Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 PMM2 O15305 p.Gly117Arg rs104894530 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
2amy
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )