| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117548798T>C | CA325689 | CFTR,CFTR-AS1 | c.1367T>C (p.Val456Ala) c.*1106+6690T>C (n.*1106+6690T>C) c.1209+6690T>C (n.1209+6690T>C) c.*1191T>C (n.*1191T>C) c.966+6690T>C (n.966+6690T>C) c.1277T>C (p.Val426Ala) c.1457T>C (p.Val486Ala) c.1124T>C (p.Val375Ala) n.222-6259A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117548798T= | CA1737370417 | CFTR,CFTR-AS1 | c.1367T= (p.Val456=) c.*1106+6690T= (n.*1106+6690T=) c.1209+6690T= (n.1209+6690T=) c.*1191T= (n.*1191T=) c.966+6690T= (n.966+6690T=) c.1277T= (p.Val426=) c.1457T= (p.Val486=) c.1124T= (p.Val375=) n.222-6259A= | dbSNP |