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Search Results: 3 unique variants retrieved
c.793G>A
p.Ala265Thr (219)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30108
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.793G>C
p.Ala265Pro (219)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30108
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.794C>A
p.Ala265Asp (219)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30109
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.