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Search Results: 2 unique variants retrieved


Variant No. 387
p.(Cys599Tyr) (Legacy AA No. 581)
Variant Type:
Point
Genomic:
27569G>A
Codon Change:
TGT TAT
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 388
p.(Cys599*) (Legacy AA No. 581)
Variant Type:
Point
Genomic:
27570T>A
Codon Change:
TGT TGA
Variant Effect:
Nonsense
Location:
Exon 15
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