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  Search Results: 5 unique variants retrieved



  c.361G>C
p.(Gly121Arg) (Legacy AA No.102)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > CGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.361G>T
p.(Gly121Cys) (Legacy AA No.102)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > TGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.361G>A
p.(Gly121Ser) (Legacy AA No.102)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.362G>C
p.(Gly121Ala) (Legacy AA No.102)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GCT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.362G>T
p.(Gly121Val) (Legacy AA No.102)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 3
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