TABLE 1.

Disease‐causing variants found. Reference sequences: Genome GRCh37/hg19, TSC1 NM_000368.5, TSC2 NM_000548.5.

						Blood		Buccal		Skin (HM)		Skin (AF)		Skin (SP)
	Pt	Gene	Genomic position	cDNA	Amino acid	VAF	Reads	VAF	Reads	VAF	Reads	VAF	Reads	VAF	Reads	Path
Het	2	TSC2	16:g.2136350A > C	c.4819A > C	p.(Thr1607Pro)	50%	676/1409	50%	255/520							LP
	9	TSC1	9:g.135778042G > A	c.2341C > T	p.(Gln781*)	50%	1619/3256	50%	1563/3108							P
	13	TSC1	9:g.135796747 T > C	c.737 + 3A > G	p.?	50%	533/1034	50%	743/1584							LP
Mosaic	1	TSC2	16:g.2130180C > T	c.3412C > T	p.(Arg1138*)	4%	16/427	4%	14/380	0.5%	1/230					P
	3	TSC1	9:g.135781002G > A	c.1963C > T	p.(Gln655*)	5%	34/667	1%	4/621							P
	5	TSC2	16:g.2138294C > T	c.5227C > T	p.(Arg1743Trp)	4%	35/783	5%	18/419	10%	55/571					P
	8	TSC2	16:g.2122880C > T	c.2251C > T	p.(Arg751*)	3%	88/2731	2%	48/1981							P
	11	TSC2	16:g.2135255C > T	c.4594C > T	p.(Gln1532*)	0.2%	1/480	3%	11/407	1%	4/299					LP
	12	TSC2	16:g.2138294C > T	c.5227C > T	p.(Arg1743Trp)	7%	81/1191	8%	46/580	8%	57/691					P
	14	TSC2	16:g.2107105G > A	c.775‐1G > A	p.?	3%	14/427	7%	27/366			13%	75/593			P
	16	TSC2	16:g.2134574dupC	c.4351dupC	p.(Arg1451Profs*73)	18%	88/630					17%	85/500			P
												7%	45/385
	17	TSC2	16:g.2112602G > A	c.1361 + 1G > A	p.?	2%	22/1335	3%	28/951							P
	18	TSC2	16:g.2120571C > T	c.1831C > T	p.(Arg611Trp)	3%	73/2547	2%	12/773					9%	68/800	P

Note: Grey shading, sample type not supplied for that participant.

*Indicates a stop codon, as per HGVS nomenclature.

Abbreviations: AF, angiofibroma; Het, heterozygous; HM, hypomelanotic macule; LP, likely pathogenic; Path, variant classification according to American College of Medical Genetics & Genomics criteria; P, pathogenic; Pt, participant; SP, shagreen patch; VAF, variant allele frequency.