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Search Results: 5 unique variants retrieved
c.1242delinsAAT
p.Pro414_His415delins GlnTyr (369)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31225
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
-
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Inframe) of mutation at Exon 8.
Patient Information : Show
c.1243C>A
p.His415Asn (369)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31226
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1243delC
p.His415Metfs*11 (369)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31226
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
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.1244A>G
p.His415Arg (369)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31227
Mutation Effect:
Missense
Location:
Exon(8)
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.1245T>A
p.His415Gln (369)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31228
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.