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Search Results: 5 unique variants retrieved
c.1254delA
p.Val419Trpfs*7 (373)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31237
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1255G>A
p.Val419Met (373)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31238
Mutation Effect:
Missense
Location:
Exon(8)
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.1256T>A
p.Val319Glu (373)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31239
Mutation Effect:
Missense
Location:
Exon(8)
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.1256T>G
p.Val419Gly (373)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31239
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1257G>T
p.Val419Val (373)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31240
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 8.