| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51847871G>A | CA253011 | PKHD1 | c.8011C>T (p.Arg2671Ter) c.7369C>T (p.Arg2457Ter) c.7300C>T (p.Arg2434Ter) c.2086C>T (p.Arg696Ter) c.7936C>T (p.Arg2646Ter) c.7747C>T (p.Arg2583Ter) c.6151C>T (p.Arg2051Ter) n.8287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51847871G>T | CA450415846 | PKHD1 | c.8011C>A (p.Arg2671=) c.7369C>A (p.Arg2457=) c.7300C>A (p.Arg2434=) c.2086C>A (p.Arg696=) c.7936C>A (p.Arg2646=) c.7747C>A (p.Arg2583=) c.6151C>A (p.Arg2051=) n.8287C>A | ClinVar dbSNP gnomAD v4 |