| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.37219522A>C | CA5472299 | ANKRD30A | c.543A>C (p.Ala181=) c.3810A>C (p.Ala1270=) c.4167A>C (p.Ala1389=) c.3642A>C (p.Ala1214=) c.3999A>C (p.Ala1333=) c.4251A>C (p.Ala1417=) n.4297A>C c.*488A>C (n.*488A>C) c.1971A>C (p.Ala657=) n.4285A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.37219522A>T | CA468969779 | ANKRD30A | c.543A>T (p.Ala181=) c.3810A>T (p.Ala1270=) c.4167A>T (p.Ala1389=) c.3642A>T (p.Ala1214=) c.3999A>T (p.Ala1333=) c.4251A>T (p.Ala1417=) n.4297A>T c.*488A>T (n.*488A>T) c.1971A>T (p.Ala657=) n.4285A>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.37219522A>G | CA468969776 | ANKRD30A | c.543A>G (p.Ala181=) c.3810A>G (p.Ala1270=) c.4167A>G (p.Ala1389=) c.3642A>G (p.Ala1214=) c.3999A>G (p.Ala1333=) c.4251A>G (p.Ala1417=) n.4297A>G c.*488A>G (n.*488A>G) c.1971A>G (p.Ala657=) n.4285A>G | dbSNP gnomAD v3 gnomAD v4 |