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Search Results: 4 unique variants retrieved
c.67C>A
p.Leu23Ile (-23)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
96
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.68T>C
p.Leu23Pro (-24)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
97
Mutation Effect:
Missense
Location:
Exon(1)
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.68del
p.Leu23Hisfs*? (-23)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
97
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 1.
Patient Information : Show
c.68delT
p.Leu23Hisfs*19 (-24)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
97
Mutation Effect:
Frameshift
Location:
Exon(1)
CpG:
-
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 1.