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Search Results: 3 unique variants retrieved
c.470_495dupGTACTGAGGGATATCGACTTGCAGAA
p.Asn166Valfs*45 (120)
Mutation Type:
Duplication
Domain:
EGF2
Nucleotide number:
17748
Mutation Effect:
Frameshift
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
26
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 5.
Patient Information : Show
c.496A>T
p.Asn166Tyr (120)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17773
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.496delA
p.Asn166Thrfs*37 (120)
Mutation Type:
Deletion
Domain:
EGF2
Nucleotide number:
17773
Mutation Effect:
Frameshift
Location:
Exon(5)
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 5.