| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117595001T>G | CA132752 | CFTR | c.2562T>G (p.Thr854=) c.*2276T>G (n.*2276T>G) c.2379T>G (p.Thr793=) c.*862T>G (n.*862T>G) c.*2386T>G (n.*2386T>G) c.2136T>G (p.Thr712=) c.153T>G (p.Thr51=) c.212T>G c.1402-7825T>G (n.1402-7825T>G) c.2472T>G (p.Thr824=) c.2652T>G (p.Thr884=) c.2319T>G (p.Thr773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117595001T>A | CA4451227 | CFTR | c.2562T>A (p.Thr854=) c.*2276T>A (n.*2276T>A) c.2379T>A (p.Thr793=) c.*862T>A (n.*862T>A) c.*2386T>A (n.*2386T>A) c.2136T>A (p.Thr712=) c.153T>A (p.Thr51=) c.212T>A c.1402-7825T>A (n.1402-7825T>A) c.2472T>A (p.Thr824=) c.2652T>A (p.Thr884=) c.2319T>A (p.Thr773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |