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Search Results: 3 unique variants retrieved
c.1157C>G
p.Thr386Arg (340)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31140
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.1157C>T
p.Thr386Ile (340)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31140
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1157C>A
p.Thr386Lys (340)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31140
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.