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Search Results: 6 unique variants retrieved
c.328G>A
p.Asp110Asn (64)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10442
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.328G>T
p.Asp110Tyr (64)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10442
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.329A>T
p.Asp110Val (64)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10443
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.329A>G
p.Asp110Gly (64)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10443
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.
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c.330T>G
p.Asp110Glu (64)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10444
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.
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c.329_330delAT
p.Asp110Glyfs*3 (64)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10448
Mutation Effect:
Frameshift
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 4.