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Search Results: 7 unique variants retrieved
c.721C>T
p.Gln241* (195)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20563
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 6.
Patient Information : Show
c.721C>A
p.Gln241Lys (195)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20563
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.722A>G
p.Gln241Arg (195)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20564
Mutation Effect:
Missense
Location:
Exon(6)
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.722delA
p.Gln241Argfs*4 (195)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
20564
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 (Deletion | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.723G>A
p.Gln241Gln (195)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20565
Mutation Effect:
Silent
Location:
Exon(6)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Silent) of mutation at Exon 6.
Patient Information : Show
c.723G>C
p.Gln241His (195)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20565
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.723G>T
p.Gln241His (195)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
20565
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.