Search Results: 4 unique variants retrieved
c.1242_1244delinsAAT
p.(His415Ile) (369)
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1242
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
-
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Inframe) of variant at Exon 8.
Individual Case Information :
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c.1243C>A
p.(His415Asn) (369)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1243
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.1244A>G
p.(His415Arg) (369)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1244
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
7
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1245T>A
p.(His415Gln) (369)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1245
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