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  Search Results: 3 unique variants retrieved



  c.2071C>T
p.(Pro691Ser) (Legacy AA No.672)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > TCA
Variant Effect:
Missense
Location:
Exon 13
No of bases:
No. of cases reported:
10
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.2071C>A
p.(Pro691Thr) (Legacy AA No.672)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > ACA
Variant Effect:
Missense
Location:
Exon 13
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.2072C>T
p.(Pro691Leu) (Legacy AA No.672)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show