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Search Results: 3 unique variants retrieved
c.727_728delG
p.Val243Phefs*2 (197)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30042
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 7.
Patient Information : Show
c.727_728delGTinsA
p.Val243Ilefs*2 (197)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
30042
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Frameshift) of mutation at Exon 7.
Patient Information : Show
c.728T>A
p.Val243Asp (197)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30043
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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