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 20'
Exon/Intron
1 - 4 of 4
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
2436
c.2436+1G>A
p.Asp786_Met812del27
Splice
Intron 20
1
2
2436
c.2436+5G>A
p.Asp786_Met812del27
Splice
Intron 20
1
1
2436
c.2436+408del11022
Large deletion
Intron 20
1
2
2437
c.2437-2A>G
p.His814Leufs*41
Splice
Intron 20
1
2
1 - 4 of 4
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Primary Mutation Type Distribution