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. 2020 Jan 31;10:1603. doi: 10.1038/s41598-020-58243-9

Table 2.

Genetic data of RP1 patients.

PATIENT	ALLELE 1				ALLELE 2
PATIENT	NUCLEOTIDE CHANGE	PROTEIN CHANGE	EXON	EFFECT	NUCLEOTIDE CHANGE	PROTEIN CHANGE	EXON	EFFECT
1	c.469delG	p.Val157Trpfs*16	2	FS	c.1265dupC	p.Ala423Cysfs*2^†	4	FS
2	c.1186 C > T	p.Arg396*	4	SG	c.1625C > G	p.Ser542*	4	SG
3	c.1186 C > T	p.Arg396*	4	SG	c.1234dupA	p.Met412Asnfs*7^†	4	FS
4	c.1186 C > T	p.Arg396*	4	SG	c.1186 C > T	p.Arg396*	4	SG
5	c.3843delT	p.Pro1282Leufs*12	4	FS	C.3843delT	p.Pro1282Leufs*12	4	FS
6	c.1625C > G	p.Ser542*	4	SG	c.1625C > G	p.Ser542*	4	SG
7	c.1625C > G	p.Ser542*	4	SG	c.1625C > G	p.Ser542*	4	SG

Patient 4, 5, 6 and 7 are homozygotes. (FS – frameshift; SG – stop gain; M – missense; ^†NOVEL Variants).