NM_152783.5(D2HGDH):c.685-9T>C
|
rs4234097
|
0.55730
|
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)
|
rs77940364
|
0.27302
|
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.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.1063G>A (p.Gly355Ser)
|
rs139321130
|
0.00949
|
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly)
|
rs4675887
|
0.00845
|
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.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.1476G>A (p.Pro492=)
|
rs140096524
|
0.00297
|
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)
|
rs113782371
|
0.00267
|
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)
|
rs149504235
|
0.00235
|
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
|
rs142473303
|
0.00176
|
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.1140+8G>A
|
rs369135156
|
0.00073
|
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)
|
rs143460342
|
0.00071
|
NM_152783.5(D2HGDH):c.997+18_997+19del
|
rs371493676
|
0.00064
|
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe)
|
rs145839736
|
0.00052
|
NM_152783.5(D2HGDH):c.840C>T (p.Asn280=)
|
rs138467167
|
0.00046
|
NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp)
|
rs149628174
|
0.00038
|
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile)
|
rs141475702
|
0.00029
|
NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
|
rs142624021
|
0.00025
|
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_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys)
|
rs138598929
|
0.00016
|
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)
|
rs377034676
|
0.00016
|
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_152783.5(D2HGDH):c.93G>T (p.Leu31=)
|
rs375720367
|
0.00012
|
NM_152783.5(D2HGDH):c.997+6G>A
|
rs749247772
|
0.00012
|
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.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_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_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.1547C>T (p.Thr516Met)
|
rs762019434
|
0.00007
|
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_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.854-8C>T
|
rs758727451
|
0.00005
|
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_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.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.821C>T (p.Pro274Leu)
|
rs781751387
|
0.00003
|
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys)
|
rs769832110
|
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.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_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.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.490+20C>T
|
rs771839448
|
0.00001
|
NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)
|
rs773735172
|
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
|
|
|
NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)
|
|
|
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)
|
|
|
NM_152783.5(D2HGDH):c.1182C>T (p.Ser394=)
|
|
|
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
|
|
|
NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)
|
|
|
NM_152783.5(D2HGDH):c.1206C>T (p.Tyr402=)
|
|
|
NM_152783.5(D2HGDH):c.1212C>T (p.Leu404=)
|
|
|
NM_152783.5(D2HGDH):c.1214C>T (p.Ser405Phe)
|
rs1698116237
|
|
NM_152783.5(D2HGDH):c.1239C>T (p.Asp413=)
|
|
|
NM_152783.5(D2HGDH):c.1266C>T (p.Leu422=)
|
|
|
NM_152783.5(D2HGDH):c.126C>G (p.Thr42=)
|
|
|
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=)
|
|
|
NM_152783.5(D2HGDH):c.1302C>T (p.His434=)
|
|
|
NM_152783.5(D2HGDH):c.1306+11C>T
|
|
|
NM_152783.5(D2HGDH):c.1306+1del
|
rs2125158367
|
|
NM_152783.5(D2HGDH):c.1307G>T (p.Gly436Val)
|
|
|
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=)
|
|
|
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=)
|
|
|
NM_152783.5(D2HGDH):c.1401G>A (p.Gly467=)
|
|
|
NM_152783.5(D2HGDH):c.1419C>T (p.Ser473=)
|
|
|
NM_152783.5(D2HGDH):c.1422G>A (p.Ala474=)
|
|
|
NM_152783.5(D2HGDH):c.1495C>G (p.Gln499Glu)
|
|
|
NM_152783.5(D2HGDH):c.1503C>G (p.Leu501=)
|
|
|
NM_152783.5(D2HGDH):c.1525G>T (p.Gly509Cys)
|
|
|
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.320G>A (p.Arg107Gln)
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NM_152783.5(D2HGDH):c.350+18G>A
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NM_152783.5(D2HGDH):c.350+19del
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rs561094508
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NM_152783.5(D2HGDH):c.351-18C>T
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NM_152783.5(D2HGDH):c.351-20C>G
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NM_152783.5(D2HGDH):c.357C>T (p.Cys119=)
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NM_152783.5(D2HGDH):c.37C>T (p.Leu13=)
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rs965315670
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NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)
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NM_152783.5(D2HGDH):c.39G>A (p.Leu13=)
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NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)
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NM_152783.5(D2HGDH):c.43C>A (p.Arg15=)
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NM_152783.5(D2HGDH):c.447C>T (p.Ser149=)
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rs1694760766
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NM_152783.5(D2HGDH):c.455G>T (p.Arg152Leu)
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NM_152783.5(D2HGDH):c.456C>A (p.Arg152=)
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rs2125068746
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NM_152783.5(D2HGDH):c.471C>T (p.Leu157=)
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NM_152783.5(D2HGDH):c.472A>G (p.Ser158Gly)
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NM_152783.5(D2HGDH):c.477C>T (p.Phe159=)
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rs2125068910
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NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)
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NM_152783.5(D2HGDH):c.537G>A (p.Arg179=)
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NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp)
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rs758354618
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NM_152783.5(D2HGDH):c.567G>T (p.Pro189=)
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NM_152783.5(D2HGDH):c.574T>G (p.Leu192Val)
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rs2125080715
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NM_152783.5(D2HGDH):c.57A>G (p.Gly19=)
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rs2124994384
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NM_152783.5(D2HGDH):c.600C>A (p.Ile200=)
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rs775046649
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NM_152783.5(D2HGDH):c.600C>T (p.Ile200=)
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rs775046649
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NM_152783.5(D2HGDH):c.609C>T (p.Asn203=)
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NM_152783.5(D2HGDH):c.615A>G (p.Ala205=)
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NM_152783.5(D2HGDH):c.621C>T (p.Asn207=)
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NM_152783.5(D2HGDH):c.642del (p.Arg215fs)
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rs1559361049
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NM_152783.5(D2HGDH):c.658C>T (p.His220Tyr)
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NM_152783.5(D2HGDH):c.669C>T (p.Val223=)
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NM_152783.5(D2HGDH):c.675C>T (p.Gly225=)
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rs781012097
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NM_152783.5(D2HGDH):c.684+9G>C
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NM_152783.5(D2HGDH):c.685-20G>A
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NM_152783.5(D2HGDH):c.685-9_685-8inv
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NM_152783.5(D2HGDH):c.685G>A (p.Val229Met)
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NM_152783.5(D2HGDH):c.693C>T (p.Ala231=)
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NM_152783.5(D2HGDH):c.6G>A (p.Leu2=)
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rs925382170
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NM_152783.5(D2HGDH):c.741G>A (p.Thr247=)
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NM_152783.5(D2HGDH):c.79C>T (p.Pro27Ser)
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NM_152783.5(D2HGDH):c.800C>T (p.Thr267Met)
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NM_152783.5(D2HGDH):c.831G>A (p.Arg277=)
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NM_152783.5(D2HGDH):c.841G>C (p.Val281Leu)
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NM_152783.5(D2HGDH):c.853+2T>C
|
rs1559364994
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NM_152783.5(D2HGDH):c.854-19A>G
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NM_152783.5(D2HGDH):c.873G>A (p.Glu291=)
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NM_152783.5(D2HGDH):c.87C>T (p.Gly29=)
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NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)
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|
NM_152783.5(D2HGDH):c.893C>G (p.Thr298Ser)
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NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)
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NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)
|
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NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)
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NM_152783.5(D2HGDH):c.997+12C>T
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NM_152783.5(D2HGDH):c.997+13C>G
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NM_152783.5(D2HGDH):c.997+13del
|
rs1307856808
|
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NM_152783.5(D2HGDH):c.997+17C>T
|
rs775900141
|
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NM_152783.5(D2HGDH):c.997+8C>T
|
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NM_152783.5(D2HGDH):c.998-7C>T
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