alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Exon/Intron = 'Intron 17'
Exon/Intron
1 - 2 of 2
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
2165
c.2165+1G>T
p.Thr683Argfs*12
p.Trp714Cys_Ser715Gly722del8
Splice
Intron 17
2
2
2165
c.2165+1G>A
p.Thr683Argfs*12
p.Trp714Cys_Ser715Gly722del8
Splice
Intron 17
2
4
1 - 2 of 2
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Primary Mutation Type Distribution