NM_152783.5(D2HGDH):c.*87C>T
|
rs546752536
|
0.00378
|
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.*717C>G
|
rs555898820
|
0.00117
|
NM_152783.5(D2HGDH):c.1140+8G>A
|
rs369135156
|
0.00073
|
NM_152783.5(D2HGDH):c.*461C>T
|
rs530527351
|
0.00070
|
NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe)
|
rs145839736
|
0.00052
|
NM_152783.5(D2HGDH):c.*2G>A
|
rs144699251
|
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.*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_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)
|
rs142624021
|
0.00025
|
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.*537G>A
|
rs369661387
|
0.00017
|
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.*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_152783.5(D2HGDH):c.*597C>T
|
rs187157907
|
0.00013
|
NM_152783.5(D2HGDH):c.*334C>T
|
rs934875929
|
0.00012
|
NM_152783.5(D2HGDH):c.997+6G>A
|
rs749247772
|
0.00012
|
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.*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_152783.5(D2HGDH):c.*405C>T
|
rs1005668285
|
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.*298C>T
|
rs555079079
|
0.00007
|
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met)
|
rs762019434
|
0.00007
|
NM_152783.5(D2HGDH):c.*669G>A
|
rs868370456
|
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.1306+7G>A
|
rs537773004
|
0.00005
|
NM_152783.5(D2HGDH):c.1528A>G (p.Ile510Val)
|
rs749622678
|
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_152783.5(D2HGDH):c.*713C>T
|
rs955806203
|
0.00004
|
NM_152783.5(D2HGDH):c.1430G>C (p.Gly477Ala)
|
rs565397135
|
0.00004
|
NM_152783.5(D2HGDH):c.*709G>A
|
rs891588656
|
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.1351C>T (p.Pro451Ser)
|
rs527825722
|
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.454C>T (p.Arg152Cys)
|
rs201926349
|
0.00003
|
NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu)
|
rs781751387
|
0.00003
|
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.319C>T (p.Arg107Trp)
|
rs760624454
|
0.00002
|
NM_152783.5(D2HGDH):c.746A>G (p.Tyr249Cys)
|
rs761760267
|
0.00002
|
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.1285G>A (p.Val429Met)
|
rs769624048
|
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.451G>A (p.Ala151Thr)
|
rs761620958
|
0.00001
|
NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp)
|
rs763345820
|
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.963C>T (p.Val321=)
|
rs141524359
|
0.00001
|
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
|
|
|
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.*553G>T
|
rs886055852
|
|
NM_152783.5(D2HGDH):c.*633T>A
|
rs1699332917
|
|
NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)
|
|
|
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.1160A>T (p.Glu387Val)
|
|
|
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
|
|
|
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.1252C>G (p.Leu418Val)
|
rs771150863
|
|
NM_152783.5(D2HGDH):c.1271C>T (p.Pro424Leu)
|
|
|
NM_152783.5(D2HGDH):c.1307G>T (p.Gly436Val)
|
|
|
NM_152783.5(D2HGDH):c.1324C>T (p.Leu442Phe)
|
|
|
NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro)
|
rs1575352566
|
|
NM_152783.5(D2HGDH):c.1394C>T (p.Thr465Met)
|
|
|
NM_152783.5(D2HGDH):c.1495C>G (p.Gln499Glu)
|
|
|
NM_152783.5(D2HGDH):c.1525G>T (p.Gly509Cys)
|
|
|
NM_152783.5(D2HGDH):c.1531del (p.Leu511fs)
|
|
|
NM_152783.5(D2HGDH):c.229G>A (p.Gly77Arg)
|
|
|
NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)
|
|
|
NM_152783.5(D2HGDH):c.350+10_350+12del
|
rs1694331906
|
|
NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)
|
|
|
NM_152783.5(D2HGDH):c.455G>T (p.Arg152Leu)
|
|
|
NM_152783.5(D2HGDH):c.472A>G (p.Ser158Gly)
|
|
|
NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)
|
|
|
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.574T>G (p.Leu192Val)
|
rs2125080715
|
|
NM_152783.5(D2HGDH):c.609C>G (p.Asn203Lys)
|
|
|
NM_152783.5(D2HGDH):c.658C>T (p.His220Tyr)
|
|
|
NM_152783.5(D2HGDH):c.684+9G>C
|
|
|
NM_152783.5(D2HGDH):c.685G>A (p.Val229Met)
|
|
|
NM_152783.5(D2HGDH):c.79C>T (p.Pro27Ser)
|
|
|
NM_152783.5(D2HGDH):c.800C>T (p.Thr267Met)
|
|
|
NM_152783.5(D2HGDH):c.841G>C (p.Val281Leu)
|
|
|
NM_152783.5(D2HGDH):c.854-7G>A
|
rs1575278743
|
|
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.998-2A>G
|
rs1559380854
|
|