| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2090468A>T | CA119373 | PKD1 | c.12261T>A (p.Cys4087Ter) c.12258T>A (p.Cys4086Ter) n.289T>A c.9216T>A (p.Cys3072Ter) c.12339T>A (p.Cys4113Ter) c.12336T>A (p.Cys4112Ter) c.12321T>A (p.Cys4107Ter) c.12315T>A (p.Cys4105Ter) c.12312T>A (p.Cys4104Ter) c.12285T>A (p.Cys4095Ter) c.12267T>A (p.Cys4089Ter) c.12213T>A (p.Cys4071Ter) c.12132T>A (p.Cys4044Ter) c.12075T>A (p.Cys4025Ter) c.10161T>A (p.Cys3387Ter) c.9339T>A (p.Cys3113Ter) n.12179T>A c.12381T>A (p.Cys4127Ter) c.12309T>A (p.Cys4103Ter) c.12171T>A (p.Cys4057Ter) c.10257T>A (p.Cys3419Ter) | ClinVar dbSNP |
| 16 | g.2090468A= | CA2202041845 | PKD1 | c.12261T= (p.Cys4087=) c.12258T= (p.Cys4086=) n.289T= c.9216T= (p.Cys3072=) c.12339T= (p.Cys4113=) c.12336T= (p.Cys4112=) c.12321T= (p.Cys4107=) c.12315T= (p.Cys4105=) c.12312T= (p.Cys4104=) c.12285T= (p.Cys4095=) c.12267T= (p.Cys4089=) c.12213T= (p.Cys4071=) c.12132T= (p.Cys4044=) c.12075T= (p.Cys4025=) c.10161T= (p.Cys3387=) c.9339T= (p.Cys3113=) n.12179T= c.12381T= (p.Cys4127=) c.12309T= (p.Cys4103=) c.12171T= (p.Cys4057=) c.10257T= (p.Cys3419=) | dbSNP |