| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2089956C>G | CA16621682 | PKD1 | c.12683G>C (p.Arg4228Pro) c.12680G>C (p.Arg4227Pro) n.711G>C c.9638G>C (p.Arg3213Pro) c.12761G>C (p.Arg4254Pro) c.12758G>C (p.Arg4253Pro) c.12743G>C (p.Arg4248Pro) c.12737G>C (p.Arg4246Pro) c.12734G>C (p.Arg4245Pro) c.12707G>C (p.Arg4236Pro) c.12689G>C (p.Arg4230Pro) c.12635G>C (p.Arg4212Pro) c.12554G>C (p.Arg4185Pro) c.12497G>C (p.Arg4166Pro) c.10583G>C (p.Arg3528Pro) c.9761G>C (p.Arg3254Pro) n.12601G>C c.12803G>C (p.Arg4268Pro) c.12731G>C (p.Arg4244Pro) c.12593G>C (p.Arg4198Pro) c.10679G>C (p.Arg3560Pro) | ClinVar dbSNP |
| 16 | g.2089956C>T | CA394320919 | PKD1 | c.12683G>A (p.Arg4228Gln) c.12680G>A (p.Arg4227Gln) n.711G>A c.9638G>A (p.Arg3213Gln) c.12761G>A (p.Arg4254Gln) c.12758G>A (p.Arg4253Gln) c.12743G>A (p.Arg4248Gln) c.12737G>A (p.Arg4246Gln) c.12734G>A (p.Arg4245Gln) c.12707G>A (p.Arg4236Gln) c.12689G>A (p.Arg4230Gln) c.12635G>A (p.Arg4212Gln) c.12554G>A (p.Arg4185Gln) c.12497G>A (p.Arg4166Gln) c.10583G>A (p.Arg3528Gln) c.9761G>A (p.Arg3254Gln) n.12601G>A c.12803G>A (p.Arg4268Gln) c.12731G>A (p.Arg4244Gln) c.12593G>A (p.Arg4198Gln) c.10679G>A (p.Arg3560Gln) | dbSNP gnomAD v2 gnomAD v4 |