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  Search Results: 1 unique variant retrieved.



  c.3169G>A
p.(Glu1057Lys) (Legacy AA No.1038)
Variant Type:
Point
Domain:
B
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 14
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