Search Results: 5 unique variants retrieved
c.1003T>C
p.(Cys335Arg) (289)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1003
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1003T>A
p.(Cys335Ser) (289)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1003
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1004G>T
p.(Cys335Phe) (289)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1004
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1004G>C
p.(Cys335Ser) (289)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1004
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1004G>A
p.(Cys335Tyr) (289)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1004
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show