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Search Results: 6 unique variants retrieved
c.301C>A
p.Pro101Thr (55)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10415
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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c.301C>G
p.Pro101Ala (55)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10415
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
12
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.301C>T
p.Pro101Ser (55)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10415
Mutation Effect:
Missense
Location:
Exon(4)
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.302C>A
p.Pro101Gln (55)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10416
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.302C>G
p.Pro101Arg (55)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10416
Mutation Effect:
Missense
Location:
Exon(4)
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.302C>T
p.Pro101Leu (55)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10416
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.