| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2116916C>A | CA16042982 | PKD1 | c.1523G>T (p.Cys508Phe) c.472+573G>T c.454G>T (p.Ala152Ser) n.519-272G>T c.1577G>T (p.Cys526Phe) c.1505G>T (p.Cys502Phe) c.1451G>T (p.Cys484Phe) c.1370G>T (p.Cys457Phe) c.1313G>T (p.Cys438Phe) n.1592G>T | ClinVar dbSNP |
| 16 | g.2116916C= | CA2202051352 | PKD1 | c.1523G= (p.Cys508=) c.472+573G= c.454G= (p.Ala152=) n.519-272G= c.1577G= (p.Cys526=) c.1505G= (p.Cys502=) c.1451G= (p.Cys484=) c.1370G= (p.Cys457=) c.1313G= (p.Cys438=) n.1592G= | dbSNP |