| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2111624A>T | CA10654923 | PKD1 | c.3543T>A (p.Tyr1181Ter) n.310+716T>A n.430+716T>A n.493T>A c.233+192T>A n.790+716T>A c.473-3266T>A n.773+716T>A c.2226+716T>A (n.2226+716T>A) n.421+716T>A c.498T>A (p.Tyr166Ter) c.3621T>A (p.Tyr1207Ter) c.3597T>A (p.Tyr1199Ter) c.3567T>A (p.Tyr1189Ter) c.3549T>A (p.Tyr1183Ter) c.3495T>A (p.Tyr1165Ter) c.3414T>A (p.Tyr1138Ter) c.3357T>A (p.Tyr1119Ter) c.1443T>A (p.Tyr481Ter) c.621T>A (p.Tyr207Ter) n.3636T>A c.3663T>A (p.Tyr1221Ter) c.3591T>A (p.Tyr1197Ter) c.3453T>A (p.Tyr1151Ter) c.1539T>A (p.Tyr513Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2111624A= | CA2202047720 | PKD1 | c.3543T= (p.Tyr1181=) n.310+716T= n.430+716T= n.493T= c.233+192T= n.790+716T= c.473-3266T= n.773+716T= c.2226+716T= (n.2226+716T=) n.421+716T= c.498T= (p.Tyr166=) c.3621T= (p.Tyr1207=) c.3597T= (p.Tyr1199=) c.3567T= (p.Tyr1189=) c.3549T= (p.Tyr1183=) c.3495T= (p.Tyr1165=) c.3414T= (p.Tyr1138=) c.3357T= (p.Tyr1119=) c.1443T= (p.Tyr481=) c.621T= (p.Tyr207=) n.3636T= c.3663T= (p.Tyr1221=) c.3591T= (p.Tyr1197=) c.3453T= (p.Tyr1151=) c.1539T= (p.Tyr513=) | dbSNP |
| 16 | g.2111624A>G | CA493049617 | PKD1 | c.3543T>C (p.Tyr1181=) n.310+716T>C n.430+716T>C n.493T>C c.233+192T>C n.790+716T>C c.473-3266T>C n.773+716T>C c.2226+716T>C (n.2226+716T>C) n.421+716T>C c.498T>C (p.Tyr166=) c.3621T>C (p.Tyr1207=) c.3597T>C (p.Tyr1199=) c.3567T>C (p.Tyr1189=) c.3549T>C (p.Tyr1183=) c.3495T>C (p.Tyr1165=) c.3414T>C (p.Tyr1138=) c.3357T>C (p.Tyr1119=) c.1443T>C (p.Tyr481=) c.621T>C (p.Tyr207=) n.3636T>C c.3663T>C (p.Tyr1221=) c.3591T>C (p.Tyr1197=) c.3453T>C (p.Tyr1151=) c.1539T>C (p.Tyr513=) | dbSNP gnomAD v4 |