NM_152783.5(D2HGDH):c.685-2A>G
|
rs753528947
|
0.00011
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)
|
rs431905509
|
0.00003
|
NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs)
|
rs749330477
|
0.00003
|
NM_005984.5(SLC25A1):c.845G>A (p.Arg282His)
|
rs431905510
|
0.00002
|
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp)
|
rs368647424
|
0.00001
|
NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val)
|
rs483352910
|
0.00001
|
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)
|
rs387907013
|
0.00001
|
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter)
|
rs937345512
|
0.00001
|
NM_024884.3(L2HGDH):c.256+1G>A
|
rs150299874
|
0.00001
|
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg)
|
rs267607206
|
0.00001
|
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)
|
rs752025180
|
0.00001
|
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)
|
rs118204020
|
0.00001
|
NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala)
|
rs121434360
|
0.00001
|
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)
|
rs587783517
|
0.00001
|
L2HGDH, EX1-9DEL
|
|
|
NC_000002.11:g.(?_238233417)_(242801596_?)del
|
|
|
NC_000002.12:g.(?_241741010)_(241767989_?)del
|
|
|
NC_000014.8:g.(?_50750569)_(50750771_?)del
|
|
|
NC_000014.8:g.(?_50760813)_(50768906_?)del
|
|
|
NC_000014.8:g.(?_50778709)_(50778888_?)del
|
|
|
NC_000014.9:g.(?_50267733)_(50269350_?)del
|
|
|
NM_002168.4(IDH2):c.418C>G (p.Arg140Gly)
|
rs267606870
|
|
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)
|
rs483352911
|
|
NM_005984.5(SLC25A1):c.821+1G>A
|
rs781974501
|
|
NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)
|
rs431905509
|
|
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs)
|
rs1555328749
|
|
NM_024884.3(L2HGDH):c.1065-13_1196+207del
|
rs1889265791
|
|
NM_024884.3(L2HGDH):c.1081del (p.Ala361fs)
|
|
|
NM_024884.3(L2HGDH):c.1115del (p.Met372fs)
|
rs786200869
|
|
NM_024884.3(L2HGDH):c.140+726del
|
rs2139242065
|
|
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp)
|
rs118204021
|
|
NM_024884.3(L2HGDH):c.178G>A (p.Gly60Arg)
|
|
|
NM_024884.3(L2HGDH):c.1A>G (p.Met1Val)
|
rs1477101414
|
|
NM_024884.3(L2HGDH):c.241A>G (p.Lys81Glu)
|
|
|
NM_024884.3(L2HGDH):c.256+2T>A
|
|
|
NM_024884.3(L2HGDH):c.408+1G>C
|
rs2030438427
|
|
NM_024884.3(L2HGDH):c.465del (p.Gly156fs)
|
rs797045678
|
|
NM_024884.3(L2HGDH):c.530_533delinsATT (p.Pro177fs)
|
|
|
NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter)
|
rs1890096157
|
|
NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter)
|
|
|
NM_024884.3(L2HGDH):c.853del (p.Tyr285fs)
|
rs748910382
|
|
NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter)
|
rs1889521207
|
|
NM_024884.3(L2HGDH):c.906+1G>T
|
rs786200870
|
|
NM_024884.3(L2HGDH):c.944del (p.Phe315fs)
|
|
|
NM_024884.3(L2HGDH):c.959del (p.Asp320fs)
|
rs2139977488
|
|
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)
|
rs797045506
|
|
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr)
|
rs267606759
|
|
NM_152783.5(D2HGDH):c.1306+1del
|
rs2125158367
|
|
NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp)
|
rs121434362
|
|
NM_152783.5(D2HGDH):c.1353del (p.Ser452fs)
|
rs1559404382
|
|
NM_152783.5(D2HGDH):c.1393del (p.Thr465fs)
|
rs1699275754
|
|
NM_152783.5(D2HGDH):c.293-23A>G
|
rs145731647
|
|
NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)
|
|
|
NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser)
|
rs121434361
|
|
NM_152783.5(D2HGDH):c.642del (p.Arg215fs)
|
rs1559361049
|
|
NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)
|
|
|
NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)
|
|
|