NM_152783.5(D2HGDH):c.292+28T>G
|
rs62191977
|
0.74780
|
NM_152783.5(D2HGDH):c.-99A>G
|
rs7370843
|
0.70817
|
NM_152783.5(D2HGDH):c.1307-24A>G
|
rs6756901
|
0.61160
|
NM_152783.5(D2HGDH):c.685-9T>C
|
rs4234097
|
0.55730
|
NM_152783.5(D2HGDH):c.854-1200C>T
|
rs35386923
|
0.53647
|
NM_152783.5(D2HGDH):c.*449C>T
|
rs4234096
|
0.49853
|
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)
|
rs77940364
|
0.27302
|
NM_152783.5(D2HGDH):c.490+40T>C
|
rs78147778
|
0.27008
|
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)
|
rs1106639
|
0.25945
|
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val)
|
rs1105273
|
0.17904
|
NM_152783.5(D2HGDH):c.*801A>G
|
rs35671465
|
0.16469
|
NM_152783.5(D2HGDH):c.*778C>T
|
rs6746151
|
0.15209
|
NM_152783.5(D2HGDH):c.*254G>A
|
rs6713318
|
0.13504
|
NM_152783.5(D2HGDH):c.*93T>C
|
rs11552660
|
0.10660
|
NM_152783.5(D2HGDH):c.*688G>A
|
rs6716743
|
0.08600
|
NM_002168.4(IDH2):c.996C>T (p.Ser332=)
|
rs61737003
|
0.07655
|
NM_152783.5(D2HGDH):c.*661C>T
|
rs113372064
|
0.06400
|
NM_002168.4(IDH2):c.1050C>T (p.Thr350=)
|
rs11540478
|
0.05301
|
NM_152783.5(D2HGDH):c.-91C>G
|
rs62191976
|
0.04794
|
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=)
|
rs141343442
|
0.03691
|
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=)
|
rs111670322
|
0.02768
|
NM_152783.5(D2HGDH):c.292+9G>A
|
rs148813816
|
0.02496
|
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr)
|
rs144668507
|
0.01790
|
NM_152783.5(D2HGDH):c.293-23A>T
|
rs145731647
|
0.01298
|
NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=)
|
rs143940595
|
0.01280
|
NM_152783.5(D2HGDH):c.*427G>A
|
rs142873084
|
0.01193
|
NM_002168.4(IDH2):c.993G>A (p.Thr331=)
|
rs61737002
|
0.01104
|
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser)
|
rs139321130
|
0.00949
|
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly)
|
rs4675887
|
0.00845
|
NM_002168.4(IDH2):c.429G>C (p.Leu143=)
|
rs144712130
|
0.00824
|
NM_152783.5(D2HGDH):c.*26C>T
|
rs141211991
|
0.00666
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
NM_152783.5(D2HGDH):c.990G>A (p.Pro330=)
|
rs142073267
|
0.00425
|
NM_152783.5(D2HGDH):c.*27C>T
|
rs150707660
|
0.00382
|
NM_152783.5(D2HGDH):c.*87C>T
|
rs546752536
|
0.00378
|
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)
|
rs118053940
|
0.00372
|
NM_002168.4(IDH2):c.207+4G>A
|
rs77995170
|
0.00331
|
NM_002168.4(IDH2):c.1302C>G (p.Thr434=)
|
rs150574164
|
0.00323
|
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=)
|
rs147210645
|
0.00323
|
NM_152783.5(D2HGDH):c.1307-19T>C
|
rs113076082
|
0.00319
|
NM_152783.5(D2HGDH):c.1307-15C>T
|
rs111836685
|
0.00311
|
NM_152783.5(D2HGDH):c.*40C>T
|
rs139456115
|
0.00309
|
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=)
|
rs140096524
|
0.00297
|
NM_002168.4(IDH2):c.939A>G (p.Gly313=)
|
rs16943901
|
0.00280
|
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)
|
rs113782371
|
0.00267
|
NM_002168.4(IDH2):c.327G>A (p.Val109=)
|
rs150943639
|
0.00257
|
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)
|
rs149504235
|
0.00235
|
NM_002168.4(IDH2):c.23T>C (p.Val8Ala)
|
rs369445642
|
0.00231
|
NM_152783.5(D2HGDH):c.*266G>A
|
rs145823152
|
0.00209
|
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
|
rs142473303
|
0.00176
|
NM_002168.4(IDH2):c.782G>A (p.Arg261His)
|
rs118101777
|
0.00163
|
NM_152783.5(D2HGDH):c.*410G>A
|
rs568821876
|
0.00159
|
NM_002168.4(IDH2):c.16C>A (p.Arg6=)
|
rs549177872
|
0.00146
|
NM_152783.5(D2HGDH):c.-83C>T
|
rs560355552
|
0.00145
|
NM_152783.5(D2HGDH):c.*717C>G
|
rs555898820
|
0.00117
|
NM_152783.5(D2HGDH):c.490+16C>T
|
rs375775579
|
0.00116
|
NM_152783.5(D2HGDH):c.491-18C>T
|
rs369380533
|
0.00101
|
NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp)
|
rs146696295
|
0.00094
|
NM_152783.5(D2HGDH):c.-45C>T
|
rs770031585
|
0.00093
|
NM_002168.4(IDH2):c.1081-13C>T
|
rs112703257
|
0.00081
|
NM_152783.5(D2HGDH):c.1140+8G>A
|
rs369135156
|
0.00073
|
NM_152783.5(D2HGDH):c.-92-4C>G
|
rs146482048
|
0.00071
|
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)
|
rs143460342
|
0.00071
|
NM_152783.5(D2HGDH):c.*461C>T
|
rs530527351
|
0.00070
|
NM_002168.4(IDH2):c.648C>T (p.Gly216=)
|
rs61733007
|
0.00069
|
NM_152783.5(D2HGDH):c.997+18_997+19del
|
rs371493676
|
0.00064
|
NM_152783.5(D2HGDH):c.-93+15C>T
|
rs951758262
|
0.00062
|
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe)
|
rs145839736
|
0.00052
|
NM_002168.4(IDH2):c.1038C>T (p.Ala346=)
|
rs190078206
|
0.00049
|
NM_152783.5(D2HGDH):c.*2G>A
|
rs144699251
|
0.00046
|
NM_152783.5(D2HGDH):c.840C>T (p.Asn280=)
|
rs138467167
|
0.00046
|
NM_152783.5(D2HGDH):c.*503C>T
|
rs755235230
|
0.00045
|
NM_152783.5(D2HGDH):c.*194G>A
|
rs537045408
|
0.00044
|
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp)
|
rs149628174
|
0.00038
|
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)
|
rs142816010
|
0.00035
|
NM_152783.5(D2HGDH):c.*462G>A
|
rs978543777
|
0.00030
|
NM_152783.5(D2HGDH):c.*51C>T
|
rs372240356
|
0.00029
|
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile)
|
rs141475702
|
0.00029
|
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)
|
rs201921601
|
0.00027
|
NM_002168.4(IDH2):c.942T>C (p.Asp314=)
|
rs142721369
|
0.00025
|
NM_152783.5(D2HGDH):c.-98T>G
|
rs886055847
|
0.00025
|
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
|
rs142624021
|
0.00025
|
NM_002168.4(IDH2):c.141G>A (p.Ala47=)
|
rs145802942
|
0.00024
|
NM_002168.4(IDH2):c.27C>T (p.Arg9=)
|
rs773877161
|
0.00020
|
NM_152783.5(D2HGDH):c.*284C>T
|
rs148945152
|
0.00020
|
NM_152783.5(D2HGDH):c.1334C>T (p.Thr445Met)
|
rs200103827
|
0.00019
|
NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=)
|
rs201294258
|
0.00019
|
NM_002168.4(IDH2):c.890T>C (p.Val297Ala)
|
rs538460237
|
0.00017
|
NM_152783.5(D2HGDH):c.*537G>A
|
rs369661387
|
0.00017
|
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile)
|
rs140596855
|
0.00016
|
NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys)
|
rs138598929
|
0.00016
|
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)
|
rs377034676
|
0.00016
|
NM_002168.4(IDH2):c.120C>T (p.Ala40=)
|
rs148974231
|
0.00014
|
NM_152783.5(D2HGDH):c.*150C>T
|
rs547925261
|
0.00014
|
NM_152783.5(D2HGDH):c.*542C>T
|
rs1035041997
|
0.00014
|
NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His)
|
rs139611034
|
0.00014
|
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=)
|
rs376268002
|
0.00014
|
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)
|
rs112424377
|
0.00014
|
NM_002168.4(IDH2):c.276T>C (p.Thr92=)
|
rs774212594
|
0.00013
|
NM_002168.4(IDH2):c.967+18del
|
rs767324925
|
0.00013
|
NM_152783.5(D2HGDH):c.*474C>T
|
rs570372209
|
0.00013
|
NM_152783.5(D2HGDH):c.*597C>T
|
rs187157907
|
0.00013
|
NM_152783.5(D2HGDH):c.*334C>T
|
rs934875929
|
0.00012
|
NM_152783.5(D2HGDH):c.93G>T (p.Leu31=)
|
rs375720367
|
0.00012
|
NM_152783.5(D2HGDH):c.997+6G>A
|
rs749247772
|
0.00012
|
NM_002168.4(IDH2):c.1101C>T (p.Asn367=)
|
rs751677526
|
0.00011
|
NM_002168.4(IDH2):c.360G>A (p.Glu120=)
|
rs536071174
|
0.00011
|
NM_002168.4(IDH2):c.75C>T (p.Ala25=)
|
rs754996897
|
0.00011
|
NM_002168.4(IDH2):c.913G>A (p.Val305Met)
|
rs138800371
|
0.00011
|
NM_152783.5(D2HGDH):c.*714G>A
|
rs976477266
|
0.00011
|
NM_152783.5(D2HGDH):c.1328A>G (p.Asn443Ser)
|
rs149519095
|
0.00011
|
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile)
|
rs146408017
|
0.00011
|
NM_152783.5(D2HGDH):c.685-2A>G
|
rs753528947
|
0.00011
|
NM_152783.5(D2HGDH):c.*680G>C
|
rs749772854
|
0.00010
|
NM_152783.5(D2HGDH):c.1306+15G>A
|
rs759068118
|
0.00010
|
NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile)
|
rs375162898
|
0.00010
|
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile)
|
rs143231454
|
0.00010
|
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr)
|
rs139512088
|
0.00009
|
NM_152783.5(D2HGDH):c.*405C>T
|
rs1005668285
|
0.00009
|
NM_152783.5(D2HGDH):c.1306+10G>A
|
rs375156639
|
0.00009
|
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)
|
rs140447217
|
0.00009
|
NM_152783.5(D2HGDH):c.832G>A (p.Ala278Thr)
|
rs148920052
|
0.00009
|
NM_002168.4(IDH2):c.1345C>T (p.Leu449=)
|
rs148745668
|
0.00008
|
NM_152783.5(D2HGDH):c.1242C>T (p.Ile414=)
|
rs758849873
|
0.00008
|
NM_152783.5(D2HGDH):c.1413C>T (p.Ser471=)
|
rs755871797
|
0.00008
|
NM_152783.5(D2HGDH):c.924T>G (p.Ser308=)
|
rs761427826
|
0.00008
|
NM_152783.5(D2HGDH):c.997+18A>G
|
rs763494373
|
0.00008
|
NM_152783.5(D2HGDH):c.*298C>T
|
rs555079079
|
0.00007
|
NM_152783.5(D2HGDH):c.-132C>T
|
rs886055846
|
0.00007
|
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met)
|
rs762019434
|
0.00007
|
NM_002168.4(IDH2):c.312C>T (p.Thr104=)
|
rs200994809
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_002168.4(IDH2):c.563G>A (p.Arg188Gln)
|
rs749096156
|
0.00006
|
NM_002168.4(IDH2):c.62G>C (p.Trp21Ser)
|
rs776341694
|
0.00006
|
NM_152783.5(D2HGDH):c.*669G>A
|
rs868370456
|
0.00006
|
NM_152783.5(D2HGDH):c.1141-14G>A
|
rs376050718
|
0.00006
|
NM_152783.5(D2HGDH):c.114C>T (p.Ser38=)
|
rs767944127
|
0.00006
|
NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met)
|
rs371794611
|
0.00006
|
NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His)
|
rs199908032
|
0.00006
|
NM_152783.5(D2HGDH):c.138G>A (p.Pro46=)
|
rs527434206
|
0.00006
|
NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val)
|
rs369324431
|
0.00006
|
NM_002168.4(IDH2):c.65C>T (p.Ala22Val)
|
rs770871840
|
0.00005
|
NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp)
|
rs1437082537
|
0.00005
|
NM_152783.5(D2HGDH):c.1306+7G>A
|
rs537773004
|
0.00005
|
NM_152783.5(D2HGDH):c.1452C>T (p.Asp484=)
|
rs373229694
|
0.00005
|
NM_152783.5(D2HGDH):c.1528A>G (p.Ile510Val)
|
rs749622678
|
0.00005
|
NM_152783.5(D2HGDH):c.198C>T (p.Asp66=)
|
rs751534794
|
0.00005
|
NM_152783.5(D2HGDH):c.634C>T (p.Arg212Trp)
|
rs765328102
|
0.00005
|
NM_152783.5(D2HGDH):c.854-8C>T
|
rs758727451
|
0.00005
|
NM_002168.4(IDH2):c.207+15T>C
|
rs760387367
|
0.00004
|
NM_002168.4(IDH2):c.207+9C>T
|
rs753374663
|
0.00004
|
NM_002168.4(IDH2):c.844A>G (p.Lys282Glu)
|
rs771346231
|
0.00004
|
NM_152783.5(D2HGDH):c.*713C>T
|
rs955806203
|
0.00004
|
NM_152783.5(D2HGDH):c.1122C>T (p.Thr374=)
|
rs556507268
|
0.00004
|
NM_152783.5(D2HGDH):c.1430G>C (p.Gly477Ala)
|
rs565397135
|
0.00004
|
NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)
|
rs781581192
|
0.00004
|
NM_152783.5(D2HGDH):c.516C>T (p.Cys172=)
|
rs971378866
|
0.00004
|
NM_002168.4(IDH2):c.562C>T (p.Arg188Trp)
|
rs541249526
|
0.00003
|
NM_002168.4(IDH2):c.588C>G (p.Phe196Leu)
|
rs758536587
|
0.00003
|
NM_152783.5(D2HGDH):c.*709G>A
|
rs891588656
|
0.00003
|
NM_152783.5(D2HGDH):c.1080C>T (p.His360=)
|
rs765266342
|
0.00003
|
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)
|
rs183342534
|
0.00003
|
NM_152783.5(D2HGDH):c.1141-12C>T
|
rs753825335
|
0.00003
|
NM_152783.5(D2HGDH):c.1275C>T (p.His425=)
|
rs778298075
|
0.00003
|
NM_152783.5(D2HGDH):c.1306+14C>T
|
rs368074891
|
0.00003
|
NM_152783.5(D2HGDH):c.1351C>T (p.Pro451Ser)
|
rs527825722
|
0.00003
|
NM_152783.5(D2HGDH):c.1428C>T (p.His476=)
|
rs776978504
|
0.00003
|
NM_152783.5(D2HGDH):c.1502T>C (p.Leu501Pro)
|
rs747738269
|
0.00003
|
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)
|
rs371102955
|
0.00003
|
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs)
|
rs749330477
|
0.00003
|
NM_152783.5(D2HGDH):c.327G>A (p.Ser109=)
|
rs374304979
|
0.00003
|
NM_152783.5(D2HGDH):c.351-8C>T
|
rs368141783
|
0.00003
|
NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys)
|
rs201926349
|
0.00003
|
NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu)
|
rs781751387
|
0.00003
|
NM_002168.4(IDH2):c.1023G>A (p.Thr341=)
|
rs370350675
|
0.00002
|
NM_002168.4(IDH2):c.1171C>T (p.Leu391Phe)
|
rs1247633248
|
0.00002
|
NM_002168.4(IDH2):c.1284C>T (p.Asn428=)
|
rs191547948
|
0.00002
|
NM_002168.4(IDH2):c.1354C>G (p.Gln452Glu)
|
rs553627406
|
0.00002
|
NM_002168.4(IDH2):c.535-6C>T
|
rs760220786
|
0.00002
|
NM_002168.4(IDH2):c.639C>T (p.Pro213=)
|
rs1409403464
|
0.00002
|
NM_002168.4(IDH2):c.68C>G (p.Pro23Arg)
|
rs746881165
|
0.00002
|
NM_152783.5(D2HGDH):c.*171G>A
|
rs886055849
|
0.00002
|
NM_152783.5(D2HGDH):c.*499G>A
|
rs886055851
|
0.00002
|
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys)
|
rs769832110
|
0.00002
|
NM_152783.5(D2HGDH):c.1257C>T (p.Arg419=)
|
rs368133306
|
0.00002
|
NM_152783.5(D2HGDH):c.1337C>T (p.Ala446Val)
|
rs746956176
|
0.00002
|
NM_152783.5(D2HGDH):c.1523A>G (p.Lys508Arg)
|
rs770361030
|
0.00002
|
NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro)
|
rs797045509
|
0.00002
|
NM_152783.5(D2HGDH):c.319C>T (p.Arg107Trp)
|
rs760624454
|
0.00002
|
NM_152783.5(D2HGDH):c.490+18G>A
|
rs747902589
|
0.00002
|
NM_152783.5(D2HGDH):c.696C>T (p.Asp232=)
|
rs747611461
|
0.00002
|
NM_152783.5(D2HGDH):c.746A>G (p.Tyr249Cys)
|
rs761760267
|
0.00002
|
NM_002168.4(IDH2):c.1011T>G (p.Pro337=)
|
rs1222450557
|
0.00001
|
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr)
|
rs767061831
|
0.00001
|
NM_002168.4(IDH2):c.1129C>T (p.Arg377Cys)
|
rs765712414
|
0.00001
|
NM_002168.4(IDH2):c.1146G>A (p.Arg382=)
|
rs1168665757
|
0.00001
|
NM_002168.4(IDH2):c.1156G>C (p.Asp386His)
|
rs774323865
|
0.00001
|
NM_002168.4(IDH2):c.1167A>G (p.Gln389=)
|
rs749134763
|
0.00001
|
NM_002168.4(IDH2):c.1259A>T (p.His420Leu)
|
rs748291315
|
0.00001
|
NM_002168.4(IDH2):c.1271+11T>C
|
rs200898927
|
0.00001
|
NM_002168.4(IDH2):c.223G>A (p.Val75Met)
|
rs956543166
|
0.00001
|
NM_002168.4(IDH2):c.373+5G>A
|
rs1901004338
|
0.00001
|
NM_002168.4(IDH2):c.373+9G>T
|
rs755607312
|
0.00001
|
NM_002168.4(IDH2):c.374-17T>C
|
rs566198467
|
0.00001
|
NM_002168.4(IDH2):c.489C>A (p.Gly163=)
|
rs750503834
|
0.00001
|
NM_002168.4(IDH2):c.646G>A (p.Gly216Ser)
|
rs370851685
|
0.00001
|
NM_002168.4(IDH2):c.662T>C (p.Met221Thr)
|
rs376694064
|
0.00001
|
NM_002168.4(IDH2):c.678+19T>C
|
rs940765473
|
0.00001
|
NM_002168.4(IDH2):c.679-6C>A
|
rs1487904652
|
0.00001
|
NM_002168.4(IDH2):c.705C>T (p.Cys235=)
|
rs773159667
|
0.00001
|
NM_002168.4(IDH2):c.753G>A (p.Lys251=)
|
rs1458791406
|
0.00001
|
NM_002168.4(IDH2):c.903G>A (p.Ser301=)
|
rs371460407
|
0.00001
|
NM_152783.5(D2HGDH):c.*256G>T
|
rs1295961695
|
0.00001
|
NM_152783.5(D2HGDH):c.*687C>T
|
rs1056471627
|
0.00001
|
NM_152783.5(D2HGDH):c.-105G>A
|
rs1009517781
|
0.00001
|
NM_152783.5(D2HGDH):c.107G>T (p.Cys36Phe)
|
rs762478969
|
0.00001
|
NM_152783.5(D2HGDH):c.1152C>T (p.Ala384=)
|
rs907792347
|
0.00001
|
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met)
|
rs769624048
|
0.00001
|
NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala)
|
rs121434360
|
0.00001
|
NM_152783.5(D2HGDH):c.1398C>T (p.Ala466=)
|
rs751529813
|
0.00001
|
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=)
|
rs763276027
|
0.00001
|
NM_152783.5(D2HGDH):c.1505A>G (p.Lys502Arg)
|
rs751788334
|
0.00001
|
NM_152783.5(D2HGDH):c.1535A>G (p.Asn512Ser)
|
rs797045508
|
0.00001
|
NM_152783.5(D2HGDH):c.1548G>A (p.Thr516=)
|
rs767481650
|
0.00001
|
NM_152783.5(D2HGDH):c.156C>T (p.Tyr52=)
|
rs1342397334
|
0.00001
|
NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys)
|
rs752903016
|
0.00001
|
NM_152783.5(D2HGDH):c.263C>T (p.Pro88Leu)
|
rs750320267
|
0.00001
|
NM_152783.5(D2HGDH):c.290G>A (p.Arg97Gln)
|
rs1692514824
|
0.00001
|
NM_152783.5(D2HGDH):c.29C>T (p.Pro10Leu)
|
rs1437303780
|
0.00001
|
NM_152783.5(D2HGDH):c.432C>T (p.Asp144=)
|
rs541023216
|
0.00001
|
NM_152783.5(D2HGDH):c.451G>A (p.Ala151Thr)
|
rs761620958
|
0.00001
|
NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp)
|
rs763345820
|
0.00001
|
NM_152783.5(D2HGDH):c.490+20C>T
|
rs771839448
|
0.00001
|
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)
|
rs773735172
|
0.00001
|
NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln)
|
rs927869057
|
0.00001
|
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)
|
rs587783517
|
0.00001
|
NM_152783.5(D2HGDH):c.601G>A (p.Gly201Arg)
|
rs772738615
|
0.00001
|
NM_152783.5(D2HGDH):c.684+12C>T
|
rs1695154641
|
0.00001
|
NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)
|
rs374535734
|
0.00001
|
NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met)
|
rs768774887
|
0.00001
|
NM_152783.5(D2HGDH):c.862G>C (p.Gly288Arg)
|
rs757451444
|
0.00001
|
NM_152783.5(D2HGDH):c.930C>T (p.Phe310=)
|
rs771622834
|
0.00001
|
NM_152783.5(D2HGDH):c.963C>T (p.Val321=)
|
rs141524359
|
0.00001
|
NM_152783.5(D2HGDH):c.997+11C>T
|
rs529526867
|
0.00001
|
NC_000002.11:g.(?_238233417)_(242800990_?)dup
|
|
|
NC_000002.11:g.(?_238233417)_(242801596_?)del
|
|
|
NC_000002.11:g.(?_242680425)_(242684312_?)del
|
|
|
NC_000002.11:g.(?_242707105)_(242707384_?)del
|
|
|
NC_000002.11:g.(?_242707105)_(242707384_?)dup
|
|
|
NC_000002.12:g.(?_241735205)_(241767989_?)dup
|
|
|
NC_000002.12:g.(?_241741010)_(241767989_?)del
|
|
|
NC_000015.9:g.(?_89379429)_(91565479_?)dup
|
|
|
NC_000015.9:g.(?_90627498)_(90634896_?)dup
|
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_002168.4(IDH2):c.1010C>T (p.Pro337Leu)
|
|
|
NM_002168.4(IDH2):c.1022C>A (p.Thr341Lys)
|
|
|
NM_002168.4(IDH2):c.104C>A (p.Pro35Gln)
|
|
|
NM_002168.4(IDH2):c.1051G>A (p.Val351Ile)
|
|
|
NM_002168.4(IDH2):c.1059C>T (p.Arg353=)
|
|
|
NM_002168.4(IDH2):c.1080+18G>T
|
|
|
NM_002168.4(IDH2):c.1081-3C>T
|
rs1425884416
|
|
NM_002168.4(IDH2):c.1081-8G>A
|
|
|
NM_002168.4(IDH2):c.1081-9C>T
|
|
|
NM_002168.4(IDH2):c.1081-9dup
|
|
|
NM_002168.4(IDH2):c.1084C>T (p.Arg362Trp)
|
|
|
NM_002168.4(IDH2):c.109C>T (p.Arg37Cys)
|
rs1567261734
|
|
NM_002168.4(IDH2):c.1131T>C (p.Arg377=)
|
|
|
NM_002168.4(IDH2):c.1143C>G (p.His381Gln)
|
rs1596072062
|
|
NM_002168.4(IDH2):c.115+9C>A
|
rs1901354749
|
|
NM_002168.4(IDH2):c.116-19T>G
|
|
|
NM_002168.4(IDH2):c.1178+20C>T
|
|
|
NM_002168.4(IDH2):c.1178+8T>C
|
|
|
NM_002168.4(IDH2):c.1178G>A (p.Arg393Lys)
|
rs1340166037
|
|
NM_002168.4(IDH2):c.1179-3T>A
|
rs772170724
|
|
NM_002168.4(IDH2):c.1189A>G (p.Met397Val)
|
|
|
NM_002168.4(IDH2):c.1194G>A (p.Leu398=)
|
rs755291689
|
|
NM_002168.4(IDH2):c.1206C>T (p.Cys402=)
|
|
|
NM_002168.4(IDH2):c.1210G>C (p.Glu404Gln)
|
|
|
NM_002168.4(IDH2):c.1248G>A (p.Ala416=)
|
|
|
NM_002168.4(IDH2):c.1255A>G (p.Ile419Val)
|
|
|
NM_002168.4(IDH2):c.1266C>T (p.Leu422=)
|
|
|
NM_002168.4(IDH2):c.1271+10C>T
|
|
|
NM_002168.4(IDH2):c.1285G>A (p.Glu429Lys)
|
rs1900800432
|
|
NM_002168.4(IDH2):c.1325A>G (p.Lys442Arg)
|
|
|
NM_002168.4(IDH2):c.1356G>A (p.Gln452=)
|
rs2151546163
|
|
NM_002168.4(IDH2):c.1358A>G (p.Ter453Trp)
|
|
|
NM_002168.4(IDH2):c.1359G>A (p.Ter453=)
|
rs201015211
|
|
NM_002168.4(IDH2):c.137T>A (p.Val46Glu)
|
rs1418340668
|
|
NM_002168.4(IDH2):c.140C>T (p.Ala47Val)
|
|
|
NM_002168.4(IDH2):c.141G>T (p.Ala47=)
|
rs145802942
|
|
NM_002168.4(IDH2):c.145C>G (p.Pro49Ala)
|
|
|
NM_002168.4(IDH2):c.148G>A (p.Val50Met)
|
|
|
NM_002168.4(IDH2):c.207+5T>C
|
rs1901036129
|
|
NM_002168.4(IDH2):c.21C>T (p.Val7=)
|
|
|
NM_002168.4(IDH2):c.227A>G (p.Asp76Gly)
|
rs1901009838
|
|
NM_002168.4(IDH2):c.255G>T (p.Gly85=)
|
|
|
NM_002168.4(IDH2):c.266G>A (p.Arg89His)
|
|
|
NM_002168.4(IDH2):c.29C>T (p.Ser10Leu)
|
rs1234438811
|
|
NM_002168.4(IDH2):c.320A>G (p.Tyr107Cys)
|
rs1596076050
|
|
NM_002168.4(IDH2):c.338G>T (p.Cys113Phe)
|
|
|
NM_002168.4(IDH2):c.374-20T>C
|
rs2151549992
|
|
NM_002168.4(IDH2):c.388A>C (p.Lys130Gln)
|
|
|
NM_002168.4(IDH2):c.389A>T (p.Lys130Met)
|
rs529638451
|
|
NM_002168.4(IDH2):c.407A>T (p.Asn136Ile)
|
|
|
NM_002168.4(IDH2):c.418C>G (p.Arg140Gly)
|
rs267606870
|
|
NM_002168.4(IDH2):c.425T>C (p.Ile142Thr)
|
|
|
NM_002168.4(IDH2):c.426C>A (p.Ile142=)
|
|
|
NM_002168.4(IDH2):c.427C>T (p.Leu143=)
|
rs762170003
|
|
NM_002168.4(IDH2):c.432G>T (p.Gly144=)
|
|
|
NM_002168.4(IDH2):c.438T>C (p.Thr146=)
|
rs1284288896
|
|
NM_002168.4(IDH2):c.475C>T (p.Arg159Cys)
|
|
|
NM_002168.4(IDH2):c.519C>T (p.His173=)
|
|
|
NM_002168.4(IDH2):c.534+19G>C
|
|
|
NM_002168.4(IDH2):c.534+2T>C
|
rs2151549498
|
|
NM_002168.4(IDH2):c.535-11T>C
|
|
|
NM_002168.4(IDH2):c.535-13C>T
|
|
|
NM_002168.4(IDH2):c.582G>A (p.Met194Ile)
|
|
|
NM_002168.4(IDH2):c.588C>T (p.Phe196=)
|
|
|
NM_002168.4(IDH2):c.608G>A (p.Gly203Asp)
|
|
|
NM_002168.4(IDH2):c.629A>G (p.Tyr210Cys)
|
|
|
NM_002168.4(IDH2):c.62G>A (p.Trp21Ter)
|
|
|
NM_002168.4(IDH2):c.638C>T (p.Pro213Leu)
|
|
|
NM_002168.4(IDH2):c.657G>A (p.Met219Ile)
|
|
|
NM_002168.4(IDH2):c.661A>G (p.Met221Val)
|
|
|
NM_002168.4(IDH2):c.675C>A (p.Asp225Glu)
|
|
|
NM_002168.4(IDH2):c.676G>A (p.Glu226Lys)
|
|
|
NM_002168.4(IDH2):c.679-16G>A
|
|
|
NM_002168.4(IDH2):c.679-7C>A
|
rs752232116
|
|
NM_002168.4(IDH2):c.69G>C (p.Pro23=)
|
|
|
NM_002168.4(IDH2):c.723G>C (p.Gln241His)
|
rs1900894494
|
|
NM_002168.4(IDH2):c.729A>G (p.Lys243=)
|
rs1596073596
|
|
NM_002168.4(IDH2):c.731G>C (p.Trp244Ser)
|
|
|
NM_002168.4(IDH2):c.734C>T (p.Pro245Leu)
|
rs1900894030
|
|
NM_002168.4(IDH2):c.742A>C (p.Met248Leu)
|
|
|
NM_002168.4(IDH2):c.742A>G (p.Met248Val)
|
|
|
NM_002168.4(IDH2):c.76C>T (p.Leu26=)
|
|
|
NM_002168.4(IDH2):c.807dup (p.Phe270fs)
|
|
|
NM_002168.4(IDH2):c.815+19A>G
|
|
|
NM_002168.4(IDH2):c.816-19C>T
|
|
|
NM_002168.4(IDH2):c.821A>G (p.Tyr274Cys)
|
|
|
NM_002168.4(IDH2):c.840G>C (p.Lys280Asn)
|
|
|
NM_002168.4(IDH2):c.849C>G (p.Ile283Met)
|
|
|
NM_002168.4(IDH2):c.855T>C (p.Tyr285=)
|
|
|
NM_002168.4(IDH2):c.877A>C (p.Met293Leu)
|
rs1900881296
|
|
NM_002168.4(IDH2):c.88A>T (p.Thr30Ser)
|
|
|
NM_002168.4(IDH2):c.905G>C (p.Gly302Ala)
|
|
|
NM_002168.4(IDH2):c.923G>C (p.Cys308Ser)
|
rs1344620365
|
|
NM_002168.4(IDH2):c.967+2T>C
|
rs2151547972
|
|
NM_002168.4(IDH2):c.968-10T>C
|
|
|
NM_152783.5(D2HGDH):c.*253C>T
|
rs1699309905
|
|
NM_152783.5(D2HGDH):c.*321A>G
|
rs765103729
|
|
NM_152783.5(D2HGDH):c.*411dup
|
rs113265004
|
|
NM_152783.5(D2HGDH):c.*433G>T
|
rs146545933
|
|
NM_152783.5(D2HGDH):c.*553G>T
|
rs886055852
|
|
NM_152783.5(D2HGDH):c.*633T>A
|
rs1699332917
|
|
NM_152783.5(D2HGDH):c.-102G>A
|
rs1397577304
|
|
NM_152783.5(D2HGDH):c.-135C>A
|
rs557321808
|
|
NM_152783.5(D2HGDH):c.-141C>T
|
rs886055845
|
|
NM_152783.5(D2HGDH):c.-37C>T
|
rs773503026
|
|
NM_152783.5(D2HGDH):c.-92-2A>T
|
rs1559333243
|
|
NM_152783.5(D2HGDH):c.1015C>T (p.Leu339Phe)
|
|
|
NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)
|
|
|
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)
|
rs797045506
|
|
NM_152783.5(D2HGDH):c.1038C>T (p.Asn346=)
|
|
|
NM_152783.5(D2HGDH):c.103_104delinsAA (p.Gly35Asn)
|
rs2124995392
|
|
NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln)
|
rs1697158886
|
|
NM_152783.5(D2HGDH):c.1064G>A (p.Gly355Asp)
|
rs1697160410
|
|
NM_152783.5(D2HGDH):c.1114A>G (p.Met372Val)
|
|
|
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr)
|
rs267606759
|
|
NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg)
|
rs1575286670
|
|
NM_152783.5(D2HGDH):c.1140+19G>T
|
|
|
NM_152783.5(D2HGDH):c.1141-15C>T
|
|
|
NM_152783.5(D2HGDH):c.1152C>A (p.Ala384=)
|
|
|
NM_152783.5(D2HGDH):c.1160A>T (p.Glu387Val)
|
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|
NM_152783.5(D2HGDH):c.1182C>T (p.Ser394=)
|
|
|
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
|
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|
NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)
|
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|
NM_152783.5(D2HGDH):c.1206C>T (p.Tyr402=)
|
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|
NM_152783.5(D2HGDH):c.1212C>T (p.Leu404=)
|
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|
NM_152783.5(D2HGDH):c.1214C>T (p.Ser405Phe)
|
rs1698116237
|
|
NM_152783.5(D2HGDH):c.1220C>T (p.Pro407Leu)
|
rs1698117011
|
|
NM_152783.5(D2HGDH):c.1239C>T (p.Asp413=)
|
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|
NM_152783.5(D2HGDH):c.1252C>G (p.Leu418Val)
|
rs771150863
|
|
NM_152783.5(D2HGDH):c.1266C>T (p.Leu422=)
|
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|
NM_152783.5(D2HGDH):c.126C>G (p.Thr42=)
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NM_152783.5(D2HGDH):c.1271C>T (p.Pro424Leu)
|
|
|
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=)
|
rs375565047
|
|
NM_152783.5(D2HGDH):c.1272G>T (p.Pro424=)
|
rs375565047
|
|
NM_152783.5(D2HGDH):c.1284C>T (p.His428=)
|
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|
NM_152783.5(D2HGDH):c.1302C>T (p.His434=)
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|
NM_152783.5(D2HGDH):c.1306+11C>T
|
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NM_152783.5(D2HGDH):c.1306+1del
|
rs2125158367
|
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NM_152783.5(D2HGDH):c.1306+2T>C
|
rs797045507
|
|
NM_152783.5(D2HGDH):c.1307G>T (p.Gly436Val)
|
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|
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp)
|
rs121434362
|
|
NM_152783.5(D2HGDH):c.1324C>T (p.Leu442Phe)
|
|
|
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs)
|
rs1559404382
|
|
NM_152783.5(D2HGDH):c.1356G>A (p.Ser452=)
|
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|
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro)
|
rs1575352566
|
|
NM_152783.5(D2HGDH):c.1377C>T (p.Pro459=)
|
rs143940595
|
|
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs)
|
rs1699275754
|
|
NM_152783.5(D2HGDH):c.1394C>T (p.Thr465Met)
|
|
|
NM_152783.5(D2HGDH):c.1398C>A (p.Ala466=)
|
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|
NM_152783.5(D2HGDH):c.1401G>A (p.Gly467=)
|
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|
NM_152783.5(D2HGDH):c.1419C>T (p.Ser473=)
|
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|
NM_152783.5(D2HGDH):c.1422G>A (p.Ala474=)
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|
NM_152783.5(D2HGDH):c.1495C>G (p.Gln499Glu)
|
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|
NM_152783.5(D2HGDH):c.1503C>G (p.Leu501=)
|
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|
NM_152783.5(D2HGDH):c.1525G>T (p.Gly509Cys)
|
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|
NM_152783.5(D2HGDH):c.1531del (p.Leu511fs)
|
|
|
NM_152783.5(D2HGDH):c.1548G>T (p.Thr516=)
|
rs767481650
|
|
NM_152783.5(D2HGDH):c.164G>C (p.Arg55Pro)
|
|
|
NM_152783.5(D2HGDH):c.177C>T (p.Phe59=)
|
|
|
NM_152783.5(D2HGDH):c.204C>T (p.Ala68=)
|
|
|
NM_152783.5(D2HGDH):c.228C>T (p.Gly76=)
|
rs771597564
|
|
NM_152783.5(D2HGDH):c.229G>A (p.Gly77Arg)
|
|
|
NM_152783.5(D2HGDH):c.257A>G (p.Gln86Arg)
|
|
|
NM_152783.5(D2HGDH):c.273C>G (p.Asp91Glu)
|
|
|
NM_152783.5(D2HGDH):c.281G>T (p.Arg94Leu)
|
|
|
NM_152783.5(D2HGDH):c.285G>C (p.Thr95=)
|
|
|
NM_152783.5(D2HGDH):c.289C>G (p.Arg97Gly)
|
|
|
NM_152783.5(D2HGDH):c.293-18A>G
|
rs4073889
|
|
NM_152783.5(D2HGDH):c.293-23A>G
|
rs145731647
|
|
NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)
|
|
|
NM_152783.5(D2HGDH):c.350+10_350+12del
|
rs1694331906
|
|
NM_152783.5(D2HGDH):c.350+18G>A
|
|
|
NM_152783.5(D2HGDH):c.350+19del
|
rs561094508
|
|
NM_152783.5(D2HGDH):c.351-18C>T
|
|
|
NM_152783.5(D2HGDH):c.351-20C>G
|
|
|
NM_152783.5(D2HGDH):c.357C>T (p.Cys119=)
|
|
|
NM_152783.5(D2HGDH):c.37C>T (p.Leu13=)
|
rs965315670
|
|
NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)
|
|
|
NM_152783.5(D2HGDH):c.39G>A (p.Leu13=)
|
|
|
NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)
|
|
|
NM_152783.5(D2HGDH):c.43C>A (p.Arg15=)
|
|
|
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser)
|
rs121434361
|
|
NM_152783.5(D2HGDH):c.447C>T (p.Ser149=)
|
rs1694760766
|
|
NM_152783.5(D2HGDH):c.455G>T (p.Arg152Leu)
|
|
|
NM_152783.5(D2HGDH):c.456C>A (p.Arg152=)
|
rs2125068746
|
|
NM_152783.5(D2HGDH):c.471C>T (p.Leu157=)
|
|
|
NM_152783.5(D2HGDH):c.472A>G (p.Ser158Gly)
|
|
|
NM_152783.5(D2HGDH):c.477C>T (p.Phe159=)
|
rs2125068910
|
|
NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)
|
|
|
NM_152783.5(D2HGDH):c.537G>A (p.Arg179=)
|
|
|
NM_152783.5(D2HGDH):c.540T>C (p.Tyr180=)
|
rs752626142
|
|
NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp)
|
rs758354618
|
|
NM_152783.5(D2HGDH):c.567G>T (p.Pro189=)
|
|
|
NM_152783.5(D2HGDH):c.574T>G (p.Leu192Val)
|
rs2125080715
|
|
NM_152783.5(D2HGDH):c.57A>G (p.Gly19=)
|
rs2124994384
|
|
NM_152783.5(D2HGDH):c.600C>A (p.Ile200=)
|
rs775046649
|
|
NM_152783.5(D2HGDH):c.600C>T (p.Ile200=)
|
rs775046649
|
|
NM_152783.5(D2HGDH):c.609C>G (p.Asn203Lys)
|
|
|
NM_152783.5(D2HGDH):c.609C>T (p.Asn203=)
|
|
|
NM_152783.5(D2HGDH):c.615A>G (p.Ala205=)
|
|
|
NM_152783.5(D2HGDH):c.621C>T (p.Asn207=)
|
|
|
NM_152783.5(D2HGDH):c.642del (p.Arg215fs)
|
rs1559361049
|
|
NM_152783.5(D2HGDH):c.658C>T (p.His220Tyr)
|
|
|
NM_152783.5(D2HGDH):c.669C>T (p.Val223=)
|
|
|
NM_152783.5(D2HGDH):c.675C>T (p.Gly225=)
|
rs781012097
|
|
NM_152783.5(D2HGDH):c.684+9G>C
|
|
|
NM_152783.5(D2HGDH):c.685-20G>A
|
|
|
NM_152783.5(D2HGDH):c.685-9_685-8inv
|
|
|
NM_152783.5(D2HGDH):c.685G>A (p.Val229Met)
|
|
|
NM_152783.5(D2HGDH):c.693C>T (p.Ala231=)
|
|
|
NM_152783.5(D2HGDH):c.6G>A (p.Leu2=)
|
rs925382170
|
|
NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)
|
|
|
NM_152783.5(D2HGDH):c.741G>A (p.Thr247=)
|
|
|
NM_152783.5(D2HGDH):c.79C>T (p.Pro27Ser)
|
|
|
NM_152783.5(D2HGDH):c.800C>T (p.Thr267Met)
|
|
|
NM_152783.5(D2HGDH):c.831G>A (p.Arg277=)
|
|
|
NM_152783.5(D2HGDH):c.841G>C (p.Val281Leu)
|
|
|
NM_152783.5(D2HGDH):c.853+2T>C
|
rs1559364994
|
|
NM_152783.5(D2HGDH):c.854-19A>G
|
|
|
NM_152783.5(D2HGDH):c.854-7G>A
|
rs1575278743
|
|
NM_152783.5(D2HGDH):c.873G>A (p.Glu291=)
|
|
|
NM_152783.5(D2HGDH):c.87C>T (p.Gly29=)
|
|
|
NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)
|
|
|
NM_152783.5(D2HGDH):c.893C>G (p.Thr298Ser)
|
|
|
NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)
|
|
|
NM_152783.5(D2HGDH):c.923C>G (p.Ser308Cys)
|
rs886055848
|
|
NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)
|
|
|
NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)
|
|
|
NM_152783.5(D2HGDH):c.997+12C>T
|
|
|
NM_152783.5(D2HGDH):c.997+13C>G
|
|
|
NM_152783.5(D2HGDH):c.997+13del
|
rs1307856808
|
|
NM_152783.5(D2HGDH):c.997+17C>T
|
rs775900141
|
|
NM_152783.5(D2HGDH):c.997+8C>T
|
|
|
NM_152783.5(D2HGDH):c.998-2A>G
|
rs1559380854
|
|
NM_152783.5(D2HGDH):c.998-7C>T
|
|
|