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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 FHL1 Q13642 p.Cys132Phe rs122458143 X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
2cup
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 )