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Search Results: 10 unique variants retrieved
c.1229_1232dup
p.Ser411Argfs*2 (365)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
31212
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
4
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1230delinsCG
p.Ser411delinsGly (365)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31213
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
2
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.1231A>C
p.Ser411Arg (365)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31214
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1231A>G
p.Ser411Gly (365)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31214
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1232G>C
p.Ser411Thr (365)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31215
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1232G>A
p.Ser411Asn (365)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31215
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1232G>T
p.Ser411Ile (365)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31215
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1232_1234delGTGinsTT
p.Ser411Ilefs*15 (365)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31215
Mutation Effect:
Frameshift
Location:
Exon(8)
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 (Indel | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1233T>A
p.Ser411Arg (365)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31216
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1233T>G
p.Ser411Arg (365)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31216
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.