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  Search Results: 5 unique variants retrieved



  c.7030G>C
p.(Gly2344Arg) (Legacy AA No.2325)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGC > CGC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7030G>T
p.(Gly2344Cys) (Legacy AA No.2325)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGC > TGC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

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  c.7030G>A
p.(Gly2344Ser) (Legacy AA No.2325)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

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  c.7031G>C
p.(Gly2344Ala) (Legacy AA No.2325)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGC > GCC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

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  c.7031G>A
p.(Gly2344Asp) (Legacy AA No.2325)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGC > GAC
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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Individual Case Information : Show