Search Results: 6 unique variants retrieved
c.301C>G
p.(Pro101Ala) (55)
Variant Type:
Point
Domain:
EGF1
cDNA number:
301
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.301C>T
p.(Pro101Ser) (55)
Variant Type:
Point
Domain:
EGF1
cDNA number:
301
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.301C>A
p.(Pro101Thr) (55)
Variant Type:
Point
Domain:
EGF1
cDNA number:
301
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.302C>G
p.(Pro101Arg) (55)
Variant Type:
Point
Domain:
EGF1
cDNA number:
302
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.302C>A
p.(Pro101Gln) (55)
Variant Type:
Point
Domain:
EGF1
cDNA number:
302
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.302C>T
p.(Pro101Leu) (55)
Variant Type:
Point
Domain:
EGF1
cDNA number:
302
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