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Search Results: 5 unique variants retrieved
c.810_811insG
p.Thr271Aspfs*4 (225)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
30125
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 7.
Patient Information : Show
c.812C>G
p.Thr271Ser (225)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30127
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.812C>T
p.Thr271Ile (225)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30127
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.813delT
p.Thr271Thrfs*26 (225)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30128
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
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.813T>C
p.Thr271Thr (225)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30128
Mutation Effect:
Silent
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Polymorphism | Silent) of mutation at Exon 7.