| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2091794A>G | CA16043503 | PKD1,PKD1-AS1 | c.11524T>C (p.Trp3842Arg) c.11521T>C (p.Trp3841Arg) n.513T>C c.6086T>C (n.6086T>C) c.185T>C n.220T>C c.8479T>C (p.Trp2827Arg) c.11602T>C (p.Trp3868Arg) c.11599T>C (p.Trp3867Arg) c.11584T>C (p.Trp3862Arg) c.11578T>C (p.Trp3860Arg) c.11575T>C (p.Trp3859Arg) c.11548T>C (p.Trp3850Arg) c.11530T>C (p.Trp3844Arg) c.11476T>C (p.Trp3826Arg) c.11395T>C (p.Trp3799Arg) c.11338T>C (p.Trp3780Arg) c.9424T>C (p.Trp3142Arg) c.8602T>C (p.Trp2868Arg) n.11617T>C n.11364T>C n.89+180A>G n.179+180A>G n.88+186A>G c.11644T>C (p.Trp3882Arg) c.11572T>C (p.Trp3858Arg) c.11434T>C (p.Trp3812Arg) c.9520T>C (p.Trp3174Arg) | ClinVar dbSNP |
| 16 | g.2091794A= | CA2202018251 | PKD1,PKD1-AS1 | c.11524T= (p.Trp3842=) c.11521T= (p.Trp3841=) n.513T= c.6086T= (n.6086T=) c.185T= n.220T= c.8479T= (p.Trp2827=) c.11602T= (p.Trp3868=) c.11599T= (p.Trp3867=) c.11584T= (p.Trp3862=) c.11578T= (p.Trp3860=) c.11575T= (p.Trp3859=) c.11548T= (p.Trp3850=) c.11530T= (p.Trp3844=) c.11476T= (p.Trp3826=) c.11395T= (p.Trp3799=) c.11338T= (p.Trp3780=) c.9424T= (p.Trp3142=) c.8602T= (p.Trp2868=) n.11617T= n.11364T= n.89+180A= n.179+180A= n.88+186A= c.11644T= (p.Trp3882=) c.11572T= (p.Trp3858=) c.11434T= (p.Trp3812=) c.9520T= (p.Trp3174=) | dbSNP |