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Search Results: 1 unique variant retrieved.


Variant No. 333
p.(Thr493Ile) Legacy AA No. 475
Variant Type:
Point
Genomic:
24848C>T
Domain:
Serine Protease
Codon Change:
ACA > ATA
Variant Effect:
Missense
Location:
Exon (12)
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show