Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117542016G>ACA273032CFTRc.1117G>A (p.Asp373Asn)
c.*1014G>A (n.*1014G>A)
c.*941G>A (n.*941G>A)
c.874G>A (p.Asp292Asn)
c.1027G>A (p.Asp343Asn)
c.1207G>A (p.Asp403Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117542016G>TCA368979766CFTRc.1117G>T (p.Asp373Tyr)
c.*1014G>T (n.*1014G>T)
c.*941G>T (n.*941G>T)
c.874G>T (p.Asp292Tyr)
c.1027G>T (p.Asp343Tyr)
c.1207G>T (p.Asp403Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched