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  Search Results: 4 unique variants retrieved



  c.1735G>C
p.(Asp579His) (Legacy AA No.560)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > CAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1736A>C
p.(Asp579Ala) (Legacy AA No.560)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GCT
Variant Effect:
Missense
Location:
Exon 11
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.1736A>G
p.(Asp579Gly) (Legacy AA No.560)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1736A>T
p.(Asp579Val) (Legacy AA No.560)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GTT
Variant Effect:
Missense
Location:
Exon 11
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