Molecular Vision: Zou, Mol Vis 2021; 27:1-16. Table 5

Table 5. Novel mutations identified in the RB1 gene.

Sample ID	cDNA change	Protein change	PROVEAN	SIFT	PolyPhen_2	MutationTaster	GERP++	REVEL	ClinVar	Path
19C095179	c.29_60del	p.A11Gfs*9	-	-	-	-	-	-	-	P
CA1261B	c.199delC	p.P67Qfs*9	-	-	-	-	-	-	-	P
CA1233B	c.1455_1456del	p.L486Ifs*5	-	-	-	-	-	-	-	P
19C043857	c.2253_2254del	p.I752Yfs*4	-	-	-	-	-	-	-	P
17C060094	c.2285_2286delAG	p.R763Tfs*31	-	-	-	-	-	-	-	P
17C038288	c.1346G>T	p.G449V	Deleterious	D	Probably damaging	Disease_causing	Con	0.921	P	P
19C005190	c.2489G>T	p.R830I	Deleterious	D	Probably damaging	Disease_causing	Con	0.81	-	P
CA1407B	c.227T>G	p.L76X	Deleterious	-	-	Disease_causing	Con	-	-	P
C170224C04001	c.485_486TC>AA	p.F162X	Deleterious	-	-	Polymorphism	Con	0.126	-	P
17C049460	c.1548G>A	p.W516X	Deleterious	-	-	Disease_causing	Con	-	-	P
19C019664	c.2127T>A	p.Y709X	Deleterious	-	-	Disease_causing	Con	-	-	P
18C014696	c.138-1G>T		-	-	-	Disease_causing	Con	-	-	P
19C085025	c.540-1G>T		-	-	-	Disease_causing	Con	-	-	P
19C043879	c.940-1G>T		-	-	-	Disease_causing	Con	-	LP	P
18C037993	c.1049+1G>A		-	-	-	Disease_causing	Con	-	LP	P
CA1422B	c.1128-2A>T		-	-	-	Disease_causing	Con	-	-	P
19C005097	c.1332+3A>C		-	-	-	-	-	-	-	P
ED0371B	c.1421+1G>A		-	-	-	Disease_causing	Con	-	-	P
17C024351	c.2107-3T>G		-	-	-	-	-	-	-	P
CA1335B	c.2326-1insCC		-	-	-	-	-	-	-	P
18C014502	c.1432dupA	p.N478Kfs*2	-	-	-	-	-	-	-	LP
17C024236	c.197T>A	p.I66K	Neutral	D	Benign	Disease_causing	Con	0.471	-	US
17C024236	c.199C>G	p.P67A	Neutral	T	Benign	Disease_causing	Con	0.243	-	US
CA1251B	c.1049G>C	p.S350T	Neutral	T	Benign	Disease_causing	Con	-	-	US