Search Results: 5 unique variants retrieved
c.1240C>T
p.(Pro414Ser) (368)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1240
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1240C>A
p.(Pro414Thr) (368)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1240
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
13
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1241C>G
p.(Pro414Arg) (368)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1241
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.1241C>A
p.(Pro414His) (368)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1241
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.1241C>T
p.(Pro414Leu) (368)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1241
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 :
Show