Table 2 Features of the two variants found in the ASAH1 gene

A

ASAH1

NM_177924.5

c.109 C > A

p.Pro37Thr

2/14

gnomAD: N/A

1KGP^*: N/A

Iranome: N/A

Homozygous

Missense,

Likely Pathogenic

B, C

ASAH1

NM_177924.5

c.125 C > T

p.Thr42Met

2/14

gnomAD: 3

1KGP^*: N/A

Iranome: N/A

Homozygous

Missense,

Pathogenic