ERCC8 and chromosome-type aberration frequency: 1041 + 1 G > T, c.1122 + 1delG, c.842-843 + 1delinsCTA and c.618-2 A > G17–22.To date, about 40 types of mutations were found in ERCC8 that cause CS-A in different populations, including 15 point mutations (missense and nonsense mutations), 10 splicing mutations, 3 small deletions mutations, 2 small insertion mutations, 3 small indel mutations, 5 gross deletion/duplication mutations and 1 complex rearrangement mutation, which are summarized in Fig. 44,5,15–28.