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  Search Results: 3 unique variants retrieved



  c.295G>T
p.(Val99Phe) (Legacy AA No.80)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTT > TTT
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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  c.296T>C
p.(Val99Ala) (Legacy AA No.80)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTT > GCT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.296T>A
p.(Val99Asp) (Legacy AA No.80)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTT > GAT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show