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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 SLC25A4 P12235 p.Leu98Pro rs104893876 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]
2c3e
A
Detail
0.04 (D)
0.118 (N)
D ( Predicted by rules : 1 )