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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PMM2 O15305 p.Thr226Ser rs80338706 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
2amy
A
Detail
0.06 (T)
0.961 (D)
D ( Predicted by rules : 1 )