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 10'
Exon/Intron
1 - 4 of 4
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1309
c.1309+34C>A
(intronic)
Benign
Intron 10
1309
c.1309+1G>T
p.Val411Metfs*40
Splice
Intron 10
1
1
1310
c.1310-2A>G
Not expressed
Splice
Intron 10
1
1
1310
c.1310-22T>C
(intronic)
Benign
Intron 10
1 - 4 of 4
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Primary Mutation Type Distribution