| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603699del | CA326937 | CFTR | c.2825del (p.Ile942ThrfsTer26) c.*2539del (n.*2539del) c.2642del (p.Ile881ThrfsTer26) c.*1125del (n.*1125del) c.*2649del (n.*2649del) c.2399del (p.Ile800ThrfsTer26) c.416del (p.Ile139ThrfsTer26) c.475del c.1607del (p.Ile536ThrfsTer26) c.2735del (p.Ile912ThrfsTer26) c.2915del (p.Ile972ThrfsTer26) c.2582del (p.Ile861ThrfsTer26) | ClinVar dbSNP |
| 7 | g.117603699T= | CA3146045897 | CFTR | c.2825T= (p.Ile942=) c.*2539T= (n.*2539T=) c.2642T= (p.Ile881=) c.*1125T= (n.*1125T=) c.*2649T= (n.*2649T=) c.2399T= (p.Ile800=) c.416T= (p.Ile139=) c.475T= c.1607T= (p.Ile536=) c.2735T= (p.Ile912=) c.2915T= (p.Ile972=) c.2582T= (p.Ile861=) | dbSNP |