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Search Results: 2 unique variants retrieved


Variant No. 61
p.(Gln138Arg) (Legacy AA No. 98)
Variant Type:
Point
Domain:
EGF2
Sequence Context:
CAG > CGG
Variant Effect:
Missense
Location:
Exon 5
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


Variant No. 62
p.(Gln138Leu) (Legacy AA No. 98)
Variant Type:
Point
Domain:
EGF2
Sequence Context:
CAG > CTG
Variant Effect:
Missense
Location:
Exon 5
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