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Search Results: 6 unique variants retrieved
c.1003T>C
p.Cys335Arg (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30986
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1003T>A
p.Cys335Ser (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30986
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1004G>A
p.Cys335Tyr (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30987
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1004G>T
p.Cys335Phe (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30987
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.1004G>C
p.Cys335Ser (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30987
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1005C>G
p.Cys335Trp (289)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30988
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.