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  Search Results: 3 unique variants retrieved



  c.6532C>T
p.(Arg2178Cys) (Legacy AA No.2159)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
93
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6533G>A
p.(Arg2178His) (Legacy AA No.2159)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
26
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6533G>T
p.(Arg2178Leu) (Legacy AA No.2159)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGC > CTC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
15
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show