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Search Results: 3 unique variants retrieved


Variant No. 297
p.(Ala430Ser) Legacy AA No. 412
Variant Type:
Point
Genomic:
23281G>T
Domain:
Serine Protease
Codon Change:
GCT > TCT
Variant Effect:
Missense
Location:
Exon (11)
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. 296
p.(Ala430Thr) Legacy AA No. 412
Variant Type:
Point
Genomic:
23281G>A
Domain:
Serine Protease
Codon Change:
GCT > ACT
Variant Effect:
Missense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
8
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. 298
p.(Ala430Val) Legacy AA No. 412
Variant Type:
Point
Genomic:
23282C>T
Domain:
Serine Protease
Codon Change:
GCT > GTT
Variant Effect:
Missense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show