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Search Results: 3 unique variants retrieved
c.1009G>A
p.Ala337Thr (291)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30992
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
9
No. of bases:
1
Structural Information
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Patient Information : Show
c.1009G>C
p.Ala337Pro (291)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30992
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.1010C>T
p.Ala337Val (291)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30993
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.