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Search Results: 2 unique variants retrieved


Variant No. 43
p.(Glu72Gln) (Legacy AA No. 32)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > CAG
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 44
p.(Glu72Asp) (Legacy AA No. 32)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > GAC
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show