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Search Results: 7 unique variants retrieved
c.82T>C
p.Cys28Arg (-19)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
111
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
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c.82T>G
p.Cys28Gly (-19)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
111
Mutation Effect:
Missense
Location:
Exon(1)
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.
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c.83G>A
p.Cys28Tyr (-19)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
112
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
14
No. of bases:
1
Structural Information
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c.83delG
p.Cys28Leufs*14 (-19)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
112
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.84T>G
p.Cys28Trp (-19)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
113
Mutation Effect:
Missense
Location:
Exon(1)
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.84T>A
p.Cys28* (-19)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
113
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.85_88+6delACAGGTTTGT
p.Cys28fs*? (-19)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
114
Mutation Effect:
Splice
Location:
Exon(1)
CpG:
N
No. of patients reported:
2
No. of bases:
10
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Splice) of mutation at Exon 1.