Table 1.

In vitro (minigene) and in vivo results and patient characteristics

No.	Exon	Variant		In vitro	In vivo	Pathogenicity	Sex	Age, yr	ESKD, yr	Deafness	Ocular abnormality	ID
		Nucleotide	Amino acid	Transcription	cDNA
1	15	c.891A>T	Arg297Ser	Normal	NA	Unknown	Female	54	(−)	(−)	(−)	A917
2	19	c.1165G>A	Gly389Arg	Exon 19 deletion	ND	Splicing	Female	16	(+)	(+)	(−)	Weber et al.33
3	21	c.1423G>A	Gly475Ser	36 bp deletion	ND	Splicing	Male	ND	27	(+)	(+)	Bekheirnia et al.5
							Male	ND	(+)	(−)	(−)
4	25	c.1948G>T	Gly650Cys	Exon 25 skipping	Exon 25 skipping	Splicing	Male	31	11	(+)	(−)	A375
							Female	34	(−)	(−)	(−)
							Female	58	30	(−)	(−)
							Female	46	27	(−)	(−)
							Female	67	35	(+)	(−)
							Female	ND	68	(+)	(−)
5		c.1948G>A	Gly650Ser	Exon 25 skipping	ND	Splicing	ND					Wang et al.30
6	28	c.2244G>T	Lys748Asn	Exon 28 skipping	ND	Splicing	ND					Hertz et al.27
7	30	c.2509G>A	Gly837Ser	Exon 30 skipping	ND	Splicing	Male	ND				Zhang et al.36
8	31	c.2677G>C	Gly893Arg	18 bp deletion	ND	Splicing	Male	44	37	(+)	(+)	Mohammad et al.28
							Male	43	28	(+)	(+)
							Female	16	(−)	(−)	(−)
		c.2677G>C (+c.384+1G>A)	Gly893Arg (+c.384+1G>A)				Female	20	(−)	(−)	(−)
9		c.2677G>A	Gly893Ser	18 bp deletion	ND	Splicing	ND					Hanson et al.29
10	32	c.2767G>C	Gly923Arg	Exon 32 skipping	NA	Splicing	Female	2	(−)	(−)	(−)	A268 Abe et al.32
							Female	34	(−)	(−)	(−)
							Female	8	(−)	(−)	(−)	A906
							Female	31	(−)	ND	ND
11	35	c.3106G>A	Gly1036Arg	Normal	NA	Missense	Female	11 yr	(−)	(−)	(−)	A604
							Female	Adult	(−)	ND	ND
12	37	c.3373G>A	Gly1125Arg	Exon 37 skipping	ND	Splicing	Female	30	(−)	ND	ND	Bullich et al.34
							Female	31	(−)
							Female	12	(−)
13	41	c.3790G>A	Gly1264Arg	Exon 41 skipping	Exon 41 skipping	Splicing	Male	53	26 yr	(+)	(−)	A21/A399
							Female	49	(−)	(−)	(−)
							Male	21	(−)	ND	ND
14	42	c.3924G>C	Gln1308His	Exon 42 skipping	ND	Splicing	Male	ND	13 yr	(+)	(+)	Bekheirnia et al.5
15	43	c.3997G>A	Gly1333Ser	Exon 43 skipping	ND	Splicing	Male	ND				Plant et al.25
16	44	c.4069G>C	Gly1357Arg	Exon 44 skipping	NA	Splicing	Female	38	(−)	(−)	(−)	A685
17		c.4069G>A	Gly1357Ser	Exon 44 skipping	ND	Splicing	Male	ND	22	ND	ND	Plant et al.25
18	46	c.4297G>A	Gly1433Ser	Normal	NA	Missense	Male	21	(−)	(−)	(−)	A771
19	48	c.4688G>A	Arg1563Glu	Exon 48 skipping	Exon 48 skipping	Splicing	Male	16	(−)	(+)	(−)	A582
							Female	48	16	(−)	(−)
							Female	25	(−)	(−)	(−)	A910
							Male	21	(−)	(+)	(−)	Zhou et al.24
							Female	44	(−)	(−)	(−)
							Male	36	29	(+)	(−)
							Female	ND	(−)	ND	ND
							Female	53	(−)	(+)	ND
							Female	ND	(−)	ND	ND
							Male	Dead	27	(+)	(+)
							Female	11	(−)	(−)	(+)	Han et al.35
							Male	26	(−)	(+)	(−)	Gross et al.26
							Male	ND	Average 34.5	ND	ND	Pont-Kingdon et al.28
							Male
							Male
							Male
							Male
20	50	c.4976G>A	Ser1659Asn	Exon 50 skipping	ND	Splicing	ND					Wang et al.30

bp, base pair; ESKD, end-stage kidney disease; ID, identification; NA, not available; ND, no data; No., number.