| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62626633G>A | CA10586211 | GANAB | c.2449C>T (p.Arg817Trp) c.2158C>T (p.Arg720Trp) c.2515C>T (p.Arg839Trp) n.138C>T n.304C>T c.*2181C>T (n.*2181C>T) c.2173C>T (p.Arg725Trp) c.2107C>T (p.Arg703Trp) c.1726C>T (p.Arg576Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.62626633G= | CA1977850378 | GANAB | c.2449C= (p.Arg817=) c.2158C= (p.Arg720=) c.2515C= (p.Arg839=) n.138C= n.304C= c.*2181C= (n.*2181C=) c.2173C= (p.Arg725=) c.2107C= (p.Arg703=) c.1726C= (p.Arg576=) | dbSNP |