. 2019 Apr 3;155(5):548–555. doi: 10.1001/jamadermatol.2019.0016

Table. Second-Hit Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

Patient	Germline Mutation	Reads in Blood, No.		Reads in Tissue, No.		Somatic Mutation	Reads in Blood, No.		Reads in Tissue, No.
Patient	Germline Mutation	Ref	Non-Ref	Ref	Non-Ref	Somatic Mutation	Ref	Non-Ref	Ref	Non-Ref
1	PMVK c.329G>A, p.R110Q	21	15	16	61	CN-LOH Chr 1:146-248Mb^a	NA	NA	NA	NA
2	PMVK c.79G>T, p.E27X	77	63	86	88	PMVK c.379C>T, p.Q127X	113	0	119	34
3	MVD c.70 + 5G>A	18	8	45	44	MVD c.811_815del, p.F271A fs*33	68	0	83	10

Abbreviations: Chr, chromosome; CN-LOH, copy-neutral loss of heterozygosity; Mb, megabases; NA, not applicable; Ref, reference.

^{^a}

PMVK spans Chr 1:154 897 208-154 909 484.