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Search Results: 4 unique variants retrieved
c.789_790insT
p.Thr264Tyrfs*7 (218)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
30104
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
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.790A>C
p.Thr264Pro (218)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30105
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
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.791C>T
p.Thr264Ile (218)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30106
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.792T>G
p.Thr264Thr (218)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30107
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.