Supplementary Text. Retinal disease genes for next-generation sequencing in the panels. Panel 1. The list of 256 genes of targeted panel sequencing. ABCA4 BBS2 CEP290 DHDDS GPR125 INVS ABCC6 BBS4 CERKL DHX38 GPR143 IQCB1 ABHD12 BBS5 CFH DMD GPR179 ITM2B ACBD5 BBS7 CHM DTHD1 GRK1 JAG1 ADAM9 BBS9 CIB2 EFEMP1 GRM6 KCNJ13 ADAMTS18 BEST1 CLN3 ELOVL4 GUCA1A KCNV2 ADGRV1 C10orf11 CLRN1 EMC1 GUCA1B KIAA1549 ADIPOR1 C12orf65 CLUAP1 ERCC6 GUCY2D KIF11 AGBL5 C1QTNF5 CNGA1 EXOSC2 HARS KIZ AHI1 C21orf2 CNGA3 EYS HGSNAT KLHL7 AIPL1 C2orf71 CNGB1 FAM161A HK1 LAMA1 ALMS1 C8orf37 CNGB3 FBLN5 HMCN1 LCA5 APOB CABP4 CNNM4 FBN1 HMX1 LART ARL2BP CACNA1F COL11A1 FLVCR1 IDH3B LRIT3 ARL3 CACNA2D4 COL2A1 FRMD7 IFT140 LRP5 ARL6 CAPN5 COL9A1 FSCN2 IFT172 LZTFL1 ATF6 CC2D2A CRB1 FZD4 IFT27 MAK ATXN7 CDH23 CRX GDF6 IFT81 MAPKAPK3 BBIP1 CDH3 CSPP1 GNAT1 IMPDH1 MERTK BBS1 CDHR1 CWC27 GNAT2 IMPG1 MFN2 BBS10 CEP164 CYP4V2 GNB3 IMPG2 MFRP BBS12 CEP250 DFNB31 GNPTG INPP5E MFSD8 MIR204 OPN1LW PLK4 RDH5 SLC24A1 TUBGCP4 MKKS OPN1MW PNPLA6 REEP6 SLC25A46 TUBGCP6 MKS1 OPN1SW POC1B RGR SLC7A14 TULP1 MTTP OTX2 POMGNT1 RGS9 SNRNP200 UNC119 MVK PANK2 PRCD RGS9BP SPATA7 USH1C MYO7A PAX2 PRDM13 RHO SPP2 USH1G NBAS PCDH15 PROM1 RIMS1 TEAD1 USH2A NDP PCYT1A PRPF3 RLBP1 TIMM8A VCAN NEK2 PDE6A PRPF31 ROM1 TIMP3 WDPCP NEUROD1 PDE6B PRPF4 RP1 TMEM126A WDR19 NMNAT1 PDE6C PRPF6 RP1L1 TMEM216 WFS1 NPHP1 PDE6G PRPF8 RP2 TMEM237 ZNF408 NPHP3 PDE6H PRPH2 RP9 TOPORS ZBF423 NPHP4 PDZD7 PRPS1 RPE65 TREX1 ZNF513 NR2E3 PEX1 RAB28 RPGR TRIM32 NR2F1 PEX2 RAX2 RPGRIP1 TRNT1 NRL PEX7 RB1 RPGRIP1L TRPM1 NYX PGK1 RBP3 RS1 TSPAN12 OAT PHYH RBP4 RTN4IP1 TTC8 OFD1 PITPNM3 RD3 SAG TTLL5 OPA1 PLA2G5 RDH11 SDCCAG8 TTPA OPA3 PLA2G6 RDH12 SEMA4A TUB Panel 2. The list of 1651 genes of clinical exome sequencing. AAAS, AARS, AARS2, ABCA3, ABCA4, ABCB6, ABCB7, ABCC6, ABCC8, ABCD3, ABHD12, ABHD5, ACBD5, ACO2, ACOX1, ACTA2, ACTB, ACTG1, ACVR1C, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL3, ADAMTSL4, ADAR, ADCK3, ADGRG1, ADSL, AFF4, AFG3L2, AGA, AGBL1, AGK, AGPS, AGXT, AHI1, AIPL1, AKT1, ALDH18A1, ALDH1A3, ALG13, ALG2, ALG3, ALMS1, ALX1, ALX3, ALX4, AMPD2, ANO10, ANO5, ANO7, ANTXR1, AP1S1, AP3B1, AP4E1, APOE, APOPT1, APP, APTX, ARHGAP31, ARL13B, ARL2BP, ARL6, ARMS2, ARSA, ARSB, ARSE, ARX, ASB10, ASIP, ASPA, ASPM, ASXL1, ATCAY, ATF6, ATIC, ATM, ATN1, ATOH7, ATP1A2, ATP1A3, ATP2B3, ATP5A1, ATP6V0A2, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, AUH, B3GALNT2, B3GALT6, B3GALTL, B3GAT3, B3GLCT, B3GNT1, B4GALNT1, B9D1, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCOR, BCS1L, BDNF, BEAN1, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP2K, BMP4, BRAF, BRAT1, BRIP1, BTAF1, BTD, BUB1B, C10orf11, C10orf2, C12orf57, C12orf65, C19orf12, C2, C21orf2, C2orf71, C3, C5, C5AR2, C5orf42, C8orf37, C9, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CACNB4, CANT1, CAPN5, CASK, CAV1, CBS, CC2D2A, CCBE1, CCDC28B, CD5, CDH23, CDH3, CDHR1, CDKN2B, CECR1, CEP104, CEP164, CEP250, CEP290, CEP41, CERKL, CETP, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5,CFI, CHD7, CHM, CHMP1A, CHMP4B, CHN1, CHRDL1, CHST14, CHST6, CHSY1, CIB2, CISD2, CKAP2L, CLCN5, CLDN16, CLDN19, CLN3, CLN5, CLP1, CLPB, CLRN1, CLUL1, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CNOT3, CNTN4, COG4, COL11A1, COL11A2, COL18A1, COL1A1, COL25A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLEC11, COQ2, COX10, COX14, COX15, COX20, COX6B1, COX7B, CP, CPT2, CRB1, CREBBP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSNK2A2, CSPP1, CST3, CTC1, CTDP1, CX3CR1, CYP1B1, CYP27A1, CYP2U1, CYP46A1, CYP4V2, CYP51A1, CYP7B1, DAG1, DARS, DARS2, DCN, DCX, DDHD2, DDX58, DES, BFNB31, DGUOK, DHCR24, DHCR7, DHDDS, DIAPH1, DISP1, DKC1, DLAT, DMPK, DMXL1, DNA2, DNAJC19, DNM1L, DNM2, DNMT1, DOCK6, DPAGT1, DPM1, DPM2, DPYD, DRAM2, DTHD1, DTNBP1, EARS2, EBP, ECHS1, EDA, EDN3, EDNRB, EEF2, EFEMP1, EFNB1, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ELP4, EMC1, ENTPD1, EPG5, EPHA2, ERBB3, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, EXO5, EXOSC3, EYA1, EYS, F13B, FA2H, FAH, FA M 111A , FA M 111B , FA M 120A , FA M 126A , FA M 161A , FA N C A , FA N C C , FA N C D 2, FA N C E , FA N C G , FA N C L , FA R 1, FA R S2, FA ST K D 2, FBLN5, FBN1, FBN2, FBXL4, FGF10, FGF14, FGF5, FGF8, FGFR2, FGFR3, FH, FIG4, FKBP14, FKRP, FKTN, FLNB, FLNC, FLVCR1, FMR1, FNBP4, FOXC1, FOXD3, FOXE3, FOXH1, FOXL2, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, GAL3ST3, GALC, GALE, GALK1, GALT, GAN, GATA6, GBA, GBA2, GCM2, GCNT2, GDF3, GDF6, GEMIN4, GFER, GFM1, GGCX, GJA1, GJA3, GJA8, GJB1, GJB6, GJC2, GLA, GLB1, GLI2, GLI3, GLIS3, GMPPA, GMPPB, GNAL, GNAQ, GNAS, GNAT1, GNAT2, GNB5, GNPAT, GNPTG, GPR12, GPR125, GPR143, GRP98, GRID2, GRIP1, GRK1, GRM1, GRM6, GRN, GSN, GSTM1, GSTT1, GTF2H5, GUCA1A, GUCA1B, GUCY2D, GYG2, HARS, HCCS, HDAC6, HDAC8, HESX1, HEY1, HF1, HIBCH, HK1, HMCN1, HMGB3, HMX1, HNRNPDL, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B4, HSD17B4, HSF4, HSPD1, HSPG2, HTRA1, HYLS1, IARS2, IBA57, IDH3B, IDO1, IDUA, IFIH1, IFT122, IFT140, IFT172, IFT27, IKBKAP, IKBKG, IL1A, IMMT, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRF4, IRX5, ISCA2, ISPD, ITM2B, ITPR1, JAG1, JAM3, KAL1, KANK1, KANSL1, KAT6B, KATNIP, KCNA1, KCNC3, KCND3, KCNH1, KCNJ13, KCNV2, KCTD1, KDM5C, KDM6A, KIAA0586, KIAA1549, KIF11, KIF1A, KIF1B, KIF1C, KIF21A, KIF2A, KIF7, KIZ, KLHL7, KMT2D, KRAS, KRT12, KRT2, L2HGDH, LAMA1, LAMB1, LAMB2, LAMTOR2, LCA5, LCAT, LDB3, LEPREL1, LIM2, LIPC, LIPT1, LMNB1, LMX1B, LONP1, LOXHD1, LOXL1, LRAT, LRIT3, LRP2, LRP5, LRPAP1, LRPPRC, LRRC4, LSS, LTBP2, LUM, LYST, LZTFL1, MAB21L2, MAF, MAGEL2, MAK, MAN2B1, MAP2, MAP2K1, MAP2K2, MAP6, MARS2, MASP1, MATP, MBD5, MBTPS2, MC1R, MCOLN1, MED12, MED13, MED25, MERTK, MFN2, MFRP, MFSD8, MICU1, MIP, MIR184, MIR96, MITF, MKKS, MKS1, MLPH, MMACHC, MMADHC, MMP3, MMP9, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPLKIP, MPV17, MPZ, MRE11A, MTAP, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRR, MUTYH, MVK, MYH11, MYH3, MYH9, MYLK, MYO15A, MYO5A, MYO7A, MYOC, MYOT, NAA10, NADK2, NAGA, NALCN, NBAS, NDN, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK2, NEI1, NEUROD1, NF1, NF2, NHS, NIPBL, NMNAT1, NOD2, NODAL, NOP56, NOS3, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRAS, NRL, NSD1, NT5C1B, NT5C2, NTF4, NUBPL, NUP62, NXNL1, NYX, OAT, OCA2, OCLN, OCRL, ODZ3, OFD1, OGG1, OLFM2, OPA1, OPA3, OPHN1, OPN1LW, OPN1SW, OPTC, OPTN, OR2W3, OSMR, OSTM1, OTX2, P3H2, PAH, PAK7, PANK2, PAX2, PAX3, PAX6, PCDH15, PCK1, PCLO, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDGFRB, PDHX, PDP1, PDSS1, PDSS2, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX16, PEX2, PEX26, PEX5, PEX7, PGAM5, PHF6, PHGDH, PHIP, PHOX2A, PHYH, PIEZO2, PIGN, PIGT, PIK3CA, PIK3R1, PIK3R5, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G6, PLCG2, PLDN, PLK4, PLOD1, PLOD3, PLP1, PMM2, PMP22, PNPLA6, PCO1B, POLG, POLG2, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PORCN, PPARGC1A, PPP2R5D, PPT1, PQBP1, PRCD, PRDM13, PRDM5, PRICKLE2, PRIMPOL, PRKAR1A, PRKCG, PRNP, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH, PRPH2, PRPS1, PRRT2, PRSS12, PRSS56, PRX, PSAP, PTCH1, PTCH2, PTEN, PTH, PTPN11, PURA, PVRL3, PXDN, PYCR1, RAB18, RAB23, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RAD54B, RAG1, RARB, RARS, RAX, RAX2, RAXL1, RB1, RBBP8, RBM10, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, RECQL4, RELN, RET, RGR, RHO, RIMS1, RIPK4, RLBP1, RNASEH2C, RNASET2, RNLS, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27A, RPS28, RPS29, RPS7, RPTOR, RRM2B, RS1, RUBCN, RYR1, SACS, SAG, SALL1, SALL4, SBF2, SC5D, SCARB1, SCARF2, SCN1A, SCN2A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEC23A, SEMA3E, SEMA4A, SEPSECS, SERAC1, SERPINF1, SERPING1, SERPINI1, SETX, SH3PXD2B, SH3TC2, SHH, SIL1, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC16A12, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A3, SLC24A1, SLC24A4, SLC24A5, SLC25A4, SLC25A46, SLC2A10, SLC33A1, SLC35A2, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A3, SLC4A4, SLC52A2, SLC7A14, SLC9A1, SLC9A6, SLITRK6, SLURP1, SMAD3, SMAD4, SMARCAL1, SMC3, SMOC1, SMS, SNAI2, SNIP1, SNRNP200, SNRPN, SNX10, SNX14, SNX3, SOD2, SOST, SOX10, SOX2, SPAST, SPATA5, SPATA7, SPG11, SPG7, SPP2, SPRTN, SPTBN2, SRD5A3, SRPX, ST3GAL5, STAMBP, STK11, STRA6, STS, STT3B, STUB1, SUCLA2, SUCLG1, SUFU, SURF1, SYNE1, SYT14, TACO1, TACSTD2, TAF2, TAL1, TAT, TBC1D20, TBC1D24, TBC1D7, TBK1, TBP, TBX15, TCF4, TCF7L1, TCF7L2, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TECTA, TEBN3, TF, TFAP2A, TFG, TGFB1, TGFB2, TGFBI, TGFBR1, TGFBR2, TGIF1, THOC6, TIMM8A, TIMP3, TINF2, TLR4, TMCO1, TMEM114, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TMEM98, TNF, TNFRSF10A, TNFRSF11A, TNFSF11, TNXB, TOPORS, TO53, TPCN2, TPP1, TRAF3IP1, TRAPPC11, TREX1, TRIM32, TRPM1, TSFM, TSPAN12, TTBK2, TTC19, TTC21B, TTC8, TTLL5, TTPA, TTR, TUB, TUBA1A, TUBB, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TULP1, TULP3, TWIST1, TYR, TYRP1, UBE3A, UBE3B, UBE3E, UBIAD1, UCHL1, UNC119, UNC45B, UQCRQ, UROC1, USH1C, USH1E, USH1G, USH1H, USH1K, USH2A, VAX1, VCAN, VHL, VIM, VLDLR, VPS13B, VPS37A, VSX1, VSX2, WDPCP, WDR19, WDR36, WDR73, WFS1, WNT3, WRN, WT1, WWOX, XKR4, XRCC1, XYLT2, YAP1, YARS2, ZBTZ20, ZEB1, ZFYVE26, ZIC2, ZNF335, ZNF408, ZNF423, ZNF469, ZNF513, ZNF592, ZNF644, ZNRF1, ZSWIM6, AASS, ABAT, ABCA1, ABCA12, ABCC9, ABCD1,