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Search Results: 3 unique variants retrieved
c.1260delA
p.Thr422Profs*4 (376)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31243
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.1265C>A
p.Thr422Asn (376)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31248
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.1265C>T
p.Thr422Ile (376)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31248
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.