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Search Results: 4 unique variants retrieved
c.947_948insT
p.Ala317Cysfs*22 (271)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
30930
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.949G>A
p.Ala317Thr (271)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30932
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.950C>A
p.Ala317Asp (271)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30933
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.950C>T
p.Ala317Val (271)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30933
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.