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  Search Results: 3 unique variants retrieved



  c.841A>C
p.(Thr281Pro) (Legacy AA No.262)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACC > CCC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.842C>A
p.(Thr281Asn) (Legacy AA No.262)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACC > AAC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.842C>T
p.(Thr281Ile) (Legacy AA No.262)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACC > ATC
Variant Effect:
Missense
Location:
Exon 7
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