Table 1.

Heterozygous mutation in exome regions of the tuberous sclerosis complex subunit 2 (TSC2) gene identified by Sanger sequencing a 24-year-old male patient and his father.

Patient and the family genetic mutation
Gene	Inheritance mode	Patient*	Father*	Mother*
TSC2	Unknown	Heterozygous 135/361	Heterozygous 152/329	Wild-type 0/200
Detailed gene information
Gene	Chromosomal location	Nucleic acid changes (exon number)	Amino acid changes (variant number)	ACMG
TSC2	Chr16:2135322-2135344	c.4661(exon36)_c.4662 +21(IVS36)del AGGTGAG GCTGCGGGGC CGGCCT	p.Q1554Qfs 11(p.Gln15 54Glnfs11) (NM_000548)	Pathogenic

*The carrying state of TSC2 and the ratio of variation depth to total depth.

ACMG, American College of Medical Genetics and Genomics.