NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)
|
rs782315572
|
0.00001
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer)
|
rs2124006012
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)
|
rs1967945316
|
|
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs)
|
rs750785552
|
|
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly)
|
rs2148329856
|
|
NM_001739.2(CA5A):c.618+1G>T
|
|
|
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
|
|
|
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
|
|
|
NM_005327.7(HADH):c.166_169del (p.Val56fs)
|
|
|
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)
|
rs1804568176
|
|