. 2013 Jan 17;28(6):1533–1542. doi: 10.1093/ndt/gfs600

Table 2.

Genetic details of study subjects

Patient	Exon	Genomic sequence (1 = start of coding sequence)	Predicted protein change
1	13	1664C>T	Ser555Leu
1	26	Exon deleted	Thr985X^c
2	10	1196_1202dupGTGATGC	Ser402X
2	22	2576T>C	Leu859Pro
3	3	363G>C	Glu121Asp
3	5	626G>A	Arg209Gln
4	14	1763C>T	Ala588Val
4	25	2893C>T	Gln965X^c
5^a	10	Homozygous 1195C>T	Arg399Cys
6	3	497C>T	Ala166Val
6	22	2576T>C	Leu859Pro
7	18	2221G>A	Gly741Arg
7	26	2981G>A	Cys994Tyr
8	14	1825+1delG	Intron 14 5′ splice site lost
8	26	2981G>A	Cys994Tyr
9	7	961C>T	Arg321Trp
9	18	2221G>A	Gly741Arg
10	7	911C>T	Thr304Met
10	24	2883+1G>T	Intron 24 5′ splice site lost
11	16	1963C>T	Arg655Cys
11	26	2990_2993dupCGCT	Leu998fs^c
12	13	1664C>T	Ser555Leu
12	18	2221G>A	Gly741Arg
13	18	2221G>A	Gly741Arg
13	24	2883+1G>T	Intron 24 5′ splice site lost
14	26	2996A>G	Tyr999Cys^c
14	26	3089A>G	Gln1030Arg
15	9	1145C>T	Thr382Met
15	18	2221G>A	Gly741Arg
16	5	710G>A	Gly237Asp^c
16	22	2576T>C	Leu859Pro
17^b	10	1196G>T	Arg399Leu^c
17^b	14	1825+1G>T	Intron 14 5′ splice site lost
18^b	10	1196G>T	Arg399Leu^c
18^b	14	1825+1G>T	Intron 14 5′ splice site lost
19	4	539-543delCGGTG	Thr180fs
19	24	2883+1G>T	Intron 24 5′ splice site lost
20	11	1390G>A	Ala464Thr
20	22	2576T>C	Leu859Pro
21	18	2221G>A	Gly741Arg
21	26	3053G>C	Arg1018Pro^c
22	4	506-1G>A	Intron 3 3′ splice site lost
22	17	2089_2095delACCAAGT	Thr697fs
23	14	1763C>T	Ala588Val
23	22	2576T>C	Leu859Pro
24	10	1258G>A	Ala420Thr^c
24	25	2947G>A	Val983Ile^c
25	8	1061_1062dupTC	Leu355fs^c
25	26	2965G>A	Gly989Arg
26	10	1315G>A	Gly439Ser
26	18	2221G>A	Gly741Arg
27	18	Homozygous 2221G>A	Gly741Arg
28	18	2221G>A	Gly741Arg
28	26	2981G>A	Cys994Tyr
29	16	2037+1G>A	Intron 16 5′ splice site lost
29	26	3053G>A	Arg1018Gln
30	1-7	Exons deleted	Probable loss
30	18	2221G>A	Gly741Arg
31	5	626G>A	Arg209Gln
31	14	1763C>A	Ala588Glu^c
32	22	2581C>T	Arg861Cys
32	23	2723T>C	Ile908Thr^c
33	11	1351T>A	Ser451Thr^c
33	18	2221G>A	Gly741Arg
34	10	1315G>A	Gly439Ser
34	24	2883+1G>T	Intron 24 5′ splice site lost
35	18	Homozygous 2221G>A	Gly741Arg
36	5	626G>A	Arg209Gln
36	26	2981G>A	Cys994Tyr

^aParental consanguinity.

^bSiblings.

^cNot previously identified. The missense mutations were absent from SNP databases and/or were in residues previously reported to be differently substituted.