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Search Results: 2 unique variants retrieved


Variant No. 30
p.(Glu54Lys) (Legacy AA No. 14)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 2
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. 31
p.(Glu54Gly) (Legacy AA No. 14)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAA > GGA
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show