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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 POLG2 Q9UHN1 p.Gly451Glu rs104894632 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]
2g4c
C
Detail
0.08 (T)
1 (D)
N