| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.88065414dup | CA440268375 | PKD2 | c.2159dup (p.Asn720LysfsTer5) c.413dup (p.Asn138LysfsTer5) n.411dup n.371dup c.1934dup (p.Asn645LysfsTer5) c.1439dup (p.Asn480LysfsTer5) c.1319dup (p.Asn440LysfsTer5) n.2125dup n.2137dup | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.88065414del | CA3004147 | PKD2 | c.2159del (p.Asn720IlefsTer17) c.413del (p.Asn138IlefsTer17) n.411del n.371del c.1934del (p.Asn645IlefsTer17) c.1439del (p.Asn480IlefsTer17) c.1319del (p.Asn440IlefsTer17) n.2125del n.2137del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |