Personalized CFRD Risk Based on Genetic and Clinical Measures at Birth
Year of Birth
CFTR Genotype Mutation 1
(3499+37G>A)
(p.PHE342fs)
-589G>A
-743delT
1002-2A>G
1078delT
1138insG
1138insG
11531154dup
1154InsTC
1154insTC
1154insTC
1154insTC
1161delC
1161delC
1213delT
1248+1G>A
1249-27delTA
1249-29delAT
1259insA
1288INTA
1288insTA
1309delG
1342-1delG
1366delG
1461ins4
1461ins4(AGAT)
1461insAGAT
1524+1G>A
1525-1G>A
1525-2A>G
1716-1G>A
1716G>A
1717-1G->A
1717-1G->A
1717-1G>A
1717-1G>A
1811+1G>C
185+1G>T
1868A>G
1868A>G
1874insT
1898+1G->A
1898+1G>A
1898+1G>A
1898+3G>A
2002del8(GCTATTTT)
2105-2117 del13insAGAAA
2118del4
2142delT
2143delT
2183AA->G
2183AA-G
2183AA>G
2183AA>G
2183delAA>G
2183delT
2184DELA
2184DELA
2184delA
2184delA
2184insA
2184insA
2189CT->A
2347delG
237insA
2585delT
2622+1G>A
2622+1G>A
2622+1G>T
2752-2A>G
2787del16bps
2789+2insA
2789+5C>T
2789+5G->A
2789+5G>A
2789+5G>A
2789+5G>A
2789+5G>A;I102(7T)
2951insA
296+1G>T
3007delG
3028delA
306insA
3120+1G->A
3120+1G>A
3120+1G>T
3120G>A
3121-2A>G
3154delG
3171delC
3171insC
3199del6
3271+1G>T
3272-26A>G
3272-93
3273-26A>G
3349insT
3396delC
3447delG
360-365insT
3600+1G>T
3600+2insT
3600G>A
360insT
3617delGA
365-366insT
3659DELC
3659delC
3659delC
3662delA
3667ins4(TCAA)
3786delA
3791delC
3849+10kbC>T
3849+10kbC>T
3849+10kbC>T; R668C
3849+10kbc>T
3849G>A
3850-3T>G;R75Q
3876delA
3905insT
3905insT
394delTT
4005+2T>C
4005+2T>C
4010del4(TATT)
4016insT
4016insT
4016onsT
4022insT
406-1G->A
406-1G>A
4089delA
4209TGTT>AA
4326delTC
4374+1G>A
4374+1G>T
441delA
457TATdelinsG
474del13BP,490C>G,491G->
546insCTA
557delT
5T
621+1G->T
621+1G->T
621+1G>T
621+1G>T
621+2G>T
650delATAAA
654del5
681delC
711+1G>T
711+1G>T
711+3A>G
711+5G>A
712-1G->T
712-1G->T
712-1G->T
712-1G>T
7T
7T
875+1G>C
875+40A>G
A1006E+V562IINCIS
A1006E+V562I_in_cis
A1067V
A1076V
A155P
A455E
A455E
A455E
A559T
A559T
A561E
A613T
C276X
C332T
C524X
CFTRdele10
CFTRdele10
CFTRdele17A-18
CFTRdele2
CFTRdele2(ins186)
CFTRdele2,3
CFTRdele2,3
CFTRdele2-3
CFTRdele2-3
CFTRdele2-4
CFTRdele4-8
D110H
D1152H
D1152H
D1152H
D1270N
D1270N; R74W
D443Y
D579G
D579G
D614G
DF508
DF508
DI507
Dup ex6b-10
E1104X
E116K
E193X
E585X
E585X
E60X
E60X
E60X
E831X
E92X
F
F
F(_I507)
F(_I507)
F508
F508
F508C
F508I (c.1663T>A)
F508del
F508del
G1003E
G1244E
G1244E
G1247R
G178R
G239R
G27X
G330X
G458V
G458V
G480S
G542X
G542X
G542X
G551D
G576A
G628R(5T)
G85E
G85E
G85E
H1079P
H199R
I1027T
I1234V
I148T
I148T
I148T;3199del6
I336K
I444S
I506T
I506T
I507
I507
I507
I507del
IVS8(5T)
IVS8(5T)
K553X
K710X
K793X
L1077P
L1077P
L1254X
L1335P
L1335P
L138ins
L145H
L165S
L206W
L206W
L206W
L218X
L218X
L468P
L558S
L558S
L732X
L88X(T>G)
L997F
M1101K
M1101K
M1137V
M150K
N1303K
N1303K
N396Y
P574H
P67L
P67L
P67L
Q1035X
Q1042X
Q1071K
Q1209P
Q1291H
Q1291H
Q1313X
Q1313X and I1027T
Q1382X
Q1411X
Q1412X
Q220X
Q2X
Q39X
Q414X
Q493X
Q493X
Q552X
Q552X
Q814X
Q890X
R1066C
R1066C
R1066C;IVS8(5T)
R1070Q
R1070W
R1117H
R1158X
R1158X
R1162X
R1162X
R117C
R117H
R117H
R117H
R117H(5T)
R117H(5T)
R117H(7T)
R117P
R31L
R334L
R334W
R334W
R334W
R347H
R347H
R347P
R347P
R347P/R347H
R352Q
R553X
R553X
R553X
R555G
R560K
R560T
R560T
R668C
R709X
R709X
R75Q
R75X
R75X
R785X
R792X
R851X
S1118C
S1159F
S1196X
S1235R
S1251N
S1251N
S1251N(F508C)
S341P
S341P
S466X(TAG)
S489X
S489X
S492F
S492F
S4X
S4X
S549N
S549N
S549R
S912X
S954L
T1299I
T338I
V1153E
V1240G; R75Q
V232D
V392G
V456A
V520F
V520F
V562I; IVS8(5T)
W1089X
W1089X
W1098R
W1098R
W1204X
W1204X
W1274X
W1282X
W1282X
W1282X
W57X
W679X
W846X
Y1092X
Y1092X
Y1092X1001+11CORdelTAF508
Y109C
Y122X
Y1307X
Y503N
Y569D
Y569D
Y849X
Y914C
[delta]F508
[delta]F508
[delta]F508/I507
[delta]F508;I1027T
[delta]I507
[delta]I507
_I507
c.4021dupT
del X22-24
del exons 2-3
delF508
delF508
delI507
ex14a
t1299i
CFTR Genotype Mutation 2
(3499+37G>A)
(p.PHE342fs)
-589G>A
-743delT
1002-2A>G
1078delT
1138insG
1138insG
11531154dup
1154InsTC
1154insTC
1154insTC
1154insTC
1161delC
1161delC
1213delT
1248+1G>A
1249-27delTA
1249-29delAT
1259insA
1288INTA
1288insTA
1309delG
1342-1delG
1366delG
1461ins4
1461ins4(AGAT)
1461insAGAT
1524+1G>A
1525-1G>A
1525-2A>G
1716-1G>A
1716G>A
1717-1G->A
1717-1G->A
1717-1G>A
1717-1G>A
1811+1G>C
185+1G>T
1868A>G
1868A>G
1874insT
1898+1G->A
1898+1G>A
1898+1G>A
1898+3G>A
2002del8(GCTATTTT)
2105-2117 del13insAGAAA
2118del4
2142delT
2143delT
2183AA->G
2183AA-G
2183AA>G
2183AA>G
2183delAA>G
2183delT
2184DELA
2184DELA
2184delA
2184delA
2184insA
2184insA
2189CT->A
2347delG
237insA
2585delT
2622+1G>A
2622+1G>A
2622+1G>T
2752-2A>G
2787del16bps
2789+2insA
2789+5C>T
2789+5G->A
2789+5G>A
2789+5G>A
2789+5G>A
2789+5G>A;I102(7T)
2951insA
296+1G>T
3007delG
3028delA
306insA
3120+1G->A
3120+1G>A
3120+1G>T
3120G>A
3121-2A>G
3154delG
3171delC
3171insC
3199del6
3271+1G>T
3272-26A>G
3272-93
3273-26A>G
3349insT
3396delC
3447delG
360-365insT
3600+1G>T
3600+2insT
3600G>A
360insT
3617delGA
365-366insT
3659DELC
3659delC
3659delC
3662delA
3667ins4(TCAA)
3786delA
3791delC
3849+10kbC>T
3849+10kbC>T
3849+10kbC>T; R668C
3849+10kbc>T
3849G>A
3850-3T>G;R75Q
3876delA
3905insT
3905insT
394delTT
4005+2T>C
4005+2T>C
4010del4(TATT)
4016insT
4016insT
4016onsT
4022insT
406-1G->A
406-1G>A
4089delA
4209TGTT>AA
4326delTC
4374+1G>A
4374+1G>T
441delA
457TATdelinsG
474del13BP,490C>G,491G->
546insCTA
557delT
5T
621+1G->T
621+1G->T
621+1G>T
621+1G>T
621+2G>T
650delATAAA
654del5
681delC
711+1G>T
711+1G>T
711+3A>G
711+5G>A
712-1G->T
712-1G->T
712-1G->T
712-1G>T
7T
7T
875+1G>C
875+40A>G
A1006E+V562IINCIS
A1006E+V562I_in_cis
A1067V
A1076V
A155P
A455E
A455E
A455E
A559T
A559T
A561E
A613T
C276X
C332T
C524X
CFTRdele10
CFTRdele10
CFTRdele17A-18
CFTRdele2
CFTRdele2(ins186)
CFTRdele2,3
CFTRdele2,3
CFTRdele2-3
CFTRdele2-3
CFTRdele2-4
CFTRdele4-8
D110H
D1152H
D1152H
D1152H
D1270N
D1270N; R74W
D443Y
D579G
D579G
D614G
DF508
DF508
DI507
Dup ex6b-10
E1104X
E116K
E193X
E585X
E585X
E60X
E60X
E60X
E831X
E92X
F
F
F(_I507)
F(_I507)
F508
F508
F508C
F508I (c.1663T>A)
F508del
F508del
G1003E
G1244E
G1244E
G1247R
G178R
G239R
G27X
G330X
G458V
G458V
G480S
G542X
G542X
G542X
G551D
G576A
G628R(5T)
G85E
G85E
G85E
H1079P
H199R
I1027T
I1234V
I148T
I148T
I148T;3199del6
I336K
I444S
I506T
I506T
I507
I507
I507
I507del
IVS8(5T)
IVS8(5T)
K553X
K710X
K793X
L1077P
L1077P
L1254X
L1335P
L1335P
L138ins
L145H
L165S
L206W
L206W
L206W
L218X
L218X
L468P
L558S
L558S
L732X
L88X(T>G)
L997F
M1101K
M1101K
M1137V
M150K
N1303K
N1303K
N396Y
P574H
P67L
P67L
P67L
Q1035X
Q1042X
Q1071K
Q1209P
Q1291H
Q1291H
Q1313X
Q1313X and I1027T
Q1382X
Q1411X
Q1412X
Q220X
Q2X
Q39X
Q414X
Q493X
Q493X
Q552X
Q552X
Q814X
Q890X
R1066C
R1066C
R1066C;IVS8(5T)
R1070Q
R1070W
R1117H
R1158X
R1158X
R1162X
R1162X
R117C
R117H
R117H
R117H
R117H(5T)
R117H(5T)
R117H(7T)
R117P
R31L
R334L
R334W
R334W
R334W
R347H
R347H
R347P
R347P
R347P/R347H
R352Q
R553X
R553X
R553X
R555G
R560K
R560T
R560T
R668C
R709X
R709X
R75Q
R75X
R75X
R785X
R792X
R851X
S1118C
S1159F
S1196X
S1235R
S1251N
S1251N
S1251N(F508C)
S341P
S341P
S466X(TAG)
S489X
S489X
S492F
S492F
S4X
S4X
S549N
S549N
S549R
S912X
S954L
T1299I
T338I
V1153E
V1240G; R75Q
V232D
V392G
V456A
V520F
V520F
V562I; IVS8(5T)
W1089X
W1089X
W1098R
W1098R
W1204X
W1204X
W1274X
W1282X
W1282X
W1282X
W57X
W679X
W846X
Y1092X
Y1092X
Y1092X1001+11CORdelTAF508
Y109C
Y122X
Y1307X
Y503N
Y569D
Y569D
Y849X
Y914C
[delta]F508
[delta]F508
[delta]F508/I507
[delta]F508;I1027T
[delta]I507
[delta]I507
_I507
c.4021dupT
del X22-24
del exons 2-3
delF508
delF508
delI507
ex14a
t1299i
Sex
Male
Female
Meconium Ileus (Y/N)
Y
N
PRSS1: rs1964986 (Number of C alleles)
0
1
2
SLC26A9: rs4077468 (Number of A alleles)
0
1
2
TCF7L2: rs7903146 (Number of T alleles)
0
1
2
CAV1: rs959173 (Number of C alleles)
0
1
2
NRG1: rs7822917 (Number of T alleles)
0
1
2
SLC5A8: rs12318809 (Number of G alleles)
0
1
2
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