_182916.3(TRNT1):c.556C>T (p.His186Tyr)
|
|
|
NM_182916.3(TRNT1):c.567G>A (p.Gln189=)
|
|
|
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile)
|
rs606231287
|
|
NM_182916.3(TRNT1):c.569_570del (p.Arg190fs)
|
|
|
NM_182916.3(TRNT1):c.578A>G (p.Glu193Gly)
|
|
|
NM_182916.3(TRNT1):c.581A>G (p.Asp194Gly)
|
rs754316396
|
|
NM_182916.3(TRNT1):c.586C>G (p.Leu196Val)
|
|
|
NM_182916.3(TRNT1):c.592A>C (p.Ile198Leu)
|
rs757780903
|
|
NM_182916.3(TRNT1):c.598A>C (p.Arg200=)
|
|
|
NM_182916.3(TRNT1):c.59T>C (p.Leu20Pro)
|
rs1704816332
|
|
NM_182916.3(TRNT1):c.5_12del (p.Leu2fs)
|
|
|
NM_182916.3(TRNT1):c.608+1G>A
|
rs529290186
|
|
NM_182916.3(TRNT1):c.608+6A>G
|
rs747803738
|
|
NM_182916.3(TRNT1):c.608+6A>T
|
rs747803738
|
|
NM_182916.3(TRNT1):c.608+7A>G
|
rs2126031354
|
|
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys)
|
rs750995691
|
|
NM_182916.3(TRNT1):c.609-4G>C
|
|
|
NM_182916.3(TRNT1):c.609-7C>T
|
|
|
NM_182916.3(TRNT1):c.609G>A (p.Arg203=)
|
rs1706023403
|
|
NM_182916.3(TRNT1):c.60G>A (p.Leu20=)
|
rs2126002041
|
|
NM_182916.3(TRNT1):c.60G>T (p.Leu20=)
|
rs2126002041
|
|
NM_182916.3(TRNT1):c.611T>G (p.Phe204Cys)
|
rs1706023542
|
|
NM_182916.3(TRNT1):c.624T>A (p.Ile208=)
|
rs367981406
|
|
NM_182916.3(TRNT1):c.624T>G (p.Ile208Met)
|
rs367981406
|
|
NM_182916.3(TRNT1):c.631A>C (p.Lys211Gln)
|
rs372027157
|
|
NM_182916.3(TRNT1):c.632A>G (p.Lys211Arg)
|
|
|
NM_182916.3(TRNT1):c.638G>T (p.Gly213Val)
|
rs745817126
|
|
NM_182916.3(TRNT1):c.63C>T (p.Cys21=)
|
rs1307913419
|
|
NM_182916.3(TRNT1):c.640G>A (p.Asp214Asn)
|
|
|
NM_182916.3(TRNT1):c.647A>G (p.Asp216Gly)
|
rs2126034760
|
|
NM_182916.3(TRNT1):c.649C>T (p.Pro217Ser)
|
rs775586520
|
|
NM_182916.3(TRNT1):c.64C>T (p.Leu22Phe)
|
rs965646183
|
|
NM_182916.3(TRNT1):c.667del (p.Ile223fs)
|
|
|
NM_182916.3(TRNT1):c.669T>G (p.Ile223Met)
|
rs2126034798
|
|
NM_182916.3(TRNT1):c.671C>T (p.Ala224Val)
|
rs2126034803
|
|
NM_182916.3(TRNT1):c.679G>T (p.Ala227Ser)
|
rs2126034812
|
|
NM_182916.3(TRNT1):c.67_68delinsGT (p.Pro23Val)
|
rs1575035403
|
|
NM_182916.3(TRNT1):c.67_68delinsTT (p.Pro23Leu)
|
|
|
NM_182916.3(TRNT1):c.686G>A (p.Gly229Asp)
|
rs773514953
|
|
NM_182916.3(TRNT1):c.686G>C (p.Gly229Ala)
|
rs773514953
|
|
NM_182916.3(TRNT1):c.689_693del (p.Leu230fs)
|
|
|
NM_182916.3(TRNT1):c.692C>G (p.Ala231Gly)
|
rs1428349978
|
|
NM_182916.3(TRNT1):c.693T>A (p.Ala231=)
|
rs2126034848
|
|
NM_182916.3(TRNT1):c.700T>G (p.Ser234Ala)
|
rs763684893
|
|
NM_182916.3(TRNT1):c.710G>A (p.Arg237Lys)
|
rs2126034891
|
|
NM_182916.3(TRNT1):c.711del (p.Ile238fs)
|
rs2126034894
|
|
NM_182916.3(TRNT1):c.724C>G (p.Leu242Val)
|
rs1022234414
|
|
NM_182916.3(TRNT1):c.733dup (p.Ile245fs)
|
rs1706032688
|
|
NM_182916.3(TRNT1):c.736C>T (p.Leu246Phe)
|
rs1575064652
|
|
NM_182916.3(TRNT1):c.739G>T (p.Val247Phe)
|
rs1456113852
|
|
NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)
|
|
|
NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter)
|
rs1415152805
|
|
NM_182916.3(TRNT1):c.742G>A (p.Gly248Ser)
|
|
|
NM_182916.3(TRNT1):c.747C>T (p.Asn249=)
|
rs2126034966
|
|
NM_182916.3(TRNT1):c.74A>G (p.Gln25Arg)
|
|
|
NM_182916.3(TRNT1):c.756T>C (p.Asn252=)
|
rs2126034983
|
|
NM_182916.3(TRNT1):c.75G>T (p.Gln25His)
|
rs754086954
|
|
NM_182916.3(TRNT1):c.766C>A (p.His256Asn)
|
|
|
NM_182916.3(TRNT1):c.768C>T (p.His256=)
|
rs1411916026
|
|
NM_182916.3(TRNT1):c.772A>G (p.Ile258Val)
|
rs769964961
|
|
NM_182916.3(TRNT1):c.774C>G (p.Ile258Met)
|
|
|
NM_182916.3(TRNT1):c.774C>T (p.Ile258=)
|
|
|
NM_182916.3(TRNT1):c.776A>G (p.Tyr259Cys)
|
|
|
NM_182916.3(TRNT1):c.778del (p.Asp260fs)
|
rs1433432612
|
|
NM_182916.3(TRNT1):c.779A>G (p.Asp260Gly)
|
rs1706037095
|
|
NM_182916.3(TRNT1):c.791C>G (p.Ala264Gly)
|
|
|
NM_182916.3(TRNT1):c.795T>C (p.Pro265=)
|
rs1174186377
|
|
NM_182916.3(TRNT1):c.798T>C (p.Tyr266=)
|
|
|
NM_182916.3(TRNT1):c.79C>G (p.Leu27Val)
|
|
|
NM_182916.3(TRNT1):c.79C>T (p.Leu27=)
|
|
|
NM_182916.3(TRNT1):c.800T>C (p.Ile267Thr)
|
|
|
NM_182916.3(TRNT1):c.802+15T>C
|
|
|
NM_182916.3(TRNT1):c.802+16A>C
|
|
|
NM_182916.3(TRNT1):c.802+16A>G
|
rs755030575
|
|
NM_182916.3(TRNT1):c.802+18dup
|
|
|
NM_182916.3(TRNT1):c.802+19G>A
|
|
|
NM_182916.3(TRNT1):c.802+19G>C
|
rs2126035131
|
|
NM_182916.3(TRNT1):c.802+20T>C
|
|
|
NM_182916.3(TRNT1):c.802+20T>G
|
rs2126035135
|
|
NM_182916.3(TRNT1):c.802+22_802+25del
|
rs758901089
|
|
NM_182916.3(TRNT1):c.802+5G>C
|
|
|
NM_182916.3(TRNT1):c.802+6A>G
|
rs1706039327
|
|
NM_182916.3(TRNT1):c.803-10G>A
|
|
|
NM_182916.3(TRNT1):c.803-10G>T
|
rs776053995
|
|
NM_182916.3(TRNT1):c.803-14T>C
|
|
|
NM_182916.3(TRNT1):c.803-17T>C
|
|
|
NM_182916.3(TRNT1):c.809del (p.Pro270fs)
|
rs2126036604
|
|
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu)
|
rs527331900
|
|
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr)
|
rs1553555777
|
|
NM_182916.3(TRNT1):c.815A>T (p.Asn272Ile)
|
rs2126036638
|
|
NM_182916.3(TRNT1):c.816T>C (p.Asn272=)
|
rs2126036642
|
|
NM_182916.3(TRNT1):c.81A>T (p.Leu27=)
|
|
|
NM_182916.3(TRNT1):c.820A>C (p.Ser274Arg)
|
rs1446360172
|
|
NM_182916.3(TRNT1):c.824T>C (p.Leu275Ser)
|
|
|
NM_182916.3(TRNT1):c.837C>T (p.Asp279=)
|
|
|
NM_182916.3(TRNT1):c.843C>T (p.Val281=)
|
|
|
NM_182916.3(TRNT1):c.847A>T (p.Lys283Ter)
|
rs749437475
|
|
NM_182916.3(TRNT1):c.851dup (p.Asn284fs)
|
rs2126036713
|
|
NM_182916.3(TRNT1):c.852T>C (p.Asn284=)
|
|
|
NM_182916.3(TRNT1):c.854T>C (p.Val285Ala)
|
|
|
NM_182916.3(TRNT1):c.856G>A (p.Asp286Asn)
|
|
|
NM_182916.3(TRNT1):c.857A>G (p.Asp286Gly)
|
|
|
NM_182916.3(TRNT1):c.865del (p.Ser289fs)
|
rs1575066836
|
|
NM_182916.3(TRNT1):c.876A>G (p.Pro292=)
|
|
|
NM_182916.3(TRNT1):c.883C>G (p.Leu295Val)
|
rs2126036773
|
|
NM_182916.3(TRNT1):c.886T>C (p.Leu296=)
|
|
|
NM_182916.3(TRNT1):c.894A>G (p.Ser298=)
|
rs772847879
|
|
NM_182916.3(TRNT1):c.895T>A (p.Leu299Ile)
|
|
|
NM_182916.3(TRNT1):c.898T>G (p.Phe300Val)
|
rs1706126293
|
|
NM_182916.3(TRNT1):c.906A>G (p.Val302=)
|
|
|
NM_182916.3(TRNT1):c.907C>G (p.Gln303Glu)
|
rs1706127064
|
|
NM_182916.3(TRNT1):c.909A>C (p.Gln303His)
|
|
|
NM_182916.3(TRNT1):c.912T>C (p.Asp304=)
|
rs2126036829
|
|
NM_182916.3(TRNT1):c.925T>G (p.Leu309Val)
|
rs985101465
|
|
NM_182916.3(TRNT1):c.928G>T (p.Asp310Tyr)
|
rs2126036850
|
|
NM_182916.3(TRNT1):c.931T>C (p.Leu311=)
|
rs2126036862
|
|
NM_182916.3(TRNT1):c.939G>T (p.Leu313Phe)
|
|
|
NM_182916.3(TRNT1):c.943A>G (p.Ile315Val)
|
|
|
NM_182916.3(TRNT1):c.947_948inv (p.Ala316Val)
|
|
|
NM_182916.3(TRNT1):c.948A>C (p.Ala316=)
|
rs1705805
|
|
NM_182916.3(TRNT1):c.948_949delinsGG (p.Lys317Glu)
|
rs1706130150
|
|
NM_182916.3(TRNT1):c.968G>A (p.Gly323Asp)
|
rs2126036942
|
|
NM_182916.3(TRNT1):c.970T>G (p.Leu324Val)
|
|
|
NM_182916.3(TRNT1):c.971T>G (p.Leu324Ter)
|
|
|
NM_182916.3(TRNT1):c.974_977del (p.Leu324_Phe325insTer)
|
rs1249830698
|
|
NM_182916.3(TRNT1):c.989G>A (p.Arg330Lys)
|
|
|
NM_182916.3(TRNT1):c.993A>G (p.Lys331=)
|
|
|
NM_182916.3(TRNT1):c.993A>T (p.Lys331Asn)
|
rs1706133107
|
|
NM_182916.3(TRNT1):c.994G>C (p.Asp332His)
|
rs1553555848
|
|
NM_182916.3(TRNT1):c.996_999del (p.Asp332fs)
|
rs769331677
|
|