| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.1493976G>A | CA116633 | TPO | c.1943G>A (p.Arg648Gln) c.1424G>A (p.Arg475Gln) c.1772G>A (p.Arg591Gln) c.1730G>A (p.Arg577Gln) c.367G>A n.361G>A c.365G>A (p.Arg122Gln) n.614G>A n.1944G>A c.1979G>A (p.Arg660Gln) c.1808G>A (p.Arg603Gln) c.1460G>A (p.Arg487Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.1493976G= | CA1233576823 | TPO | c.1943G= (p.Arg648=) c.1424G= (p.Arg475=) c.1772G= (p.Arg591=) c.1730G= (p.Arg577=) c.367G= n.361G= c.365G= (p.Arg122=) n.614G= n.1944G= c.1979G= (p.Arg660=) c.1808G= (p.Arg603=) c.1460G= (p.Arg487=) | dbSNP |