| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2111382T>C | CA16043508 | PKD1 | c.3785A>G (p.His1262Arg) n.310+958A>G n.430+958A>G c.233+434A>G n.790+958A>G c.473-3024A>G n.773+958A>G c.2226+958A>G (n.2226+958A>G) n.421+958A>G c.740A>G (p.His247Arg) c.3863A>G (p.His1288Arg) c.3839A>G (p.His1280Arg) c.3809A>G (p.His1270Arg) c.3791A>G (p.His1264Arg) c.3737A>G (p.His1246Arg) c.3656A>G (p.His1219Arg) c.3599A>G (p.His1200Arg) c.1685A>G (p.His562Arg) c.863A>G (p.His288Arg) n.3878A>G c.3905A>G (p.His1302Arg) c.3833A>G (p.His1278Arg) c.3695A>G (p.His1232Arg) c.1781A>G (p.His594Arg) | ClinVar dbSNP |
| 16 | g.2111382T= | CA2202047554 | PKD1 | c.3785A= (p.His1262=) n.310+958A= n.430+958A= c.233+434A= n.790+958A= c.473-3024A= n.773+958A= c.2226+958A= (n.2226+958A=) n.421+958A= c.740A= (p.His247=) c.3863A= (p.His1288=) c.3839A= (p.His1280=) c.3809A= (p.His1270=) c.3791A= (p.His1264=) c.3737A= (p.His1246=) c.3656A= (p.His1219=) c.3599A= (p.His1200=) c.1685A= (p.His562=) c.863A= (p.His288=) n.3878A= c.3905A= (p.His1302=) c.3833A= (p.His1278=) c.3695A= (p.His1232=) c.1781A= (p.His594=) | dbSNP |