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The CFTR-France database has retrieved 28 ISOSEMANTICS, which are displayed below:
| #Exon/intron | Name | Legacy name | Classe |
|---|---|---|---|
| Exon 4 | c.360G>A | A120A (492G/A) | VUS |
| Exon 6 | c.627A>G | A209A (759A/G) | VUS |
| Exon 8 | c.1116G>A | VUS | |
| Exon 9 | c.1209G>A | E403E (1341G/A) | disease-causing |
| Exon 11 | c.1581A>G | E527E (1713A/G) | VUS |
| Exon 11 | c.1584G>A | E528E (1716G/A) | non disease-causing |
| Exon 13 | c.1731C>T | Y577Y (1863C/T) | VUS |
| Exon 14 | c.1920T>C | F640F (2052T/C) | VUS |
| Exon 14 | c.2245C>T | L749L (2377C/T) | VUS |
| Exon 14 | c.2259C>T | S753S (2391C/T) | VUS |
| Exon 15 | c.2559T>C | I853I (2691T/C) | VUS |
| Exon 15 | c.2562T>C | T854T (2694T/C) | VUS |
| Exon 15 | c.2562T>G | T854T (2694T/G) | non disease-causing |
| Exon 15 | c.2604A>G | V868V (2736G/A) | VUS |
| Exon 17 | c.2679G>T | G893G (2811G/T) | VUS |
| Exon 17 | c.2898G>A | T966T (3030G/A) | non disease-causing |
| Exon 18 | c.2988G>A | Q996Q (3120G/A) | disease-causing |
| Exon 20 | c.3285A>T | T1095T (3417A/T) | VUS |
| Exon 20 | c.3288G>A | VUS | |
| Exon 21 | c.3468G>A | L1156L (3600G/A) | disease-causing |
| Exon 22 | c.3681A>G | L1227L (3813A/G) | VUS |
| Exon 23 | c.3837G>A | L1279L (3969G/A) | VUS |
| Exon 23 | c.3870A>G | P1290P (4002A/G) | non disease-causing |
| Exon 24 | c.3897A>G | T1299T (4029A/G) | non disease-causing |
| Exon 26 | c.4188A>G | T1396T (4320A/G) | VUS |
| Exon 26 | c.4224G>A | 4356G/A | VUS |
| Exon 27 | c.4272C>T | Y1424Y (4404C/T) | non disease-causing |
| Exon 27 | c.4389G>A | Q1463Q (4521G/A) | non disease-causing |