Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
XPO1 | ENSG00000082898 | ENST00000401558 | p.E571K | c.1711G>A | Substitution - Missense | |
KDM1A | ENSG00000004487 | ENST00000356634 | p.W531C | c.1593G>T | Substitution - Missense | |
KDM1A | ENSG00000004487 | ENST00000400181 | p.W555C | c.1665G>T | Substitution - Missense | |
ELF4 | ENSG00000102034 | ENST00000335997 | p.R267Q | c.800G>A | Substitution - Missense | |
CCDC87 | ENSG00000182791 | ENST00000333861 | p.L601I | c.1801C>A | Substitution - Missense |