Figure 1 Distribution of CHD7 mutations identified in the 69 CHARGE syndrome patients. Coding exons are indicated in black bars, whereas the non‐coding sequences are indicated in grey. Mutations are schematically shown above the exons in which they are located. Nonsense mutations are represented by • (n = 31), missense mutations by ▪ (n = 8), frameshift mutations by ⧫ (n = 17), and splice site mutations by ▴ (n = 13), respectively.