Table 1. List of mutations of PRPF31 correlated with RP.

Mutations	Gene	Disease	Clinical significance (last reviewed)
c.400delG (p.Asp134Ilefs)	PRPF31	Retinal dystrophy	Likely pathogenic
c.527+1G>T	PRPF31	Not provided	Pathogenic (Nov. 7, 2016)
c.527+3A>G	PRPF31	Retinitis pigmentosa 11	Pathogenic (Mar. 1, 2007)
c.562G>T (p.Glu188Ter)	PRPF31	Retinitis pigmentosa	Likely pathogenic
c.581C>A (p.Ala194Glu)	PRPF31	Retinitis pigmentosa 11	Pathogenic (Apr. 6, 2007)
c.615C>G (p.Tyr205Ter)	PRPF31	Retinitis pigmentosa	Likely pathogenic
c.615C>A (p.Tyr205Ter)	PRPF31	Not provided	Pathogenic (Jul. 30, 2013)
c.646G>C (p.Ala216Pro)	PRPF31	Retinitis pigmentosa 11	Pathogenic (Jun. 1, 2009)
c.764A>T (p.Gln255Leu)	PRPF31	Retinitis pigmentosa	Likely pathogenic
c.950delG (p.Gly317Alafs)	PRPF31	Not provided	Pathogenic (May 11, 2016)
c.967G>T (p.Glu323Ter)	PRPF31	Retinal dystrophy	Likely pathogenic
c.994C>T (p.Gln332Ter)	PRPF31	Retinal dystrophy	Likely pathogenic
c.1060C>T (p.Arg354Ter)	PRPF31	Retinal dystrophy	Likely pathogenic
c.1073+1G>A	PRPF31	Retinitis pigmentosa 11	Pathogenic (Apr. 1, 2015)
c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs)	PRPF31	Retinitis pigmentosa 11	Pathogenic (Aug. 1, 2001)
c.1120C>T (p.Gln374Ter)	PRPF31	Retinal dystrophy	Likely pathogenic (Jan. 30, 2015)
c.1273C>T (p.Gln425Ter)	PRPF31	Retinitis pigmentosa 11	Pathogenic (Oct. 8, 2015)
c.1374+654C>G	PRPF31	Retinitis pigmentosa 11	Pathogenic (Sep. 1, 2009)