| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150388004C>T | CA252946 | TCOF1 | c.2962C>T (p.Arg988Ter) c.2731C>T (p.Arg911Ter) c.2361C>T c.396C>T c.3073C>T (p.Arg1025Ter) n.1762C>T c.343-8739C>T (n.343-8739C>T) c.3070C>T (p.Arg1024Ter) c.2842C>T (p.Arg948Ter) c.2893C>T (p.Arg965Ter) n.3077C>T n.2966C>T c.2782C>T (p.Arg928Ter) n.3079C>T n.2968C>T | ClinVar dbSNP |
| 5 | g.150388004C>G | CA361763714 | TCOF1 | c.2962C>G (p.Arg988Gly) c.2731C>G (p.Arg911Gly) c.2361C>G c.396C>G c.3073C>G (p.Arg1025Gly) n.1762C>G c.343-8739C>G (n.343-8739C>G) c.3070C>G (p.Arg1024Gly) c.2842C>G (p.Arg948Gly) c.2893C>G (p.Arg965Gly) n.3077C>G n.2966C>G c.2782C>G (p.Arg928Gly) n.3079C>G n.2968C>G | dbSNP gnomAD v4 |