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  Search Results: 4 unique variants retrieved



  c.1432G>A
p.(Asp478Asn) (Legacy AA No.459)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > AAC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1433A>G
p.(Asp478Ala) (Legacy AA No.459)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > GGC
Variant Effect:
Missense
Location:
Exon 9
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.1433A>G
p.(Asp478Gly) (Legacy AA No.459)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > GGC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1434C>A
p.(Asp478Glu) (Legacy AA No.459)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > GAA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show