| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128398431C>T | CA257377 | IMPDH1 | c.949G>A (p.Val317Ile) n.932G>A c.1057G>A (p.Val353Ile) c.689G>A c.1027G>A (p.Val343Ile) c.958G>A (p.Val320Ile) c.822G>A c.799G>A (p.Val267Ile) c.787G>A (p.Val263Ile) c.932G>A (n.932G>A) c.727G>A (p.Val243Ile) c.850G>A (p.Val284Ile) c.802G>A (p.Val268Ile) c.826G>A (p.Val276Ile) c.439G>A (p.Val147Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.128398431C= | CA1742366465 | IMPDH1 | c.949G= (p.Val317=) n.932G= c.1057G= (p.Val353=) c.689G= c.1027G= (p.Val343=) c.958G= (p.Val320=) c.822G= c.799G= (p.Val267=) c.787G= (p.Val263=) c.932G= (n.932G=) c.727G= (p.Val243=) c.850G= (p.Val284=) c.802G= (p.Val268=) c.826G= (p.Val276=) c.439G= (p.Val147=) | dbSNP |