| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52024940G>A | CA334736 | PKHD1 | c.4870C>T (p.Arg1624Trp) c.4228C>T (p.Arg1410Trp) c.4159C>T (p.Arg1387Trp) c.4795C>T (p.Arg1599Trp) c.4606C>T (p.Arg1536Trp) c.3010C>T (p.Arg1004Trp) n.5146C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52024940G= | CA1628646899 | PKHD1 | c.4870C= (p.Arg1624=) c.4228C= (p.Arg1410=) c.4159C= (p.Arg1387=) c.4795C= (p.Arg1599=) c.4606C= (p.Arg1536=) c.3010C= (p.Arg1004=) n.5146C= | dbSNP |
| 6 | g.52024940G>C | CA364430923 | PKHD1 | c.4870C>G (p.Arg1624Gly) c.4228C>G (p.Arg1410Gly) c.4159C>G (p.Arg1387Gly) c.4795C>G (p.Arg1599Gly) c.4606C>G (p.Arg1536Gly) c.3010C>G (p.Arg1004Gly) n.5146C>G | dbSNP gnomAD v4 |
| 6 | g.52024940G>T | CA450613967 | PKHD1 | c.4870C>A (p.Arg1624=) c.4228C>A (p.Arg1410=) c.4159C>A (p.Arg1387=) c.4795C>A (p.Arg1599=) c.4606C>A (p.Arg1536=) c.3010C>A (p.Arg1004=) n.5146C>A | ClinVar dbSNP |