Search Results: 3 unique variants retrieved
c.250A>G
p.(Thr84Ala) Legacy AA 38
Variant Type:
Point
Domain:
Gla
cDNA number:
250
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.251C>G
p.(Thr84Arg) Legacy AA 38
Variant Type:
Point
Domain:
Gla
cDNA number:
251
Variant Effect:
Missense
Location:
Exon(2)
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.251C>T
p.(Thr84Ile) Legacy AA 38
Variant Type:
Point
Domain:
Gla
cDNA number:
251
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show