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Search Results: 2 unique variants retrieved


Variant No. 58
p.(Pro66Ser) (Legacy AA No. 48)
Variant Type:
Point
Genomic:
10786C>T
Codon Change:
CCA TCA
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 59
p.(Pro66Leu) (Legacy AA No. 48)
Variant Type:
Point
Genomic:
10787C>T
Codon Change:
CCA CTA
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show