| 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 |
| 16 | g.2089956C>A | CA394320918 | PKD1 | c.12683G>T (p.Arg4228Leu) c.12680G>T (p.Arg4227Leu) n.711G>T c.9638G>T (p.Arg3213Leu) c.12761G>T (p.Arg4254Leu) c.12758G>T (p.Arg4253Leu) c.12743G>T (p.Arg4248Leu) c.12737G>T (p.Arg4246Leu) c.12734G>T (p.Arg4245Leu) c.12707G>T (p.Arg4236Leu) c.12689G>T (p.Arg4230Leu) c.12635G>T (p.Arg4212Leu) c.12554G>T (p.Arg4185Leu) c.12497G>T (p.Arg4166Leu) c.10583G>T (p.Arg3528Leu) c.9761G>T (p.Arg3254Leu) n.12601G>T c.12803G>T (p.Arg4268Leu) c.12731G>T (p.Arg4244Leu) c.12593G>T (p.Arg4198Leu) c.10679G>T (p.Arg3560Leu) | ClinVar dbSNP |
| 16 | g.2089956C= | CA2202040324 | PKD1 | c.12683G= (p.Arg4228=) c.12680G= (p.Arg4227=) n.711G= c.9638G= (p.Arg3213=) c.12761G= (p.Arg4254=) c.12758G= (p.Arg4253=) c.12743G= (p.Arg4248=) c.12737G= (p.Arg4246=) c.12734G= (p.Arg4245=) c.12707G= (p.Arg4236=) c.12689G= (p.Arg4230=) c.12635G= (p.Arg4212=) c.12554G= (p.Arg4185=) c.12497G= (p.Arg4166=) c.10583G= (p.Arg3528=) c.9761G= (p.Arg3254=) n.12601G= c.12803G= (p.Arg4268=) c.12731G= (p.Arg4244=) c.12593G= (p.Arg4198=) c.10679G= (p.Arg3560=) | dbSNP |