(ELEXACAFTOR/TEZACAFTOR/IVACAFTOR和IVACAFTOR)粗体突变被批准有效12/21/2020表1:响应Trikafta 3141del9 E822K G1069R L967S R967S R117L L967S R117L S912L S912L 546INSCA的CFTR基因突变列表R117P S945L A46D F311DEL G1249R L1077P R170H S977F A120T F311L F311L G1349D L1324P R258G S1159F S1159F A234D A234D F508C H139R L1335P L1335P R334L S1159P; H199Y L1480P R334Q S1251N A455E F508DEL* H939R M152V R347H S1255P A554E F575Y H1054D H1054D A1067T F1052V H1085R M952T R352Q T1053I D110E F1074L H1375P M1101K R352W V201M D110H F1099L F1099L I148T I148T P553Q V232D D192G D192G G27R I117R I117R I117R I117R I117R I117R I117R RAR D443Y G85E I336K P205S R751L V456F D443Y; G576A; R668C; R668C†G126D I502T P574H R792G V562I V562I D579G D579G G178E D578E I601F i601f i601f i601f Q98R R933G V733G V733G V733G V754M D614M D614M D614MD614MD614MD614MD614MD614MD614MD614MD614MD614MD614MD614 d614 d614m d614m d614 d614 d614 Q237E R1066H V1153E D836Y G194R I807M Q237H R1070Q V1240G D924N G194V I980K Q359R R1070W V1293G D979V G314E I1027T Q1291R R1162L W361R D1152H G463V I1139V R31L R1283M W1098C D1270N G480C I1269N R74Q R1283S W1282R