| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50527716A>C | CA16616781 | TYMP | c.518T>G (p.Met173Arg) c.2T>G (p.Met1Arg) n.637T>G c.229T>G (p.Cys77Gly) c.419T>G (p.Met140Arg) n.643T>G n.805T>G | ClinVar dbSNP |
| 22 | g.50527716A>G | CA412201527 | TYMP | c.518T>C (p.Met173Thr) c.2T>C (p.Met1Thr) n.637T>C c.229T>C (p.Cys77Arg) c.419T>C (p.Met140Thr) n.643T>C n.805T>C | dbSNP gnomAD v4 |
| 22 | g.50527716A= | CA2410908738 | TYMP | c.518T= (p.Met173=) c.2T= (p.Met1=) n.637T= c.229T= (p.Cys77=) c.419T= (p.Met140=) n.643T= n.805T= | dbSNP dbSNP |