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Search Results: 2 unique variants retrieved


Variant No. 159
p.(Asp408Asn) (Legacy AA No. 368)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAC > AAC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 158
p.(Asp408del) (Legacy AA No. 368)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 8
No of bases:
3
No. of cases reported:
3
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show