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Search Results: 2 unique variants retrieved
c.922delG
p.Ala308Leufs*18 (262)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30905
Mutation Effect:
Frameshift
Location:
Exon(8)
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 8.
Patient Information : Show
c.923C>T
p.Ala308Val (262)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30906
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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