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Search Results: 8 unique variants retrieved
c.322T>A
p.Cys108Ser (62)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10436
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.322delT
p.Cys108Alafs*23 (62)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10436
Mutation Effect:
Frameshift
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
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 4.
Patient Information : Show
c.322dupT
p.Cys108fs*? (62)
Mutation Type:
Duplication
Domain:
EGF1
Nucleotide number:
10436
Mutation Effect:
Frameshift
Location:
Exon(4)
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 (Duplication | Frameshift) of mutation at Exon 4.
Patient Information : Show
c.323G>A
p.Cys108Tyr (62)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10437
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.323G>C
p.Cys108Ser (62)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10437
Mutation Effect:
Missense
Location:
Exon(4)
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.323G>T
p.Cys108Phe (62)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10437
Mutation Effect:
Missense
Location:
Exon(4)
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.324C>A
p.Cys108* (62)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10438
Mutation Effect:
Nonsense
Location:
Exon(4)
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 4.
Patient Information : Show
c.324C>G
p.Cys108Trp (62)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10438
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.