Search Results: 5 unique variants retrieved
c.1294G>T
p.(Gly432Cys) (386)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1294
Variant Effect:
Missense
Location:
Exon(8)
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.1294G>A
p.(Gly432Ser) (386)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1294
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1295G>C
p.(Gly432Ala) (386)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1295
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.1295G>A
p.(Gly432Asp) (386)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1295
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1295G>T
p.(Gly432Val) (386)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1295
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