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Search Results: 2 unique variants retrieved
c.985delA
p.Ser329Alafs*25 (283)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30968
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
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.987C>G
p.Ser329Arg (283)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30970
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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