Fig. 12

Mutations identified by WES and verified by conventional sequencing. A LOXHD1 missense mutation c.3124G > A; p.Val1042Ile in Jed81_MT. B ERBB4 missense mutation c.257A > T; p.Tyr86Phe in Jed82_MT. C CASP7 frameshift (fs) mutation c.128_130delTTTinsT; p.Leu44SerfsTer70 in Jed89_MT. Asterisks mark missense and frameshift/homozygous deletion mutations, respectively. Sequence reactions from the reverse strand are shown in sense strand view