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Search Results: 6 unique variants retrieved
c.1219T>A
p.Cys407Ser (361)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31202
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.1219T>C
p.Cys407Arg (361)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31202
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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c.1219T>G
p.Cys407Gly (361)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31202
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1220G>A
p.Cys407Tyr (361)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31203
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.1220G>T
p.Cys407Phe (361)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31203
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1220delG
p.Cys407Phefs*19 (361)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31203
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.