Search Results: 6 unique variants retrieved
c.349T>C
p.(Cys117Arg) (71)
Variant Type:
Point
Domain:
EGF1
cDNA number:
349
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.349T>A
p.(Cys117Ser) (71)
Variant Type:
Point
Domain:
EGF1
cDNA number:
349
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.350G>T
p.(Cys117Phe) (71)
Variant Type:
Point
Domain:
EGF1
cDNA number:
350
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
c.350G>C
p.(Cys117Ser) (71)
Variant Type:
Point
Domain:
EGF1
cDNA number:
350
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.350G>A
p.(Cys117Tyr) (71)
Variant Type:
Point
Domain:
EGF1
cDNA number:
350
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
c.351T>G
p.(Cys117Trp) (71)
Variant Type:
Point
Domain:
EGF1
cDNA number:
351
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