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  Search Results: 6 unique variants retrieved



  c.1170C>T
p.(Arg391Cys) (Legacy AA No.372)
Variant Type:
Point
Domain:
a1
Sequence Context:
CGC > TGC
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.1171C>T
p.(Arg391Cys) (Legacy AA No.372)
Variant Type:
Point
Domain:
a1
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
32
Allele Frequency (MAF):

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  c.1171C>G
p.(Arg391Gly) (Legacy AA No.372)
Variant Type:
Point
Domain:
a1
Sequence Context:
CGC > GGC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

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  c.1172G>A
p.(Arg391His) (Legacy AA No.372)
Variant Type:
Point
Domain:
a1
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
48
Allele Frequency (MAF):

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  c.1172G>T
p.(Arg391Leu) (Legacy AA No.372)
Variant Type:
Point
Domain:
a1
Sequence Context:
CGC > CTC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

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  c.1172G>C
p.(Arg391Pro) (Legacy AA No.372)
Variant Type:
Point
Domain:
a1
Sequence Context:
CGC > CCC
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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Individual Case Information : Show