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  Search Results: 4 unique variants retrieved



  c.1420G>A
p.(Gly474Arg) (Legacy AA No.455)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGG > AGG
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1420G>T
p.(Gly474Trp) (Legacy AA No.455)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGG > TGG
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.1421G>A
p.(Gly474Glu) (Legacy AA No.455)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGG > GAG
Variant Effect:
Missense
Location:
Exon 9
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.1421G>T
p.(Gly474Val) (Legacy AA No.455)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGG > GTG
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