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  Search Results: 2 unique variants retrieved



  c.88G>A
p.(Glu30Lys) (Legacy AA No.11)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.89A>T
p.(Glu30Val) (Legacy AA No.11)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GTA
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show