| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025223dup | CA16041053 | PKHD1 | c.4593dup (p.Asn1532Ter) c.4102-151dup (n.4102-151dup) c.3882dup (p.Asn1295Ter) c.4518dup (p.Asn1507Ter) c.4329dup (p.Asn1444Ter) c.2733dup (p.Asn912Ter) n.4869dup | ClinVar dbSNP gnomAD v4 |
| 6 | g.52025223del | CA450614353 | PKHD1 | c.4593del (p.Phe1531LeufsTer?) c.4102-151del (n.4102-151del) c.3882del (p.Phe1294LeufsTer?) c.4518del (p.Phe1506LeufsTer?) c.4329del (p.Phe1443LeufsTer?) c.2733del (p.Phe911LeufsTer?) n.4869del | ClinVar dbSNP COSMIC COSMIC |