| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.1494027G>C | CA345697143 | TPO | c.1994G>C (p.Arg665Pro) c.1475G>C (p.Arg492Pro) c.1823G>C (p.Arg608Pro) c.1781G>C (p.Arg594Pro) c.418G>C n.412G>C c.416G>C (p.Arg139Pro) n.665G>C n.1995G>C c.2030G>C (p.Arg677Pro) c.1859G>C (p.Arg620Pro) c.1511G>C (p.Arg504Pro) | dbSNP gnomAD v2 |
| 2 | g.1494027G>A | CA1511904 | TPO | c.1994G>A (p.Arg665Gln) c.1475G>A (p.Arg492Gln) c.1823G>A (p.Arg608Gln) c.1781G>A (p.Arg594Gln) c.418G>A n.412G>A c.416G>A (p.Arg139Gln) n.665G>A n.1995G>A c.2030G>A (p.Arg677Gln) c.1859G>A (p.Arg620Gln) c.1511G>A (p.Arg504Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |