Table 4 Clinical classification of mutated alleles.

M1V

c.1A>G

CF-PI

CF-causing

p.Met1Val

P5L

c.14C>T

CF-PS, CFTR-RD

nd

p.Pro5Leu

ex2,3del

c.54-5940_273+10250del21080

CF-PI

CF-causing

ex2del

c.54-1161_164+1603del2875

CF-PI

nd

W19X(TAG)

c.56G>A

CF-PI

nd

p.Trp19*

[L24F;296+2T>G]

c.[72G>C;164+2T>G]

uncertain: CF-PI and/or CF-PS

L24F nd; 296+2T>G nd

R31C

c.91C>T

CFTR-RD

non CF-causing

p.Arg31Cys

S42F

c.125C>T

uncertain: found only with an unknown allele in trans

nd

p.Ser42Phe

E56G

c.167G>A

CBAVD

nd

p.Glu56Lys

[R74W;V201M;D1270N]

c.[220C>T;601G>A;3808G>A]

uncertain: CF-PS and/or CFTR-RD and/or CBAVD

R74W varying clinical consequence; V201M nd;

p.[Arg74Trp;Val201Met;Asp1270Asn]

D1270N varying clinical consequence

[359insT;(TG)12T5]

c.[227_228insT;1210-14TG[12];1210-12T[5]]

uncertain: CF-PI and/or CF-PS and/or CFTR-RD

359insT nd; T5 varying clinical consequence

G85E

c.254G>A

CF-PI, CF-PS

CF-causing

p.Gly85Glu

D110H

c.328G>C

CF-PS

CF-causing

p.Asp110His

R117C

c.349C>T

CF-PS

CF-causing

p.Arg117Cys

R117H

c.350G>A

CFTR-RD

varying clinical consequence

p.Arg117His

[R117L;L997F]

c.[350G>T;2991G>C]

CF-PI, CF-PS

R117L nd; L997F non CF-causing

p.[Arg117Leu;Leu997Phe]

G126D

c.377G>A

uncertain: CF-PI and/or CF-PS

nd

p.Gly126Asp

H139R

c.416A>G

CF-PI, CF-PS

nd

p.His139Arg

574delA

c.442delA

CF-PI

CF-causing

p.Ile148LeufsX5

621+1G>T

c.489+1G>T

CF-PI

CF-causing

621+3A>G

c.489+3A>G

CFTR-RD

nd

G178R

c.532G>A

CF-PI

CF-causing

p.Gly178Arg

D192G

c.575A>G

CF-PS

nd

p.Asp192Gly

E193K

c.577G>A

CBAVD

nd

p.Glu193Lys

711+1G>T

c.579+1G>T

CF-PI

CF-causing

711+3A>G

c.579+3A>G

CF-PS

CF-causing

711+5G>A

c.579+5G>A

uncertain: CF-PI and/or CF-PS and/or CFTR-RD

CF-causing

and/or CBAVD

H199R

c.596A>G

CF-PI

nd

p.His199Arg

L206W

c.617T>G

CFTR-RD

CF-causing

p.Leu206Trp

Q220X

c.658C>T

CF-PI

CF-causing

p.Gln220*

852del22

c.720_741delAGGGAGAATGATGATGAAGTAC

CF-PI

CF-causing

p.Gly241GlufsX13

907delCins29

c.775delCinsTCTTCCTCAGATTCATTGTGATTACCTCA

uncertain: CF-PI and/or CF-PS

nd

C276X

c.828C>A

CF-PI

CF-causing

p.Cys276*

991del5

c.859_863delAACTT p.Asn287LysfsX19

CF-PI

nd

L320V

c.958T>G p.Leu320Val

uncertain: CF-PI and/or CF-PS and/or CFTR-RD

nd

R334W

c.1000C>T p.Arg334Trp

CF-PI, CF-PS

CF-causing

R334L

c.1001G>T p.Arg334Leu

CF-PS

nd

T338I

c.1013C>T p.Thr338Ile

CF-PS, CFTR-RD, CBAVD

CF-causing

R347P

c.1040G>C p.Arg347Pro

CF-PI, CF-PS

CF-causing

R347H

c.1040G>A p.Arg347His

CF-PS

CF-causing

[M348K;S912X]

c.[1043T>A;2735C>A] p.[Met348Lys;Ser912*]

CF-PI

M348K nd; S912X CF-causing

[1249-8A>G;G576A;R668C]

c.[1117-8A>G;1727G>C;2002C>T]

uncertain: found only with an unknown allele in trans

1249-8A>G nd; G576A non CF-causing; R668C non CF-causing

1259insA

c.1127_1128insA p.Gln378AlafsX4

CF-PI

CF-causing

E379X

c.1135G>T p.Glu379*

CF-PI

nd

M394R

c.1181T>G p.Met394Arg

CF-PI

nd

(TG)11T5

c.[1210-14TG[11];1210-12T[5]]

CFTR-RD, CBAVD

T5 varying clinical consequence

(TG)12T5

c.[1210-14TG[12];1210-12T[5]]

CF-PS, CFTR-RD, CBAVD

T5 varying clinical consequence

(TG)13T5

c.[1210-14TG[13];1210-12T[5]]

CF-PS, CFTR-RD

T5 varying clinical consequence

[(TG)11T5;V562I;A1006E]

c.[1210-14TG[11];1210-12T[5];1684G>A;3017C>A]

CF-PS, CFTR-RD

T5 varying clinical consequence; V562I nd; A1006E nd

K442X

c.1324A>T p.Lys442*

CF-PI

nd

T465N

c.1394C>A p.Thr465Asn

CF-PI

nd

[S466X(TGA);R1070Q]

c.[1397C>G;3209G>A] p.[Ser466*;Arg1070Gln]

CF-PI

S466X(TGA) CF-causing; R1070Q varying clinical consequence

[E479X;V754M]

c.[1435G>T;2260G>A] p.[Glu479*;Val754Met]

CF-PI

E479X nd; V754M non CF-causing

F508del

c.1521_1523delCTT p.Phe508del

CF-PI

CF-causing

1717-8G>A

c.1585-8G>A

CF-PI

CF-causing

1717-1G>A

c.1585-1G>A

CF-PI

CF-causing

D529N

c.1585G>A p.Asp529Asn

CF-PI

nd

G542X

c.1624G>T p.Gly542*

CF-PI

CF-causing

S549R(A>C)

c.1645A>C p.Ser549Arg

CF-PI

CF-causing

S549N

c.1646G>A p.Ser549Asn

CF-PI

CF-causing

S549R(T>G)

c.1647T>G p.Ser549Arg

CF-PI

CF-causing

G551D

c.1652G>A p.Gly551Asp

CF-PI

CF-causing

Q552X

c.1654C>T p.Gln552*

CF-PI

CF-causing

R553X

c.1657C>T p.Arg553*

CF-PI

CF-causing

L558S

c.1673T>C p.Leu558Ser

CF-PI

unknown significance

Y569D

c.1705T>G p.Tyr569Asp

CFTR-RD, CBAVD

unknown significance

L571S

c.1712T>C p.Leu571Ser

CF-PI

nd

[G576A;R668C]

c.[1727G>C;2002C>T] p.[Gly576Ala;Arg668Cys]

CFTR-RD

G576A non CF-causing; R668C non-CF causing

D579G

c.1736A>G p.Asp579Gly

CF-PS

varying clinical consequence

E585X

c.1753G>T p.Glu585*

CF-PI

CF-causing

H609L

c.1826A>T p.His609Leu

CFTR-RD

nd

A613T

c.1837G>A p.Ala613Thr

CF-PS

nd

D614G

c.1841A>G p.Asp614Gly

CF-PS

unknown significance

2143delT

c.2012delT p.Leu671*

CF-PS

CF-causing

2183AA>G

c.2051_2052delAAinsG p.Lys684SerfsX38

CF-PI, CF-PS

CF-causing

2184insA

c.2052_2053insA p.Gln685ThrfsX4

CF-PI

CF-causing

R709X

c.2125C>T p.Arg709*

CF-PI

CF-causing

L732X

c.2195T>G p.Leu732*

CF-PI

CF-causing

R764X

c.2290C>T p.Arg764*

CF-PI

CF-causing

Q779X

c.2335C>T p.Gln779*

uncertain: CF-PI and/or CF-PS

nd

E831X

c.2491G>T p.Glu831*

CF-PS

CF-causing

Y849X

c.2547C>A p.Tyr849*

CF-PI

CF-causing

ex14b-17bdel

c.2620-674_3367+198del9858

CF-PI

nd

2789+5G>A

c.2657+5G>A

CF-PI, CF-PS

CF-causing

2790-2A>G

c.2658-2A>G

CF-PS

nd

S912L

c.2735C>T p.Ser912Leu

uncertain: found only with an unknown allele in trans

nd

S945L

c.2834C>T p.Ser945Leu

CF-PS

CF-causing

S977F

c.2930C>T p.Ser977Phe

CFTR-RD

varying clinical consequence

L997F

c.2991G>C p.Leu997Phe

CF-PS, CFTR-RD, CBAVD

non CF-causing

ex17a-18del

c.2988+1173_3468+2111del8600

CF-PI

nd

P1013L

c.3038C>T p.Pro1013Leu

CFTR-RD

nd

Y1032C

c.3095A>G p.Tyr1032Cys

CFTR-RD

nd

3272-26A>G

c.3140-26A>G

CF-PS

CF-causing

L1065P

c.3194T>C p.Leu1065Pro

CF-PI, CF-PS

CF-causing

L1065R

c.3194T>G p.Leu1065Arg

uncertain: CF-PI and/or CF-PS

nd

R1066C

c.3196C>T p.Arg1066Cys

CF-PI

CF-causing

R1066H

c.3197G>A p.Arg1066His

CF-PI

CF-causing

G1069R

c.3205G>A p.Gly1069Arg

uncertain: found only with an unknown allele in trans

varying clinical consequence

L1077P

c.3230T>C p.Leu1077Pro

CF-PI

CF-causing

Y1092X(C>A)

c.3276C>A p.Tyr1092*

CF-PI

CF-causing

M1137V

c.3409A>G p.Met1137Val

CFTR-RD

nd

D1152H

c.3454G>C p.Asp1152His

CF-PI, CF-PS, CFTR-RD

varying clinical consequence

R1162X

c.3484C>T p.Arg1162*

CF-PI

CF-causing

D1168G

c.3503A>G p.Asp1168Gly

CFTR-RD

nd

3667ins4

c.3535_3536insTCAA p.Thr1179IlefsX17

CF-PI

CF-causing

S1206X

c.3617C>A p.Ser1206*

uncertain: CF-PI and/or CF-PS

nd

I1234V

c.3700A>G p.Ile1234Val

CF-PI, CF-PS

CF-causing

S1235R

c.3705T>G p.Ser1235Arg

CFTR-RD

non CF-causing

3849+10kbC>T

c.3717+12191C>T

CF-PI, CF-PS

CF-causing

V1240G

c.3719T>G

CFTR-RD

nd

p.Val1240Gly

G1244R

c.3730G>A p.Gly1244Arg

uncertain: CF-PI and/or CF-PS

nd

G1244E

c.3731G>A p.Gly1244Glu

CF-PI, CF-PS

CF-causing

G1247R(G>C)

c.3739G>C p.Gly1247Arg

CF-PS

nd

W1282X

c.3846G>A p.Trp1282*

CF-PI

CF-causing

Q1291R

c.3872A>G p.Gln1291Arg

CF-PI, CF-PS, CFTR-RD

nd

4016insT

c.3884_3885insT p.Ser1297PhefsX5

CF-PI

CF-causing

4040delA

c.3908delA p.Asn1303ThrfsX25

CF-PI

nd

N1303K

c.3909C>G p.Asn1303Lys

CF-PI

CF-causing

ex22-24del

c.3964-3890_4443+3143del9454ins5

CF-PI

nd

ex22,23del

c.3964-78_4242+577del 1532

CF-PI

CF-causing

4168delCTAAGCC

c.4036_4042del p.Leu1346MetfsX6

CF-PI

nd

G1349D

c.4046G>A p.Gly1349Asp

CF-PI

CF-causing

H1375P

c.4124A>C p.His1375Pro

uncertain: CF-PI and/or CF-PS

nd

S1455X

c.4364C>G p.Ser1455*

CF-PS, CFTR-RD

nd

Q1476X

c.4426C>T p.Gln1476*

CFTR-RD

nd