In Depth Variant Analysis:  c.1562A>G (p.Tyr521Cys)
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c.1562A>G
p.Tyr521Cys (Legacy AA No. 503)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
U
Allele Count *: 
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Allele Number *: 
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Allele Frequency *: 
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Variant Comments & Reference:
Su et al 2018Residue Information:
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Substitution Analysis:
Structural Implications:
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