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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PAX8 Q06710 p.Arg31His rs104893657 Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]
2k27
A
Detail
0.05 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )