| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627712C>T | CA254115 | CFTR | c.3517+142C>T (n.3517+142C>T) c.*3373C>T (n.*3373C>T) c.3476C>T (p.Thr1159Ile) c.3659C>T (p.Thr1220Ile) c.*312C>T (n.*312C>T) c.*320C>T (n.*320C>T) c.*2034C>T (n.*2034C>T) c.3653C>T (p.Thr1218Ile) c.*3483C>T (n.*3483C>T) c.3233C>T (p.Thr1078Ile) c.407C>T (p.Thr136Ile) c.1446C>T (n.1446C>T) c.241C>T c.1167+142C>T c.2441C>T (p.Thr814Ile) c.3569C>T (p.Thr1190Ile) c.484C>T c.3749C>T (p.Thr1250Ile) c.3416C>T (p.Thr1139Ile) | ClinVar dbSNP ExAC 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 |