All variants included in this study arranged by cDNA position. The variant 286°C>T (R954*) was seen far more than any other variant, 61 times in this study. The figure has been truncated for legibility purposes. No other variant was seen more than seven times. Gene sequence and functional annotations data obtained from NCBI refseq, MANE isoform.³⁰ Black = nonsense or out-of-frame variations; orange = splice site mutation; brown = in-frame deletion; green = missense.