Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117535281C>ACA368976821CFTRc.613C>A (p.Pro205Thr)
c.*510C>A (n.*510C>A)
c.*437C>A (n.*437C>A)
c.370C>A (p.Pro124Thr)
c.523C>A (p.Pro175Thr)
c.703C>A (p.Pro235Thr)
ClinVar dbSNP gnomAD v4
7g.117535281C>TCA328130CFTRc.613C>T (p.Pro205Ser)
c.*510C>T (n.*510C>T)
c.*437C>T (n.*437C>T)
c.370C>T (p.Pro124Ser)
c.523C>T (p.Pro175Ser)
c.703C>T (p.Pro235Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched