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Mutations on the Protein: P16473 From Positions: 497 To 535

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Swiss-Prot Polymorphism: VAR_003572
p.ARG528HIS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_011533
p.GLY498SER
N/A
N/A
Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)


Swiss-Prot Polymorphism: VAR_011536
p.LEU512ARG
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_021497
p.LEU512GLN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_011537
p.PHE525LEU
N/A
N/A
Hypothyroidism, congenital, non-goitrous, 1 (CHNG1)


Swiss-Prot Disease: VAR_011534
p.SER505ARG
N/A
N/A
Hyperthyroidism, non-autoimmune (HTNA)


Swiss-Prot Disease: VAR_003571
p.SER505ASN
N/A
N/A
Hyperthyroidism, non-autoimmune (HTNA)


Swiss-Prot Disease: VAR_011535
p.VAL509ALA
N/A
N/A
Hyperthyroidism, non-autoimmune (HTNA)






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