Table 1. Single nucleotide variations identified in the family with five CM-1 affected members when considering a dominant inheritance model.

Position (GRCh37/hg19)	Gene	Ref	Alt	dbsnp.b141	Impact variant	PP2	Shift	Mutation Taster	ExAC ENF	1000G EUR	GoESP6500SI
chr3:48623625	COL7A1	C	T	rs149011081	NS	D	D	D	0.0029	0.0030	0.0030
chr3:130187662	COL6A5	G	T	rs115375867	Stop gained	-	-	-	0.0112	0.0010	0.0070
chr6:69348700	ADGRB3	A	G	rs138295002	NS	B	T	D	0.0005	0.0010	0.0010
chr6:56507522	DST	C	T	rs749722200	NS	D	D	-	0.0001	-	-
chr8:37693279	ADGRA2	G	A	rs77369926	NS	D	T	D	0.0058	0.0050	0.0030
chr9:101816909	COL15A1	A	G	rs35544077	NS	T	D	D	0.0088	0.0050	0.0080
chr10:7628008	ITIH5	G	A	-	NS	D	D	D	-	-	-

NS (nonsynonymous), D (deleterious), B (benign), T (tolerant)