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Search Results: 3 unique variants retrieved
c.76_77delGinsAGATATCCTAAA
p.Ala26Argfs*14 (-21)
Mutation Type:
Indel
Domain:
Signal Peptide
Nucleotide number:
105
Mutation Effect:
Frameshift
Location:
Exon(1)
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 (Indel | Frameshift) of mutation at Exon 1.
Patient Information : Show
c.77C>A
p.Ala26Asp (-21)
Mutation Type:
Point
Domain:
Signal Peptide
Nucleotide number:
106
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.78_81delTGAA
p.Ala26Alafs*15 (-21)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
107
Mutation Effect:
Frameshift
Location:
Exon(1)
CpG:
N
No. of patients reported:
2
No. of bases:
4
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 1.