. Author manuscript; available in PMC: 2021 Sep 1.

Published in final edited form as: Hum Mutat. 2020 Jul 5;41(9):1528–1539. doi: 10.1002/humu.24065

Table 1:

Most Common Pathogenic or Likely Pathogenic PRPH2 Variants (≥ 3 Probands)

cDNA position*	Protein change	Number of probands	gnomAD frequency	References
c.828+3A>T	abnormal splicing	28	0.000004288	Sohocki 2001 Sears 2001
c.389T>C	p.Leu130Pro	3	Not Present	Ba-Abbad 2014
c.394delC	p.Gln132Lysfs*7	3	0.000004063	Ba-Abbad 2014
c.422A>G	p.Tyr141Cys	10	Not Present	Yang 2001, Khani 2003
c.424C>T	p.Arg142Trp	5	0.00001625	Keilhauer 2006, Anand 2009
c.514C>T	p.Arg172Trp	9	Not Present	Anand 2009, Duncan 2011
c.612C>A	p.Tyr204*	4	Not Present	Birtel 2018
c.629C>G	p.Pro210Arg	7	Not Present	Feist 1994, Duncan 2011
c.647C>T	p.Pro216Leu	3	0.000004061	Kajiwara 1991, Van Cauwenbergh 2017
c.715C>T	p.Gln239*	4	Not Present	Kohl 1997