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Table 1 IRD panel test samples

From: Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Samples Phenotype Gene Chr location Nt change Prot change Status Detection method Cvg mut
1 XLRP RPGR X:38145845 c.2405-2406delAG p.E802Gfs*32 HEMI WES 26
2 ARRP CRB1 1:197403836 c.2843G > A p.C948Y HOM Reseq 125
3 ARRP USH2A 1:215955412 c.10712C > T p.T3571M HET Asper 160
USH2A 1:216420460 c.2276G > T p.C759F HET Asper 70
4 USHER CDH23 10:73553078 c.6393delC p.I2132Sfs*11 HOM Asper 176
5 ARRP MERKT 2:112751826 c.1297-2A > G Splicing HOM Reseq 39
6 ARRP RDH12 14:68196055 c.806_810del5 p.A269Gfs*2 HOM Reseq 136
7 ARRP CNGA1 4:47954625 c.301C > T p.R101* HOM Reseq 19
8 ADRP RP1 8:55538471 c.2029C > T p.R677* HET Asper 247
9 ADRP PRPF3 1:150316692 c.1481C > T p.T494M HET Asper 35
10 XLRP RP2 X:46713107 c.299dupT p.F101Vfs*23 HEMI Sanger 24
11 STGD ABCA4 1:94506901 c.3386G > T p. R1129L HET Asper 24
ABCA4 1:94508434 c.3210_3211insGT p.S1071Vfs*14 HET Asper 24
12 ARRP NR2E3 15:72105913 c.932G > A p.R311Q HOM Reseq 28
RDH12 14:68195950 c.701G > A p.R234H HET Reseq 51
13 ARRP RHO 3:129252539 c.1025C > T p.T342M HOM Reseq 29
14 ADRP PRPH2 6:42672285 c.646C > T p.P216S HET Asper 45
15 USHER MYO7A 11:76867944 c.626C > A p.S210* HOM Asper 16
16 ADRP RHO 3:129251107 c.544G > A p.G182S HET Reseq 31
17 ARRP EYS 6:64776240 c.6714delT p.I2239Sfs*17 HOM Sanger 13
18 ARRP CERKL 2:182423344 c.769C > T p.Arg257* HOM Asper 73
  1. WES: Whole Exome Sequencing; Reseq: Custom genome resequencing microarray; Asper: commercially available microarray analysis (Asper Biotech); Sanger: Sanger sequencing.