Search Results: 4 unique variants retrieved
c.948dup
p.(Ala317Cysfs*22) Legacy AA 271
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
948
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.949G>A
p.(Ala317Thr) Legacy AA 271
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
949
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.950C>A
p.(Ala317Asp) Legacy AA 271
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
950
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.950C>T
p.(Ala317Val) Legacy AA 271
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
950
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
9
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show