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Search Results: 4 unique variants retrieved
c.813_814delTG
p.Gly272Cysfs*2 (226)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30128
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
-
No. of patients reported:
1
No. of bases:
2
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.813delT
p.Gly272Valfs*14 (226)
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.815G>A
p.Gly272Asp (226)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30130
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.816T>C
p.Gly272Gly (226)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30131
Mutation Effect:
Silent
Location:
Exon(7)
CpG:
-
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.