From: Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
Indiv No. | Age at Diagnosis | Phenotype | CFTR Mutations | CFTR haplotype | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|
IVS1 | IVS8 | IVS8 | IVS8 | 470 | IVS17B | IVS17B | EGHa | ||||
CA | CA | TGm | Tn | TA | CA | ||||||
CF1 | 7 yrs | CF-PI | c.394delTT | 21 | 23 | 10 | 9 | M | 36 | 13 | B |
c.3199del6 | 22 | 16 | 11 | 7 | V | 7 | 17 | C | |||
CF2 | 10 yrs | CF-PS | [c.3395insA;p.I148T] | 21 | 23 | 10 | 9 | M | 7 | 17 | B |
p.R334W | 22 | 17 | 11 | 7 | V | 46 | 13 | A | |||
CF3 | 6 ms | CF-PI | [c.3199del6;p.I148T] | 21 | 23 | 10 | 9 | M | 7 | 17 | B |
p.F508del | 21 | 23 | 10 | 9 | M | 31 | 13 | B | |||
CF4 | 3 yrs | CF-PI | [c.3199del6;p.I148T] | 22 | 23 | nd | 9 | M | 7 | 17 | B |
p.F508del | 22 | 17 | nd | 9 | M | 31 | 15 | B | |||
CF5 | 6 ms | CF-PI | [c.3199del6;p.I148T] | 22 | 23 | nd | 9 | M | 7 | 17 | B |
p.F508del | 22 | 23 | nd | 9 | M | 31 | 13 | B |