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Search Results: 4 unique variants retrieved
c.219_220insA
p.Ala74Argfs*6 (28)
Mutation Type:
Insertion
Domain:
Gla
Nucleotide number:
6456
Mutation Effect:
Frameshift
Location:
Exon(2)
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 (Insertion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.220G>C
p.Ala74Pro (28)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6457
Mutation Effect:
Missense
Location:
Exon(2)
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.221C>G
p.Ala74Gly (28)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6458
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.221C>T
p.Ala74Val (28)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6458
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.