NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β
β
ββ2025β Residue 453
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β
β
ββ2025β Residue 660
NM_001206744.2(TPO):c.1993C>T (p.Arg665Trp)Pathogenic
not provided|TPO-related disorder|Deficiency of iodide peroxidase
β
β
ββ2025β Residue 665
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)Pathogenic
Deficiency of iodide peroxidase|not provided|TPO-related disorder
β
β
ββ2025β Residue 397
NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β
β
ββ2025β Residue 596
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β
β
ββ2025β Residue 757
NM_001206744.2(TPO):c.2422del (p.Cys808fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024β Residue 808
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter)Pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024β Residue 540
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β
β
ββ2024β Residue 17
NM_001206744.2(TPO):c.670_672del (p.Asp224del)Pathogenic
not provided|Deficiency of iodide peroxidase
β
β
ββ2024β Residue 224
NM_001206744.2(TPO):c.2141del (p.Phe714fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024β Residue 714
NM_001206744.2(TPO):c.2421dup (p.Cys808fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024β Residue 808
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter)Pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024β Residue 89
NM_001206744.2(TPO):c.1039G>T (p.Glu347Ter)Pathogenic
not provided|Deficiency of iodide peroxidase
β
β
ββ2024β Residue 347
NM_001206744.2(TPO):c.2314_2332del (p.Tyr772fs)Pathogenic
not provided|Deficiency of iodide peroxidase
β
β
ββ2024β Residue 772
NM_001206744.2(TPO):c.482+1G>ALikely pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024
NM_001206744.2(TPO):c.2688C>A (p.Cys896Ter)Pathogenic
not provided|Deficiency of iodide peroxidase
β
β
ββ2024β Residue 896
NM_001206744.2(TPO):c.387del (p.Asn129fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024β Residue 129
NM_001206744.2(TPO):c.2492T>G (p.Leu831Ter)Pathogenic
Deficiency of iodide peroxidase|not provided
β
β
ββ2024β Residue 831
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)Pathogenic
not provided|Deficiency of iodide peroxidase
β
β
ββ2024β Residue 860