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  Search Results: 4 unique variants retrieved



  c.2149C>T
p.(Arg717Trp) (Legacy AA No.698)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > TGG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
54
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.2150G>A
p.(Arg717Gln) (Legacy AA No.698)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > CAG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
12
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.2150G>T
p.(Arg717Leu) (Legacy AA No.698)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > CTG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.2150G>C
p.(Arg717Pro) (Legacy AA No.698)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > CCG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show