Table 1

PKHD1 variants in the study cohort

Presentation	Variant type	Patient	Ethnic origin	Exon	Variant
Presentation	Variant type	Patient	Ethnic origin	Exon	cDNA level	Protein level
Nomenclature of PKHD1 sequence variants was based upon the PKHD1 mRNA sequence (GenBank accession no. AF480064) with the A of the start codon designated as nucleotide 1. CHF, congenital hepatic fibrosis.
Fetal	Truncation/truncation	F3	French	59	c.9689delA	p.D3230fs
				59	c.9689delA	p.D3230fs
		F6	French	5	c.353delG	p.S118fs
				41	c.6653_6660dup	p.T2221fs
		F7	French	36	c.5895dupA	p.L1966fs
				69	c.11524 C→T	p.R3842X
		F13	French	59	c.9689delA	p.D3230fs
				59	c.9689delA	p.D3230fs
		F15	French	5	c.370 C→T	p.R124X
				36	c.5895dupA	p.L1966fs
Fetal	Splice/splice	F16	French	IVS32	c.5237-1 G→A
				60	c.9998 G→C	p.R3333T
Fetal	Truncation/missense	F1	French	22	c.2269 A→C	p.I757L
				24	c.2520_2526del7	p.Y841fs
		F2	French	6	c.410 C→G	p.P137R
				23	c.2341 C→T	p.R781X
		F11	French	3	c.107 C→T	p.T36M
				59	c.9689delA	p.D3230fs
		F14	French	3	c.107 C→T	p.T36M
				36	c.5895dupA	p.L1966fs
		112-1	Caucasian American	12	c.806 G→T	p.G269V
				32	c.3761_3762delCCinsG	p.A1254fs
Fetal	Truncation/splice	F4	French	IVS5	c.391-5 A→G
				59	c.9689delA	p.D3230fs
		F5	French	IVS50	c.7912-1 G→C
				59	c.9689delA	p.D3230fs
Fetal	Splice/missense	F12	French	IVS33	c.5381-2 A→C
				34	c.5410 C→T	p.R1804C
Fetal	Missense/missense	F10	French	53	c.8206 T→G	p.W2736G
				59	c.9719 G→T	p.R3240L
Fetal	Truncation	F9	French	34	c.5582delT	p.F1861fs
		36-4	Caucasian American	15	c.1212 G→A	p.W404X
Fetal	Splicing	12-5	Caucasian American	IVS37	c.6121+3_6121+4insT
		F8	French	IVS53	c.8302+3 G→C
Perinatal	Truncation/truncation	111-1	Caucasian American	32	c.3761_3762delCCinsG	p.A1254fs
				32	c.3761_3762delCCinsG	p.A1254fs
		39-1	Hispanic American	59	c.9689delA	p.D3230fs
				59	c.9689delA	p.D3230fs
		48-1	Hispanic American	40	c.6383delT	p.L2128fs
				59	c.9689delA	p.D3230fs
Perinatal	Truncation/splice	2-5	Caucasian American	IVS13	c.976+2 T→A
				32	c.3761_3762delCCinsG	p.A1254fs
		10-20	Hispanic American	29	c.3364 G→A	p.G1122S
				32	c.3761_3762delCCinsG	p.A1254fs
		21-1	Caucasian American	14	c.977 G→T	p.G326V
				19	c.1774 C→T	p.R592X
Perinatal	Splice/in-frame indel	2-18	Caucasian American	IVS40	c.6490+2 T→C
				53	c.8246_8247delGGinsCC	p.W2749S
Perinatal	Truncation/missense	6-3	Caucasian American	22	c.2180 dupA	p.N727fs
				65	c.10444 C→T	p.R3482C
		89-1	Caucasian American	58	c.8870 T→C	p.I2957T
				65	c.10637delT	p.V3546fs
		84-1	Hispanic American	32	c.3848 C→A	p.S1283X
				59	c.9311 T→G	p.F3104C
		13-1	Caucasian American	36	c.5895dupA	p.L1966fs
				54	c.8425 G→A	p.G2809R
		36-6	Caucasian American	52	c.8114delG	p.G2705fs
				56	c.8581 A→G	p.S2861G
		43-1	Caucasian American	3	c.107 C→T	p.T36M
				11	c.711_714delAATG	p.M238fs
		9-1	Caucasian American	36	c.5895dupA	p.L1966fs
				58	c.8870 T→C	p.I2957T
		19-1	Caucasian American	32	c.4415-4418del4ins11	p.C1472fs
				59	c.9725 G→T	p.G3242V
Perinatal	Splice/missense	50-1	Caucasian American	IVS12	c.881-1 G→A
				69	c.11611 T→C	p.W3871R
Perinatal	Missense/missense	7-14	Caucasian American	30	c.3367 G→A	p.G1123S
				56	c.8588 A→G	p.Y2863C
		9-12	Caucasian American	3	c.107 C→T	p.T36M
				55	c.8518 C→T	p.R2840C
		10-16	Caucasian American	3	c.107 C→T	p.T36M
				3	c.107 C→T	p.T36M
		33-1	Caucasian American	3	c.107 C→T	p.T36M
				65	c.10805 C→T	p.P3602L
				65	c.10926 G→A	p.M3642I
		49-1	Caucasian American	30	c.3367 G→A	p.G1123S
				32	c.4751 G→T	p.S1584I
Perinatal	Truncation	28-4	Caucasian American	23	c.2341 C→T	p.R781X
		29-1	Caucasian American	32	c.3761_3762delCCinsG	p.A1254fs
Perinatal	Missense	2-15	Caucasian American	32	c.5236 G→A	p.G1746S
		3-12	Hispanic American	16	c.1409 G→A	p.G470D
		110-1	Caucasian American	16	c.1342 G→C	p.G448R
Perinatal		42-1	Caucasian Canadian		No mutation; no mixing
		5-7	Caucasian American		No mutation; no mixing
Perinatal		10-24	Caucasian American		No mutation after mixing
		45-1	Caucasian American		No mutation after mixing
Older presentation	Truncation/missense	7-1	Caucasian American	32	c.3761_3762delCCinsG	p.A1254fs
				32	c.5160 C→A	p.D1720E
		8-6	Caucasian American	9	c.664 A→G	p.I222V
				58	c.8829dupC	p.I2944fs
		14-1	Caucasian American	9	c.664 A→G	p.I222V
				32	c.3761_3762delCCinsG	p.A1254fs
		10-1	Caucasian American	30	c.3407 A→G	p.Y1136C
				32	c.3761_3762delCCinsG	p.A1254fs
		29-5	Caucasian American	3	c.107 C→T	p.T36M
				32	c.3761_3762delCCinsG	p.A1254fs
Older presentation	Truncation/in-frame deletion	15-1	Caucasian American	15	c.1159_1161delAAT	p.N387del
				36	c.5825 A→G	p.D1942G
Older presentation	Splice/missense	SB131	Saudi Arabian	22	c.2279 G→A	p.R760H
				32	c.4870 C→T	p.R1624W
Older presentation	Missense/missense	3-1	Caucasian American	30	c.3367 G→A	p.G1123S
				30	c.3367 G→A	p.G1123S
		4-1	Caucasian American	3	c.107 C→T	p.T36M
				9	c.664 A→G	p.I222V
		5-1	Caucasian American	37	c.5912 G→A	p.G1971D
				37	c.5912 G→A	p.G1971D
		8-19	South African	20	c.1880 T→A	p.M627K
				20	c.1880 T→A	p.M627K
		8-24	South African	20	c.1880 T→A	p.M627K
				20	c.1880 T→A	p.M627K
		10-10	Egyptian American	3	c.107 C→T	p.T36M
					c.107 C→T	p.T36M
		37-1	Caucasian American	3	c.107 C→T	p.T36M
				34	c.5387 T→C	p.L1796S
		7-4	Caucasian American	3	c.107 C→T	p.T36M
				44	c.6992 T→A	p.I2331L
		92-1	Turkish	15	c.1180 G→A	p.A394T
				54	c.8315 T→C	p.L2772P
		SB213	Saudi Arabian	32	c.4870 C→T	p.R1624W
				32	c.4870 C→T	p.R1624W
		SB253	Saudi Arabian	32	c.4870 C→T	p.R1624W
				32	c.4870 C→T	p.R1624W
Older presentation	Truncation	46-2	Caucasian American	36	c.5895dupA	p.L1966fs
		32-1	Caucasian American	59	c.9689DelA	p.D3230fs
		10-28	Caucasian American	20	c.1854delA	p.G619fs

Older presentation	Missense	10-5	Caucasian American	55	c.8518 C→T	p.R2840C
Older presentation		3-5	Caucasian American		No mutation; no mixing
Older presentation		SB137	Saudi Arabian		No mutation after mixing
CHF	Splice/missense	72-1	Hispanic American	IVS35	c.5751+3 G→A
				59	c.9107 T→G	p.V3036G
CHF	Missense/missense	74-1	French Canadian	56	c.8581 A→G	p.S2861G
				58	c.8870 T→C	p.I2957T
				65	c.10319 T→A	p.V3440D