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Search Results: 2 unique variants retrieved


Variant No. 310
p.(Arg443Cys) (Legacy AA No. 425)
Variant Type:
Point
Genomic:
24697C>T
Codon Change:
CGT TGT
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 311
p.(Arg443His) (Legacy AA No. 425)
Variant Type:
Point
Genomic:
24698G>A
Codon Change:
CGT CAT
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show