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  Search Results: 3 unique variants retrieved



  c.6481C>A
p.(Pro2161Thr) (Legacy AA No.2142)
Variant Type:
Point
Domain:
C1
Sequence Context:
CCT > ACT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6482C>A
p.(Pro2161His) (Legacy AA No.2142)
Variant Type:
Point
Domain:
C1
Sequence Context:
CCT > CAT
Variant Effect:
Missense
Location:
Exon 23
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.6482C>T
p.(Pro2161Leu) (Legacy AA No.2142)
Variant Type:
Point
Domain:
C1
Sequence Context:
CCT > CTT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show