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  Search Results: 3 unique variants retrieved



  c.1696C>T
p.(Leu566Phe) (Legacy AA No.547)
Variant Type:
Point
Domain:
A2
Sequence Context:
CTC > TTC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
10
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1696C>G
p.(Leu566Val) (Legacy AA No.547)
Variant Type:
Point
Domain:
A2
Sequence Context:
CTC > GTC
Variant Effect:
Missense
Location:
Exon 11
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


  c.1697T>G
p.(Leu566Arg) (Legacy AA No.547)
Variant Type:
Point
Domain:
A2
Sequence Context:
CTC > CGC
Variant Effect:
Missense
Location:
Exon 11
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