| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89280752G>C | CA10603349 | ANKRD11 | c.5790C>G (p.Tyr1930Ter) c.*5593C>G (n.*5593C>G) c.745-5561C>G (n.745-5561C>G) c.152-5561C>G c.5688C>G (p.Tyr1896Ter) c.5493C>G (p.Tyr1831Ter) c.5661C>G (p.Tyr1887Ter) | ClinVar dbSNP |
| 16 | g.89280752G= | CA2241587654 | ANKRD11 | c.5790C= (p.Tyr1930=) c.*5593C= (n.*5593C=) c.745-5561C= (n.745-5561C=) c.152-5561C= c.5688C= (p.Tyr1896=) c.5493C= (p.Tyr1831=) c.5661C= (p.Tyr1887=) | dbSNP |
| 16 | g.89280752G>A | CA497373469 | ANKRD11 | c.5790C>T (p.Tyr1930=) c.*5593C>T (n.*5593C>T) c.745-5561C>T (n.745-5561C>T) c.152-5561C>T c.5688C>T (p.Tyr1896=) c.5493C>T (p.Tyr1831=) c.5661C>T (p.Tyr1887=) | dbSNP gnomAD v4 |