NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)
|
rs1800431
|
0.87890
|
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
|
rs4777502
|
0.87885
|
NM_000405.5(GM2A):c.205A>G (p.Met69Val)
|
rs153478
|
0.73795
|
NM_000520.6(HEXA):c.*589T>G
|
rs11629508
|
0.73205
|
NM_000520.6(HEXA):c.*515G>A
|
rs3087652
|
0.73188
|
NM_000405.5(GM2A):c.*944T>C
|
rs149174
|
0.64518
|
NM_000405.5(GM2A):c.175A>G (p.Ile59Val)
|
rs153477
|
0.62259
|
NM_000521.4(HEXB):c.-126C>T
|
rs71627068
|
0.55186
|
NM_000521.4(HEXB):c.-122del
|
rs70976124
|
0.55177
|
NM_000405.5(GM2A):c.*227A>G
|
rs989
|
0.40371
|
NM_000405.5(GM2A):c.*2141C>T
|
rs153449
|
0.36881
|
NM_000405.4(GM2A):c.-102A>G
|
rs2277028
|
0.36620
|
NM_000405.5(GM2A):c.*1445G>A
|
rs153450
|
0.25029
|
NM_000405.5(GM2A):c.582A>G (p.Ter194=)
|
rs1048723
|
0.23979
|
NM_000405.5(GM2A):c.*1994A>G
|
rs12516391
|
0.21184
|
NM_000405.5(GM2A):c.*1866C>T
|
rs3806953
|
0.21159
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_000405.5(GM2A):c.*2849G>A
|
rs10076053
|
0.11816
|
NM_000405.5(GM2A):c.*938G>A
|
rs1130163
|
0.09731
|
NM_000405.5(GM2A):c.*144T>C
|
rs9324686
|
0.08805
|
NM_000405.5(GM2A):c.*28C>T
|
rs9324685
|
0.08802
|
NM_000405.5(GM2A):c.458T>C (p.Val153Ala)
|
rs61740602
|
0.07011
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)
|
rs1048719
|
0.03595
|
NM_000405.5(GM2A):c.*2801A>G
|
rs111935946
|
0.02697
|
NM_000405.5(GM2A):c.*401G>A
|
rs116809628
|
0.02370
|
NM_000405.5(GM2A):c.*1695C>A
|
rs115956086
|
0.01829
|
NM_000405.4(GM2A):c.-44G>A
|
rs144932594
|
0.01013
|
NM_000405.5(GM2A):c.*536G>T
|
rs151210034
|
0.00992
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_000405.5(GM2A):c.*824C>A
|
rs186626408
|
0.00796
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_000405.5(GM2A):c.*790C>T
|
rs181571430
|
0.00637
|
NM_000521.4(HEXB):c.276C>T (p.Thr92=)
|
rs140509633
|
0.00569
|
NM_000405.5(GM2A):c.*2430T>C
|
rs3734041
|
0.00252
|
NM_000405.5(GM2A):c.*2767C>T
|
rs117832237
|
0.00252
|
NM_000405.5(GM2A):c.*1829C>T
|
rs3806952
|
0.00250
|
NM_000405.5(GM2A):c.*1239dup
|
rs397883774
|
|
NM_000405.5(GM2A):c.*1274dup
|
rs397716595
|
|
NM_000405.5(GM2A):c.*2717_*2720del
|
rs35384604
|
|
NM_000405.5(GM2A):c.*376del
|
rs397712620
|
|
NM_000405.5(GM2A):c.*723dup
|
rs35982513
|
|