P222-A2 MLPA probemix lot 0511 THE REFERENCE PROBES Quality control fragments Binset 1 Binset 2 Binset 3 Autobin 1 Autobin 2 Autobin 3 Autobin 4 Autobin 5 Analysis Settings Recommended Options Gene Chr pos Length (nt) MV36 Recommended Order actual lenghts (nt) Length (nt) Gene Fragment Name Fragment Detected Length Metric PA Peak areas (PA) / Peak heights (PH) Reference probe 04235-L08770 08p22 124 c 39 124 124 Reference probe 04235-L08770 Conc. Frag 1 61 Reference: RR Entered reference runs (RR) / All sample runs (SR) GUCY2D probe 07036-L06647 17p13.1 130 17-007.9 GUCY2D Exon 03 29 130 166 Reference probe 01588-L01160 Conc. Frag 2 68 Avr / Med References: AR Average on reference runs (AR) / Median on reference runs (MR) RPGRIP1 probe 07023-L06634 14q11.2 139 14-020.9 RPGRIP1 Exon 10 9 139 190 Reference probe 03574-L02400 Conc. Frag 3 74 Normalization factor: CP Control probes (CP) / All probes (AP) RDH12 probe 08890-L09782 14q24.1 143 14-067.3 RDH12 Exon 05 23 143 266 Reference probe 00830-L00345 Conc. Frag 4 80 Regression Method CLS No regression (NR) / Least median squares (LMS) / Least squares (LS) / Coffalyser Least squares (CLS) RPGRIP1 probe 07018-L06629 14q11.2 148 14-020.9 RPGRIP1 Exon 02 4 148 378 Reference probe 05921-L05366 Ligation dep. 92 Regression Model LOG Linear / LOG GUCY2D probe 07038-L06649 17p13.1 154 17-007.9 GUCY2D Exon 07 31 154 427 Reference probe 00680-L00121 Y-specific fragments 105 Equilization RSV "No equilization (NE), Pre-normalization (PN) / Total control probes (TCP) / Remove structural variation (RSV)" GUCY2D probe 07040-L06651 17p13.1 159 17-007.9 GUCY2D Exon 12 33 159 DD FRAG 88 89 Probes for regression model AP Control probes (CP) / All probes (AP) Reference probe 01588-L01160 17p13 166 c 40 166 DD FRAG 96 97 RPGRIP1 probe 07032-L06643 14q11.2 172 14-020.9 RPGRIP1 Exon 22 18 172 RPGRIP1 probe 07021-L06632 14q11.2 177 14-020.9 RPGRIP1 Exon 06 7 177 Mutation specific probes RPGRIP1 probe 07024-L06635 14q11.2 184 14-020.9 RPGRIP1 Exon 11 10 184 Mutation specific fragments Fragment Detected Length Reference probe 03574-L02400 07q31 190 c 37 190 X-specific fragments 100 RPGRIP1 probe 07033-L08019 14q11.2 195 14-020.9 RPGRIP1 Exon 23 19 195 GUCY2D probe 07035-L06646 17p13.1 202 17-007.9 GUCY2D Exon 02 28 202 RPGRIP1 probe 07019-L06630 14q11.2 208 14-020.9 RPGRIP1 Exon 03 5 208 RPGRIP1 probe 07025-L06636 14q11.2 214 14-020.9 RPGRIP1 Exon 13 11 214 RPGRIP1 probe 07029-L06640 14q11.2 220 14-020.9 RPGRIP1 Exon 19 15 220 RDH12 probe 08889-L08851 14q24.1 230 14-067.3 RDH12 Exon 04 22 230 RPGRIP1 probe 07030-L06641 14q11.2 238 14-020.9 RPGRIP1 Exon 20 16 238 GUCY2D probe 07037-L06648 17p13.1 247 17-007.9 GUCY2D Exon 05 30 247 GUCY2D probe 07039-L08018 17p13.1 256 17-007.9 GUCY2D Exon 10 32 256 RPGRIP1 probe 07031-L06642 14q11.2 261 14-020.9 RPGRIP1 Exon 21 17 261 Reference probe 00830-L00345 17q21 266 c 42 266 CEP290 probe 08887-L08849 12q21.32 274 12-087.0 CEP290 Intron 26B 2 274 GUCY2D probe 07041-L06652 17p13.1 283 17-007.9 GUCY2D Exon 14 34 283 RPGRIP1 probe 07017-L06628 14q11.2 292 14-020.9 RPGRIP1 Exon 01 3 292 RPGRIP1 probe 07022-L06633 14q11.2 301 14-020.9 RPGRIP1 Exon 08 8 301 RPGRIP1 probe 07028-L06639 14q11.2 310 14-020.9 RPGRIP1 Exon 18 14 310 RDH12 probe 08892-L08854 14q24.1 319 14-067.3 RDH12 Exon 07 25 319 RPGRIP1 probe 07020-L06631 14q11.2 328 14-020.9 RPGRIP1 Exon 04 6 328 GUCY2D probe 07042-L06653 17p13.1 337 17-007.9 GUCY2D Exon 17 35 337 RPGRIP1 probe 07027-L06638 14q11.2 346 14-020.9 RPGRIP1 Exon 16 13 346 RPGRIP1 probe 07034-L06645 14q11.2 355 14-020.9 RPGRIP1 Exon 24 20 355 RDH12 probe 08893-L08855 14q24.1 364 14-067.3 RDH12 Exon 08 26 364 RPGRIP1 probe 08141-L06637 14q11.2 370 14-020.9 RPGRIP1 Exon 14 12 370 Reference probe 05921-L05366 17q11 378 c 41 378 GUCY2D probe 07043-L06654 17p13.1 382 17-007.9 GUCY2D Exon 20 36 382 RDH12 probe 08891-L08853 14q24.1 391 14-067.3 RDH12 Exon 06 24 391 CEP290 probe 08886-L08848 12q21.32 400 12-087.0 CEP290 Intron 26A 1 400 RDH12 probe 08894-L08856 14q24.1 408 14-067.3 RDH12 Exon 09 27 408 RDH12 probe 08888-L08850 14q24.1 418 14-067.3 RDH12 Exon 03 21 418 Reference probe 00680-L00121 07q35 427 c 38 427