| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50527612C>T | CA126784 | TYMP | c.622G>A (p.Val208Met) c.106G>A (p.Val36Met) n.741G>A c.333G>A (n.333G>A) c.78G>A c.523G>A (p.Val175Met) n.747G>A n.909G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50527612C= | CA2410908681 | TYMP | c.622G= (p.Val208=) c.106G= (p.Val36=) n.741G= c.333G= (n.333G=) c.78G= c.523G= (p.Val175=) n.747G= n.909G= | dbSNP |
| 22 | g.50527612C>A | CA412201094 | TYMP | c.622G>T (p.Val208Leu) c.106G>T (p.Val36Leu) n.741G>T c.333G>T (n.333G>T) c.78G>T c.523G>T (p.Val175Leu) n.747G>T n.909G>T | dbSNP gnomAD v4 |
| 22 | g.50527612C>G | CA412201096 | TYMP | c.622G>C (p.Val208Leu) c.106G>C (p.Val36Leu) n.741G>C c.333G>C (n.333G>C) c.78G>C c.523G>C (p.Val175Leu) n.747G>C n.909G>C | dbSNP |