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Search Results: 2 unique variants retrieved


Variant No. 339
p.(Cys500Arg) (Legacy AA No. 482)
Variant Type:
Point
Genomic:
25469T>C
Codon Change:
TGC CGC
Variant Effect:
Missense
Location:
Exon 13
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


Variant No. 340
p.(Cys500Trp) (Legacy AA No. 482)
Variant Type:
Point
Genomic:
25471C>G
Codon Change:
TGC TGG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show