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Search Results: 2 unique variants retrieved


Variant No. 339
p.(Cys500Arg) Legacy AA No. 482
Variant Type:
Point
Genomic:
25469T>C
Domain:
Serine Protease
Codon Change:
TGC > CGC
Variant Effect:
Missense
Location:
Exon (13)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 340
p.(Cys500Trp) Legacy AA No. 482
Variant Type:
Point
Genomic:
25471C>G
Domain:
Serine Protease
Codon Change:
TGC > TGG
Variant Effect:
Missense
Location:
Exon (13)
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show