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Search Results: 8 unique variants retrieved
c.1220delG
p.Cys410Phefs*? (364)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31203
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1228G>A
p.Asp410Asn (364)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31211
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.1228G>C
p.Asp410His (364)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31211
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.1228G>T
p.Asp410Tyr (364)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31211
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1229A>G
p.Asp410Gly (364)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31212
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.1229A>T
p.Asp410Val (364)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31212
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.1229_1230insATAG
p.Asp410Glufs*2 (364)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31212
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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 (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1230T>G
p.Asp410Glu (364)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31213
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.