Variant Exon Exon length (bp) Location in exon (bp) a BDGP HSF
c.602G>A p.Gly201Asp 5 140 1 3′AS: 0.83→0.57 (31.33%) b NA
c.602G>T p.Gly201Val 5 140 1 3′AS: 0.83→0.35 (57.83%) b NA
c.1452C>G p.Cys484Trp 12 124 9 NA -9 c
c.1567G>A p.Ala523Thr 12 124 -1 5′DS: 1.00→0.45 (55%) b NA
c.1667C>T p.Pro556Leu 13 102 -3 NA -9 c
c.1925G>A p.Arg642His 15 100 -1 5′DS: 0.99→0.68 (31.31%) b Broken WT DS
c.2548G>C p.Gly850Arg 21 102 -1 5′DS: 0.85→0.22 (74.12%) b Broken WT DS
c.2549G>C p.Gly850Ala 22 112 1 3′AS: 0.52→NA NA
c.2755A>T p.Arg919Trp 24 136 8 NA -8 c
c.2863A>T p.Ile955Phe 24 136 -21 NA -10 c