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Search Results: 4 unique variants retrieved
c.880C>T
p.Arg294* (248)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30863
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
95
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 8.
Patient Information : Show
c.880C>G
p.Arg294Gly (248)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30863
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.881G>T
p.Arg294Leu (248)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30864
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
5
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.881G>A
p.Arg294Gln (248)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30864
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of patients reported:
114
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
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,
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