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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 TGFB1 P01137 p.Arg218Cys rs104894721 Camurati-Engelmann disease (CE) [MIM:131300]
3rjr
C
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )