Genetic identification | Nucleotide identification | Protein identification (change) | dbSNP ID | Clinical Significance | Molecular consequence | Class of allele mutation | Clinical classification | CFTR 2 database patient reports |
---|---|---|---|---|---|---|---|---|
g.19395G > A | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.43555G > C | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.43575G > C | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.43580G > T | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.43583A > G | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.43592 T > C | c.164 + 12 T > C | – | rs121908790 | Uncertain | Intron variant | Non classified | Non classified | Not reported |
g.43594A > G | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.48340G > A | c.254G > A | p.Gly85Glu (G85E) | rs75961395 | Pathogenic | Missense variant | Class II | A group | 584 |
g.73512G > A | c.509G > A | p.Arg170His (R170H) | rs1800079 | Pathogenic | Missense variant | Non classified | Non classified | 11 |
g.70332G > T | c.489 + 1G > T | 621 + 1G > T | rs78756941 | Pathogenic | Splice donor variant | Class I | A group | 1293 |
g.74534G > C | c.1624G > T | p.Gly542Ter (G542X) | rs113993959 | Pathogenic | Nonsense variant | Class I | A group | 3489 |
g.206154C > T | c.869 + 11C > T | – | rs1800503 | Benign | Intron variant | Non classified | Non classified | Not reported |
g.79435G > T | c.988G > T | p.Gly330Ter (G330*) | rs79031340 | Pathogenic | Nonsense variant | Non classified | Non classified | 23 |
g.98696A > G | c.1408= | p.Val470 = (M470V) | rs213950 | Benign | Missense variant | Non classified | C group | 209 |
g.98808_98811delTCT | c.1521_1523del | p.Phe508del (F508del) | rs113993960 | Pathogenic | Inframe variant | Class II | A group | 65,046 |
g.131210A > G | c.1826A > G | p.His609Arg (H609R) | rs397508310 | Pathogenic | Missense variant | Non classified | Non classified | 9 |
g.117592218_117592219dup | c.2052dupA | p.Gln685fs (Gln685Thrfs) | rs121908746 | Pathogenic | frameshift variant | Non classified | Non classified | 324 |
g.117592382del | c.2215del | p.Val739fs (2347delG) | rs397508353 | Pathogenic | Frameshift variant | Non classified | Non classified | 38 |
g.134218 T > G | c.2562 T > G | p.Thr854 = (T854T) | rs1042077 | Benign | Synonymous variant | Non classified | Non classified | 36 |
g.142999 G > A | c.2908G > A | p.Gly970Ser (G970S) | rs397508453 | Uncertain | Missense variant | Non classified | Non classified | 10 |
g.143018G > T | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.149918 T > A | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.74629 T > C | c.3294G > A | p.Trp1098Ter (W1098X) | rs397508533 | Pathogenic | Nonsense variant | Non classified | Non classified | 9 |
g.181807A > G | c.3870A > G | p.Pro1290 = (P1290P) | rs1800130 | Benign | Synonymous variant | Non classified | Non classified | Not reported |
g.192094C > G | c.3909C > G | p.Asn1303Lys (N1303K) | rs80034486 | Pathogenic | Missense variant | Class II | A group | 2147 |
g.204099A > C | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |
g.129569G > A | c.1680-1G > A | 1812-1G > A | rs121908794 | Pathogenic | Splice acceptor variant | Non classified | Non classified | 31 |
g.206271 G > A | c.4387C > T | p.Gln1463Ter (Q1463*) | rs886044425 | Uncertain | Nonsense variant | Non classified | Non classified | Not reported |
g.206359C > A | – | – | Not reported | Not reported | Not reported | Non classified | Non classified | Not reported |