1 | | g.IVS6-1G→C* | | 3′ splice site of intron 6 | | Active cryptic 3′ splice site† |
2 | | g.IVS9-1G→A* | | 3′ splice site of intron 9 | | Retention of intron 9† |
| | | | | | Skipping of exon 10† |
3 | | g.IVS10-9_c.1167dup16* | | 16 bp duplication comprising 8 bp at 3′ end of intron 10 and 8 bp at 5′ end of exon 11 | | Silencing of downstream 3′ splice site† |
4 | | c.1259_g.IVS11+15del23 | | 23 bp deletion comprising 8 bp at 3′ end of exon 11 and 15 bp at 5′ end of intron 11 | | Retention of intron 11‡ |
| | c.1033delG | | exon 10 (61st nucleotide) | | NA |
5 | | c.857G→T (p.R286M) | | G→T substitution at 3′ end of exon 8 | | Skipping of exon 8† |
| | c.734C→T (p.P245L§) | | exon 7 (193rd nucleotide) | | NA |