NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe)
|
rs145839736
|
0.00052
|
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.1199A>G (p.Tyr400Cys)
|
rs138598929
|
0.00016
|
NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His)
|
rs139611034
|
0.00014
|
NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)
|
rs112424377
|
0.00014
|
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.1453G>A (p.Val485Ile)
|
rs375162898
|
0.00010
|
NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile)
|
rs143231454
|
0.00010
|
NM_152783.5(D2HGDH):c.832G>A (p.Ala278Thr)
|
rs148920052
|
0.00009
|
NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met)
|
rs762019434
|
0.00007
|
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.108C>G (p.Cys36Trp)
|
rs1437082537
|
0.00005
|
NM_152783.5(D2HGDH):c.1528A>G (p.Ile510Val)
|
rs749622678
|
0.00005
|
NM_152783.5(D2HGDH):c.1430G>C (p.Gly477Ala)
|
rs565397135
|
0.00004
|
NM_152783.5(D2HGDH):c.1351C>T (p.Pro451Ser)
|
rs527825722
|
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.746A>G (p.Tyr249Cys)
|
rs761760267
|
0.00002
|
NM_152783.5(D2HGDH):c.107G>T (p.Cys36Phe)
|
rs762478969
|
0.00001
|
NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met)
|
rs769624048
|
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.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.451G>A (p.Ala151Thr)
|
rs761620958
|
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
|
NC_000002.11:g.(?_238233417)_(242800990_?)dup
|
|
|
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.1018A>G (p.Ile340Val)
|
|
|
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.1160A>T (p.Glu387Val)
|
|
|
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
|
|
|
NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)
|
|
|
NM_152783.5(D2HGDH):c.1214C>T (p.Ser405Phe)
|
rs1698116237
|
|
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.164G>C (p.Arg55Pro)
|
|
|
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.289C>G (p.Arg97Gly)
|
|
|
NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)
|
|
|
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.549A>T (p.Glu183Asp)
|
rs758354618
|
|
NM_152783.5(D2HGDH):c.574T>G (p.Leu192Val)
|
rs2125080715
|
|
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.893C>G (p.Thr298Ser)
|
|
|
NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)
|
|
|
NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)
|
|
|
NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)
|
|
|