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  Search Results: 3 unique variants retrieved



  c.1042T>C
p.(Cys348Arg) (Legacy AA No.329)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGT > CGT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1043G>C
p.(Cys348Ser) (Legacy AA No.329)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGT > TCT
Variant Effect:
Missense
Location:
Exon 8
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


  c.1043G>A
p.(Cys348Tyr) (Legacy AA No.329)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGT > TAT
Variant Effect:
Missense
Location:
Exon 8
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