| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627712del | CA325524 | CFTR | c.3517+142del (n.3517+142del) c.*3373del (n.*3373del) c.3476del (p.Thr1159LysfsTer8) c.3659del (p.Thr1220LysfsTer8) c.*312del (n.*312del) c.*320del (n.*320del) c.*2034del (n.*2034del) c.3653del (p.Thr1218LysfsTer8) c.*3483del (n.*3483del) c.3233del (p.Thr1078LysfsTer8) c.407del (p.Thr136LysfsTer8) c.1446del (n.1446del) c.241del c.1167+142del c.2441del (p.Thr814LysfsTer8) c.3569del (p.Thr1190LysfsTer8) c.484del c.3749del (p.Thr1250LysfsTer8) c.3416del (p.Thr1139LysfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627712C= | CA1737398705 | CFTR | c.3517+142C= (n.3517+142C=) c.*3373C= (n.*3373C=) c.3476C= (p.Thr1159=) c.3659C= (p.Thr1220=) c.*312C= (n.*312C=) c.*320C= (n.*320C=) c.*2034C= (n.*2034C=) c.3653C= (p.Thr1218=) c.*3483C= (n.*3483C=) c.3233C= (p.Thr1078=) c.407C= (p.Thr136=) c.1446C= (n.1446C=) c.241C= c.1167+142C= c.2441C= (p.Thr814=) c.3569C= (p.Thr1190=) c.484C= c.3749C= (p.Thr1250=) c.3416C= (p.Thr1139=) | dbSNP dbSNP |