Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117592631G>ACA326820CFTRc.2464G>A (p.Glu822Lys)
c.*2178G>A (n.*2178G>A)
c.2281G>A (p.Glu761Lys)
c.*764G>A (n.*764G>A)
c.*2288G>A (n.*2288G>A)
c.2038G>A (p.Glu680Lys)
c.55G>A (p.Glu19Lys)
c.114G>A
c.1402-10195G>A (n.1402-10195G>A)
c.2374G>A (p.Glu792Lys)
c.2554G>A (p.Glu852Lys)
c.2221G>A (p.Glu741Lys)
ClinVar dbSNP gnomAD v4 COSMIC
7g.117592631G>TCA328102CFTRc.2464G>T (p.Glu822Ter)
c.*2178G>T (n.*2178G>T)
c.2281G>T (p.Glu761Ter)
c.*764G>T (n.*764G>T)
c.*2288G>T (n.*2288G>T)
c.2038G>T (p.Glu680Ter)
c.55G>T (p.Glu19Ter)
c.114G>T
c.1402-10195G>T (n.1402-10195G>T)
c.2374G>T (p.Glu792Ter)
c.2554G>T (p.Glu852Ter)
c.2221G>T (p.Glu741Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592631G=CA1737395716CFTRc.2464G= (p.Glu822=)
c.*2178G= (n.*2178G=)
c.2281G= (p.Glu761=)
c.*764G= (n.*764G=)
c.*2288G= (n.*2288G=)
c.2038G= (p.Glu680=)
c.55G= (p.Glu19=)
c.114G=
c.1402-10195G= (n.1402-10195G=)
c.2374G= (p.Glu792=)
c.2554G= (p.Glu852=)
c.2221G= (p.Glu741=)
dbSNP

Number of alleles fetched