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  Search Results: 3 unique variants retrieved



  c.6718C>A
p.(Pro2240Thr) (Legacy AA No.2221)
Variant Type:
Point
Domain:
C2
Sequence Context:
CCT > ACT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6719C>G
p.(Pro2240Arg) (Legacy AA No.2221)
Variant Type:
Point
Domain:
C2
Sequence Context:
CCT > CGT
Variant Effect:
Missense
Location:
Exon 24
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


  c.6719C>T
p.(Pro2240Leu) (Legacy AA No.2221)
Variant Type:
Point
Domain:
C2
Sequence Context:
CCT > CTT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show