| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46363699C>T | CA236169 | PCNT | c.*870C>T (n.*870C>T) n.2460C>T c.2374C>T (p.Arg792Ter) c.*1617C>T (n.*1617C>T) n.2643C>T c.2020C>T (p.Arg674Ter) c.2455C>T (p.Arg819Ter) c.1258C>T (p.Arg420Ter) c.154C>T (p.Arg52Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.46363699C= | CA2392638079 | PCNT | c.*870C= (n.*870C=) n.2460C= c.2374C= (p.Arg792=) c.*1617C= (n.*1617C=) n.2643C= c.2020C= (p.Arg674=) c.2455C= (p.Arg819=) c.1258C= (p.Arg420=) c.154C= (p.Arg52=) | dbSNP |
| 21 | g.46363699C>G | CA410567778 | PCNT | c.*870C>G (n.*870C>G) n.2460C>G c.2374C>G (p.Arg792Gly) c.*1617C>G (n.*1617C>G) n.2643C>G c.2020C>G (p.Arg674Gly) c.2455C>G (p.Arg819Gly) c.1258C>G (p.Arg420Gly) c.154C>G (p.Arg52Gly) | dbSNP gnomAD v4 |