Table 1.
The distinct variants in index patients with RPGR-related cone-rod dystrophy and cosegregation analysis. Nucleotide positions correspond to NM_001034853.2 for RPGRORF15.
| ID | Sex | cDNA | Protein Change | Reference | |
|---|---|---|---|---|---|
| CIC03862 | M | Index | c.2931_2932ins29 | p.(Glu978Lysfs*121) | This study |
| 782819 | M | Index | c.3276del | p.(Gly1093Aspfs*3) | This study |
| CIC09352 | M | Index | c.3261del | p.(Val1088*) | This study |
| CIC04404 | M | Index | c.3178_3179del | p.(Glu1060Argfs*18) | García-Hoyos, 2006 [18] |
| CIC02893 | M | Index | c.3399del | p.(Pro1134Hisfs*18) | Mawatary, 2019 [19] |
| CIC03560 | M | Index | c.3248_3252del | p.(Glu1083Valfs*17) | This study |
| CIC06538 | M | Index | c.3317dup | p.(Ser1107Valfs*4) | Demirci, 2005 [20] |
| CIC02863 | M | Index | c.2719G>T | p.(Glu907*) | This study |
| CIC07494 | M | Index | c.3039_3040del | p.(Glu1014Glyfs*64) | Zahid, 2013 [16] |
| CIC06631 | M | Index | c.3119_3120del | p.(Glu1040Glyfs*38) | This study |
| c.3074_3085del | p.(Val1025_Glu1028del) | Olm, 2019 [21] | |||
| CIC04447 | M | Index | c.3134_3137del | p.(Glu1045Glyfs*43) | This study |
| CIC04647 | M | Index | c.2872G>T | p.(Glu958*) | Shu, 2007 [22] |
| CIC09451 | M | Index | c.3178_3179del | p.(Glu1060Argfs*18) | García-Hoyos, 2006 [18] |
| CIC07574 | M | Index | c.3039_3040del | p.(Glu1014Glyfs*64) | Zahid, 2013 [16] |
| CIC07658 | M | Index | c.2985_2993delinsAGAAGGGG | p.(Glu997Glyfs*92) | This study |
| CIC07798 | M | Index | c.3146_3147del | p.(Glu1049Glyfs*29) | This study |
| CIC08152 | M | Index | c.3334C>T | p.(Gln1112*) | This study |
| CIC08901 | M | Index | c.3212dup | p.(Thr1072Aspfs*7) | This study |
| CIC09159 | M | Affected brother | c.3212dup | p.(Thr1072Aspfs*7) | This study |
| CIC08918 | M | Index | c.2678G>T | p.(Gly893Val) | This study |
| CIC09067 | M | Index | c.3178_3179del | p.(Glu1060Argfs*18) | García-Hoyos, 2006 [18] |
| CIC09151 | M | Affected brother | c.3178_3179del | p.(Glu1060Argfs*18) | García-Hoyos, 2006 [18] |
| CIC8950 | M | Index | c.3104_3105del | p.(Glu1035Glyfs*43) | Mawatary, 2019 [19] |
| CIC01063 | M | Index | c.3074_3085del | p.(Val1025_Glu1028del) | Olm, 2019 [21] |
| c.3092del | p.(Glu1031Glyfs*58) | Bader, 2003 [23] | |||
| CIC10466 | M | Index | c.3395dup | p.(Asn1132Lysfs*12) | This study |
| CIC09949 | M | Index | c.2966del | p.(Glu989Glyfs*100) | This study |
| CIC10733 | M | Index | c.3134_3137del | p.(Glu1045Glyfs*43) | This study |
| CIC08066 | M | Index | c.3178_3179del | p.(Glu1060Argfs*18) | García-Hoyos, 2006 [18] |
| CIC04835 | M | Index | c.2956G>T | p.(Gly986*) | This study |
| CIC03515 | M | Index | c.3178_3179del | p.(Glu1060Argfs*18) | García-Hoyos, 2006 [18] |
| CIC07400 | M | Index | c.3077_3081del | p.(Glu1026Glyfs*51) | This study |
| CIC09653 | M | Index | c.2236_2237del | p.(Glu746Argfs*23) | Vervoort, 2000 [8] |
| CIC04850 | M | Index | c.3071_3080del | p.(Glu1024Glyfs*62) | This study |
| CIC01503 | M | Index | c.2820_2840dup | p.(Asp943_Glu949dup) | Vervoort, 2000 [8] |
| c.3134_3138del | p.(Glu1045Glyfs*32) | This study | |||
| 1659193 | M | Index | c.2731G>T | p.(Glu911*) | This study |
| CIC01418 | M | Index | c.3146_3149del | p.(Glu1049Glyfs*39) | This study |