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Table 2 Causative mutations identified in 84 patients with diagnosed CF

From: Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

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

  1. 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
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BMC Medical Genomics

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