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Search Results: 3 unique variants retrieved
c.1222C>T
p.Gln408* (362)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31205
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1223A>C
p.Gln408Pro (362)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31206
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.1223_1225delAAG
p.Glu408del (362)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31206
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
-
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.