Table 2. List of mutations found by WES and SS.

Gene	Nucleotide change	Protein change	Patient ID	Hom/Het	WES	SS	Known/PUR	Reference
ABCC6	c.C118T	p.(P40S)	P10	Het	√	√	PUR
ABCC6	c.998+2	998+3del TG	P8	Het	√	√	PUR
ABCC6	c.T1484A	p.(L495H)	P7	Het	√	√	Known	Miksch et al., 2005
ABCC6	c.G1553A	p.(R518Q)	P11	Hom	√	√	Known	Uitto et al., 2001
ABCC6	c.G1553A	p.(R518Q)	P12, P13, P14	Het	√	√	Known	Uitto et al., 2001
ABCC6	c.G2263A	p.(G755R)	P11	Het	√	√	Known	Pfendner et al., 2007
ABCC6	c.G2294A	p.(R765Q)	P3	Het	√	√	Known	Le Saux et al., 2001
ABCC6	del2860_2865		P12, P13,14	Het	√	√	PUR
ABCC6	c.T2911C	p.(W971R)	P11	Het	√	√	PUR
ABCC6	Ex23_24del		P2	Hom	√	√	Known	Ringpfeil et al., 2001
ABCC6	c.T3032C	p.(L1011P)	P9	Hom	√	√	PUR
ABCC6	c.C3190T	p.(A1064T)	P7	Het	√	√	Known	Miksch et al., 2005
ABCC6	c.G3413A	p.(R1138Q)	P11	Het	√	√	Known	Le Saux O, 2011
ABCC6	c.C3421T	p.(R1141X)	P4	Hom	√	√	Known	Bergen et al., 2000
ABCC6	c.C3421T	p.(R1141X)	P52, P8, P162	Het	√	√	Known	Bergen et al., 2000
ABCC6	c.C3490T	p.(R1164X)	P6, P15	Hom	√	√	Known	Struk et al., 2000
ABCC6	c.G4198A	p.(E1400K)	P10	Het	√	√	Known	Chassaing et al., 2004
ABCC6	c.C4216A	p.(Q1406K)	P3	Het	√	√	PUR
GGCX	c.C1321T	p.(R441C)	P7	Het	√	√	PUR

Het, heterozygous; Hom, homozygous; PUR, previously unreported; SS, Sanger sequencing; WES, whole-exome sequencing.

¹Patient with three mutations in ABCC6.

²Patients with a single mutation in ABCC6.