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Search Results: 3 unique variants retrieved
c.1366_1367insA
p.Thr461Asnfs*? (415)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31349
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 (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1367delA
p.Thr461Glnfs*? (415)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31350
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.1381A>C
p.Thr461Pro (415)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31364
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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