To access the data, click or select the words “Appendix 1.” Note: I CERKL: c.239–2A>G, Very strong (PVS1): this mutation occurs in the splicing region resulting in protein functional altering in CERKL; Moderate (PM2): the variant is not found in the 1000G and Shenzhou Genome databases, with frequencies of 1.9e-05 and 1.16e-04 in ExAC and gnomAD, respectively; Moderate (PM3): there is no corresponding mutation detected in the complementary strand for recessive inheritance; I CERKL: c.1482delT, Very strong (PVS1): this mutation causes an alteration in the open reading frame (ORF) to influencing protein function; Moderate (PM2): the mutation is not found in the 1000G, ExAC and Shenzhou Genome databases, with a frequency of 5.76e-04 in gnomAD; Moderate (PM3): there is no corresponding mutation detected in the complementary strand for recessive inheritance. II PRPH2: c.-5_3dup, Very strong (PVS1): this mutation leads to an alteration in the ORF in PRPH2, changing protein function; Moderate (PM2): the mutation frequency is not found in 1000G, Shenandoah Genome Database, ExAC, and gnomAD. III RPGR: c.1539delC, Very strong (PVS1): the ORF in RPGR was changed by this mutation, resulting protein function altered; the mutation is not found in 1000G, Shenzhou Genome Database, ExAC and gnomAD.