| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2089957G>T | CA493044688 | PKD1 | c.12682C>A (p.Arg4228=) c.12679C>A (p.Arg4227=) n.710C>A c.9637C>A (p.Arg3213=) c.12760C>A (p.Arg4254=) c.12757C>A (p.Arg4253=) c.12742C>A (p.Arg4248=) c.12736C>A (p.Arg4246=) c.12733C>A (p.Arg4245=) c.12706C>A (p.Arg4236=) c.12688C>A (p.Arg4230=) c.12634C>A (p.Arg4212=) c.12553C>A (p.Arg4185=) c.12496C>A (p.Arg4166=) c.10582C>A (p.Arg3528=) c.9760C>A (p.Arg3254=) n.12600C>A c.12802C>A (p.Arg4268=) c.12730C>A (p.Arg4244=) c.12592C>A (p.Arg4198=) c.10678C>A (p.Arg3560=) | dbSNP |
| 16 | g.2089957G>C | CA276763135 | PKD1 | c.12682C>G (p.Arg4228Gly) c.12679C>G (p.Arg4227Gly) n.710C>G c.9637C>G (p.Arg3213Gly) c.12760C>G (p.Arg4254Gly) c.12757C>G (p.Arg4253Gly) c.12742C>G (p.Arg4248Gly) c.12736C>G (p.Arg4246Gly) c.12733C>G (p.Arg4245Gly) c.12706C>G (p.Arg4236Gly) c.12688C>G (p.Arg4230Gly) c.12634C>G (p.Arg4212Gly) c.12553C>G (p.Arg4185Gly) c.12496C>G (p.Arg4166Gly) c.10582C>G (p.Arg3528Gly) c.9760C>G (p.Arg3254Gly) n.12600C>G c.12802C>G (p.Arg4268Gly) c.12730C>G (p.Arg4244Gly) c.12592C>G (p.Arg4198Gly) c.10678C>G (p.Arg3560Gly) | dbSNP gnomAD v4 |
| 16 | g.2089957G>A | CA119367 | PKD1 | c.12682C>T (p.Arg4228Ter) c.12679C>T (p.Arg4227Ter) n.710C>T c.9637C>T (p.Arg3213Ter) c.12760C>T (p.Arg4254Ter) c.12757C>T (p.Arg4253Ter) c.12742C>T (p.Arg4248Ter) c.12736C>T (p.Arg4246Ter) c.12733C>T (p.Arg4245Ter) c.12706C>T (p.Arg4236Ter) c.12688C>T (p.Arg4230Ter) c.12634C>T (p.Arg4212Ter) c.12553C>T (p.Arg4185Ter) c.12496C>T (p.Arg4166Ter) c.10582C>T (p.Arg3528Ter) c.9760C>T (p.Arg3254Ter) n.12600C>T c.12802C>T (p.Arg4268Ter) c.12730C>T (p.Arg4244Ter) c.12592C>T (p.Arg4198Ter) c.10678C>T (p.Arg3560Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |