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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 EIF2B5 Q13144 p.Arg315Cys rs113994063 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM [MIM:603896#0000]
Detail
0.05 (T)
0.999 (D)
N
2 EIF2B5 Q13144 p.Arg315Gly rs113994063 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Detail
0.43 (T)
0.343 (N)
N