Table 1.
Clinical data, molecular details, mutation type, and mutation location by tertile and domain.
| ID Code | Age | Sex | OPG | DNA Change | RNA Change | Protein Change | Type | Tertile | Domain |
|---|---|---|---|---|---|---|---|---|---|
| 162 | 60 | f | yes | c.1-?_60+? del | r.(?) | p.(?) | LD | 1 | nd |
| 6 | 30 | f | yes | c.21_22delGG | r.(?) | p.Glu8Metfs*29 | FS | 1 | nd |
| 112 | 15 | f | yes | c.60+1G>A | r.(?) | p.(?) | SS | 1 | nd |
| Calì et al. 1 [38] | 29 | f | yes | c.61-2A>C | r.(?) | p.(?) | SS | 1 | nd |
| 8 | 12 | f | yes | c.61-?_204+?del | r.61_204del | p.Leu21_Met68del | LD | 1 | nd |
| 24 | 31 | f | no | c.61-?_288+?del | r.61_288del | p.Leu21_Gly96del | LD | 1 | nd |
| 139 | 6 | f | yes | c.61-?_288+?del | r.61_288del | p.Leu21_Gly96del | LD | 1 | nd |
| Bonatti et al. 1 [37] | na | m | yes | c.61-?_2325+?del | r.(?) | p.Leu21_Glu775del | LD | 1 | CSRD |
| Tsipi et al. 38 [33] | 55 | na | no | c.86_87delAC | r.(?) | p.His31Tyrfs*6 | FS | 1 | nd |
| 136 | 35 | f | no | c.99A>G | r.100_204del | p.Val34_Met68del | SS | 1 | nd |
| 177 | 11 | f | yes | c.185dupT | r.(?) | p.Leu62Phefs*5 | FS | 1 | nd |
| 76 | 42 | f | no | c.205_288del | r.205_288del | p.Arg69_Gly96del | LD | 1 | nd |
| 153 | 21 | m | no | c.236T>G | r.(?) | p.Leu79* | NS | 1 | nd |
| 46 | 36 | f | yes | c.247C>T | r.(?) | p.Gln83* | NS | 1 | nd |
| 65 | 9 | f | yes | c.247delCinsGAGA | r.(?) | p.Gln83delinsGluLys | ID | 1 | nd |
| 30 | 53 | m | no | c.252delG | r.(?) | p.Ile85fs*18 | FS | 1 | nd |
| 127 | 59 | m | no | c.259_264delTTGGATinsAA | r.259_264deluuggauinsaa | p.Leu87Lysfs*15 | FS | 1 | nd |
| 109 | 71 | f | no | c.288+1delG | r.288_288del | p.Gln97Asnfs*6 | SS | 1 | nd |
| 250 | 34 | m | no | c.288+5G>A | r.205_288del | p.Arg69_Gly96del | SS | 1 | nd |
| 256 | 26 | f | no | c.288+5G>C | r.(?) | p.(?) | SS | 1 | nd |
| 244 | 33 | m | no | c.288+1138C>T | r.288_289 ins 288+1019_288+1136ins118 | p.Gly96_Glu 97ins39aa+fs *10 | SS | 1 | nd |
| Tsipi et al. 114 [33] | 7 | na | yes | c.350_351insT | r.(?) | p.Cys118Leufs*9 | FS | 1 | nd |
| 79 | 35 | f | yes | c.479G>T | r.289_479del | p.Gln97Valfs*13 | SS | 1 | nd |
| 31 | 75 | f | no | c.484C>T | r.(?) | p.Gln162* | NS | 1 | nd |
| 7 | 44 | m | no | c.493delA | r.(?) | p.Thr165Leufs*13 | FS | 1 | nd |
| 131 | 50 | f | no | c.495_498delTGTT | r.495_498del | p.Thr166fs*11 | FS | 1 | nd |
| 68 | 28 | f | yes | c.495_498delTGTT | r.495_498del | p.Thr166fs*11 | FS | 1 | nd |
| 61 | 39 | f | no | c.499_502delTGTT | r.(?) | p.Cys167Glnfs*10 | FS | 1 | nd |
| 183 | 26 | m | no | c.499_502delTGTT | r.(?) | p.Cys167Glnfs*10 | FS | 1 | nd |
| Terzi et al. 23 [40] | na | na | yes | c.499_502delTGTT | r.(?) | p.Cys167Glnfs*10 | FS | 1 | nd |
| Tsipi et al. 90 [33] | 15 | na | yes | c.501T>A | r.(?) | p.Cys167* | NS | 1 | nd |
| 171 | 29 | m | no | c.539T>G | r.539u>g | p.Leu180* | NS | 1 | nd |
| 44 | 57 | f | no | c.574C>T | r.574c>u | p.Arg192* | NS | 1 | nd |
| 57 | 44 | f | no | c.574C>T | r.574c>u | p.Arg192* | NS | 1 | nd |
| 160 | 17 | f | yes | c.574C>T | r.574c>u | p.Arg192* | NS | 1 | nd |
| 188 | 56 | f | no | c.586+1G>T | r.(?) | p.(?) | SS | 1 | nd |
| 180 | 44 | m | no | c.586+4dupA | r.(?) | p.(?) | SS | 1 | nd |
| 193 | 46 | f | no | c.647_649delTGG | r.(?) | p.Leu216_Glu217delinsGln | ID | 1 | nd |
| 175 | 27 | f | no | c.615_616delGAinsAT | r.587_654del | p.Glu196Glyfs*12 | SS | 1 | nd |
| 85 | 42 | m | no | c.649delG | r.(?) | p.Glu217Lysfs*8 | FS | 1 | nd |
| 144 | 38 | f | no | c.652_653delAAinsG | r.(?) | p.Lys218Glyfs*7 | FS | 1 | nd |
| Tsipi et al. 156 [33] | 4 | na | yes | c.653_653insA | r.(?) | p.Lys218Argfs*7 | FS | 1 | nd |
| 215 | 11 | m | no | c.681T>G | r.(?) | p.Tyr227* | NS | 1 | nd |
| 1 | 25 | m | yes | c.801delG | r.(?) | p.Trp267Cysfs*14 | FS | 1 | nd |
| 253 | 59 | f | no | c.910C>T | r.(?) | p.Arg304* | NS | 1 | nd |
| 118 | 30 | f | no | c.910C>T | r.(?) | p.Arg304* | NS | 1 | nd |
| 129 | 38 | m | yes | c.945_946delGCinsAA | r.889_1062del | p.Lys297_Lys354del | SS | 1 | nd |
| 228 | 15 | m | no | c.952_953delGA | r.(?) | p.Glu318fs*11 | FS | 1 | nd |
| 135 | 15 | m | yes | c.952_953delGA | r.(?) | p.Glu318fs*11 | FS | 1 | nd |
| Tsipi et al. 102 [33] | 44 | na | no | c.968C>A | r.(?) | p.Ala323Asp | MS | 1 | nd |
| 224 | 15 | m | no | c.980T>C | r.980u>c | p.Leu327Pro | MS | 1 | nd |
| 120 | 15 | m | yes | c.980T>C | r.980u>c | p.Leu327Pro | MS | 1 | nd |
| 212 | 15 | f | no | c.998_999insA | r.998_999insa | p.Tyr333* | FS | 1 | nd |
| 199 | 4 | f | yes | c.1007G>A | r.(?) | p.Trp336* | NS | 1 | nd |
| 35 | 35 | f | no | c.1019_1020delCT | r.(?) | p.Ser340Cysfs*12 | FS | 1 | nd |
| 106 | 20 | m | no | c.1021_1022delGT | r.(?) | p.Val341Hisfs*11 | FS | 1 | nd |
| Tsipi et al. 78 [33] | 15 | na | no | c.1022_1023insGA | r.(?) | p.Ile342Thrfs*35 | FS | 1 | nd |
| 166 | na | f | no | c.1062G>T | r.889_1062del | p.Lys297_Lys354del | SS | 1 | nd |
| 105 | 48 | f | yes | c.1062+113A>G | r.1062_1063ins113 | p.Asn355Valfs*12 | SS | 1 | nd |
| 170 | 18 | m | no | c.1063-2A>C | r.(?) | p.(?) | SS | 1 | nd |
| 84 | 44 | f | no | c.1122_1125delTCTA | r.1122_1125del | p.Asp374Glufs*2 | FS | 1 | nd |
| 74 | 36 | f | no | c.1140delT | r.(?) | p.Val381Phefs*6 | FS | 1 | nd |
| Bonatti et al. 15 [37] | na | m | yes | c.1144delT | r.(?) | p.Ser382Leufs*5 | FS | 1 | nd |
| Tsipi et al. 126 [33] | 28 | na | no | c.1182_1183insT | r.(?) | p.Lys395* | FS | 1 | nd |
| 59 | 45 | f | no | c.1186-1G>C | r.1186_1200del | p.Ile396_Gln400del | SS | 1 | nd |
| 51 | 9 | m | yes | c.1246C>T | r.1246c>u | p.Arg416* | NS | 1 | nd |
| 208 | 10 | f | no | c.1246C>T | r.1246c>u | p.Arg416* | NS | 1 | nd |
| 238 | 20 | m | no | c.1249delA | r.(?) | p.Ile417Serfs*56 | FS | 1 | nd |
| 39 | 21 | m | yes | c.1259_1260insT | r.(?) | p.Ser421fs*8 | FS | 1 | nd |
| Tsipi et al. 112 [33] | 43 | m | yes | c.1275G>A | r.(?) | p.Trp425* | NS | 1 | nd |
| 81 | 56 | m | no | c.1315C>T | r.(?) | p.Leu439Phe | MS | 1 | nd |
| 240 | 40 | f | yes | c.1318C>T | r.1318c>u | p.Arg440* | NS | 1 | nd |
| 60 | 66 | m | no | c.1318C>T | r.1318c>u | p.Arg440* | NS | 1 | nd |
| 237 | 4 | m | yes | c.1381C>T | r.1381c>u | p.Arg461* | NS | 1 | nd |
| 206 | 4 | m | yes | c.1381C>T | r.1381c>u | p.Arg461* | NS | 1 | nd |
| 233 | 12 | m | no | c.1392+1G>A | r.(?) | p.(?) | SS | 1 | nd |
| 178 | 31 | m | no | c.1392+1G>T | r.(?) | p.Ser421_Pro464del | SS | 1 | nd |
| 58 | 16 | f | no | c.1393-3_1393-2delTA | r.1393_1527del | p.Ser465_Cys509del | SS | 1 | nd |
| 124 | 53 | f | no | c.1393-?_2325+?del | r.(?) | p.Ser465_Glu775del | LD | 1 | CSRD |
| 17 | 40 | f | no | c.1399_1400insA | r.(?) | p.Thr467Asnfs*3 | FS | 1 | nd |
| 200 | 9 | f | yes | c.1453G>T | r.(?) | p.Glu485* | NS | 1 | nd |
| Bonatti et al. 22 [37] | na | m | yes | c.1462delA | r.(?) | p.Ser488Alafs*10 | FS | 1 | nd |
| 91 | 49 | f | no | c.1466A>G | r.1466_1527del | p.Tyr489* | SS | 1 | nd |
| 96 | 13 | f | yes | c.1466A>G | r.1466_1527del | p.Tyr489* | SS | 1 | nd |
| Tsipi et al. 87 [33] | 8 | m | yes | c.1466A>G | r.1466_1527del | p.Tyr489* | SS | 1 | nd |
| 126 | 43 | f | no | c.1466A>G | r.1466_1527del | p.Tyr489* | SS | 1 | nd |
| 172 | 46 | m | no | c.1466A>G | r.1466_1527del | p.Tyr489* | SS | 1 | nd |
| 221 | 14 | f | no | c.1466A>G | r.1466_1527del | p.Tyr489* | SS | 1 | nd |
| Terzi et al. 679 [40] | na | na | yes | c.1525_1526insT | r.(?) | p.Cys509Leufs*2 | FS | 1 | nd |
| 104 | 61 | m | no | c.1527+5G>A | r.1393_1527del | p.Ser465_Cys509del45 | SS | 1 | nd |
| 173 | 19 | f | yes | c.1527+675C>T | r.1527_1528ins116 | p.Asp510Argfs17 | SS | 1 | nd |
| 187 | 39 | f | no | c.1541_1542delAG | r.(?) | p.Gln514fs*21 | FS | 1 | nd |
| 157 | 21 | f | no | c.1542delG | r.(?) | p.Lys514fs*10 | FS | 1 | nd |
| 145 | 5 | m | yes | c.1549G>T | r.1549g>u | p.Glu517* | NS | 1 | nd |
| 163 | 10 | m | yes | c.1603C>T | r.(?) | p.Gln535* | NS | 1 | nd |
| 93 | 19 | m | yes | c.1658A>G | r.1658a>g | p.His553Arg | MS | 1 | CSRD |
| Tsipi et al. 127 [33] | 5 | na | yes | c.1722-3C>A | r.(?) | p.(?) | SS | 1 | CSRD |
| 176 | 18 | f | no | c.1722C>G | r.(?) | p.Ser574Arg | MS | 1 | CSRD |
| Tsipi et al. 98 [33] | 12 | m | yes | c.1724C>A | r.(?) | p.Ser575* | NS | 1 | CSRD |
| Tsipi et al. 44 [33] | 58 | na | yes | c.1755_1758delAACT | r.(?) | p.Thr586Valfs*18 | FS | 1 | CSRD |
| 89 | 3 | m | yes | c.1756_1759delACTA | r.(?) | p.Thr586Valfs*18 | FS | 1 | CSRD |
| 169 | 18 | f | yes | c.1756_1759delACTA | r.(?) | p.Thr586Valfs*18 | FS | 1 | CSRD |
| 226 | 18 | f | no | c.1830_1833delTCTT | r.(?) | p.Leu612Lysfs*18 | FS | 1 | CSRD |
| 98 | 55 | m | no | c.1840_1841insTTTT | r.(?) | p.Asn614llefs*2 | FS | 1 | CSRD |
| 14 | 38 | m | no | c.1885G>A | r.1885_1925del | p.Gln616Glyfs*4 | SS | 1 | CSRD |
| 101 | 4 | m | yes | c.1885G>A | r.1885_1925del | p.Gln616Glyfs*4 | SS | 1 | CSRD |
| 220 | 12 | m | no | c.1885G>A | r.1885_1925del | p.Gln616Glyfs*4 | SS | 1 | CSRD |
| Bonatti et al. 34 [37] | na | m | yes | c.1889T>A | r.(?) | p.Val630Glu | MS | 1 | CSRD |
| 143 | 16 | f | yes | c.1907_1908delCT | r.1907_1908del | p.Ser636* | FS | 1 | CSRD |
| 125 | 36 | f | no | c.2019delC | r.(?) | p.Cys673* | FS | 1 | CSRD |
| Tsipi et al. 50 [33] | 29 | na | no | c.2033dupC | r.2033dupc | p.Ile679Aspfs*21 | FS | 1 | CSRD |
| 181 | 41 | f | no | c.2033dupC | r.2033dupc | p.Ile679Aspfs*21 | FS | 1 | CSRD |
| 94 | 41 | m | no | c.2033dupC | r.2033dupc | p.Ile679Aspfs*21 | FS | 1 | CSRD |
| 97 | 12 | f | yes | c.2041C>T | r.2041c>u | p.Arg681* | NS | 1 | CSRD |
| 254 | 63 | m | no | c.2041C>T | r.2041c>u | p.Arg681* | NS | 1 | CSRD |
| 203 | 8 | f | yes | c.2041C>T | r.2041c>u | p.Arg681* | NS | 1 | CSRD |
| 156 | 72 | m | no | c.2041C>T | r.2041c>u | p.Arg681* | NS | 1 | CSRD |
| 207 | 13 | m | no | c.2041C>T | r.2041c>u | p.Arg681* | NS | 1 | CSRD |
| 102 | 29 | f | yes | c.2084_2085delTG | r.(?) | p.Trp696Glufs*3 | FS | 1 | CSRD |
| 115 | 59 | m | no | c.2106delT | r.(?) | p.Val703Phefs*45 | FS | 1 | CSRD |
| 161 | 13 | f | yes | c.2131delC | r.(?) | p.Arg711Alafs*37 | FS | 1 | CSRD |
| 245 | 55 | f | no | c.2251+1G>A | r.2002_2251del | p.Asp668Glufs*9 | SS | 1 | CSRD |
| 168 | 69 | m | no | c.2297T>G | r.(?) | p.Ile766Ser | MS | 1 | CSRD |
| 26 | 52 | m | no | c.2325G>C | r.2252_2325del | p.Arg752Leufs*17 | SS | 1 | CSRD |
| Tsipi et al. 151 [33] | 9 | m | yes | c.2326-3T>G | r.(?) | p.(?) | SS | 1 | CSRD |
| 22 | 40 | m | no | c.2329T>A | r.(?) | p.Trp777Arg | MS | 1 | CSRD |
| 236 | 12 | m | no | c.2352G>C | r.(?) | p.Trp784Cys | MS | 1 | CSRD |
| 16 | 37 | f | no | c.2356delC | r.(?) | p.Gln786fs*5 | FS | 1 | CSRD |
| 100 | 32 | f | no | c.2409+1insCCC | r.2326_2409del | p.Ala776_Gln803del | SS | 1 | CSRD |
| 128 | 59 | m | no | c.2409+1G>T | r.2326_2409del | p.Ala776_Gln803del | SS | 1 | CSRD |
| 235 | 12 | f | no | c.2409+1G>T | r.2326_2409del | p.Ala776_Gln803del | SS | 1 | CSRD |
| 154 | 29 | f | yes | c.2410-18C>G | r.2409_2410ins2410-17_2410-1 | p.Gln803fs*23 | SS | 1 | CSRD |
| Calì et al. 25 [38] | 7 | m | yes | c.2446C>T | r.(?) | p.Arg816* | NS | 1 | CSRD |
| 55 | 50 | f | no | c.2492_2493dupCA | r.2492_2493dupca | p.Asp832Glnfs*10 | FS | 1 | CSRD |
| 227 | 13 | f | no | c.2537_2538ins TCAACATGACTGGCTTCCTTTGTGC | r.2537_2538ins25 | p.Leu847Glnfs*26 | FS | 1 | CSRD |
| 182 | 44 | f | no | c.2540T>C | r.2540u>c | p.Leu847Pro | MS | 1 | CSRD |
| 73 | 21 | f | yes | c.2540T>C | r.2540u>c | p.Leu847Pro | MS | 1 | CSRD |
| 90 | 18 | m | no | c.2571delTinsAG | r.(?) | p.Ser858Leufs*7 | FS | 1 | CSRD |
| 231 | 18 | m | no | c.2669delC | r.2669del | p.Pro890Leufs*12 | FS | 1 | CSRD |
| 5 | 21 | m | yes | c.2674_2674delA | r.2674_2674del | p.Ser892Alafs*10 | FS | 1 | CSRD |
| 149 | 18 | m | no | c.2693T>C | r.(?) | p.Leu898Pro | MS | 1 | CSRD |
| 67 | 51 | f | no | c.2730_2731insAAGTGGGA | r.(?) | p.Leu911Lysfs*16 | FS | 1 | nd |
| 122 | 45 | f | no | c.2850+1G>T | r.2618_2850del | p.Lys874Phefs*4 | SS | 1 | CSRD |
| 15 | 7 | m | yes | c.2850G>A | r.(?) | p.Lys874Phefs*4 | SS | 1 | CSRD |
| Tsipi et al. 124 [33] | 11 | na | yes | c.2858T>A | r.(?) | p.Leu953* | NS | 2 | nd |
| 246 | 45 | f | no | c.2915T>C | r.2915u>c | p.Leu972Pro | MS | 2 | nd |
| 158 | 12 | m | yes | c.2990+1G>T | r.(?) | p.(?) | SS | 2 | nd |
| 150 | 38 | m | yes | c.2990+5G>C | r.2851_2990del | p.Leu952Cysfs*22 | SS | 2 | nd |
| 142 | 35 | f | no | c.2991-2A>G | r.(?) | p.Tyr998_Arg1038del | SS | 2 | nd |
| 190 | 42 | f | no | c.3047_3048delGT | r.(?) | p.Cys1016Serfs*4 | FS | 2 | nd |
| 251 | 25 | m | no | c.3062_3063insGT | r.(?) | p.Met1022* | FS | 2 | nd |
| Tsipi et al. 170 [33] | 11 | na | no | c.3076A>T | r.(?) | p.Arg1026* | NS | 2 | nd |
| 223 | 14 | f | no | c.3104T>G | r.3104u>g | p.Met1035Arg | MS | 2 | nd |
| Trevisson et al. I [35] | 41 | f | no | c.3112A>G | r.(?) | p.Arg1038Gly | MS | 2 | nd |
| Trevisson et al. II [35] | 30 | f | no | c.3112A>G | r.(?) | p.Arg1038Gly | MS | 2 | nd |
| 10 | 14 | m | yes | c.3168_3169insTA | r.(?) | p.Ala1057* | FS | 2 | nd |
| 29 | 8 | f | yes | c.3198-2A>G | r.3198_3199del | p.Asp1067fs*20 | SS | 2 | nd |
| Lin et al. 1 [41] | 53 | f | no | c.3236_3240dupTTCTA | r.(?) | p.Ala1081Phefs*2 | FS | 2 | nd |
| 134 | 17 | f | no | c.3311T>G | r.3311_3314del | p.Leu1104Hisfs*7 | SS | 2 | TBD |
| 164 | 28 | f | no | c.3456_3459delACTC | r.3456_3459del | p.Leu1153Metfs*4 | FS | 2 | TBD |
| 99 | 22 | f | yes | c.3496+1G>A | r.(?) | p.Tyr1106Leufs*28 | SS | 2 | TBD |
| 217 | 12 | f | no | c.3520C>T | r.(?) | p.Gln1174* | NS | 2 | TBD |
| 38 | 49 | m | no | c.3574G>T | r.(?) | p.Glu1192* | NS | 2 | TBD |
| 138 | 33 | f | no | c.3610C>G | r.(?) | p.Arg1204Gly | MS | 2 | GRD |
| 18 | 46 | f | no | c.3708+1G>C | r.3497_3708del | p.Leu1167* | SS | 2 | TBD |
| Ulusal et al. 7 [34] | 57 | f | yes | c.3709-2A>G | r.3709_3718del | p.Asp1237Leufs*26 | SS | 2 | GRD |
| 13 | 31 | f | yes | c.3721C>T | r.(?) | p.Arg1241* | NS | 2 | GRD |
| 241 | 42 | f | yes | c.3721C>T | r.(?) | p.Arg1241* | NS | 2 | GRD |
| 110 | 55 | m | no | c.3739_3742delTGTT | r.(?) | p.Phe1247Ilefs*18 | FS | 2 | GRD |
| 42 | 16 | m | yes | c.3826C>T | r.3826c>u | p.Arg1276* | NS | 2 | GRD |
| 165 | 35 | m | no | c.3826C>T | r.3826c>u | p.Arg1276* | NS | 2 | GRD |
| 232 | 19 | f | no | c.3826C>T | r.3826c>u | p.Arg1276* | NS | 2 | GRD |
| 243 | 50 | m | yes | c.3826C>T | r.3826c>u | p.Arg1276* | NS | 2 | GRD |
| 191 | 43 | f | yes | c.3826_3828delCGAinsTACT | r.3826_3828delcgainsuacu | p.Arg1276Tyrfs*8 | FS | 2 | GRD |
| 209 | 11 | m | no | c.3827G>A | r.3827g>a | p.Arg1276Gln | MS | 2 | GRD |
| 54 | 61 | m | yes | c.3827G>C | r.(?) | p.Arg1276Pro | MS | 2 | GRD |
| 49 | 22 | m | yes | c.3844delA | r.(?) | p.Ser1282Valfs*3 | FS | 2 | GRD |
| 155 | 25 | m | yes | c.3847delA | r.(?) | p.Ile1284* | FS | 2 | GRD |
| 88 | 45 | f | no | c.3859delT | r.(?) | p.Phe1287Serfs*22 | FS | 2 | GRD |
| Tsipi et al. 115 [33] | 6 | na | yes | c.3870_3871insTAG | r.(?) | p.Val1291* | NS | 2 | GRD |
| 50 | 46 | m | no | c.3888T>G | r.(?) | p.Tyr1296* | NS | 2 | GRD |
| 70 | 6 | f | yes | c.3916C>T | r.3916c>u | p.Arg1306* | NS | 2 | GRD |
| 36 | 59 | m | no | c.3916C>T | r.3916c>u | p.Arg1306* | NS | 2 | GRD |
| 167 | 64 | f | no | c.3941G>A | r.(?) | p.Trp1314* | NS | 2 | GRD |
| 192 | 26 | m | no | c.3974+1G>A | r.(?) | p.(?) | SS | 2 | GRD |
| 83 | 40 | f | no | c.3974+1G>T | r.3871_3974del | p.Tyr1292Argfs*8 | SS | 2 | GRD |
| 151 | 40 | m | no | c.3974+2T>G | r.(?) | p.(?) | SS | 2 | GRD |
| 255 | 44 | f | no | c.3975-2A>G | r.3975_3979delguuag | p.Leu1326Thrfs*6 | SS | 2 | GRD |
| 117 | 16 | m | yes | c.3975-?_4110+? | r.(?) | p.Leu1326Trpfs*14 | LD | 2 | GRD |
| 219 | 11 | m | no | c.3983_3986delCATC | r.3983_3986del | p.Pro1328Glnfs*14 | FS | 2 | GRD |
| 77 | 67 | f | yes | c.3989_3992delAGAG | r.(?) | p.Glu1330Alafs*12 | FS | 2 | GRD |
| 132 | 46 | f | no | c.4054delA | r.(?) | p.Ser1352Valfs*3 | FS | 2 | GRD |
| 9 | 38 | m | yes | c.4084C>T | r.(?) | p.Arg1362* | NS | 2 | GRD |
| 21 | 10 | f | yes | c.4084C>T | r.(?) | p.Arg1362* | NS | 2 | GRD |
| 116 | 10 | f | yes | c.4084C>T | r.(?) | p.Arg1362* | NS | 2 | GRD |
| Tsipi et al. 106 [33] | 6 | f | yes | c.4084C>T | r.(?) | p.Arg1362* | NS | 2 | GRD |
| 113 | 45 | m | no | c.4084C>T | r.(?) | p.Arg1362* | NS | 2 | GRD |
| 140 | 30 | f | no | c.4084C>T | r.(?) | p.Arg1362* | NS | 2 | GRD |
| 179 | 5 | m | yes | c.4110+1G>C | r.(?) | p.(?) | SS | 2 | GRD |
| Tsipi et al. 96 [33] | 54 | na | no | c.4134C>T | r.(?) | p.Gln1378* | NS | 2 | GRD |
| 189 | 31 | f | no | c.4154delG | r.4154del | p.Gly1385Glufs*22 | FS | 2 | GRD |
| Tsipi et al. 161 [33] | 11 | na | yes | c.4174G>C | r.(?) | p.Arg1391Thr | MS | 2 | GRD |
| 75 | 25 | f | yes | c.4267A>G | r.4267a>g | p.Lys1423Glu | MS | 2 | GRD |
| Tsipi et al. 177 [33] | 6 | m | yes | c.4269+1delG | r.(?) | p.(?) | SS | 2 | GRD |
| Bonatti et al. 62 [37] | na | m | yes | c.4269+1G>C | r.4111_4269del | p.Val1371_Lys1423del | SS | 2 | GRD |
| 137 | 47 | m | no | c.4353delT | r.(?) | p.Phe1451Leufs*11 | FS | 2 | GRD |
| 92 | 40 | f | no | c.4402_4406delAGTGA | r.4402_4406del | p.Ser1468Cysfs*5 | FS | 2 | GRD |
| 72 | 5 | m | yes | c.4435A>G | r.4368_4435del | p.Phe1457* | SS | 2 | GRD |
| Tsipi et al. 95 [33] | 6 | na | yes | c.4474G>A | r.(?) | p.Trp1491* | NS | 2 | GRD |
| 147 | 46 | m | no | c.4515-1G>A | r.(?) | p.(?) | SS | 2 | GRD |
| 196 | 56 | m | yes | c.4537C>T | r.4537c>u | p.Arg1513* | NS | 2 | GRD |
| 211 | 10 | m | no | c.4537C>T | r.4537c>u | p.Arg1513* | NS | 2 | GRD |
| 27 | 49 | f | no | c.4537C>T | r.4537c>u | p.Arg1513* | NS | 2 | GRD |
| 47 | 17 | m | no | c.4577delG | r.(?) | p.Gly1526Valfs*27 | FS | 2 | GRD |
| 123 | 34 | m | no | c.4606dupA | r.(?) | p.Thr1536Asnfs*7 | FS | 2 | nd |
| 34 | 48 | f | no | c.4630delA | r.(?) | p.Thr1544Profs*9 | FS | 2 | nd |
| 37 | 14 | f | yes | c.4684G>T | r.4684g>u | p.Glu1562* | NS | 2 | Sec14 |
| 146 | 19 | m | yes | c.4817T>A | r.(?) | p.Val1606Asp | MS | 2 | Sec14 |
| 213 | 14 | m | no | c.4867G>C | r.(?) | p.Asp1623His | MS | 2 | Sec14 |
| Tsipi et al. 68 [33] | 11 | na | no | c.4959G>A | r.(?) | p.Val1653Ile | MS | 2 | Sec14 |
| 64 | 18 | m | yes | c.4983_4984dupT | r.(?) | p.Asn1662* | FS | 2 | Sec14 |
| 121 | 23 | f | yes | c.5028delG | r.(?) | p.Thr1677Leufs*12 | FS | 2 | Sec14 |
| 202 | 7 | f | yes | c.5047A>T | r.(?) | p.Lys1683* | NS | 2 | Sec14 |
| 32 | 50 | f | no | c.5154_5157dupATTC | r.(?) | p.His1720Ilefs*17 | FS | 2 | PH |
| 43 | 17 | f | no | c.5170A>T | r.(?) | p.Lys1724* | NS | 2 | PH |
| Tsipi et al. 39 [33] | 35 | na | no | c.5209T>G | r.(?) | p.Val1736Gly | MS | 2 | PH |
| Terzi et al. 320 [40] | na | na | yes | c.5224C>T | r.(?) | p.Gln1742* | NS | 2 | PH |
| Terzi et al. 325 [40] | na | na | yes | c.5224C>T | r.(?) | p.Gln1742* | NS | 2 | PH |
| 25 | 20 | m | no | c.5242C>T | r.(?) | p.Arg1748* | NS | 2 | PH |
| 152 | 5 | m | yes | c.5276delA | r.5276del | p.Asn1759Metfs*14 | FS | 2 | PH |
| 130 | 44 | f | no | c.5353C>T | r.(?) | p.Gln1785* | NS | 2 | PH |
| Tsipi et al. 129 [33] | 3 | m | yes | c.5382C>T | r.(?) | p.Gln1794* | NS | 2 | PH |
| 234 | 13 | m | no | c.5425C>T | r.(?) | p.Arg1809Cys | MS | 2 | PH |
| 214 | 10 | f | no | c.5426G>C | r.(?) | p.Arg1809Pro | MS | 2 | PH |
| Tsipi et al.89 [33] | 30 | m | yes | c.5429G>A | r.(?) | p.Trp1810* | NS | 2 | PH |
| 41 | 30 | f | yes | c.5471insT | r.(?) | p.Lys1823Asnfs*18 | FS | 2 | nd |
| 111 | 19 | f | no | c.5483A>T | r.(?) | p.Asp1828Val | MS | 2 | HLR |
| 230 | 10 | m | no | c.5520T>G | r.5520u>g | p.Asn1840Lys | MS | 2 | HLR |
| 133 | 10 | m | yes | c.5543T>A | r.(?) | p.Leu1848* | NS | 2 | HLR |
| Tsipi et al. 46 [33] | 28 | m | yes | c.5546G>A | r.5206_5546del | p.Gly1737fs*4 | SS | 2 | PH |
| 107 | 40 | f | no | c.5546G>A | r.5206_5546del | p.Gly1737fs*4 | SS | 2 | PH |
| Tsipi et al. 125 [33] | 9 | f | yes | c.5546+1G>A | r.5206_5546del | p.Gly1737fs*4 | SS | 2 | PH |
| 62 | 39 | f | no | c.5546+5G>C | r.(?) | p.(?) | SS | 2 | PH |
| 45 | 19 | f | yes | c.5594T>G | r.5594u>g | p.Leu1865* | NS | 2 | HLR |
| 48 | 33 | m | no | c.5624C>G | r.(?) | p.Ser1875* | NS | 2 | HLR |
| 242 | 24 | m | yes | c.5630delT | r.(?) | p.Leu1877Tyrfs*27 | FS | 2 | HLR |
| 222 | 16 | f | no | c.5681T>C | r.5681u>c | p.Leu1894Pro | MS | 2 | HLR |
| 247 | 52 | f | no | c.5750-177A>C | r.5749_5750ins5750-174_5750-108 | p.Ser1917Argfs*25 | SS | 2 | HLR |
| 28 | 14 | f | yes | c.5815delT | r.(?) | p.Cys1939Aspfs*19 | FS | 3 | HLR |
| 205 | 14 | f | yes | c.5839C>T | r.5839c>u | p.Arg1947* | NS | 3 | HLR |
| 3 | 42 | m | no | c.5839C>T | r.5839c>u | p.Arg1947* | NS | 3 | HLR |
| 23 | 12 | m | yes | c.5839C>T | r.5839c>u | p.Arg1947* | NS | 3 | HLR |
| Tsipi et al. 144 [33] | 12 | f | yes | c.5839C>T | r.5839c>u | p.Arg1947* | NS | 3 | HLR |
| Ulusal et al. 10 [34] | 7 | m | yes | c.5839C>T | r.5839c>u | p.Arg1947* | NS | 3 | HLR |
| 248 | 35 | m | no | c.5839C>T | r.5839c>u | p.Arg1947* | NS | 3 | HLR |
| 159 | 17 | m | yes | c.5851_5852insA | r.(?) | p.Thr1951Asnfs*5 | FS | 3 | HLR |
| 174 | 49 | f | no | c.5890G>T | r.(?) | p.Glu1964* | NS | 3 | HLR |
| 114 | 23 | m | no | c.5943G>T | r.(?) | p.Gln1891His | MS | 3 | HLR |
| 33 | 22 | f | no | c.5944-1G>T | r.5944_5950delauuacag | p.Thr1983Lysfs*6 | SS | 3 | HLR |
| Tsipi et al. 79 [33] | 37 | na | no | c.6110_6110delT | r.(?) | p.Ile2037Metfs*12 | FS | 3 | HLR |
| Bonatti et al. 85 [37] | na | f | yes | c.6134delC | r.(?) | p.Thr2045Ilefs*4 | FS | 3 | HLR |
| 78 | 41 | f | no | c.6278delG | r.6278del | p.Gly2093Valfs*36 | FS | 3 | HLR |
| 119 | 29 | m | no | c.6346_6347insA | r.(?) | p.Ser2116Tyrfs*6 | FS | 3 | HLR |
| 4 | 42 | m | no | c.6364+2T>A | r.(?) | p.(?) | SS | 3 | HLR |
| 201 | 12 | f | yes | c.6365-2A>G | r.6365_6579del | p.Glu2122Glyfs*27 | SS | 3 | HLR |
| Bonatti et al. 90 [37] | na | f | yes | c.6389_6393delTCAGTinsA | r.(?) | p.Leu2130Hisfs*2 | FS | 3 | HLR |
| 186 | 47 | f | no | c.6477delC | r.6477del | p.Ser2160Valfs*19 | FS | 3 | HLR |
| 11 | 60 | f | no | c.6641+1G>A | r.6580_6641del | p.Ala2194Ilefs*6 | SS | 3 | HLR |
| 239 | 24 | f | yes | c.6641+1G>T | r.6580_6641del | p.Ala2194Ilefs*6 | SS | 3 | HLR |
| Stella et al.1 [39] | 2 | f | yes | c.6687_6689delTGT | r.(?) | p.Val2230del | ID | 3 | HLR |
| 148 | 55 | f | no | c.6688delG | r.(?) | p.Val2230Serfs*14 | FS | 3 | HLR |
| 80 | 8 | f | yes | c.6709C>T | r.6709c>u | p.Arg2237* | NS | 3 | HLR |
| 86 | 43 | m | no | c.6709C>T | r.6709c>u | p.Arg2237* | NS | 3 | HLR |
| 108 | 59 | f | no | c.6709C>T | r.6709c>u | p.Arg2237* | NS | 3 | HLR |
| 249 | 71 | m | no | c.6709C>T | r.6709c>u | p.Arg2237* | NS | 3 | HLR |
| 204 | 3 | m | yes | c.6709C>T | r.6709c>u | p.Arg2237* | NS | 3 | HLR |
| 197 | 5 | f | yes | c.6755A>G | r.6642_6756del | p.Phe2215Hisfs*6 | SS | 3 | HLR |
| 216 | 10 | f | no | c.6756+11C>T | r.6642_6756del | p.Phe2215Hisfs*6 | SS | 3 | HLR |
| 210 | 12 | f | no | c.6756+1G>T | r.(?) | p.(?) | SS | 3 | HLR |
| 198 | 3 | m | yes | c.6770_6771insG | r.6770_6771insg | p.Cys2257Trpfs*6 | FS | 3 | HLR |
| 63 | 55 | f | yes | c.6789_6792delTTAC | r.(?) | p.Tyr2264Glnfs*4 | FS | 3 | HLR-CTD |
| 194 | 28 | m | no | c.6789_6792delTTAC | r.(?) | p.Tyr2264Glnfs*4 | FS | 3 | HLR-CTD |
| Tsipi et al. 135 [33] | 17 | f | yes | c.6791_6792insA | r.(?) | p.Tyr2264* | FS | 3 | HLR-CTD |
| 20 | 45 | f | no | c.6791_6792insA | r.(?) | p.Tyr2264* | FS | 3 | HLR-CTD |
| 53 | 29 | m | no | c.6792C>A | r.6757_6858del | p.Ala2253_Lys 2286del | SS | 3 | HLR-CTD |
| 87 | 54 | m | no | c.6792C>A | r.6757_6858del | p.Ala2253_Lys 2286del | SS | 3 | HLR-CTD |
| 184 | 9 | f | yes | c.6792C>A | r.6757_6858del | p.Ala2253_Lys 2286del | SS | 3 | HLR-CTD |
| 12 | 42 | m | yes | c.6834delC | r.(?) | p.Thr2279Asnfs*20 | FS | 3 | HLR-CTD |
| 185 | 4 | f | yes | c.6858+3A>T | r.6757_6858del | p.Ala2253_Lys2286del | SS | 3 | HLR-CTD |
| 66 | 46 | f | no | c.6999+1G>C | r.(?) | p.(?) | SS | 3 | HLR-CTD |
| 2 | 25 | f | no | c.7096_7101delAACTTT | r.7096_7101del | p.Asn2366_Phe2367del | ID | 3 | HLR-CTD |
| 82 | 24 | m | yes | c.7096_7101delAACTTT | r.7096_7101del | p.Asn2366_Phe2367del | ID | 3 | HLR-CTD |
| 69 | 22 | m | no | c.7186_7188delCTA | r.(?) | p.Leu2396del | ID | 3 | HLR-CTD |
| 52 | 32 | f | yes | c.7192_7193delCT | r.(?) | p.Leu2398Glyfs*2 | FS | 3 | HLR-CTD |
| Tsipi et al. 128 [33] | 5 | m | yes | c.7285C>T | r.(?) | p.Arg2429* | NS | 3 | CTD |
| 252 | 54 | m | no | c.7337C>A | r.(?) | p.Ser2446* | NS | 3 | CTD |
| 195 | 3 | f | yes | c.7345_7346delAA | r.7345_7346del | p.Asn2449Cysfs*12 | FS | 3 | CTD |
| 225 | 12 | m | no | c.7486C>T | r.7486c>u | p.Arg2496* | NS | 3 | CTD |
| Calì et al. 76 [38] | 12 | f | yes | c.7486C>T | r.7486c>u | p.Arg2496* | NS | 3 | CTD |
| 218 | 12 | f | no | c.7580_7581dupA | r.(?) | p.Ser2528Ilefs*7 | FS | 3 | CTD |
| 95 | 26 | m | no | c.7619C>G | r.(?) | p.Ser2540* | NS | 3 | CTD-NLS |
| Micaglio et al. [36] | 23 | m | no | c.7686delG | r.(?) | p.Ile2563fs*40 | FS | 3 | CTD |
| 229 | 11 | m | no | c.7703delA | r.(?) | p.Gln2568Argfs*35 | FS | 3 | CTD |
| 19 | 10 | m | yes | c.7720delA | r.(?) | p.Val2575Phefs*28 | FS | 3 | CTD |
| Tsipi et al. 162 [33] | 7 | na | yes | c.7725_7726insG | r.(?) | p.Ser2576Valfs*4 | FS | 3 | CTD |
| 40 | 20 | f | no | c.7806+1G>A | r.(?) | p.(?) | SS | 3 | CTD |
| 56 | 27 | f | no | c.7993C>T | r.7993c>u | p.Gln2665* | NS | 3 | CTD-SBR |
| 141 | 20 | m | no | c.8111delC | r.(?) | p.Pro2704Glnfs*14 | FS | 3 | CTD-SBR |
| 71 | 16 | m | yes | c.8332G>A | r.8332g>a | p.Val2778Ile | MS | 3 | CTD |
ID code: simple numbers refer to the patients in our cohort; the patients retrieved from the literature are shown using the name of the first author and the code assigned in the original article; na = not available; nd = no domain; f = female; m = male. OPG, optic pathway glioma; CSRD, cysteine/serine-rich domain; TBD, tubulin-binding domain; GRD, GTPase activating protein-related domain; PH, pleckstrin homology-like domain; HLR, HEAT-like repeat regions; Sec-14, Sec14-like domain; CTD, C-terminal domain; NLS, nuclear localisation signal region; SBR, syndecan-binding region; NS, nonsense mutation; FS, frameshift mutation; MS, missense mutation; ID, inframe mutation; SS, splicing mutation; LD, large deletion.