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Search Results: 4 unique variants retrieved
c.1246dupG
p.Val416Glyfs*3 (370)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
31229
Mutation Effect:
Frameshift
Location:
Exon(8)
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 (Duplication | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1246G>A
p.Val416Ile (370)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31229
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.1247_1252del
p.Val416_Thr417del (370)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31230
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
6
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 8.
Patient Information : Show
c.1248T>C
p.Val416Val (370)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31231
Mutation Effect:
Silent
Location:
Exon(8)
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 8.