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Search Results: 6 unique variants retrieved
c.957_958delGGinsC
p.Glu320Asnfs*6 (274)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
30940
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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 (Indel | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.958G>T
p.Glu320* (274)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30941
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.959A>G
p.Glu320Gly (274)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30942
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.960A>C
p.Glu320Asp (274)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30943
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
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.960delA
p.Glu320Aspfs*6 (274)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30943
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.960A>C
p.Glu320Asp (274)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30943
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.