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Search Results: 6 unique variants retrieved
c.1305_1306delTG
p.Ala436Asnfs*19 (390)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31288
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
2
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.1306G>A
p.Ala436Thr (390)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31289
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1306G>T
p.Ala436Ser (390)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31289
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1306G>A
p.Ala436Thr (390)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31289
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.1307C>A
p.Ala436Glu (390)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31290
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1307C>T
p.Ala436Val (390)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31290
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
12
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.