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Search Results: 6 unique variants retrieved
c.968_971dup
p.Leu325Thrfs*15 (279)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
30951
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
4
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.973T>A
p.Leu325Ile (279)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30956
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.973T>G
p.Leu325Val (279)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30956
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.974T>C
p.Leu325Ser (279)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30957
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.974T>G
p.Leu325* (279)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30957
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.978_984delGCTAAACA
p.Leu325fs*? (279)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30961
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
8
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.