| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.131144705C>A | CA375274360 | NUP214 | n.2764C>A n.1852C>A c.1720C>A (p.Pro574Thr) c.1389C>A c.7C>A (p.Pro3Thr) n.4C>A c.446C>A c.1843C>A (p.Pro615Thr) c.1555C>A (p.Pro519Thr) | dbSNP |
| 9 | g.131144705C>T | CA5289084 | NUP214 | n.2764C>T n.1852C>T c.1720C>T (p.Pro574Ser) c.1389C>T c.7C>T (p.Pro3Ser) n.4C>T c.446C>T c.1843C>T (p.Pro615Ser) c.1555C>T (p.Pro519Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |