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 14'
Exon/Intron
1 - 3 of 3
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1830
c.1830+1G>A
No experimental data
Splice
Intron 14
1
1
1830
c.1830+1G>C
p.Val549_Glu610del
Splice
Intron 14
20
22
1831
c.1831-2A>G
p.His611Glyfs*3
Splice
Intron 14
4
6
1 - 3 of 3
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Primary Mutation Type Distribution