| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97573863C>G | CA341378840 | DPYD | c.1236G>C (p.Glu412Asp) c.1125G>C (p.Glu375Asp) c.741G>C (p.Glu247Asp) | dbSNP |
| 1 | g.97573863C>T | CA228138 | DPYD | c.1236G>A (p.Glu412=) c.1125G>A (p.Glu375=) c.741G>A (p.Glu247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97573863C= | CA1140631115 | DPYD | c.1236G= (p.Glu412=) c.1125G= (p.Glu375=) c.741G= (p.Glu247=) | dbSNP |
| 1 | g.97573863C>A | CA341378839 | DPYD | c.1236G>T (p.Glu412Asp) c.1125G>T (p.Glu375Asp) c.741G>T (p.Glu247Asp) | dbSNP gnomAD v4 |