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  Search Results: 5 unique variants retrieved



  c.6046C>G
p.(Arg2016Gly) (Legacy AA No.1997)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGG > GGG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6046C>T
p.(Arg2016Trp) (Legacy AA No.1997)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGG > TGG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
100
Allele Frequency (MAF):

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  c.6047G>A
p.(Arg2016Gln) (Legacy AA No.1997)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGG > CAG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

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  c.6047G>T
p.(Arg2016Leu) (Legacy AA No.1997)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGG > CTG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

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  c.6047G>C
p.(Arg2016Pro) (Legacy AA No.1997)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGG > CCG
Variant Effect:
Missense
Location:
Exon 19
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