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Search Results: 2 unique variants retrieved
c.376_391del
p.Lys126Metfs*2 (80)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10490
Mutation Effect:
Frameshift
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
16
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.378G>T
p.Lys126Asn (80)
Mutation Type:
Polymorphism
Domain:
EGF1
Nucleotide number:
10492
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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