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Search Results: 5 unique variants retrieved
c.214G>A
p.Glu72Lys (26)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6451
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.214G>C
p.Glu72Gln (26)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6451
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.214G>T
p.Glu72* (26)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6451
Mutation Effect:
Nonsense
Location:
Exon(2)
CpG:
N
No. of patients reported:
4
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 2.
Patient Information : Show
c.215A>G
p.Glu72Gly (26)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6452
Mutation Effect:
Missense
Location:
Exon(2)
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.217_219delGAA
p.Glu72del (26)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6454
Mutation Effect:
Inframe
Location:
Exon(2)
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 (Deletion | Inframe) of mutation at Exon 2.