Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117592631G>TCA328102CFTRc.2464G>T (p.Glu822Ter)
c.2554G>T (p.Glu852Ter)
c.2221G>T (p.Glu741Ter)
n.2374G>T (p.Glu792Ter)
ClinVar dbSNP gnomAD
7g.117592631G>ACA326820CFTRc.2464G>A (p.Glu822Lys)
c.2554G>A (p.Glu852Lys)
c.2221G>A (p.Glu741Lys)
n.2374G>A (p.Glu792Lys)
ClinVar dbSNP COSMIC

Number of alleles fetched