| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117642464del | CA325611 | CFTR | c.3544del (p.Arg1182GlyfsTer?) c.*3458del (n.*3458del) c.3561del (p.Lys1189ArgfsTer9) c.3744del (p.Lys1250ArgfsTer9) c.*397del (n.*397del) c.*405del (n.*405del) c.*2119del (n.*2119del) c.3738del (p.Lys1248ArgfsTer9) c.*3568del (n.*3568del) c.3318del (p.Lys1108ArgfsTer9) c.492del (p.Lys166ArgfsTer9) c.1531del (n.1531del) c.326del c.1194del c.3654del (p.Lys1220ArgfsTer9) c.3834del (p.Lys1280ArgfsTer9) c.3501del (p.Lys1169ArgfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642464A= | CA1737404741 | CFTR | c.3544A= (p.Arg1182=) c.*3458A= (n.*3458A=) c.3561A= (p.Ser1187=) c.3744A= (p.Ser1248=) c.*397A= (n.*397A=) c.*405A= (n.*405A=) c.*2119A= (n.*2119A=) c.3738A= (p.Ser1246=) c.*3568A= (n.*3568A=) c.3318A= (p.Ser1106=) c.492A= (p.Ser164=) c.1531A= (n.1531A=) c.326A= c.1194A= c.3654A= (p.Ser1218=) c.3834A= (p.Ser1278=) c.3501A= (p.Ser1167=) | dbSNP dbSNP |