Search Results: 5 unique variants retrieved
c.1095delA
p.(Ala366Leufs*2) (320)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1095
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1096G>C
p.(Ala366Pro) (320)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1096
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.1097C>A
p.(Ala366Asp) (320)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1097
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
12
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1097C>G
p.(Ala366Gly) (320)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1097
Variant Effect:
Missense
Location:
Exon(8)
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.1097C>T
p.(Ala366Val) (320)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1097
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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