Table 1.

Patient characteristics

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Age, year	4	6	9	14	15
Specimen used for genotyping	Muscle	Muscle	Muscle	Muscle	Muscle
DNA changes	c.1633G>A	c.3140A>G	c.1624G>A	c.1624G>A	c.1633G>A
VAF (%)a	15	25	12	21	14
Amino acid change	p.Glu545Lys	p.His1047Arg	p.Glu542Lys	p.Glu542Lys	p.Glu545Lys
COSMICb genomic mutation ID	COSV55873239	COSV55873195	COSV55873227	COSV55873227	COSV55873239
Treatments prior to alpelisib	-	-	Botulinum toxin injections	-	Botulinum toxin injections

^aCorresponds to the percentage of alternate or mutant reads to total reads detected by next-generation sequencing.

^bCatalogue of Somatic Mutations in Cancer.