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Search Results: 2 unique variants retrieved


Variant No. 316
p.(Ile454Lys) (Legacy AA No. 436)
Variant Type:
Point
Genomic:
24731T>A
Codon Change:
ATA AAA
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 317
p.(Ile454Thr) (Legacy AA No. 436)
Variant Type:
Point
Genomic:
24731T>C
Codon Change:
ATA ACA
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show