Table 2.
Exon | Mutations |
---|---|
1 | c.1A>T, c. 13G>A |
2 | c.29G>A, c.34G>C, c.43G>A, c.52G>A, c.92C>A, c.95A>C, c.97C>T, c.98G>A, c.101delA, c.101_102delAG, c.101A>G, c.110C>T, c.118C>T, c.124C>T, c.125G>A, c.125G>C, c.136G>A, c.136G>C, c.155delA, c.156_157insT, c.160T>A, c.164C>T, c.167T>A |
3 | c.220_221insGT, c.235G>T, c.245C>A, c.256G>A, c.300G>C, c.310C>T, c.337_376del40, c.397_399delCCA, c.428A>G |
4 | c.434G>A, c.458V>G, c.483A>T, c.497G>A, c.500G>A, c.511C>T, c.518C>T |
5 | c.536delG, c.574A>C, c.574A>G, c.600C>G |
6 | c.632A>G, c.633A>T, c.634delT, c.634T>G, c.635G>A, c.645C>A, c.688G>A, c.701G>A, c.714G>A, c.719C>G, c.719C>T, c.727G>A, c.730G>A |
7 | c.758G>A, c.758G>T, c.759C>G, c.766C>T, c.772G>A, c.794A>G, c.799T>C, c.804T>A, c.813A>T, c.814C>A, c.818A>G, c.823C>T, c.838G>A, c.848T>C, c.850G>C, c.865T>G, c.871delG |
8 | c.892A>C, c.893T>G, c.930G>C, c.931C>T, c.933G>T |
9 | c.968_973delGTGTCC, c.971delT, c.983G>A, c.1000C>T, c.1001G>A, c.1015G>T, c.1041_1042delGA, c.1046_1047delAA, c.1051A>C, c.1076G>A |
10 | c.1096C>T, c.1097G>A, c.1138G>C |
11 | c.1175_1176delGA, c.1180G>A, c.1183G>T, c.1186A>G, c.1192G>A, c.1204C>T, c.1205G>A, c.1225G>T, c.1244C>A, c.1252T>C, c.1283_1284insA |
12 | c.1286G>A, c.1289G>A, c.1292G>T, c.1310C>T, c.1321T>C, c.1330G>C, c.1335G>A, c.1358G>A, c.1372A>C, c.1378_1379insG, c.1393G>A |