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Search Results: 4 unique variants retrieved
c.1372_1374delACA
p.Thr458del (412)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31355
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.1372delA
p.Glu456fs*? (412)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31355
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
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.1372dupA
p.Thr458Asnfs*18 (412)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
31355
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 (Duplication | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1373C>A
p.Thr458Lys (412)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31356
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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