| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.1494011C>G | CA116635 | TPO | c.1978C>G (p.Gln660Glu) c.1459C>G (p.Gln487Glu) c.1807C>G (p.Gln603Glu) c.1765C>G (p.Gln589Glu) c.402C>G n.396C>G c.400C>G (p.Gln134Glu) n.649C>G n.1979C>G c.2014C>G (p.Gln672Glu) c.1843C>G (p.Gln615Glu) c.1495C>G (p.Gln499Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.1494011C>T | CA345697111 | TPO | c.1978C>T (p.Gln660Ter) c.1459C>T (p.Gln487Ter) c.1807C>T (p.Gln603Ter) c.1765C>T (p.Gln589Ter) c.402C>T n.396C>T c.400C>T (p.Gln134Ter) n.649C>T n.1979C>T c.2014C>T (p.Gln672Ter) c.1843C>T (p.Gln615Ter) c.1495C>T (p.Gln499Ter) | dbSNP gnomAD v2 |
| 2 | g.1494011C= | CA1233576843 | TPO | c.1978C= (p.Gln660=) c.1459C= (p.Gln487=) c.1807C= (p.Gln603=) c.1765C= (p.Gln589=) c.402C= n.396C= c.400C= (p.Gln134=) n.649C= n.1979C= c.2014C= (p.Gln672=) c.1843C= (p.Gln615=) c.1495C= (p.Gln499=) | dbSNP |