. 2017 Aug 22;12:142. doi: 10.1186/s13023-017-0694-1

Table 2.

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

Prevalence	CFTR1-RM	Non-CFTR1-RM
5×	L165S
3×	Y913C, M1137R^a	1002-1113_110delGAAT
2×	G458 V, E656X, W882X, 1833delT, L159S	Y913S, IVS16-977_IVS17b + 247del2514
1×	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 > G^b, W57R, 621 + 2 T > C, 1774delCT, 3600 + 2insT^a, Q493R^a, G213 V ^c , V562I ^c , F932S, R810G, P750L, I125T, V938G, c.1076A > G, A120T	186-2A > G, 3730A > TCT^b, 2005delTA^c, K464E, c.1819_1902del, c.1648_1652dupATCAT^c, CFTRdelePr-1, G85R, c.2909-?_3367 +?del^c, 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

Mutations are written as they are documented in the BCFR2013. For translation into HGVS nomenclature: see Additional file 1

bold: mutations associated with sweat chloride < 60 mmol/L

^amutation in trans with a Non-CFTR1-RM

^bhomozygous for this RM

^cmutation in trans with a CFTR1-RM