Search Results: 5 unique variants retrieved
c.304T>C
p.(Cys102Arg) (56)
Variant Type:
Point
Domain:
EGF1
cDNA number:
304
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.304T>A
p.(Cys102Ser) (56)
Variant Type:
Point
Domain:
EGF1
cDNA number:
304
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.305G>T
p.(Cys102Phe) (56)
Variant Type:
Point
Domain:
EGF1
cDNA number:
305
Variant Effect:
Missense
Location:
Exon(4)
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.305G>C
p.(Cys102Ser) (56)
Variant Type:
Point
Domain:
EGF1
cDNA number:
305
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.305G>A
p.(Cys102Tyr) (56)
Variant Type:
Point
Domain:
EGF1
cDNA number:
305
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show