NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu)
|
rs334773
|
0.90803
|
NM_182916.3(TRNT1):c.148+38A>G
|
rs334772
|
0.90454
|
NM_182916.3(TRNT1):c.948A>G (p.Ala316=)
|
rs1705805
|
0.73295
|
NM_182916.3(TRNT1):c.1056+11A>G
|
rs1669348
|
0.53660
|
NM_182916.3(TRNT1):c.68= (p.Pro23=)
|
rs334773
|
0.09197
|
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_182916.3(TRNT1):c.231T>C (p.Asp77=)
|
rs114362638
|
0.00321
|
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_182916.3(TRNT1):c.862T>A (p.Phe288Ile)
|
rs147986219
|
0.00071
|
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val)
|
rs149263693
|
0.00069
|
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_182916.3(TRNT1):c.513T>C (p.Asn171=)
|
rs190423145
|
0.00036
|
NM_182916.3(TRNT1):c.343-14G>A
|
rs373630283
|
0.00034
|
NM_182916.3(TRNT1):c.462T>G (p.Thr154=)
|
rs528296646
|
0.00029
|
NM_182916.3(TRNT1):c.148+14A>G
|
rs374743708
|
0.00025
|
NM_182916.3(TRNT1):c.803-6C>T
|
rs183382145
|
0.00024
|
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_182916.3(TRNT1):c.482-3dup
|
rs766154756
|
0.00017
|
NM_182916.3(TRNT1):c.787G>A (p.Val263Met)
|
rs201873697
|
0.00014
|
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_182916.3(TRNT1):c.667A>G (p.Ile223Val)
|
rs376974085
|
0.00011
|
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_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_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.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_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_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_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_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.1079C>T (p.Thr360Ile)
|
rs776480350
|
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
|
|
|
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
|
|