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Search Results: 6 unique variants retrieved
c.967G>T
p.Glu323* (277)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.967G>A
p.Glu323Lys (277)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.967_974delGAACCCTT
p.Glu323Serfs*13 (277)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
8
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.967G>A
p.Glu323Lys (277)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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.969_975delACCCTTA
p.Glu323fs*? (277)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30952
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
7
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.969A>G
p.Glu323Glu (277)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30952
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.