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Table 2 General situation of families with likely pathogenic mutations or related mutations of undetermined significance

From: Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

Fa Np Gene Transcript RefSeq Ex NA Changes AA changes Hzyo Pf Reported Gm OMIM Disease SPM ACMG grade
8 1 USH2A NM_206933 41 c.8002G > T p.E2668X Het – Novel AR Usher 2A/RP, 39 / / +  PVS1 + PM2
USH2A NM_206933 13 c.2802 T > G p.C934W Het 2.441e−3/1.915e−4 Yes[44] AR Usher 2A/RP, 39  +  +  +  PS1 + PM2 + PP3
10 1 USH2A NM_206933 63 c.12608A > G p.Q4203R Het 9.457e−3/ 3.677e−3 Novel AR Usher 2A/RP, 39 – PM2 + BP4
USH2A NM_206933 22 c.4758 + 3A > G Splicing Het 1.855e−2/ 1.457e−3 Yes[64] AR Usher 2A/RP, 39 / / / PS1 + PM2
23 1 USH2A NM_206933 66 c.14411G > A p.G4804E Het – Novel AR Usher 2A/RP, 39 / / +  PM2
USH2A NM_206933 19 c.4217C > A p.S1406X Het – Novel AR Usher 2A/RP, 39  +  +  +  PVS1 + PM2 + PP3
53 1 USH2A NM_206933 65 c.14287G > A p.G4763R Het – Yes[65] AR Usher 2A/RP, 39  +  +  +  PS1 + PM2 + PP3
USH2A NM_206933 4 c.784 + 2 T > G Splicing Het – Novel AR Usher 2A/RP, 39 / / / PVS1 + PM2
19 1 USH1C NM_153676 5 c.407G > A p.R136Q Het 1.16e−4/ 1.223e−4 Novel AR Usher 1C / / +  PM2
USH1C NM_153676 15 c.1250C > T p.T417I Het – Novel AR Usher 1C / / +  PM2
13 1 BBS2 NM_031885 6 c.626 T > C p.L209P Het – Yes[66] AR RP, 74  +  +  +  PS1 + PM2 + PP3
BBS2 NM_031885 1 c.79A > C p.T27P Het – Novel AR RP, 74 – PM2 + BP4
25 1 LRP5 NM_002335 15 c.3361A > G p.N1121D Het 7.528e−3/ 5.616e−4 Yes[67] AR FEVR4  +  +  +  PS1 + PM2 + PP3
LRP5 NM_002335 18 c.3901G > A p.A1301T Het 2.403e−3/ 2.149e−4 Novel AR FEVR4 − PM2 + BP4
56 1 LRP5 NM_002335 15 c.3377 T > C p.L1126P Het – Novel AR FEVR4  +  +  +  PM2 + PP3
LRP5 NM_002335 22 c.4519G > T p.D1507T Het – Novel AR FEVR4  +  +  +  PM2 + PP3
24 1 ABCA4 NM_000350 5 c.553C > T p.Q185X Het – Yes[68] AD AMD2  +  +  +  PVS1 + PS1 + PM2 + PP3
26 1 RS1 NM_000330 4 c.240G > C p.Q80H Hemi – Novel XLR Retinoschisis / / +  PM2 + PP4
29 1 GPR143 NM_000273 2 c.263G > A p.R88Q Hemi – Novel XL Nystagmus 6  +  +  +  PM2 + PP3
31 1 FBN2 NM_001999 30 c.3923dupG p.C1308Wfs*5 Het – Novel AD EMD / / / PVS1 + PM2
  1. Fa denotes Family No.; Np denotes the number of patients; Ex denotes an exon; NA denotes nucleic acid; AA denotes amino acid; Hzyo denotes heterozygosity; Pf denotes the population frequency recorded in the gnomAD database; Gm denotes the genetic model; Disease denotes OMIM disease; SPM denotes SIFT, PolyPhen_2 and Mutation t@sting predicting, ‘ + ’ denotes damaging, ‘-’ denotes benign, and ‘/’ denotes no data. Usher 2A denotes Usher syndrome, type 2A; RP,39 denotes retinitis pigmentosa, type 39; Usher 1C denotes Usher syndrome, type 1C; RP,74 denotes retinitis pigmentosa, type 74; FEVR4 denotes familial exudative vitreoretinopathy, type 4; AMD2 denotes age-related macular degeneration, type 2; Nystagmus 6 denotes nystagmus, type 6, congenital, X-linked; EMD denotes macular degeneration, early onset
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BMC Medical Genomics

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