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Search Results: 2 unique variants retrieved


Variant No. 310
p.(Arg443Cys) Legacy AA No. 425
Variant Type:
Point
Genomic:
24697C>T
Domain:
Serine Protease
Codon Change:
CGT > TGT
Variant Effect:
Missense
Location:
Exon (12)
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 311
p.(Arg443His) Legacy AA No. 425
Variant Type:
Point
Genomic:
24698G>A
Domain:
Serine Protease
Codon Change:
CGT > CAT
Variant Effect:
Missense
Location:
Exon (12)
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 structural information available.

Individual Case Information : Show