| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2114807C>T | CA7833257 | PKD1 | c.2216G>A (p.Arg739Gln) c.472+2682G>A c.1147G>A (n.1147G>A) c.2270G>A (p.Arg757Gln) c.2198G>A (p.Arg733Gln) c.2144G>A (p.Arg715Gln) c.2063G>A (p.Arg688Gln) c.2006G>A (p.Arg669Gln) c.92G>A (p.Arg31Gln) n.2285G>A c.-834G>A (n.-834G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2114807C>G | CA394388654 | PKD1 | c.2216G>C (p.Arg739Pro) c.472+2682G>C c.1147G>C (n.1147G>C) c.2270G>C (p.Arg757Pro) c.2198G>C (p.Arg733Pro) c.2144G>C (p.Arg715Pro) c.2063G>C (p.Arg688Pro) c.2006G>C (p.Arg669Pro) c.92G>C (p.Arg31Pro) n.2285G>C c.-834G>C (n.-834G>C) | dbSNP gnomAD v3 gnomAD v4 |