| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.244863797G>A | CA16609280 | HNRNPU | c.189C>T c.511C>T (p.Gln171Ter) n.696C>T c.295C>T (p.Gln99Ter) n.742C>T c.211C>T (p.Gln71Ter) n.735C>T n.695C>T | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.244863797G>C | CA345496770 | HNRNPU | c.189C>G c.511C>G (p.Gln171Glu) n.696C>G c.295C>G (p.Gln99Glu) n.742C>G c.211C>G (p.Gln71Glu) n.735C>G n.695C>G | dbSNP gnomAD v4 |