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Search Results: 5 unique variants retrieved
c.1174A>G
p.Asn392Asp (346)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31157
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1174_1176delAAC
p.Asn392del (346)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31157
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
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.1175_1176insAA
p.Asn392Lysfs*35 (346)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31158
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1175_1179delACAACinsG
p.Asn392Argfs*33 (346)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31158
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
5
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.1176C>T
p.Asn392Asn (346)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31159
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.