Table 5 Molecular findings among pediatric patients diagnosed with CF in a tertiary level hospital in Ecuador
Genetic identification | Nucleotide identification | Protein identification (change) | Number of reports | Heterozygosis | Homozygosis |
|---|---|---|---|---|---|
g.19395G > A | – | – | 2 | – | 2 |
g.43555G > C | – | – | 1 | 1 | – |
g.43575G > C | – | – | 1 | 1 | – |
g.43580G > T | – | – | 1 | 1 | – |
g.43583A > G | – | – | 1 | 1 | – |
g.43592 T > C | c.164 + 12 T > C | – | 2 | 2 | – |
g.43594A > G | – | – | 1 | 1 | – |
g.48340G > A | c.254G > A | p.Gly85Glu (G85E) | 4 | 4 | – |
g.73512G > A | c.509G > A | p.Arg170His (R170H) | 1 | 1 | – |
g.70332G > T | c.489 + 1G > T | 621 + 1G > T | 1 | 1 | – |
g.74534G > C | c.1624G > T | p.Gly542Ter (G542X) | 2 | 2 | – |
g.206154C > T | c.869 + 11C > T | – | 4 | 3 | 1 |
g.79435G > T | c.988G > T | p.Gly330Ter (G330*) | 1 | – | 1 |
g.98696A > G | c.1408= | p.Val470 = (M470V) | 6 | 3 | 3 |
g.98808_98811delTCT | c.1521_1523del | p.Phe508del (F508del) | 19 | 15 | 4 |
g.131210A > G | c.1826A > G | p.His609Arg (H609R) | 13 | 11 | 2 |
g.117592218_117592219dup | c.2052dupA | p.Gln685fs (Gln685Thrfs) | 1 | 1 | – |
g.117592382del | c.2215del | p.Val739fs (2347delG) | 1 | 1 | – |
g.134218 T > G | c.2562 T > G | p.Thr854 = (T854T) | 1 | 1 | – |
g.142999 G > A | c.2908G > A | p.Gly970Ser (G970S) | 1 | 1 | – |
g.143018G > T | – | – | 1 | 1 | – |
g.149918 T > A | – | – | 1 | 1 | – |
g.74629 T > C | c.3294G > A | p.Trp1098Ter (W1098X) | 3 | 3 | – |
g.181807A > G | c.3870A > G | p.Pro1290 = (P1290P) | 1 | 1 | – |
g.192094C > G | c.3909C > G | p.Asn1303Lys (N1303K) | 4 | 4 | – |
g.204099A > C | – | – | 7 | – | 7 |
g.129569G > A | c.1680-1G > A | 1812-1G > A | 1 | 1 | – |
g.206271 G > A | c.4387C > T | p.Gln1463Ter (Q1463*) | 2 | 2 | – |
g.206359C > A | – | – | 4 | – | 4 |