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  Search Results: 4 unique variants retrieved



  c.7015A>T
p.(Arg2339Trp) (Legacy AA No.2320)
Variant Type:
Point
Domain:
C2
Sequence Context:
AGG > TGG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7016G>T
p.(Arg2339Met) (Legacy AA No.2320)
Variant Type:
Point
Domain:
C2
Sequence Context:
AGG > ATG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7016G>C
p.(Arg2339Thr) (Legacy AA No.2320)
Variant Type:
Point
Domain:
C2
Sequence Context:
AGG > ACG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7017G>T
p.(Arg2339Ser) (Legacy AA No.2320)
Variant Type:
Point
Domain:
C2
Sequence Context:
AGG > AGT
Variant Effect:
Missense
Location:
Exon 26
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