Search Results: 6 unique variants retrieved
c.1228G>A
p.(Asp410Asn) (364)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1228
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.1228G>C
p.(Asp410His) (364)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1228
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.1228G>T
p.(Asp410Tyr) (364)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1228
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 :
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c.1229A>G
p.(Asp410Gly) (364)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1229
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.1229A>T
p.(Asp410Val) (364)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1229
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.1230T>G
p.(Asp410Glu) (364)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1230
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 :
Show