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Search Results: 2 unique variants retrieved


Variant No. 88
p.(Gly244Arg) (Legacy AA No. 204)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGG > AGG
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
14
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 89
p.(Gly244Glu) (Legacy AA No. 204)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGG > GAG
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show