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Search Results: 4 unique variants retrieved
c.63_64delAT
p.Tyr22fs*5 (-25)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
92
Mutation Effect:
Frameshift
Location:
Exon(1)
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 1.
Patient Information : Show
c.64T>G
p.Tyr22* (-25)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
93
Mutation Effect:
Nonsense
Location:
Exon(1)
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 1.
Patient Information : Show
c.65A>G
p.Tyr22Cys (-24)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
94
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.66T>A
p.Tyr22* (-25)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
95
Mutation Effect:
Nonsense
Location:
Exon(1)
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 1.