Search Results: 6 unique variants retrieved
c.799delC
p.(His267Thrfs*30) (221)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
799
Variant Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 7.
Individual Case Information :
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c.799C>T
p.(His267Tyr) (221)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
799
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.800A>G
p.(His267Arg) (221)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
800
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.800A>T
p.(His267Leu) (221)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
800
Variant Effect:
Missense
Location:
Exon(7)
CpG:
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.801C>G
p.(His267Gln) (221)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
801
Variant Effect:
Missense
Location:
Exon(7)
CpG:
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.801C>A
p.(His267Gln) (221)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
801
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show