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  Search Results: 3 unique variants retrieved



  c.6910G>A
p.(Gly2304Arg) (Legacy AA No.2285)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6911G>A
p.(Gly2304Glu) (Legacy AA No.2285)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > GAA
Variant Effect:
Missense
Location:
Exon 26
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6911G>T
p.(Gly2304Val) (Legacy AA No.2285)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > GTA
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