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Search Results: 8 unique variants retrieved
c.799C>T
p.His267Tyr (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30114
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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c.799delC
p.His267Thrfs*30 (221)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30114
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 7.
Patient Information : Show
c.800A>G
p.His267Arg (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30115
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.800A>C
p.His267Pro (221)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30115
Mutation Effect:
Missense
Location:
Exon(7)
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.800A>T
p.His267Leu (221)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30115
Mutation Effect:
Missense
Location:
Exon(7)
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.801C>A
p.His267Gln (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30116
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.801C>G
p.His267Gln (221)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30116
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
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.801C>G
p.His267Gln (221)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30116
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.