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Table 2 Rare mutations found in the Belgian CF-population and their prevalence

From: What can the CF registry tell us about rare CFTR-mutations? A Belgian study

Prevalence CFTR1-RM Non-CFTR1-RM
L165S  
Y913C, M1137Ra 1002-1113_110delGAAT
G458 V, E656X, W882X, 1833delT, L159S Y913S, IVS16-977_IVS17b + 247del2514
E588V, 3272-1G > A, 295ins8, G628R(G > C), 3750delAG, E664X, I105N, 1802delC, 306delTAGA, W1310X, 2116delCTAA, S1455X, P574H, 622-2A > C, 3199del6, c.325 T > C, R258G, c.580-2a > G, 2335delA, Q237E, 1717-3 T > Gb, W57R, 621 + 2 T > C, 1774delCT, 3600 + 2insTa, Q493Ra, G213 V c , V562I c , F932S, R810G, P750L, I125T, V938G, c.1076A > G, A120T 186-2A > G, 3730A > TCTb, 2005delTAc, K464E, c.1819_1902del, c.1648_1652dupATCATc, CFTRdelePr-1, G85R, c.2909-?_3367 +?delc,
c.4243-1G > A, p.Gln652x, c.4243_4244insCTGT, c.25dupG, p.Val1240_Gln1291del, c.461dup(p.ala155fs), g.3464_3471dupTCATTGCT;V1198 M, G551R, T854A
total 43 mutations 21 mutations
  1. Mutations are written as they are documented in the BCFR2013. For translation into HGVS nomenclature: see Additional file 1
  2. bold: mutations associated with sweat chloride < 60 mmol/L
  3. amutation in trans with a Non-CFTR1-RM
  4. bhomozygous for this RM
  5. cmutation in trans with a CFTR1-RM