Table 2.

OCRL mutations associated with congenital glaucoma.

Patient Number	Mutation Type	Exon	Nucleotide Change	Protein Change	Literature
1	Deletion	8	c.739-742delAAAG c.741-744delAGAA	p.Lys192Lys fsX	Lowe I
2	Deletion	14	c.1595-1631del37	p.Tyr477Leu fsX	Lowe II
3	Missense	15	c.1661A > C GAC > GCC	p.Asp499Ala	Luo 2014
4	Missense	15	c.1736A > G CAC»CGC	p.His524Arg	Draaken 2011
5	Deletion	8	c.797delT GTA»GAC	p.Val211Asp fsX	Hichri 2010
6	Missense	9	c.890 T > C TTT»TCT	p.Phe242Ser	”
7	Missense	12	c.1280 T > G GTC > GGC	p.Val372Gly	”
8	Missense	12	c.1406 A > G CAT > CGT	p.His414Arg	”
9	Missense	13	c.1516 G > A GAC > AAC	p.Asp451Asn	”
10	Nonsense	14	c.1543 A > T AAA > TAA	p.Lys460X	”
11	Deletion	14	c.1560-1561delCT GACTTC > GATC	p.Asp465Asp fsX	”
12	Missense	15	c.1672T > C TGG > CGG	p.Trp503Arg	”
13	Insertion	16	c.1846-1847insGACT TTC > TGACTTC	p.Phe561X	”
14	Insertion	16	c.1857-1858insCCTT TCCTTA > TCCCCTTTTA	p.Leu565Pro fsX	”
15	Missense	17	c.1938C > A AAC > AAA	p.Asn591Lys	”
16	Insertion	19	c.2359-2360insC CTT > CCT	p.Leu732P fsX	”
17	Deletion	19	c.2389-2391delGTA	p.Val742del	”
18	Nonsense	21	c.2629 C > T CGA > TGA	p.Arg822X	”
19	Missense	22	c.2746 + 1 G > C	Splicing defect	”
20	Deletion	23	c.2802-2806delGACTC CAGACTCCA > CACA	p.Gln879-Thr880 > His fsX	”
21	Missense	10	c.995 A > G CAA > CGA	p.Gln277Arg	Sethi 2008
22	Deletion	21	c.2525-2526delTG GTGGCT > GGCT	p.Val787Gly fsX	”
23	Missense	21	c.2567-2568 A > G	Splicing defect	”
24	Deletion	19	c.2333-2340del8 TGGATGAA TTGGATGAAGG > TGG	p.Leu723Trp fsX	Kim 2014
25	Missense	14	c.1619G > A CGG > CAG	p.Arg485Gln	”
26	Nonsense	21	c.2593 C > T CGA > TGA	p.Arg810X	”
27	Inversion	21	c. 2408-5164 inv	Gross inversion	”
28	Nonsense	12	c.1327 C > T CAA > TAA	p.Gln388X	Kubota 1998
29	Missense	15	c.1731C > G AGC > AGG	p.Ser522Arg	”
30	Missense	10	c.992 T > C TTC > TCC	p.Phe276Ser	Chabaâ 2006