Allele 1*
| |
Allele 2*
|
n
|
PT
|
---|
PANCREATIC SUFFICIENT DISEASE (N = 37)
|
3849 + 10kbC > T
| |
F508del
|
8
|
M
|
3849 + 10kbC > T
| |
F508del;L467F
|
1
|
M
|
3849 + 10kbC > T;R668C
| |
F508del
|
1
|
M
|
3849 + 10kbC > T;R668C
| |
R1066C
|
1
|
M
|
3849 + 10kbC > T;R668C
| |
2143delT
|
1
|
M
|
3849 + 10kbC > T
| |
I1295Ffs
|
1
|
M
|
3849 + 10kbC > T
| |
S1226*
|
1
|
M
|
3272-16 T > A†
|
R347P†
| |
394delTT†
|
1
|
M
|
3272-16 T > A
| |
F508del
|
3
|
M
|
2789 + 5G > A
| |
F508del;L467F
|
1
|
M
|
2789 + 5G > A
| |
ex2,3del
|
1
|
M
|
3272-11A > G
| |
F508del
|
1
|
M
|
E92K
| |
E92K
|
1
|
M
|
E92K
| |
F508del
|
7
|
M
|
E92K
| |
ex2,3del
|
1
|
M
|
S1159P
| |
F508del
|
1
|
S
|
R334W
| |
F508del
|
1
|
M
|
R347P
| |
W1282R
|
1
|
M
|
L138ins
| |
F508del
|
2
|
M
|
L1335P
| |
F508del
|
1
|
M
|
I1295Ffs
| |
F508del
|
1
|
S
|
PANCREATIC INSUFFICIENT DISEASE (N = 47)
|
Y569H
| |
F508del
|
1
|
S
|
G461E
| |
N1303 K
|
1
|
S
|
S1159F
| |
S1159F
|
1
|
M
|
Q98R
| |
2184insA
|
1
|
M
|
Q98R
| |
G542*
|
1
|
M
|
F508del
| |
F508del
|
6
|
S
|
F508del
| |
W1282R
|
2
|
S
|
F508del
| |
S945 L
|
2
|
S
|
F508del
| |
R1070Q;S466*
|
1
|
S
|
F508del
| |
ex2,3del
|
4
|
S
|
F508del;L467F
| |
ex2,3del
|
1
|
S
|
F508del
| |
2143delT
|
3
|
S
|
F508del;L467F
| |
2143delT
|
1
|
S
|
F508del
| |
2184insA
|
1
|
S
|
F508del
| |
N415*
|
1
|
S
|
F508del
| |
R1239=
|
2
|
S
|
F508del
| |
R785*
|
1
|
S
|
F508del
| |
dup6b,10
|
1
|
S
|
F508del
| |
R709*
|
1
|
S
|
F508del
| |
1898 + 1G > C
|
1
|
S
|
F508del
| |
4374 + 1G > A
|
1
|
S
|
F508del
| |
3821delT
|
1
|
S
|
F508del
| |
L15Ffs
|
1
|
S
|
N1303 K
| |
N1303 K
|
1
|
S
|
N1303 K
| |
ex2,3del
|
1
|
S
|
R785*
| |
R1070Q;S466*
|
1
|
S
|
ex2,3del
| |
ex2,3del
|
1
|
S
|
ex2,3del
| |
2184insA
|
1
|
S
|
ex2,3del
| |
N415*
|
1
|
S
|
394delTT
| |
2184insA
|
1
|
S
|
4374 + 1G > T
| |
4374 + 1G > T
|
1
|
S
|
dup6b,10
| |
712-1G > T
|
1
|
S
|
1716 + 1G > A
| |
2043delG
|
1
|
S
|
2118del4
| |
1248 + 1G > A
|
1
|
S
|
- Phenotype is displayed in the PT columns (M – “mild”; S – “severe”, where “mild” is defined as homozygous or heterozygous for class IV-V mutations and “severe” as homozygous for class I-III mutations). cDNA variant names according to HGVS nomenclature are given below the table for each variant. Variants were referenced using NM_000492.3. *Identified variants: 3849 + 10kbC > T (c.3718-2477C > T); 3272-16 T > A (c.3140-16 T > A); 2789 + 5G > A (c.2657 + 5G > A); 3272-11A > G (c.3140-11A > G); E92K (c.274G > A); S1159F (c.3476C > T); R334W (c.1000C > T); R347P (c.1040G > C); Q98R (c.293A > G); L138ins (c.412_413insACT); L1335P (c.4004 T > C); Y569H (c.1705 T > C); G461E (c.1382G > A); S1159P (c.3476C > T); F508del (c.1521_1523delCTT); N1303 K (c.3909C > G); W1282R (c.3844 T > C); S945 L (c.2834C > T); R1070Q (c.3209G > A); R1066C (c.3196C > T); ex2,3del (p.Ser18_Gly91del); 2143delT (c.2012delT); 394delTT (c.262_263delTT); 2184insA (c.2052dupA); 1295Ffs (c.3883delA); R1239 = (c.3717G > A);N415* (c.1240_1244delCAAAA); R785* (c.2353C > T); 4374 + 1G > T (c.4242 + 1G > T); R668C (c.2002C > T);dup6b,10 (c.(743 + 1_744-1)_(1584 + 1_1585-1)dup); S466* (c.1397C > A); R709* (c.2125C > T); S1226* (c.3587C > G); 1898 + 1G > C (c.1766 + 1G > C); 1716 + 1G > A (c.1584 + 1G > A); 4374 + 1G > A (c.4242 + 1G > A); 3874-14C > T (c.3874-14C > G); 3821delT (c.3691delT); 2118del4 (c.1984_1987delCTAA); 1248 + 1G > A (c.1116 + 1G > A); L15Ffs (c.43delC); G542* (c.1624G > T); 2043delG (c.1911delG); L467F (c.1399C > T); † Cis/trans position of alleles could not be identified