FIG. 4.

Heterozygous c.427C>T (p.R143W) mutations were misgenotyped as homozygous by MPS because the c.299_300del mutations were located at the 3′ end of the amplicon. Upper figure indicated the position of c.299_300del, c.427C>T mutations and AmpliSeq primers. c.299_300del mutations were located in 3′ end of PCR primer of Amplicon A marked by asterisk. As a result, all of Amplicon A was produced from the allele with c.427C>T mutation and misgenotyped as a homozygous mutation illustrated in lower figure.