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Search Results: 4 unique variants retrieved
c.684_685insT
p.Gly229fsTrp*19 (183)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
20526
Mutation Effect:
Frameshift
Location:
Exon(6)
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 (Insertion | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.685G>A
p.Gly229Ser (183)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20527
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.686G>T
p.Gly229Val (183)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20528
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
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.687_689delTGG
p.Gly229del (183)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
20529
Mutation Effect:
Inframe
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 6.