| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52062655G>A | CA224114 | PKHD1 | c.982C>T (p.Arg328Ter) c.271C>T (p.Arg91Ter) c.907C>T (p.Arg303Ter) n.1258C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52062655G= | CA1628612261 | PKHD1 | c.982C= (p.Arg328=) c.271C= (p.Arg91=) c.907C= (p.Arg303=) n.1258C= | dbSNP |
| 6 | g.52062655G>C | CA364428970 | PKHD1 | c.982C>G (p.Arg328Gly) c.271C>G (p.Arg91Gly) c.907C>G (p.Arg303Gly) n.1258C>G | dbSNP gnomAD v4 |
| 6 | g.52062655G>T | CA450420993 | PKHD1 | c.982C>A (p.Arg328=) c.271C>A (p.Arg91=) c.907C>A (p.Arg303=) n.1258C>A | ClinVar dbSNP |