| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.88065479C>T | CA123160 | PKD2 | c.2224C>T (p.Arg742Ter) c.478C>T (p.Arg160Ter) n.476C>T n.436C>T c.1999C>T (p.Arg667Ter) c.1504C>T (p.Arg502Ter) c.1384C>T (p.Arg462Ter) n.2190C>T n.2202C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.88065479C= | CA1474587986 | PKD2 | c.2224C= (p.Arg742=) c.478C= (p.Arg160=) n.476C= n.436C= c.1999C= (p.Arg667=) c.1504C= (p.Arg502=) c.1384C= (p.Arg462=) n.2190C= n.2202C= | dbSNP |