Table 1 The 57 potential pathogenic mutations in 77 known RP genes in the 40 of the 98 small Han Chinese families with RP.

From: Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Gene	Inheritance model	Families	Mutation	Type	Change	PROVEAN	SIFT	Polyphon-2	Reported
ABCA4	sporadic	RP-047	c.6083C > T,p.Thr2028Ile	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
ABCA4	sporadic	RP-047	c.740A > T,p.Asn247Ile	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Rivera et al.¹⁴
ABCA4	sporadic	RP-070	c.3364G > A,p.Glu1122Lys	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Lewis et al.¹⁵
ABCA4	sporadic	RP-070	c.1496G > A,p.Trp499*	compound heterozygous	stopgain	NA	NA	NA	Novel
ABCA4	sporadic	RP-134	c.5318C > T,p.Ala1773Val	compound heterozygous	nonsynonymous	Deleterious	Tolerated	probably damaging	Stenirri et al.¹⁷
ABCA4	sporadic	RP-134	c.164A > G,p.His55Arg	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Downs et al.¹⁸
BEST1	sporadic	RP-128	c.362G > C,p.Gly121Ala	homozygous	nonsynonymous	Deleterious	Tolerated	probably damaging	Novel
RBP3	sporadic	RP-042	c.3635C > T:p.Thr1212Ile	compound heterozygous	nonsynonymous	Neutral	Tolerated	benign	Novel
RBP3	sporadic	RP-042	c.2603T > C:p.Ile868Thr	compound heterozygous	nonsynonymous	Neutral	Damaging	possibly damaging	Novel
RBP3	sporadic	RP-156	c.787G > T:p.Ala263Ser	compound heterozygous	nonsynonymous	Neutral	Tolerated	possibly damaging	Novel
RBP3	sporadic	RP-156	c.97A > G:p.Lys33Glu	compound heterozygous	nonsynonymous	Neutral	Damaging	possibly damaging	Novel
C8orf37	recessive	RP-109	c.536A > G,p.Tyr179Cys	homozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
CRB1	sporadic	RP-052	c.1576C > T,p.Arg526*	compound heterozygous	stopgain	NA	NA	NA	Seong et al.¹⁹
CRB1	sporadic	RP-052	c.3442T > C,p.Cys1148Arg	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
CRX	dominant	RP-046	c.365G > A,p.Gly122Asp	heterozygous	nonsynonymous	Neutral	Damaging	benign	Zernant et al.²¹
EYS	sporadic	RP-084	c.4245G > T,p.Gln1415His	compound heterozygous	nonsynonymous	Neutral	Damaging	benign	Novel
EYS	sporadic	RP-084	c.3489T > A,p.Asn1163Lys	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
EYS	recessive	RP-097	c.6416G > A,p.Cys2139Tyr	homozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Audo et al.²⁰
FSCN2	dominant	RP-149	c.227G > A,p.Arg76His	heterozygous	nonsynonymous	Neutral	Damaging	probably damaging	Novel
IMPDH1	dominant	RP-121	c.931G > A,p.Asp311Asn	heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Bowne et al.²²
KIAA1549	sporadic	RP-001	c.5636C > T,p.Pro1879Leu	compound heterozygous	nonsynonymous	Deleterious	Damaging	NA	Novel
KIAA1549	sporadic	RP-001	c.4697G > A,p.Arg1566His	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
MERTK	sporadic	RP-010	c.296_297delCA,p.Thr99Serfs*8	homozygous	frameshift_deletion	NA	NA	NA	Novel
PROM1	sporadic	RP-029	c.1984A > T,p.Lys662*	compound heterozygous	stopgain	NA	NA	NA	Novel
PROM1	sporadic	RP-029	c.1911 + 1G > A,-	compound heterozygous	splicing	NA	NA	NA	Novel
PROM1	recessive	RP-041	c.1078-2A > T,-	compound heterozygous	splicing	NA	NA	NA	Novel
PROM1	recessive	RP-041	c.748delA,p.Met250Trpfs*15	compound heterozygous	frameshift_deletion	NA	NA	NA	Novel
PRPF31	dominant	RP-035	c.1222C > T,p.Arg408Trp	heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
PRPF31	dominant	RP-098	c.1231_1232delCA,p.Gln411Glyfs*63	heterozygous	frameshift_deletion	NA	NA	NA	Novel
PRPF31	dominant	RP-126	c.1231_1232delCA,p.Gln411Glyfs*63	heterozygous	frameshift_deletion	NA	NA	NA	Novel
PRPF6	dominant	RP-068	c.1495G > A,p.Val499Met	heterozygous	nonsynonymous	Deleterious	Tolerated	probably damaging	Novel
PRPF6	dominant	RP-081	c.542C > T,p.Pro181Leu	heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
RDH12	dominant	RP-62	c.121G > T,p.Val41Leu	heterozygous	nonsynonymous	Neutral	Damaging	benign	Novel
RHO	dominant	RP-017	c.1040C > T,p.Pro347Leu	heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Sohocki et al.²³
ROM1	dominant	RP-111	c.117T > G,p.Ser39Arg	heterozygous	nonsynonymous	Neutral	Damaging	probably damaging	Novel
RP1	sporadic	RP-008	c.5764A > G,p.Thr1922Ala	heterozygous	nonsynonymous	Neutral	Damaging	benign	Novel
RP1	recessive	RP-012	c.788_790delTAA,p.Ile263del	homozygous	nonframeshift_deletion	NA	NA	NA	Novel
RP1	recessive	RP-096	c.1482C > G,p.Asn494Lys	compound heterozygous	nonsynonymous	Neutral	Damaging	possibly neutral	Novel
RP1	recessive	RP-096	c.2194C > T,p.Gln732*	compound heterozygous	stopgain	NA	NA	NA	Novel
RP1	sporadic	RP-153	c.5311T > C,p.Ser1771Pro	heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
RP2	X-linked	RP-170	c.445C > T,p.Gln149*	hemizygote	stopgain	NA	NA	NA	Novel
RPGR	X-linked	RP-027	c.284G > A,p.Glu95Glu	hemizygote	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
RPGR	X-linked	RP-054	c.2236_2237delCT,p.Glu746Argfs*23	hemizygote	frameshift_deletion	NA	NA	NA	Novel
RPGR	X-linked	RP-138	c.1477delC,p.Gly494Glufs*7	hemizygote	frameshift_deletion	NA	NA	NA	Novel
SNRNP200	dominant	RP-083	c.3454C > T,p.Arg1152Cys	heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
SNRNP200	dominant	RP-62	c.6025C > T,p.Arg2009Cys	heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
USH2A	recessive	RP-028	c.12512T > G,p.Val4171Gly	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
USH2A	recessive	RP-028	c.8559-2A > G),-	compound heterozygous	splicing	NA	NA	NA	Nakanishi et al.²⁵
USH2A	recessive	RP-033	c.13151G > T,p.Gly4384Val	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
USH2A	recessive	RP-033	c.6683T > A,p.Val2228Glu	compound heterozygous	nonsynonymous	Deleterious	Damaging	possibly deleterious	Novel
USH2A	sporadic	RP-063	c.4957C > T,p.Arg1653*	compound heterozygous	stopgain	NA	NA	NA	Dreyer et al.²⁴
USH2A	sporadic	RP-063	c.2802T > G,p.Cys934Trp	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Xu et al.²⁶
USH2A	sporadic	RP-076	c.8188C > T,p.Pro2730Ser	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
USH2A	sporadic	RP-076	c.6326_6331delATTTAG,p.Asp2109_Leu2110del	compound heterozygous	splice-acceptor	NA	NA	NA	Novel
USH2A	recessive	RP-116	c.13621C > T,p.Gln4541*	compound heterozygous	stopgain	NA	NA	NA	Novel
USH2A	recessive	RP-116	c.12409A > T,p.Arg4137*	compound heterozygous	stopgain	NA	NA	NA	Novel
USH2A	sporadic	RP-166	c.6950G > A,p.Gly2317Asp	compound heterozygous	nonsynonymous	Deleterious	Damaging	probably damaging	Novel
USH2A	sporadic	RP-166	c.3407G > A,p.Ser1136Asn	compound heterozygous	nonsynonymous	Neutral	Damaging	probably damaging	Novel

The mutations were filtered with the following multiple-step bioinformatics analysis: 1) the SNPs and short indels in the exome region were filtered against data from 1000 genome, dbSNP135-common, ExAC and unrelated individuals of 2020 in-house non-RP controls, removing minor allele frequency (MAF) values that were greater than 0.005 for recessive model and any frequency for dominant model; 2) excluded non-coding variants without altering splicing sites; 3) excluded the synonymous variants without altering splicing sites in the genes; 4) excluded missense variants predicted to be Neutral/Tolerated /Benign by PROVEAN, SIFT and Polyphen-2.

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Table 1 The 57 potential pathogenic mutations in 77 known RP genes in the 40 of the 98 small Han Chinese families with RP.

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