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Search Results: 3 unique variants retrieved


Variant No. 348
p.(Trp519*) Legacy AA No. 501
Variant Type:
Point
Genomic:
25527G>A
Domain:
Serine Protease
Codon Change:
TGG > TAG
Variant Effect:
Missense
Location:
Exon (13)
No of bases:
1
No. of cases reported:
25
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 349
p.(Trp519Ser) Legacy AA No. 501
Variant Type:
Point
Genomic:
25527G>C
Domain:
Serine Protease
Codon Change:
TGG > TCG
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

Variant No. 350
p.(Trp519Cys) Legacy AA No. 501
Variant Type:
Point
Genomic:
25528G>C
Domain:
Serine Protease
Codon Change:
TGG > TGC
Variant Effect:
Missense
Location:
Exon (13)
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show