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Search Results: 3 unique variants retrieved
c.88G>A
p.Val30Ile (-17)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
117
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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Patient Information : Show
c.88G>C
p.Val30Leu (-17)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
117
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.89T>A
p.Val30Asp (-16)
Mutation Type:
Polymorphism
Domain:
Pro-Peptide
Nucleotide number:
118
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.