Table I.

Summary of the germline (1^st-hit) and postzygotic somatic (2^nd-hit) pathogenic variants in the MVD gene identified in patients with linear porokeratosis and porokeratosis plantaris, palmaris et disseminata

Patient	Sex	Age, years	Age of onset	SCC development	1st hit (germline)	Biopsy (phenotype)	2nd hit (somatic)	Number of reads
1	Male	84	Preschool age	–	MVD c.70+5G>A heterozygous	Left side of thorax (LP)_1 Left side of thorax (LP)_2a Right upper arm (Disseminated)	ND LOH ND	– Coverage: 189x Ref.: 67x (35%) Alt.: 122x (65%) –
2	Male	74	Babyhood (soon after birth)	+	MVD c.70+5G>A heterozygous	Left thigh (LP)	LOH	Coverage: 614x Ref.: 201x (33%) Alt.: 412x (67%)
3	Female	54	Childhood	–	MVD c.70+5G>A heterozygous	NA
4	Female	9	At birth	–	MVD c.70+5G>A heterozygous	Arm (LP)	LOH	Coverage 2350x Ref.: 826x (35%) Alt.: 1524x (65%)
5	Male	65	18	–	MVD c.70+5G>A heterozygous	Fibular plantar area, caudal (PPPD) Fibular plantar area, cranial (PPPD)	LOH LOHb	Coverage: 43x Ref.: 16x (37%) Alt.: 27x (63%) Coverage: 408x Ref.: 184x (45%) Alt.: 224x (55%)
6	Female	27	7	–	MVD c.70+5G>A heterozygous	Fibular plantar area (PPPD)	ND	–
7	Male	73	13	–	MVD c.70+5G>A heterozygous	Fibular plantar area (PPPD) Left side of abdomen (PPPD)	LOH ND	Coverage 204x Ref.: 46x (23%) Alt.: 158x (77%) –

^aCurettage of the lesion.

^bPresumably minimal loss of heterozygosity (LOH).

SCC: squamous cell carcinoma; NA: not available; ND: not detected; Ref.: Reference allele G; Alt.: alternative allele A. The number and percentages of reads with the alternative allele A are given in bold.