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Search Results: 5 unique variants retrieved
c.904_906delCAC
p.His303del (257)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30887
Mutation Effect:
Inframe
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 (Deletion | Inframe) of mutation at Exon 8.
Patient Information : Show
c.907C>T
p.His303Tyr (257)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30890
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.907delC
p.His303Thrfs*23 (257)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30890
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.907C>T
p.His303Tyr (257)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30890
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.909delC
p.His303Glnfs*7 (257)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30892
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.