NM_000035.4(ALDOB):c.*1151A>G
|
rs491979
|
0.46095
|
NM_000035.4(ALDOB):c.800-76T>C
|
rs506571
|
0.41593
|
NM_000035.4(ALDOB):c.*69C>T
|
rs4577
|
0.41145
|
NM_000035.4(ALDOB):c.540+84A>C
|
rs1929480
|
0.25349
|
NM_000035.4(ALDOB):c.*505C>A
|
rs17772845
|
0.07844
|
NM_000035.4(ALDOB):c.*897G>A
|
rs17772839
|
0.07843
|
NM_000035.4(ALDOB):c.*552T>A
|
rs41308902
|
0.07841
|
NM_000035.4(ALDOB):c.*612A>G
|
rs41296049
|
0.07833
|
NM_000035.4(ALDOB):c.*206C>A
|
rs17772869
|
0.07315
|
NM_000035.4(ALDOB):c.*122G>A
|
rs41310087
|
0.05383
|
NM_000035.4(ALDOB):c.-10-209A>G
|
rs113443424
|
0.03318
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
NM_000035.4(ALDOB):c.*268T>C
|
rs142431256
|
0.00648
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_000035.4(ALDOB):c.*189C>T
|
rs185986022
|
0.00287
|
NM_000035.4(ALDOB):c.*1119C>T
|
rs41296051
|
0.00284
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_000035.4(ALDOB):c.*1003A>G
|
rs80292759
|
0.00174
|
NM_000035.4(ALDOB):c.*152A>G
|
rs192418526
|
0.00156
|
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=)
|
rs138866018
|
0.00151
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
NM_000035.4(ALDOB):c.324+8C>G
|
rs118168553
|
0.00103
|
NM_000035.4(ALDOB):c.*752C>G
|
rs555999328
|
0.00098
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000035.4(ALDOB):c.325-19T>G
|
rs200798661
|
0.00066
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00058
|
NM_000035.4(ALDOB):c.799+11C>T
|
rs182245025
|
0.00051
|
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)
|
rs3739721
|
0.00046
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000035.4(ALDOB):c.*849T>C
|
rs181650438
|
0.00024
|
NM_000035.4(ALDOB):c.334G>A (p.Gly112Arg)
|
rs373330514
|
0.00021
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00018
|
NM_000035.4(ALDOB):c.*286C>T
|
rs886063291
|
0.00016
|
NM_000035.4(ALDOB):c.*898T>C
|
rs886063287
|
0.00013
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000035.4(ALDOB):c.*567C>T
|
rs540272117
|
0.00012
|
NM_000035.4(ALDOB):c.*819A>C
|
rs780375040
|
0.00011
|
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)
|
rs566549564
|
0.00011
|
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
|
rs201397971
|
0.00011
|
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys)
|
rs190464963
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000035.4(ALDOB):c.*568G>A
|
rs978202633
|
0.00009
|
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys)
|
rs772473508
|
0.00009
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg)
|
rs200382297
|
0.00008
|
NM_000035.4(ALDOB):c.590A>G (p.His197Arg)
|
rs368140282
|
0.00008
|
NM_000035.4(ALDOB):c.*503T>C
|
rs954756064
|
0.00007
|
NM_000035.4(ALDOB):c.991C>T (p.Arg331Trp)
|
rs150407710
|
0.00007
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000035.4(ALDOB):c.226G>A (p.Gly76Ser)
|
rs759204107
|
0.00006
|
NM_000035.4(ALDOB):c.501C>T (p.Asn167=)
|
rs186836225
|
0.00006
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
NM_000035.4(ALDOB):c.207C>T (p.Ser69=)
|
rs779129856
|
0.00004
|
NM_000035.4(ALDOB):c.379+1G>T
|
rs138121153
|
0.00004
|
NM_000035.4(ALDOB):c.401G>A (p.Arg134His)
|
rs145252200
|
0.00004
|
NM_000035.4(ALDOB):c.468C>T (p.Asp156=)
|
rs778013891
|
0.00004
|
NM_000035.4(ALDOB):c.*209C>T
|
rs1038724691
|
0.00003
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000035.4(ALDOB):c.128G>A (p.Arg43His)
|
rs780442649
|
0.00003
|
NM_000035.4(ALDOB):c.507C>T (p.Asn169=)
|
rs746351347
|
0.00003
|
NM_000035.4(ALDOB):c.517C>T (p.Arg173Cys)
|
rs778058461
|
0.00003
|
NM_000035.4(ALDOB):c.522C>T (p.Tyr174=)
|
rs752902486
|
0.00003
|
NM_000035.4(ALDOB):c.1068G>A (p.Ser356=)
|
rs377173333
|
0.00002
|
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
|
rs761063847
|
0.00002
|
NM_000035.4(ALDOB):c.465C>T (p.Ala155=)
|
rs569981883
|
0.00002
|
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr)
|
rs770158282
|
0.00002
|
NM_000035.4(ALDOB):c.690G>A (p.Lys230=)
|
rs376978142
|
0.00002
|
NM_000035.4(ALDOB):c.780T>C (p.Thr260=)
|
rs965153604
|
0.00002
|
NM_000035.4(ALDOB):c.800-2A>C
|
rs199965465
|
0.00002
|
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)
|
rs555935217
|
0.00002
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
NM_000035.4(ALDOB):c.966G>A (p.Glu322=)
|
rs149166711
|
0.00002
|
NM_000035.4(ALDOB):c.*516T>A
|
rs1402343211
|
0.00001
|
NM_000035.4(ALDOB):c.-1C>T
|
rs560091436
|
0.00001
|
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)
|
rs546735701
|
0.00001
|
NM_000035.4(ALDOB):c.1026G>A (p.Gln342=)
|
rs995263904
|
0.00001
|
NM_000035.4(ALDOB):c.1035C>T (p.His345=)
|
rs761508514
|
0.00001
|
NM_000035.4(ALDOB):c.105A>G (p.Glu35=)
|
rs770470240
|
0.00001
|
NM_000035.4(ALDOB):c.1062C>G (p.Thr354=)
|
rs779217157
|
0.00001
|
NM_000035.4(ALDOB):c.1065G>A (p.Gln355=)
|
rs1218895360
|
0.00001
|
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)
|
rs900220679
|
0.00001
|
NM_000035.4(ALDOB):c.113-9C>T
|
rs1831193811
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000035.4(ALDOB):c.147G>A (p.Val49=)
|
rs777794664
|
0.00001
|
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln)
|
rs141267935
|
0.00001
|
NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)
|
rs780352710
|
0.00001
|
NM_000035.4(ALDOB):c.201C>T (p.Asp67=)
|
rs1201355810
|
0.00001
|
NM_000035.4(ALDOB):c.222C>T (p.Ile74=)
|
rs754735910
|
0.00001
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
NM_000035.4(ALDOB):c.285A>G (p.Arg95=)
|
rs773510589
|
0.00001
|
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
|
rs1270747182
|
0.00001
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
NM_000035.4(ALDOB):c.318A>G (p.Gly106=)
|
rs142196987
|
0.00001
|
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu)
|
rs763058812
|
0.00001
|
NM_000035.4(ALDOB):c.396A>G (p.Ser132=)
|
rs751964153
|
0.00001
|
NM_000035.4(ALDOB):c.399G>A (p.Glu133=)
|
rs1436764381
|
0.00001
|
NM_000035.4(ALDOB):c.489T>A (p.Ala163=)
|
rs578048957
|
0.00001
|
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr)
|
rs755134927
|
0.00001
|
NM_000035.4(ALDOB):c.537G>A (p.Gln179=)
|
rs775053176
|
0.00001
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00001
|
NM_000035.4(ALDOB):c.540+9C>A
|
rs371263581
|
0.00001
|
NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg)
|
rs777601413
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)
|
rs748157721
|
0.00001
|
NM_000035.4(ALDOB):c.654T>C (p.Asn218=)
|
rs780943027
|
0.00001
|
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys)
|
rs777324536
|
0.00001
|
NM_000035.4(ALDOB):c.708T>C (p.Ala236=)
|
rs761151751
|
0.00001
|
NM_000035.4(ALDOB):c.750T>A (p.Ala250=)
|
rs150644101
|
0.00001
|
NM_000035.4(ALDOB):c.813G>A (p.Leu271=)
|
rs1168325070
|
0.00001
|
NM_000035.4(ALDOB):c.873T>A (p.Pro291=)
|
rs765247994
|
0.00001
|
NM_000035.4(ALDOB):c.933G>A (p.Leu311=)
|
rs541062220
|
0.00001
|
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro)
|
rs1831207922
|
0.00001
|
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val)
|
rs755508323
|
0.00001
|
NM_000035.4(ALDOB):c.996C>T (p.Ala332=)
|
rs1334639976
|
0.00001
|
NC_000009.11:g.(104187910_104188836)_(104193180_104197990)del
|
|
|
NC_000009.11:g.(?_104184081)_(104184196_?)del
|
|
|
NC_000009.11:g.(?_104188817)_(104193189_?)del
|
|
|
NC_000009.11:g.(?_104188827)_(104193169_?)del
|
|
|
NC_000009.12:g.(?_101424833)_(101437751_?)del
|
|
|
NC_000009.12:g.(?_101426493)_(101437751_?)del
|
|
|
NC_000009.12:g.101435743_101435818del
|
rs2118377686
|
|
NM_000035.4(ALDOB):c.*145A>G
|
rs552865615
|
|
NM_000035.4(ALDOB):c.*150del
|
rs200345626
|
|
NM_000035.4(ALDOB):c.*26C>T
|
rs1831050459
|
|
NM_000035.4(ALDOB):c.*289C>G
|
rs886063290
|
|
NM_000035.4(ALDOB):c.*683T>C
|
rs1831039987
|
|
NM_000035.4(ALDOB):c.*714A>G
|
rs886063289
|
|
NM_000035.4(ALDOB):c.*729G>C
|
rs1831039466
|
|
NM_000035.4(ALDOB):c.*802A>G
|
rs886063288
|
|
NM_000035.4(ALDOB):c.1000-12T>C
|
|
|
NM_000035.4(ALDOB):c.1000-13A>G
|
|
|
NM_000035.4(ALDOB):c.1000-14T>C
|
|
|
NM_000035.4(ALDOB):c.1000-17T>C
|
|
|
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
|
rs2118333206
|
|
NM_000035.4(ALDOB):c.1000-20C>G
|
|
|
NM_000035.4(ALDOB):c.1000-6T>C
|
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
|
rs1831052831
|
|
NM_000035.4(ALDOB):c.1008C>T (p.Cys336=)
|
|
|
NM_000035.4(ALDOB):c.102T>C (p.Asp34=)
|
|
|
NM_000035.4(ALDOB):c.1038G>A (p.Thr346=)
|
|
|
NM_000035.4(ALDOB):c.1038G>T (p.Thr346=)
|
|
|
NM_000035.4(ALDOB):c.1044T>C (p.Ser348=)
|
rs2118333009
|
|
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
|
rs2118332973
|
|
NM_000035.4(ALDOB):c.1047T>C (p.Ser349=)
|
|
|
NM_000035.4(ALDOB):c.1059C>T (p.Ser353=)
|
|
|
NM_000035.4(ALDOB):c.1062C>T (p.Thr354=)
|
|
|
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter)
|
rs1554702065
|
|
NM_000035.4(ALDOB):c.1071C>A (p.Leu357=)
|
|
|
NM_000035.4(ALDOB):c.1089C>G (p.Thr363=)
|
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.112+10A>G
|
rs2118366036
|
|
NM_000035.4(ALDOB):c.112+12A>G
|
|
|
NM_000035.4(ALDOB):c.112+17G>A
|
|
|
NM_000035.4(ALDOB):c.112+17G>T
|
|
|
NM_000035.4(ALDOB):c.112+1G>A
|
rs2118366070
|
|
NM_000035.4(ALDOB):c.112+1del
|
rs1057516534
|
|
NM_000035.4(ALDOB):c.112+20T>A
|
|
|
NM_000035.4(ALDOB):c.112+7G>A
|
rs1831206891
|
|
NM_000035.4(ALDOB):c.112+9A>G
|
|
|
NM_000035.4(ALDOB):c.113-10C>T
|
|
|
NM_000035.4(ALDOB):c.113-13C>T
|
|
|
NM_000035.4(ALDOB):c.113-17T>C
|
|
|
NM_000035.4(ALDOB):c.113-1G>A
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1G>C
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.113-2A>G
|
|
|
NM_000035.4(ALDOB):c.113-4A>G
|
|
|
NM_000035.4(ALDOB):c.113-7A>C
|
rs1588172399
|
|
NM_000035.4(ALDOB):c.113-7A>G
|
|
|
NM_000035.4(ALDOB):c.113-8C>A
|
rs2118362981
|
|
NM_000035.4(ALDOB):c.114T>A (p.Gly38=)
|
|
|
NM_000035.4(ALDOB):c.114T>C (p.Gly38=)
|
|
|
NM_000035.4(ALDOB):c.129C>T (p.Arg43=)
|
|
|
NM_000035.4(ALDOB):c.136del (p.Arg46fs)
|
|
|
NM_000035.4(ALDOB):c.137G>A (p.Arg46Lys)
|
rs199920124
|
|
NM_000035.4(ALDOB):c.146del (p.Val49fs)
|
rs2118362762
|
|
NM_000035.4(ALDOB):c.149_155dup (p.Glu53fs)
|
rs2118362726
|
|
NM_000035.4(ALDOB):c.157G>T (p.Glu53Ter)
|
|
|
NM_000035.4(ALDOB):c.162G>A (p.Glu54=)
|
|
|
NM_000035.4(ALDOB):c.165C>T (p.Asn55=)
|
|
|
NM_000035.4(ALDOB):c.168C>T (p.Arg56=)
|
|
|
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
|
rs370761101
|
|
NM_000035.4(ALDOB):c.171G>A (p.Arg57=)
|
rs1297759351
|
|
NM_000035.4(ALDOB):c.171G>C (p.Arg57=)
|
|
|
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)
|
rs1831192129
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
NM_000035.4(ALDOB):c.186C>T (p.Ile62=)
|
rs1588172329
|
|
NM_000035.4(ALDOB):c.18A>T (p.Pro6=)
|
rs1344537476
|
|
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)
|
|
|
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
|
|
|
NM_000035.4(ALDOB):c.204T>C (p.Ser68=)
|
rs1831191276
|
|
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)
|
rs1831191030
|
|
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)
|
rs781023784
|
|
NM_000035.4(ALDOB):c.225G>A (p.Gly75=)
|
|
|
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val)
|
rs764779161
|
|
NM_000035.4(ALDOB):c.227del (p.Gly76fs)
|
|
|
NM_000035.4(ALDOB):c.227dup (p.Val77fs)
|
rs2118362340
|
|
NM_000035.4(ALDOB):c.231G>A (p.Val77=)
|
|
|
NM_000035.4(ALDOB):c.231G>T (p.Val77=)
|
rs2118362315
|
|
NM_000035.4(ALDOB):c.235del (p.Leu79fs)
|
|
|
NM_000035.4(ALDOB):c.249C>T (p.Thr83=)
|
rs1831190387
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.252C>G (p.Leu84=)
|
rs1831190272
|
|
NM_000035.4(ALDOB):c.252C>T (p.Leu84=)
|
|
|
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter)
|
rs761063847
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.264C>T (p.Asp88=)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)
|
|
|
NM_000035.4(ALDOB):c.277C>T (p.Leu93=)
|
rs2118362136
|
|
NM_000035.4(ALDOB):c.279G>C (p.Leu93=)
|
|
|
NM_000035.4(ALDOB):c.27C>G (p.Thr9=)
|
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000035.4(ALDOB):c.287del (p.Asn96fs)
|
rs1554702890
|
|
NM_000035.4(ALDOB):c.294C>G (p.Leu98=)
|
rs2118362024
|
|
NM_000035.4(ALDOB):c.294C>T (p.Leu98=)
|
|
|
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)
|
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
|
rs1376128325
|
|
NM_000035.4(ALDOB):c.312G>T (p.Val104=)
|
rs1831188786
|
|
NM_000035.4(ALDOB):c.315G>A (p.Val105=)
|
rs561489667
|
|
NM_000035.4(ALDOB):c.324+16C>T
|
|
|
NM_000035.4(ALDOB):c.324+18C>G
|
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.324+20C>G
|
|
|
NM_000035.4(ALDOB):c.324+2T>A
|
rs1057516379
|
|
NM_000035.4(ALDOB):c.324+7A>C
|
rs1452396378
|
|
NM_000035.4(ALDOB):c.324+9C>G
|
|
|
NM_000035.4(ALDOB):c.324+9C>T
|
rs761258365
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.325-15T>C
|
|
|
NM_000035.4(ALDOB):c.325-1G>A
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.325-1G>C
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.325-1G>T
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.325-9T>C
|
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
NM_000035.4(ALDOB):c.336A>C (p.Gly112=)
|
rs1248064943
|
|
NM_000035.4(ALDOB):c.33G>A (p.Glu11=)
|
rs544090689
|
|
NM_000035.4(ALDOB):c.341C>T (p.Ala114Val)
|
|
|
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
|
rs2118358456
|
|
NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe)
|
|
|
NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)
|
rs190631679
|
|
NM_000035.4(ALDOB):c.351A>G (p.Ala117=)
|
rs2118358644
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.360del (p.Asn120fs)
|
rs2118358565
|
|
NM_000035.4(ALDOB):c.369C>A (p.Thr123=)
|
rs775336756
|
|
NM_000035.4(ALDOB):c.372C>G (p.Thr124=)
|
|
|
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)
|
rs886063292
|
|
NM_000035.4(ALDOB):c.379+12G>T
|
|
|
NM_000035.4(ALDOB):c.379+14C>G
|
|
|
NM_000035.4(ALDOB):c.379+18T>C
|
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.379+9A>T
|
rs778567515
|
|
NM_000035.4(ALDOB):c.37A>C (p.Lys13Gln)
|
|
|
NM_000035.4(ALDOB):c.380-12T>C
|
|
|
NM_000035.4(ALDOB):c.380-17T>C
|
|
|
NM_000035.4(ALDOB):c.380-19T>C
|
|
|
NM_000035.4(ALDOB):c.380-1G>A
|
rs1554702666
|
|
NM_000035.4(ALDOB):c.380-2A>G
|
rs1300461861
|
|
NM_000035.4(ALDOB):c.380-4G>T
|
rs747876844
|
|
NM_000035.4(ALDOB):c.380-9G>T
|
|
|
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser)
|
rs10123355
|
|
NM_000035.4(ALDOB):c.402C>T (p.Arg134=)
|
|
|
NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)
|
rs2118355570
|
|
NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)
|
|
|
NM_000035.4(ALDOB):c.420del (p.Asp141fs)
|
rs1057517421
|
|
NM_000035.4(ALDOB):c.423T>C (p.Asp141=)
|
rs2118355518
|
|
NM_000035.4(ALDOB):c.426T>C (p.Gly142=)
|
rs774491597
|
|
NM_000035.4(ALDOB):c.427del (p.Val143fs)
|
rs2118355498
|
|
NM_000035.4(ALDOB):c.435T>C (p.Phe145=)
|
rs2118355452
|
|
NM_000035.4(ALDOB):c.438G>C (p.Gly146=)
|
|
|
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)
|
rs1831150965
|
|
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
|
rs1831209087
|
|
NM_000035.4(ALDOB):c.441G>A (p.Lys147=)
|
rs770794608
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
NM_000035.4(ALDOB):c.450T>A (p.Ala150=)
|
|
|
NM_000035.4(ALDOB):c.457_458del (p.Arg153fs)
|
|
|
NM_000035.4(ALDOB):c.462T>C (p.Ile154=)
|
rs2118355269
|
|
NM_000035.4(ALDOB):c.465C>A (p.Ala155=)
|
rs569981883
|
|
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)
|
rs752810910
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
NM_000035.4(ALDOB):c.472T>A (p.Cys158Ser)
|
rs1386846765
|
|
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)
|
rs1179941004
|
|
NM_000035.4(ALDOB):c.474T>C (p.Cys158=)
|
rs1179941004
|
|
NM_000035.4(ALDOB):c.477A>G (p.Pro159=)
|
|
|
NM_000035.4(ALDOB):c.480C>T (p.Ser160=)
|
rs2118355075
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.505A>G (p.Asn169Asp)
|
rs1460923575
|
|
NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)
|
|
|
NM_000035.4(ALDOB):c.510C>T (p.Ala170=)
|
|
|
NM_000035.4(ALDOB):c.511C>T (p.Leu171=)
|
rs2118354804
|
|
NM_000035.4(ALDOB):c.51A>G (p.Ser17=)
|
rs2118366331
|
|
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)
|
rs752902486
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
NM_000035.4(ALDOB):c.529A>G (p.Ile177Val)
|
rs139442303
|
|
NM_000035.4(ALDOB):c.531C>T (p.Ile177=)
|
rs760339672
|
|
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
|
rs2118354587
|
|
NM_000035.4(ALDOB):c.538C>T (p.Gln180Ter)
|
|
|
NM_000035.4(ALDOB):c.539del (p.Gln180fs)
|
|
|
NM_000035.4(ALDOB):c.540+11T>C
|
|
|
NM_000035.4(ALDOB):c.540+15C>T
|
|
|
NM_000035.4(ALDOB):c.540+16C>T
|
|
|
NM_000035.4(ALDOB):c.540+19G>A
|
|
|
NM_000035.4(ALDOB):c.540+1G>C
|
rs2118354551
|
|
NM_000035.4(ALDOB):c.541-153_800-175del
|
|
|
NM_000035.4(ALDOB):c.541-277_651del
|
|
|
NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT
|
|
|
NM_000035.4(ALDOB):c.541-2A>G
|
|
|
NM_000035.4(ALDOB):c.541-5T>C
|
rs533131687
|
|
NM_000035.4(ALDOB):c.546A>G (p.Gly182=)
|
|
|
NM_000035.4(ALDOB):c.546del (p.Leu183fs)
|
rs1057517091
|
|
NM_000035.4(ALDOB):c.547C>T (p.Leu183=)
|
rs1831133410
|
|
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)
|
rs387906226
|
|
NM_000035.4(ALDOB):c.549G>T (p.Leu183=)
|
rs1564077875
|
|
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
|
rs2118350958
|
|
NM_000035.4(ALDOB):c.556A>G (p.Ile186Val)
|
|
|
NM_000035.4(ALDOB):c.567A>G (p.Pro189=)
|
rs2118350882
|
|
NM_000035.4(ALDOB):c.591T>C (p.His197=)
|
|
|
NM_000035.4(ALDOB):c.594C>T (p.Asp198=)
|
|
|
NM_000035.4(ALDOB):c.595C>T (p.Leu199=)
|
rs1831132321
|
|
NM_000035.4(ALDOB):c.603C>T (p.His201=)
|
|
|
NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)
|
|
|
NM_000035.4(ALDOB):c.606C>T (p.Cys202=)
|
|
|
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)
|
rs868392830
|
|
NM_000035.4(ALDOB):c.60C>T (p.Ala20=)
|
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)
|
rs2118366288
|
|
NM_000035.4(ALDOB):c.621G>A (p.Glu207=)
|
rs765681180
|
|
NM_000035.4(ALDOB):c.624+19G>A
|
|
|
NM_000035.4(ALDOB):c.624+1G>A
|
|
|
NM_000035.4(ALDOB):c.624+1G>C
|
|
|
NM_000035.4(ALDOB):c.624+20G>C
|
|
|
NM_000035.4(ALDOB):c.624+9T>G
|
|
|
NM_000035.4(ALDOB):c.625-10T>C
|
rs2118347030
|
|
NM_000035.4(ALDOB):c.625-15C>T
|
|
|
NM_000035.4(ALDOB):c.625-1G>A
|
rs1564077542
|
|
NM_000035.4(ALDOB):c.625-20T>A
|
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.625-9G>T
|
rs1564077543
|
|
NM_000035.4(ALDOB):c.625-9_625-7dup
|
|
|
NM_000035.4(ALDOB):c.627C>G (p.Val209=)
|
|
|
NM_000035.4(ALDOB):c.627C>T (p.Val209=)
|
|
|
NM_000035.4(ALDOB):c.628C>T (p.Leu210=)
|
|
|
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
|
rs2118366284
|
|
NM_000035.4(ALDOB):c.642C>A (p.Tyr214Ter)
|
|
|
NM_000035.4(ALDOB):c.645G>A (p.Lys215=)
|
|
|
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)
|
rs1554702442
|
|
NM_000035.4(ALDOB):c.669C>T (p.Tyr223=)
|
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.675G>A (p.Glu225=)
|
|
|
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
|
rs2118346537
|
|
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn)
|
rs371219301
|
|
NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu)
|
rs1478306331
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000035.4(ALDOB):c.687A>C (p.Leu229=)
|
|
|
NM_000035.4(ALDOB):c.687A>G (p.Leu229=)
|
|
|
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
|
rs2118346335
|
|
NM_000035.4(ALDOB):c.6C>T (p.Ala2=)
|
|
|
NM_000035.4(ALDOB):c.705T>G (p.Thr235=)
|
|
|
NM_000035.4(ALDOB):c.712dup (p.His238fs)
|
rs1554702425
|
|
NM_000035.4(ALDOB):c.717C>T (p.Ala239=)
|
rs772197524
|
|
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)
|
rs118204426
|
|
NM_000035.4(ALDOB):c.723C>G (p.Thr241=)
|
|
|
NM_000035.4(ALDOB):c.724A>T (p.Lys242Ter)
|
|
|
NM_000035.4(ALDOB):c.72T>C (p.Val24=)
|
|
|
NM_000035.4(ALDOB):c.732T>C (p.Tyr244=)
|
|
|
NM_000035.4(ALDOB):c.733A>G (p.Thr245Ala)
|
rs748031490
|
|
NM_000035.4(ALDOB):c.735T>C (p.Thr245=)
|
|
|
NM_000035.4(ALDOB):c.738A>G (p.Pro246=)
|
rs781139407
|
|
NM_000035.4(ALDOB):c.741A>G (p.Glu247=)
|
|
|
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
|
|
|
NM_000035.4(ALDOB):c.756C>T (p.Ala252=)
|
|
|
NM_000035.4(ALDOB):c.759C>A (p.Thr253=)
|
rs146360505
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
|
rs2118345550
|
|
NM_000035.4(ALDOB):c.76A>T (p.Asn26Tyr)
|
|
|
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)
|
rs764701775
|
|
NM_000035.4(ALDOB):c.771C>T (p.Leu257=)
|
|
|
NM_000035.4(ALDOB):c.774C>T (p.His258=)
|
|
|
NM_000035.4(ALDOB):c.786T>A (p.Pro262=)
|
|
|
NM_000035.4(ALDOB):c.78T>C (p.Asn26=)
|
|
|
NM_000035.4(ALDOB):c.794T>C (p.Val265Ala)
|
|
|
NM_000035.4(ALDOB):c.799+16T>C
|
|
|
NM_000035.4(ALDOB):c.799+17T>C
|
|
|
NM_000035.4(ALDOB):c.799+19T>A
|
|
|
NM_000035.4(ALDOB):c.799+1G>A
|
|
|
NM_000035.4(ALDOB):c.799+20C>G
|
|
|
NM_000035.4(ALDOB):c.799+2T>A
|
rs2118345193
|
|
NM_000035.4(ALDOB):c.799+2T>C
|
|
|
NM_000035.4(ALDOB):c.799+7C>T
|
|
|
NM_000035.4(ALDOB):c.800-10C>G
|
rs375872252
|
|
NM_000035.4(ALDOB):c.800-10C>T
|
|
|
NM_000035.4(ALDOB):c.800-11T>C
|
|
|
NM_000035.4(ALDOB):c.800-12C>A
|
|
|
NM_000035.4(ALDOB):c.800-12C>T
|
|
|
NM_000035.4(ALDOB):c.800-13T>G
|
|
|
NM_000035.4(ALDOB):c.800-15C>T
|
|
|
NM_000035.4(ALDOB):c.800-2A>G
|
|
|
NM_000035.4(ALDOB):c.800-5A>G
|
rs199971480
|
|
NM_000035.4(ALDOB):c.800-6T>C
|
rs763222245
|
|
NM_000035.4(ALDOB):c.800-7C>T
|
|
|
NM_000035.4(ALDOB):c.800-8C>T
|
rs2118343372
|
|
NM_000035.4(ALDOB):c.806_808del (p.Cys269del)
|
rs1159180033
|
|
NM_000035.4(ALDOB):c.812T>C (p.Leu271Ser)
|
rs2118343224
|
|
NM_000035.4(ALDOB):c.812del (p.Leu271fs)
|
rs1554702353
|
|
NM_000035.4(ALDOB):c.819T>C (p.Gly273=)
|
rs778370988
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NM_000035.4(ALDOB):c.828T>C (p.Ser276=)
|
|
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NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
|
rs1831103567
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NM_000035.4(ALDOB):c.840C>T (p.Ala280=)
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NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
|
rs2118342944
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NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
|
rs2118342839
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NM_000035.4(ALDOB):c.855T>C (p.Asn285=)
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NM_000035.4(ALDOB):c.858T>G (p.Ala286=)
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NM_000035.4(ALDOB):c.865_867del (p.Leu289del)
|
rs118204425
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NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
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NM_000035.4(ALDOB):c.870C>T (p.Cys290=)
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NM_000035.4(ALDOB):c.87G>A (p.Gly29=)
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NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
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NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)
|
rs1057517133
|
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NM_000035.4(ALDOB):c.891A>G (p.Lys297=)
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|
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NM_000035.4(ALDOB):c.912G>A (p.Arg304=)
|
rs1588170091
|
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NM_000035.4(ALDOB):c.912G>C (p.Arg304=)
|
rs1588170091
|
|
NM_000035.4(ALDOB):c.915C>G (p.Ala305=)
|
rs1400203483
|
|
NM_000035.4(ALDOB):c.921G>A (p.Gln307=)
|
|
|
NM_000035.4(ALDOB):c.927T>C (p.Ser309=)
|
|
|
NM_000035.4(ALDOB):c.931C>T (p.Leu311=)
|
|
|
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)
|
rs2118342191
|
|
NM_000035.4(ALDOB):c.933G>T (p.Leu311=)
|
|
|
NM_000035.4(ALDOB):c.934G>A (p.Ala312Thr)
|
|
|
NM_000035.4(ALDOB):c.940dup (p.Trp314fs)
|
rs1554702328
|
|
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)
|
rs1554702325
|
|
NM_000035.4(ALDOB):c.948C>A (p.Gly316=)
|
rs2118342090
|
|
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
|
|
|
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
|
rs2118341777
|
|
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)
|
rs1172384674
|
|
NM_000035.4(ALDOB):c.96T>C (p.Ala32=)
|
|
|
NM_000035.4(ALDOB):c.96T>G (p.Ala32=)
|
rs928855259
|
|
NM_000035.4(ALDOB):c.971C>T (p.Thr324Ile)
|
rs2118341906
|
|
NM_000035.4(ALDOB):c.972C>G (p.Thr324=)
|
|
|
NM_000035.4(ALDOB):c.972C>T (p.Thr324=)
|
rs952816406
|
|
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln)
|
rs371526091
|
|
NM_000035.4(ALDOB):c.999+10T>A
|
|
|
NM_000035.4(ALDOB):c.999+10T>C
|
|
|
NM_000035.4(ALDOB):c.999+12C>A
|
|
|
NM_000035.4(ALDOB):c.999+14A>G
|
|
|
NM_000035.4(ALDOB):c.999+18C>T
|
|
|
NM_000035.4(ALDOB):c.999+2T>C
|
|
|
NM_000035.4(ALDOB):c.99A>C (p.Ala33=)
|
rs1322360698
|
|
NM_000035.4:c.-10_624del
|
|
|
NM_000035.4:c.1_624del
|
|
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