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Search Results: 3 unique variants retrieved
c.1270T>C
p.Phe424Leu (378)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31253
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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Patient Information : Show
c.1270T>G
p.Phe424Val (378)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31253
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1271T>C
p.Phe424Ser (378)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31254
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.