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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 KRT14 P02533 p.Arg125Cys rs60399023 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
Detail
0.03 (D)
1 (D)
N
2 KRT14 P02533 p.Arg125Gly rs60399023 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]
Detail
0.00 (D)
1 (D)
N