| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.1484815C>T | CA16043375 | TPO | c.1558C>T (p.His520Tyr) c.1039C>T (p.His347Tyr) c.1345C>T (p.His449Tyr) c.153C>T n.147C>T c.151C>T (p.His51Tyr) n.400C>T n.1559C>T c.1594C>T (p.His532Tyr) c.1075C>T (p.His359Tyr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.1484815C= | CA1233572004 | TPO | c.1558C= (p.His520=) c.1039C= (p.His347=) c.1345C= (p.His449=) c.153C= n.147C= c.151C= (p.His51=) n.400C= n.1559C= c.1594C= (p.His532=) c.1075C= (p.His359=) | dbSNP |