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Search Results: 2 unique variants retrieved
c.148G>A
p.Gly50Ser (4)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6385
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
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Patient Information : Show
c.149G>C
p.Gly50Ala (4)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6386
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.