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Search Results: 4 unique variants retrieved
c.781T>C
p.Trp261Arg (215)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30096
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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c.781T>G
p.Trp261Gly (215)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30096
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.782G>A
p.Trp261* (215)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30097
Mutation Effect:
Nonsense
Location:
Exon(7)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 7.
Patient Information : Show
c.783G>T
p.Trp261Cys (215)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30098
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.