1 |
F508del/2143delT, F508del/2183AA->G, F508del/2721del11, F508del/3121-2A->G, F508del/3171insC, F508del/3600+2insT, F508del/G551D, F508del/N1303K, F508del/R117H, F508del/R352Q, F508del/R553X, F508del/R851X, CFTRdele2,3/CFTRdele2,3, CFTRdele2,3/3849+10kbC->T, CFTRdele2,3/unknown, CFTRdele2,3/N1303K, N1303K/G551D, N1303K/unknown, 1524+1G->A/3944delGT;406-6T->C, 1717-1G->A/unknown, 2183AA-G/1717-1G->A, 2184insA/unknown, 3272-26A>G/unknown, 3659delC/R153I, 3849+10kbC->T/3600+1G>T, S1196X/Q138X, T581l/2721del11 |