Table 2. Subjects carrying one CF-causing from the California 40 panel plus one or more sequenced mutations of unknown disease liability who met diagnostic criteria for CF based on sweat chloride levels and/or pancreatic insufficiency (PI) status.
Mutations are described by legacy names.
| Unknown disease liability group: Individual genotypes | ||||
|---|---|---|---|---|
| n | CF-C mutation | Sequenced mutation 1 | Sequenced mutation 2 | Annotation of sequenced mutations 1and 2 |
| Sweat chloride 30–59 mmol/L and PI | ||||
| 1 | F508del | 2789+2insA | - | Non-canonical splice |
| Sweat Chloride ≥60 mmol/L and PI | ||||
| 1 | F508del | 1138insG | - | Frameshift |
| 1 | F508del | F1016S | L102R | Missense, missense |
| 1 | F508del | 1343delG | - | Frameshift |
| 1 | F508del | 296+28A>G and 2686-2687insT | - | Non-canonical splice and frameshift |
| 1 | F508del | 2481_2482insT | - | Frameshift |
| 2 | F508del | 2215insG | D836Y | Frameshift, missense |
| 1 | F508del | I1005R | - | Missense |
| 1 | F508del | 3199del6 | - | In-frame deletion |
| 1 | F508del | -816C>T | F1107L | Promoter, missense |
| 1 | F508del | 1410delC | I556V | Frameshift, missense |
| 1 | F508del | 3015_3018dupGTCA | - | Frameshift |
| 1 | S549N | 1949del84 | - | In-frame deletion |
| 1 | W1089X | 1811+1G>A | - | Canonical splice |
| 1 | R75X | T1036N | - | Missense |
| Sweat Chloride ≥60 mmol/L and PS | ||||
| 1 | F508del | S1159P | - | Missense |
| 1 | F508del | T1076P | Missense | |
| 1 | F508del | L32M | - | Missense |
| 1 | F508del | T1036N | - | Missense |
| 1 | F508del | c.-152G>C* | - | Promoter |
| 1 | F508del | G126D | - | Missense |
| 1 | F508del | Y917C | - | Missense |
| 1 | P205S | K114del | - | In-frame deletion |
| 1 | N1303K | K162E | - | Missense |
| 1 | N1303K | Q359K/T360K | - | Missense |
| 1 | 663delT | I105N | - | Missense |
| 1 | 935delA | T1036N | - | Missense |
* Only cDNA name available for this mutation.