Molecular Vision: Zou, Mol Vis 2021; 27:1-16. Table 4

Table 4. Summary of germline mutations identified in the RB1 gene by targeted NGS.

Sample ID	Laterality	Age at diagnosis	Stage	Location	cDNA change	Protein change	Expected Effect	Heredity	Reference	Path
		(month)
C170226C02501	U	58	d	Exon1	c.14dupC	p.R7Pfs*24	frameshift	de novo	12541220	P
19C095179	B	11	ce	Exon1	c.29_60del	p.A11Gfs*9	frameshift	de novo	novel	P
CA1261B	B	3	dd	Exon2	c.199delC	p.P67Qfs*9	frameshift	de novo	novel	P
CA1405B	B	11	ec	Exon2	c.236delA	p.E79Gfs*31	frameshift	de novo	24225018	P
18C044455	U	2	e	Exon11	c.1121_1122delCA	p.P374Rfs*2	frameshift	de novo	7795591	P
17C035200	U	17	e	Exon13	c.1249_1250del	p.R418Sfs*9	frameshift	de novo	17960112	P
CA1233B	B	1	db	Exon 16	c.1455_1456del	p.L486Ifs*5	frameshift	de novo	novel	P
19C043857	B	3	be	Exon22	c.2253_2254del	p.I752Yfs*4	frameshift	de novo	novel	P
17C060094	U	12	e	Exon22	c.2285_2286delAG	p.R763Tfs*31	frameshift	de novo	novel	P
17C060247	B	8	dd	Exon14	c.1345G>A	p.G449R	missense	de novo	17096365	P
17C038288	B	12	de	Exon14	c.1346G>T	p.G449V	missense	de novo	novel	P
19C005190	B	42	ec	Exon23	c.2489G>T	p.R830I	missense	de novo	novel	P
C170224C04001	B	4	dd	Exon4	c.485_486TC>AA	p.F162X	nonsense	de novo	novel	P
CA1407B	B	6	de	Exon2	c.227T>G	p.L76X	nonsense	de novo	novel	P
18C001347	B	10	de	Exon7	c.619C>T	p.Q207X	nonsense	NA	8776589	P
C170302C06501	B	13	dd	Exon8	c.751C>T	p.R251X	nonsense	de novo	7704558	P
CA1234B	B	31	ed	Exon8	c.751C>T	p.R251X	nonsense	de novo	7704558	P
17C038371	B	5	de	Exon8	c.763C>T	p.R255X	nonsense	de novo	7704558	P
CA1282B	B	13	be	Exon8	c.763C>T	p.R255X	nonsense	de novo	7704558	P
18C057245	U	30	d	Exon10	c.958C>T	p.R320X	nonsense	de novo	7704558	P
C170226C02601	B	3	ed	Exon10	c.958C>T	p.R320X	nonsense	de novo	7704558	P
CA1290B	B	13	de	Exon10	c.958C>T	p.R320X	nonsense	de novo	7704558	P
CA1296B	U	33	d	Exon10	c.958C>T	p.R320X	nonsense	de novo	7704558	P
ED0393B	B	12	dd	Exon11	c.1072C>T	p.R358X	nonsense	de novo	7795591	P
19C085034	B	17	eb	Exon14	c.1363C>T	p.R455X	nonsense	de novo	8651278	P
19C149616	U	20	d	Exon15	c.1399C>T	p.R467X	nonsense	de novo	7795591	P
CA1259B	B	9	dd	Exon15	c.1399C>T	p.R467X	nonsense	de novo	7795591	P
17C049460	B	6	ec	Exon17	c.1548G>A	p.W516X	nonsense	de novo	novel	P
CA1284B	U	3	e	Exon17	c.1654C>T	p.R552X	nonsense	father	7704558	P
CA1351B	B	27	ea	Exon17	c.1654C>T	p.R552X	nonsense	father	7704558	P
C170209C00101	B	3	db	Exon17	c.1666C>T	p.R556X	nonsense	de novo	7704558	P
CA1309B	B	8	bd	Exon17	c.1666C>T	p.R556X	nonsense	de novo	7704558	P
18C037953	B	18	ed	Exon18	c.1723C>T	p.Q575X	nonsense	father	8651278	P
CA1298B	B	8	db	Exon18	c.1735C>T	p.R579X	nonsense	de novo	7704558	P
19C019664	B	7	bd	Exon21	c.2127T>A	p.Y709X	nonsense	de novo	novel	P
19C149227	B	24	ed	Exon22	c.2284C>T	p.Q762X	nonsense	de novo	8776589	P
18C014696	B	6	bd	Intron1	c.138-1G>T		splicing	de novo	novel	P
CA1257B	B	2	da	Intron2	c.265-2A>G		splicing	de novo	15605413	P
CA1258B	B	2	aa	Intron2	c.265-2A>G		splicing	father	15605413	P
19C085025	B	12	ed	Intron5	c.540-1G>T		splicing	de novo	novel	P
18C014733	U	16	e	Intron6	c.608-2A>G		splicing	father	17960112	P
17C060140	U	13	e	Intron8	c.862-1G>A		splicing	father	24225018	P
19C043876	B	5	dd	Intron9	c.940-2A>G		splicing	de novo	22180099	P
19C043879	B	6	ac	Intron9	c.940-1G>T		splicing	de novo	novel	P
18C037993	B	1	eb	Intron10	c.1049+1G>A		splicing	de novo	novel	P
CA1422B	B	6	be	Intron11	c.1128-2A>T		splicing	de novo	novel	P
18C014515	B	14	d	Intron12	c.1215+1G>A		splicing	de novo	2601691	P
18C037965	B	4	ae	Intron12	c.1215+1G>A		splicing	de novo	2601691	P
18C014512	U	17	ce	Intron12	c.1215+1G>A		splicing	de novo	2601691	P
19C005097	B	30	eb	Intron13	c.1332+3A>C		splicing	mother	novel	P
ED0371B	B	10	dd	Intron15	c.1421+1G>A		splicing	father	novel	P
17C056558	B	5	be	Intron18	c.1814+3A>T		splicing	de novo	22963398	P
17C024351	B	22	ce	Intron20	c.2107-3T>G		splicing	de novo	novel	P
CA1335B	B	8	dc	Intron22	c.2326-1insCC		splicing	de novo	novel	P
ED0384B	B	5	ce	Intron24	c.2520+5G>A		splicing	de novo	15605413	P
18C014502	U	2	e	Exon16	c.1432dupA	p.N478Kfs*2	frameshift	NA	novel	LP
CA1283B	B	13	ec	Exon1	c.137G>A	p.R46K	missense	de novo	19390654	LP
18C057224	B	11	de	Exon22	c.2268T>A	p.Y756X	nonsense	NA	24688104	LP
CA1297B	B	18	ae	Intron15	c.1421+3A>T		splicing	NA	14769601	LP
17C024236	U	22	e	Exon2	c.197T>A	p.I66K	missense	father	novel	US
17C024236	U	22	e	Exon2	c.199C>G	p.P67A	missense	father	novel	US
17C060094	U	12	e	Exon9	c.920C>T	p.T307I	missense	mother	12541220	US
CA1251B	U	7	d	Exon10	c.1049G>C	p.S350T	missense	NA	novel	US
18C014668	B	22	ee	Exon8	c.861G>A	p.E287E	synonymous	NA	24225018	US