ClinVar Miner

List of variants in gene ALDOB studied for Hereditary fructosuria

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 456
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HGVS dbSNP gnomAD frequency
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
NM_000035.4(ALDOB):c.828T>C (p.Ser276=)
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp) rs1831103567
NM_000035.4(ALDOB):c.840C>T (p.Ala280=)
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs) rs2118342944
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro) rs2118342839
NM_000035.4(ALDOB):c.855T>C (p.Asn285=)
NM_000035.4(ALDOB):c.858T>G (p.Ala286=)
NM_000035.4(ALDOB):c.865_867del (p.Leu289del) rs118204425
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.870C>T (p.Cys290=)
NM_000035.4(ALDOB):c.87G>A (p.Gly29=)
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) rs1249398093
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.891A>G (p.Lys297=)
NM_000035.4(ALDOB):c.912G>A (p.Arg304=) rs1588170091
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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