| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23022189C>T | CA16620666 | RBBP8 | c.2515C>T (p.Arg839Ter) c.2530C>T (p.Arg844Ter) c.2418C>T (p.Thr806=) c.49C>T (p.Arg17Ter) c.789C>T (p.Thr263=) c.2445C>T (p.Thr815=) c.1693C>T (p.Arg565Ter) c.1623C>T (p.Thr541=) c.2221C>T (p.Arg741Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23022189C= | CA2289929479 | RBBP8 | c.2515C= (p.Arg839=) c.2530C= (p.Arg844=) c.2418C= (p.Thr806=) c.49C= (p.Arg17=) c.789C= (p.Thr263=) c.2445C= (p.Thr815=) c.1693C= (p.Arg565=) c.1623C= (p.Thr541=) c.2221C= (p.Arg741=) | dbSNP |