Table 1 Reported mutated types of HAHD gene in SCHAD-HI patients

Missense/nonsense

p.R10P (c.29G > C)

p.I184F(c.550A > T)

p.V30E (c.89T > A)

p.Y226H(c.676 T > C)

p.G34A (c.100G > C)

p.R236X(c.706C > T)

p.D57G(c.170A > G)

p.P258L (c.773C > T)

p.K136E (406A > G)

p.M188V (c.562A > G)

p.Q163X (c.487C > T)

Splice

p.(c.133-1G > A)

p.(c.710-2A > G)

p.(c.419 + 1G > A)

p.(c.709 + 39C > G)

p.(c.547-1G > C)

p.(c.261 + 1G > A)

p.(c.636 + 471G > T)

Small deletions

p.Val116Trpfs*9(c.346delG)

p.S196fs (c.587del)

p.T189fs (c.565del)

p.K206fsX14 (c.617delA)

p.(c.547-3_549del)

Deletions/indels

p.K95S (c.283_293del11insT)

Cross deletions

p.(c.1-3440_132 + 1943 [ex. 1])