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  Search Results: 3 unique variants retrieved



  c.265G>A
p.(Gly89Ser) (Legacy AA No.70)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.266G>C
p.(Gly89Ala ) (Legacy AA No.70)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GCT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.266G>A
p.(Gly89Asp) (Legacy AA No.70)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show