Table 2. Known variants identified in this study.
| NM_015560.2 | NP_056375.2a | Exon/Intron | HGMDb |
|---|---|---|---|
| c.6G>A | p.(W2*) | Exon 1 | CM012163 |
| c.112C>T | p.(R38*) | Exon 2 | CM024785 |
| c.154C>T | p.(R52*) | Exon 2 | CM076368 |
| c.557-668G>A | p.(S187Afs*28)/p.(S187Afs*29) | Intron 4 | CS147231 |
| c.557-672G>A | p.(G186Afs*9) | Intron 4 | CS147232 |
| c.629C>A | p.(S210*) | Exon 6 | CM012164 |
| c.631_634del | p.(D211Kfs*16) | Exon 6 | CD072458 |
| c.635_636del | p.(K212Rfs*4) | Exon 6 | CD012268 |
| c.639_640del | p.(K214Nfs*2) | Exon 6 | CD104762 |
| c.655C>T | p.(Q219*) | Exon 6 | CM111745 |
| c.703C>T | p.(R235*) | Exon 7 | CM136994 |
| c.784-1G>A | p.(K262_R290del) | Intron 7 | CS080724 |
| c.784-2A>G | p.(?) | Intron 7 | CS1410777 |
| c.808G>A | p.(E270K) | Exon 8 | CM012165 |
| c.815T>C | p.(L272P) | Exon 8 | CM031310 |
| c.818A>C | p.(D273A) | Exon 8 | CM012166 |
| c.869G>A | p.(R290Q) | Exon 8 | CM002636 |
| c.868C>T | p.(R290W) | Exon 8 | CM012167 |
| c.870+1del | p.(?) | Intron 8 | LOVD-ID:OPA1_000475 |
| c.870+1G>A | p.(?) | Intron 8 | CS1410779 |
| c.870+5G>A | p.(?) | Intron 8 | CS012215 |
| c.895G>C | p.(A299P) | Exon 9 | CM080471 |
| c.932del | p.(A311Vfs*11) | Exon 9 | CD012270 |
| c.937_938delinsGA | p.(I313E) | Exon 9 | CP015804 |
| c.984+2T>A | p.(V291_K328del) | Intron 9 | CS080725 |
| c.984+3A>T | p.(?) | Intron 9 | CS024779 |
| c.992T>C | p.(L331P) | Exon 10 | CM131132 |
| c.1065+1G>A | p.(V329_D355del) | Intron 10 | CS080718 |
| c.1065+3A>C | p.(?) | Intron 10 | CS012216 |
| c.1065+5G>A | p.(?) | Intron 10 | CS1410781 |
| c.1072_1093del | p.(A358Ffs*3) | Exon 11 | PMID:11440988 |
| c.1096C>T | p.(R366*) | Exon 11 | CM002638 |
| c.1126A>G | p.(T376A) | Exon 11 | CM014008 |
| c.1140G>A | p.(L356_E380del) | Exon 11 | CS061311 |
| c.1140+1dup | p.(L356_E380del) | Intron 11 | CI080971 |
| c.1140+5G>C | p.(L356_E380del) | Intron 11 | CS080719 |
| c.1410_1443+4del | p.(V452_R481del) | Exon 14/Intron 14 | CG084686 |
| c.1146A>G | p.(I382M) | Exon 12 | CM080464 |
| c.1153_1154del | p.(N385Cfs*13) | Exon 12 | CD012271 |
| c.1198C>T | p.(P400S) | Exon 12 | CM080462 |
| c.1199C>T | p.(P400L) | Exon 12 | CM080465 |
| c.1212_1212+4del | p.(?) | Intron 12 | CD056198 |
| c.1212+1G>A | p.(T381_N404del) | Intron 12 | CS014017 |
| c.1212+1G>T | p.(?) | Intron 12 | CS013627 |
| c.1212+5G>C | p.(T381_N404del) | Intron 12 | CS080720 |
| c.1213-2A>G | p.(T405fs*9) | Intron 12 | CS094201 |
| c.1279C>T | p.(Q427*) | Exon 13 | CM080466 |
| c.1296_1298del | p.(I433del) | Exon 13 | CD002706 |
| c.1301T>C | p.(L434P) | Exon 13 | CM1814099 |
| c.1313A>G | p.(D438G) | Exon 14 | CM066157 |
| c.1313A>T | p.(D438V) | Exon 14 | CM012169 |
| c.1334G>A | p.(R445H) | Exon 14 | CM030379 |
| c.1346dup | p.(D450Rfs*38) | Exon 14 | CI080972 |
| c.1354del | p.(V452Sfs*15) | Exon 14 | CD002707 |
| c.1402A>G | p.(K468E) | Exon 14 | CM012170 |
| c.1481_1494del | p.(K494Ifs*12) | Exon 15 | CD080877 |
| c.1516+1G>A | p.(?) | Intron 15 | CS152761 |
| c.1516+1G>C | p.(I482Gfs*10) | Intron 15 | CS080721 |
| c.1516+3A>G | p.(I482Gfs*10) | Intron 15 | LOVD-ID:OPA1_000582 |
| c.1560_1562del | p.(E521del) | Exon 16 | CD094188 |
| c.1645dup | p.(S549Ffs*13) | Exon 17 | CI002739 |
| c.1652_1654del | p.(C551del) | Exon 17 | CD012272 |
| c.1687C>T | p.(Q563*) | Exon 17 | CM126970 |
| c.1705+1G>T | p.(V556Qfs*40) | Intron 17 | CS061312 |
| c.1771-2A>G | p.(?) | Intron 18 | CS094209 |
| c.1778T>C | p.(L593P) | Exon 19 | CM094166 |
| c.1847+4_1847+7del | p.(?) | Intron 19 | CD094193 |
| c.1879A>T | p.(R627*) | Exon 20 | CM094169 |
| c.1881_1882del | p.(R627Sfs*7) | Exon 20 | CD031533 |
| c.1892_1893del | p.(H631Rfs*3) | Exon 20 | CD094194 |
| c.2013G>A | p.(A673Rfs*3) | Exon 20 | CS061314 |
| c.2014-1G>A | p.(V672Lfs*14) | Intron 20 | CS061313 |
| c.2119G>T | p.(E707*) | Exon 21 | CM130780 |
| c.2125_2138del14ins12 | p.(I709Gfs*7) | Exon 21 | CX012305 |
| c.2131C>T | p.(R711*) | Exon 21 | CM013590 |
| c.2142G>A | p.(W714*) | Exon 21 | CM1410789 |
| c.2197C>T | p.(R733*) | Exon 22 | CM086329 |
| c.2241del | p.(F747Lfs*53) | Exon 22 | LOVD-ID:OPA1_000579 |
| c.2354A>G | p.(Q785R) and p.(T759Mfs*5) | Exon 23 | CM012175 |
| c.2355+1G>A | p.(T759Mfs*5) | Intron 23 | CS067103 |
| c.2396T>A | p.(L799*) | Exon 24 | CM080472 |
| c.2470C>T | p.(R824*) | Exon 24 | CM066156 |
| c.2569C>T | p.(R857*) | Exon 25 | CM094173 |
| c.2586_2587insA | p.(Y863Ifs*9) | Exon 25 | CI080973 |
| c.2613+1G>C | p.(?) | Intron 25 | CS012219 |
| c.2614-1G>A | p.(?) | Intron 25 | CS094217 |
| c.2614-9A>G | p.(L872_Q884del) | Intron 25 | CS068103 |
| c.2707+2T>C | p.(E873Gfs*3) | Intron 26 | CS012220 |
| c.2708-1G>T | p.(V903Gfs*3) | Intron 26 | CS061315 |
| c.2708_2711del | p.(V903Gfs*3) | Exon 27 | CD002708 |
| c.2713C>T | p.(R905*) | Exon 27 | CM012176 |
| c.2729T>A | p.(V910D) | Exon 27 | CM080468 |
| c.2790_2798delins9 | p.(R932_V933delinsHR) | Exon 27 | CX080992 |
| c.2797G>A | p.(V933I) | Exon 27 | CM104765 |
| c.2815del | p.(L939Sfs*29) | Exon 27 | CD104766 |
| c.2818+1G>A | p.(?) | Intron 27 | CS170561 |
| c.2818+5G>A | p.(V903_K940delinsE) | Intron 27 | CS080722 |
| c.2819-2A>C | p.(K940_V942delinsI) | Intron 27 | CS080723 |
| c.2825_2828del | p.(V942Efs*25) | Exon 28 | CD002709 |
| c.2844dup | p.(L949Tfs*2) | Exon 28 | CI1814095 |
| g.193,310,511_193,312,933 delins193,310,603_193,311,825 [193,310,603_193,310,540inv] | p.(0?) | Exon 1 | PMID:33243194 |
| c.(?_-1)_(2818+1_2819–1)del | p.(0?) | Exon 1–27 | CG091336 |
| c.(?_-1)_(624+1_625–1)del | p.(0?) | Exon 1–5 | CG091338 |
| c.871-162_985-1789delinsGTGATTGATGCA | p.(?) | Exon 9 | CG091339 |
| c.2356-586_2497-616del | p.(C786_L832del) | Exon 24 | CG091337 |
| c.(2496+1_2497–1)_(2707+1_2708–1)del | p.(I833Lfs*4) | Exon 25–26 | CG112206 |
| c.678+674_984+2026dup | p.(L227_K328dup) | Exon 7–9 | CN091340 |
| c.(?_-1)_(*3211_?)del | p.(0?) | Entire gene | CG091335 |
aprotein level for splicing variant was given when established by cDNA analysis
bin case variant is not listed in HGMD, identifier of LOVD or Pubmed is given