Table 3.

Potentially pathogenic mutations which occurred in at least two patients

Gene	Transcript	Mutation	Amino acid change	Type	Reported in ClinVar	Reported in COSMIC
ASB18	NM_212556	c.G475A	p.A159T	SNV	No	No
B3GALT5	NM_001278650	c.C343T	p.R115X	Stop-gain	No	No
CLEC4F	NM_001258027	c.T770G	p.L257W	SNV	No	No
COL6A6	NM_001102608	c.G1969C	p.D657H	SNV	No	No
CYP4B1	NM_001319161	c.T341C	p.L114P	SNV	No	No
C6orf132	NM_001164446	c.C574T	p.P192S	SNV	No	No
EXO1	NM_003686	c.A295C	p.N99H	SNV	No	No
GATA4	NM_001308093	c.C106G	p.P36A	SNV	Likely benign	No
HCK	NM_001172129	c.C1367A	p.P456H	SNV	No	No
KCP	NM_001135914	c.G4033A	p.A1345T	SNV	No	No
NPHP4	NM_001291594	c.T2737C	p.Y913H	SNV	No	No
PIGX	NM_001166304	c.G4T	p.A2S	SNV	No	No
PPIL2	NM_001317996	c.G1037C	p.W346S	SNV	No	No
PPP1R3G	NM_001145115	c.G1058A	p.R353H	SNV	No	Yes
RRBP1	NM_004587	c.C1516T	p.L506F	SNV	No	No
SALL4	NM_001318031	c.A1196G	p.Y399C	SNV	No	No
TTC28	NM_001145418	c.C4517T	p.S1506L	SNV	No	Yes

SNV single nucleotide variation