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  Search Results: 3 unique variants retrieved



  c.6505C>T
p.(Arg2169Cys) (Legacy AA No.2150)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGT > TGT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
18
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6506G>A
p.(Arg2169His) (Legacy AA No.2150)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGT > CAT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
182
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6506G>T
p.(Arg2169Leu) (Legacy AA No.2150)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGT > CTT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show