| 1 | c.1080_1143delinsGGAAGAAGACAA | p.Q361Efs*52 | Type 1-like | Class A | Deletion+Insertion | COSV57132277 |
| 2 | c.1080_1144delinsGGAAGAAGACAAG | p.Q361Efs*51 | Type 1-like | Class A | Deletion+Insertion | #NA |
| 3 | c.1088delinsTTTGTC | p.E363Vfs*69 | Type 1-like | Class A | Deletion+Insertion | COSV57117973 |
| 4 | c.1088_1089insTTGTC | p.E363Dfs*69 | Type 1-like | Class A | Insertion | COSV105150398 |
| 5 | c.1089_1141del | p.E364Gfs*7 | Type 1-like | Class D | Deletion | COSV57134419 |
| 6 | c.1090_1123del | p.E364Nfs*55 | Type 1-like | Class A | Deletion | COSV57122875 |
| 7 | c.1090_1141del | p.E364Rfs*49 | Type 1-like | Class A | Deletion | COSV57136943 |
| 8 | c.1091_1124del | p.E364Dfs*54 | Type 1-like | Class A | Deletion | #NA |
| 9 | c.1091_1142del | p.E364Gfs*49 | Type 1-like | Class A | Deletion | COSV57116652 |
| 10 | c.1092_1125del | p.E364Dfs*55 | Type 1-like | Class A | Deletion | COSV57122102 |
| 11 | c.1092_1140delinsCCA | p.E364Dfs*51 | Type 1-like | Class A | Deletion+Insertion | COSV57136650 |
| 12 | c.1093C>G | p.Q365E | Type 2-like | Class E | Substitution | #NA |
| 13 | c.1093_1138del | p.Q365Rfs*50 | Type 1-like | Class A | Deletion | COSV57119566 |
| 14 | c.1094A>T | p.Q365L | Type 2-like | Class E | Substitution | COSV57130951 |
| 15 | c.1094_1139del | p.Q365Rfs*50 | Type 1-like | Class A | Deletion | COSV57120295 |
| 16 | c.1095_1140del | p.L367Qfs*47 | Type 1-like | Class A | Deletion | #NA |
| 17 | c.1097_1130del | p.R366Kfs*53 | Type 1-like | Class A | Deletion | COSV57137912 |
| 18 | c.1098_1131del | p.L367Rfs*52 | Type 1-like | Class A | Deletion | #NA |
| 19 | c.1099C>A | p.L367I | Type 2-like | Class E | Substitution | COSV57129834 |
| 20 | c.1099_1135del | p.L367Rfs*51 | Type 1-like | Class A | Deletion | #NA |
| 21 | c.1099_1141del | p.L367Rfs*49 | Type 1-like | Class A | Deletion | COSV57129066 |
| 22 | c.1099_1150del | p.L367Tfs*46 | Type 1-like | Class A | Deletion | COSV57116546 |
| 23 | c.1099_1153del | p.L367Rfs*45 | Type 1-like | Class A | Deletion | COSV57137372 |
| 24 | c.1099_1156del | p.L367Rfs*44 | Type 1-like | Class A | Deletion | COSV57119762 |
| 25 | c.1100_1133del | p.L367Rfs*52 | Type 1-like | Class A | Deletion | COSV57118837 |
| 26 | c.1100_1134delinsA | p.L367Qfs*52 | Type 1-like | Class A | Deletion+Insertion | COSV57123953 |
| 27 | c.1100_1136delinsGGAGGT | p.L367Rfs*53 | Type 1-like | Class A | Deletion+Insertion | COSV57116831 |
| 28 | c.1100_1145del | p.L367Qfs*48 | Type 1-like | Class A | Deletion | COSV57117063 |
| 29 | c.1100_1152del | p.L367Qfs*4 | Type 1-like | Class D | Deletion | COSV105150521 |
| 30 | c.1101_1134del | p.K368Rfs*51 | Type 1-like | Class A | Deletion | COSV57129614 |
| 31 | c.1101_1146del | p.K368Rfs*47 | Type 1-like | Class A | Deletion | COSV57117941 |
| 32 | c.1101_1152del | p.K368Rfs*45 | Type 1-like | Class A | Deletion | COSV57132717 |
| 33 | c.1101_1161del | p.K368Mfs*42 | Type 1-like | Class A | Deletion | COSV57117418 |
| 34 | c.1102_1135del | p.K368Rfs*51 | Type 1-like | Class A | Deletion | #NA |
| 35 | c.1102_1137delinsCA | p.K368Qfs*51 | Type 1-like | Class A | Deletion+Insertion | COSV57120754 |
| 36 | c.1102_1153del | p.K368Rfs*45 | Type 1-like | Class A | Deletion | #NA |
| 37 | c.1103A>G | p.K368R | Type 2-like | Class E | Substitution | COSV57117513 |
| 38 | c.1103A>T | p.K368M | Type 2-like | Class E | Substitution | COSV57131441 |
| 39 | c.1103_1136del | p.K368Rfs*51 | Type 1-like | Class A | Deletion | COSV57117058 |
| 40 | c.1103_1139del | p.K368Rfs*50 | Type 1-like | Class A | Deletion | COSV57123028 |
| 41 | c.1103_1148del | p.K368Rfs*47 | Type 1-like | Class A | Deletion | COSV57116851 |
| 42 | c.1103_1154del | p.K368Rfs*45 | Type 1-like | Class A | Deletion | COSV57116700 |
| 43 | c.1104_1137del | p.E369Rfs*50 | Type 1-like | Class A | Deletion | #NA |
| 44 | c.1104_1155del | p.E369Rfs*44 | Type 1-like | Class A | Deletion | #NA |
| 45 | c.1105_1138del | p.E369Rfs*50 | Type 1-like | Class A | Deletion | COSV57119429 |
| 46 | c.1105_1147delinsAGGAGGCAA | p.E369Rfs*50 | Type 1-like | Class A | Deletion+Insertion | COSV57132154 |
| 47 | c.1105_1156del | p.E369Rfs*44 | Type 1-like | Class A | Deletion | COSV57128698 |
| 48 | c.1108G>T | p.E370* | Type 1-like | Class D | Substitution | COSV57133091 |
| 49 | c.1108_1138del | p.E370Rfs*50 | Type 1-like | Class A | Deletion | COSV57119099 |
| 50 | c.1108_1141del | p.E370Rfs*49 | Type 1-like | Class A | Deletion | COSV57121929 |
| 51 | c.1108_1177del | p.E370Rfs*37 | Type 1-like | Class A | Deletion | COSV57120526 |
| 52 | c.1109_1145del | p.E371Rfs*46 | Type other | Class C (C1) | Deletion | #NA |
| 53 | c.1109_1160del | p.E370Vfs*43 | Type 1-like | Class A | Deletion | COSV57121786 |
| 54 | c.1110_1140del | p.E371Rfs*49 | Type other | Class C (C1) | Deletion | #NA |
| 55 | c.1111_1141del | p.E371Rfs*49 | Type other | Class C (C1) | Deletion | COSV57117580 |
| 56 | c.1111_1142delinsT | p.E371Wfs*49 | Type other | Class C (C1) | Deletion+Insertion | COSV57137496 |
| 57 | c.1111_1147del | p.E371Rfs*47 | Type other | Class C (C1) | Deletion | COSV57122804 |
| 58 | c.1111_1150del | p.E371Tfs*46 | Type other | Class C (C1) | Deletion | COSV100330633 |
| 59 | c.1112A>G | p.E371G | Type 2-like | Class E | Substitution | COSV57137630 |
| 60 | c.1112_1142del | p.E371Gfs*49 | Type other | Class C (C1) | Deletion | #NA |
| 61 | c.1113A>C | p.E371D | Type 2-like | Class E | Substitution | COSV57118921 |
| 62 | c.1113A>G | p.E371= | Type 2-like | Class E | Substitution | COSV57129847 |
| 63 | c.1113_1160del | p.E371_E386del | Type other | Class E | Deletion | COSV57135105 |
| 64 | c.1114G>T | p.E372* | Type other | Class D | Substitution | COSV57128971 |
| 65 | c.1114_1144del | p.E372Qfs*48 | Type other | Class C (C1) | Deletion | COSV57118722 |
| 66 | c.1115_1139del | p.E372Gfs*50 | Type other | Class C (C1) | Deletion | #NA |
| 67 | c.1116A>G | p.E372= | Type 2-like | Class E | Substitution | COSV57133226 |
| 68 | c.1116_1146del | p.D373Rfs*47 | Type other | Class C (C1) | Deletion | COSV57122884 |
| 69 | c.1117_1126del | p.D373Afs*54 | Type other | Class C (C1) | Deletion | #NA |
| 70 | c.1118_1136del | p.D373Gfs*51 | Type other | Class C (C1) | Deletion | COSV57118907 |
| 71 | c.1118_1145delinsCGTTTA | p.D373Afs*50 | Type other | Class C (C1) | Deletion+Insertion | COSV57128200 |
| 72 | c.1120_1123del | p.K374Nfs*54 | Type other | Class C (C1) | Deletion | #NA |
| 73 | c.1120_1125delinsTCTTGTCT | p.K374Sfs*57 | Type other | Class C (C1) | Deletion+Insertion | COSV57139708 |
| 74 | c.1120_1126delinsTTCTTGTCTTCTTGTCTT | p.K374Ffs*60 | Type other | Class C (C1) | Deletion+Insertion | COSV57116884 |
| 75 | c.1120_1131delinsTGCGT | p.K374Cfs*54 | Type other | Class C (C1) | Deletion+Insertion | COSV57138137 |
| 76 | c.1120_1138del | p.K374Rfs*50 | Type other | Class C (C1) | Deletion | #NA |
| 77 | c.1120_1140delinsTCTTGTCT | p.K374Sfs*52 | Type other | Class C (C1) | Deletion+Insertion | COSV57137158 |
| 78 | c.1121_1139del | p.K374Rfs*50 | Type other | Class C (C1) | Deletion | COSV57139502 |
| 79 | c.1121_1142del | p.K374Rfs*49 | Type other | Class C (C1) | Deletion | COSV100330565 |
| 80 | c.1121_1148del | p.K374Rfs*47 | Type other | Class C (C1) | Deletion | COSV57130174 |
| 81 | c.1122del | p.K375Nfs*55 | Type other | Class C (C1) | Deletion | COSV57127165 |
| 82 | c.1122_1123delinsTTGT | p.K374Nfs*57 | Type other | Class C (C1) | Deletion+Insertion | COSV57120413 |
| 83 | c.1122_1125del | p.K374Nfs*55 | Type other | Class C (C1) | Deletion | COSV57118112 |
| 84 | c.1122_1134del | p.K375Rfs*50 | Type other | Class C (C1) | Deletion | #NA |
| 85 | c.1122_1141delinsA | p.K375Rfs*49 | Type other | Class C (C1) | Deletion+Insertion | COSV57125610 |
| 86 | c.1123_1125delinsTGTTT | p.K375Cfs*56 | Type other | Class C (C1) | Deletion+Insertion | COSV57138397 |
| 87 | c.1123_1125delinsTTTTGTTT | p.K375Ffs*57 | Type other | Class C (C1) | Deletion+Insertion | COSV57119133 |
| 88 | c.1124A>G | p.K375R | Type 2-like | Class E | Substitution | COSV57133233 |
| 89 | c.1124_1133del | p.K375Rfs*52 | Type other | Class C (C1) | Deletion | COSV57129887 |
| 90 | c.1124_1136del | p.K375Rfs*51 | Type other | Class C (C1) | Deletion | COSV57121801 |
| 91 | c.1124_1142del | p.K375Rfs*49 | Type other | Class C (C1) | Deletion | COSV57118929 |
| 92 | c.1125_1126insTTCTTAGTGCT | p.R376Ffs*58 | Type other | Class C (C1) | Insertion | COSV57130587 |
| 93 | c.1125_1146del | p.K377Tfs*46 | Type other | Class C (C1) | Deletion | COSV57121734 |
| 94 | c.1126_1131delinsTGCGT | p.R376Cfs*54 | Type other | Class C (C1) | Deletion+Insertion | COSV57135897 |
| 95 | c.1126_1148del | p.R376Gfs*5 | Type other | Class D | Deletion | COSV57137857 |
| 96 | c.1127_1132delinsTTTGC | p.R376Lfs*54 | Type other | Class C (C1) | Deletion+Insertion | COSV57116946 |
| 97 | c.1127_1145del | p.R376Qfs*48 | Type other | Class C (C1) | Deletion | COSV57118606 |
| 98 | c.1128_1154delinsGTGTC | p.K375Cfs*46 | Type other | Class C (C2) | Deletion+Insertion | #NA |
| 99 | c.1129_1135AAAGAGG>CTTTGCTTA | p.K377Lfs*54 | Type other | Class C (C1) | Substitution | #NA |
| 100 | c.1129_1135AAAGAGGA>TTGTCA | p.K377Lfs*54 | Type other | Class C (C1) | Substitution | #NA |
| 101 | c.1129_1139del | p.K377Gfs*8 | Type other | Class D | Deletion | COSV57131834 |
| 102 | c.1129_1139delinsCTCTGCCTCC | p.K377Lfs*53 | Type other | Class C (C1) | Deletion+Insertion | COSV57121979 |
| 103 | c.1129_1140del | p.K377_E380del | Type other | Class E | Deletion | COSV100330572 |
| 104 | c.1129_1140delinsCTTTGCGA | p.K377Cfs*52 | Type other | Class C (C1) | Deletion+Insertion | #NA |
| 105 | c.1130_1154delinsTCCATCCTTGTC | p.K377Ifs*49 | Type other | Class C (C1) | Deletion+Insertion | COSV57128803 |
| 106 | c.1131_1152del | p.E378Rfs*45 | Type other | Class C (C2) | Deletion | #NA |
| 107 | c.1132_1153del | p.E378Rfs*45 | Type other | Class C (C2) | Deletion | COSV57131368 |
| 108 | c.1135del | p.E379Rfs*51 | Type other | Class C (C1) | Deletion | COSV104607542 |
| 109 | c.1135G>A | p.E379K | Type other | Class E | Substitution | #NA |
| 110 | c.1135_1147del | p.E379Rfs*47 | Type other | Class C (C1) | Deletion | #NA |
| 111 | c.1135_1152delinsCCTCCTCTTTGTCT | p.E379Pfs*50 | Type other | Class C (C1) | Deletion+Insertion | COSV57139539 |
| 112 | c.1136_1153del | p.E381_D386del | Type 2-like | Class E | Deletion | #NA |
| 113 | c.1137_1154delinsCCATCCTTGTC | p.E379Dfs*49 | Type other | Class C (C1) | Deletion+Insertion | COSV57132362 |
| 114 | c.1139del | p.E380Gfs*50 | Type other | Class C (C1) | Deletion | COSV57127252 |
| 115 | c.1139del+A1247T | p.E380Gfs*50 | Type other | Class D | Complex | #NA |
| 116 | c.1139del+c.1227_1228CC>GT | p.E380Gfs*50 | Type other | Class D | Complex | #NA |
| 117 | c.1139_1140insTC | p.E380Dfs*51 | Type other | Class C (C1) | Insertion | COSV57120796 |
| 118 | c.1140del | p.E381Rfs*49 | Type 2-like | Class B | Deletion | #NA |
| 119 | c.1141del | p.E381Rfs*49 | Type 2-like | Class B | Deletion | COSV57123940 |
| 120 | c.1142A>C | p.E381A | Type 2-like | Class E | Substitution | COSV105150604 |
| 121 | c.1142_1144del | p.E381del | Type 2-like | Class E | Deletion | #NA |
| 122 | c.1142_1151delinsCGGCATGTC | p.E381Afs*49 | Type 2-like | Class B | Deletion+Insertion | COSV57130288 |
| 123 | c.1143_1154delinsTCCTTGTC | p.E381Dfs*48 | Type 2-like | Class B | Deletion+Insertion | COSV57119915 |
| 124 | c.1145_1146insGACGC | p.E383Tfs*49 | Type 2-like | Class B | Insertion | COSV57126659 |
| 125 | c.1147_1151del | p.E383Qfs*4 | Type 2-like | Class D | Deletion | COSV100330423 |
| 126 | c.1147_1151delinsTGGT | p.E383Wfs*47 | Type 2-like | Class B | Deletion+Insertion | #NA |
| 127 | c.1147_1154delinsTGTC | p.E383Cfs*46 | Type 2-like | Class B | Deletion+Insertion | COSV57125882 |
| 128 | c.1148_1149insTCCTTGTC | p.E383Dfs*50 | Type 2-like | Class B | Insertion | COSV57137367 |
| 129 | c.1148_1154delinsGAC | p.E383Gfs*46 | Type 2-like | Class B | Deletion+Insertion | COSV57120963 |
| 130 | c.1149_1150insCAGAG | p.E383Cfs*46 | Type 2-like | Class B | Insertion | #NA |
| 131 | c.1149_1152GGAC>TTGTCA | p.E383Dfs*45 | Type 2-like | Class B | Substitution | #NA |
| 132 | c.1149_1154delinsTCCTTGTC | p.E383Dfs*48 | Type 2-like | Class B | Deletion+Insertion | #NA |
| 133 | c.1150_1154delinsTGTC | p.D384Cfs*46 | Type 2-like | Class B | Deletion+Insertion | COSV57130756 |
| 134 | c.1151_1152insTTGTC | p.K385Cfs*47 | Type 2-like | Class B | Insertion | COSV105150409 |
| 135 | c.1151_1154delinsCGTGTC | p.D384Afs*47 | Type 2-like | Class B | Deletion+Insertion | #NA |
| 136 | c.1151_1154delinsGCAATTGTC | p.D384Gfs*48 | Type 2-like | Class B | Deletion+Insertion | COSV57119061 |
| 137 | c.1151_1154delinsTTTGTC | p.D384Vfs*47 | Type 2-like | Class B | Deletion+Insertion | COSV57121968 |
| 138 | c.1152_1157del | p.D384_K385del | Type 2-like | Class E | Deletion | COSV100331222 |
| 139 | c.1153del | p.K385Rfs*45 | Type 2-like | Class B | Deletion | #NA |
| 140 | c.1153_1154delinsTCTTGTC | p.K385Sfs*47 | Type 2-like | Class B | Deletion+Insertion | COSV57121518 |
| 141 | c.1153_1154delinsTGTC | p.K385Cfs*46 | Type 2-like | Class B | Deletion+Insertion | COSV57124473 |
| 142 | c.1153_1154insTCTGT | p.K385Ifs*47 | Type 2-like | Class B | Insertion | COSV57126626 |
| 143 | c.1154del | p.K385Rfs*45 | Type 2-like | Class B | Deletion | COSV100331232 |
| 144 | c.1154delinsCTTGTC | p.K385Tfs*47 | Type 2-like | Class B | Deletion+Insertion | COSV57118276 |
| 145 | c.1154delinsTATGTC | p.K385Ifs*47 | Type 2-like | Class B | Deletion+Insertion | COSV57138769 |
| 146 | c.1154delinsTCTGTC | p.K385Ifs*47 | Type 2-like | Class B | Deletion+Insertion | COSV57136027 |
| 147 | c.1154delinsTGTGTC | p.K385Mfs*47 | Type 2-like | Class B | Deletion+Insertion | COSV57118181 |
| 148 | c.1154delinsTTTGTC | p.K385Ifs*47 | Type 2-like | Class B | Deletion+Insertion | COSV57120703 |
| 149 | c.1154_1154delinsGGTTGTC | p.R376Qfs*48 | Type 2-like | Class E | Deletion+Insertion | #NA |
| 150 | c.1154_1154delinsTTATC | p.L385Ifs*47 | Type 2-like | Class D | Deletion+Insertion | #NA |
| 151 | c.1154_1155insATGTC | p.E386Cfs*46 | Type 2-like | Class B | Insertion | COSV57118194 |
| 152 | c.1154_1155insTTGTC | p.K385Nfs*47 | Type 2-like | Class B | Insertion | COSV57116551 |
| 153 | c.1155_1156insTGTCG | p.E386Cfs*46 | Type 2-like | Class B | Insertion | COSV57117852 |
| 154 | c.1156G>T | p.E386* | Type 2-like | Class D | Substitution | COSV57126938 |
| 155 | c.1162del | p.D388Mfs*42 | Type 2-like | Class B | Deletion | COSV104394387 |
| 156 | c.1165G>T | p.E389* | Type 2-like | Class D | Substitution | COSV57120895 |
| 157 | c.1202_1213del | p.E405_D408del | Type 2-like | Class E | Deletion | #NA |
| 158 | c.1211_1217del | p.D404Gfs*24 | Type 2-like | Class B | Deletion | COSV57123007 |
| 159 | c.1214del | p.E405Gfs*25 | Type 2-like | Class B | Deletion | COSV57122750 |
| 160 | c.1215G>T | p.E405D | Type 2-like | Class E | Substitution | COSV105150522 |
| 161 | c.1221del | p.D408Mfs*22 | Type 2-like | Class D | Deletion | COSV105150608 |
| 162 | [c.1092G>C;1095_1140del] | p.K385Mfs*47 | Type 1-like | Class A | Complex | #NA |
| 163 | [c.1100_1136del;1142A>T] | p.L367Rfs*50 | Type 1-like | Class A | Complex | #NA |
| 164 | [c.1102A>G;c.1103_1136del] | p.K368E+K368fs*51 | Type 1-like | Class A | Complex | #NA |
| 165 | [c.1102_1135del;1145C>G] | p.K368Rfs*51 | Type 1-like | Class A | Complex | #NA |
| 166 | [c.1104_1137del;1146G>A] | p.E369Rfs*49 | Type 1-like | Class A | Complex | #NA |
| 167 | [c.1104_1137del;1148A>T] | p.E369Rfs*50 | Type 1-like | Class A | Complex | #NA |
| 168 | [c.1113A>C;1122_1140del] | p.E371D+K375Rfs*49 | Type other | Class C (C1) | Complex | #NA |
| 169 | [c.1151A>G;1154_1155insTTGTC] | p.K385Ifs*47 | Type 2-like | Class B | Complex | #NA |