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Search Results: 6 unique variants retrieved
c.862G>T
p.Glu288* (242)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30845
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
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.862_863delGA
p.Glu288Thrfs*22 (242)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30845
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.862delG
p.Glu288Asnfs*9 (242)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30845
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.863delA
p.Glu288fs (242)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30846
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.863_865delAACinsCA
p.Glu288Alafs*9 (242)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
30846
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
3
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.863A>G
p.Glu288Gly (242)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30846
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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