Search Results: 5 unique variants retrieved
c.277G>A
p.(Asp93Asn) (47)
Variant Type:
Point
Domain:
EGF1
cDNA number:
277
Variant Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.277G>C
p.(Asp93HIs) (47)
Variant Type:
Point
Domain:
EGF1
cDNA number:
277
Variant Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.278A>G
p.(Asp93Gly) (47)
Variant Type:
Point
Domain:
EGF1
cDNA number:
278
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.278A>T
p.(Asp93Val) (47)
Variant Type:
Point
Domain:
EGF1
cDNA number:
278
Variant Effect:
Missense
Location:
Exon(4)
CpG:
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.279T>A
p.(Asp93Glu) (47)
Variant Type:
Point
Domain:
EGF1
cDNA number:
279
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show