Table 2

 Four previously reported splice site mutations in CHRNE

MutationPosition on genomic DNASplicing consequence
g.IVS4-2A→C43′ splice site of intron 4Skipping of exon 5
g.IVS6+1G→T195′ splice site of intron 6Skipping of exon 6
g.IVS7+2T→C205′ splice site of intron 7Retention of intron 7
g.IVS10+2T→G215′ splice site of intron 10Skipping of exon 10