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Search Results: 5 unique variants retrieved
c.136A>T
p.Arg46Trp (0)
Mutation Type:
Point
Domain:
Pro-peptide
Nucleotide number:
6373
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.137G>A
p.Arg46Lys (-1)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6374
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.137G>C
p.Arg46Thr (-1)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6374
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.138G>T
p.Arg46Ser (-1)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6375
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.138G>C
p.Arg46Ser (-1)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
6375
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.