| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535281C>A | CA368976821 | CFTR | c.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 |
| 7 | g.117535281C>T | CA328130 | CFTR | c.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 |
| 7 | g.117535281C= | CA1737362128 | CFTR | c.613C= (p.Pro205=) c.*510C= (n.*510C=) c.*437C= (n.*437C=) c.370C= (p.Pro124=) c.523C= (p.Pro175=) c.703C= (p.Pro235=) | dbSNP |