Search Results: 3 unique variants retrieved
c.1009G>C
p.(Ala337Pro) (291)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1009
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.1009G>A
p.(Ala337Thr) (291)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1009
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
10
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1010C>T
p.(Ala337Val) (291)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1010
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