| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143575430G>A | CA4912706 | NAPRT | c.1284C>T (p.Gly428=) c.262C>T n.828C>T c.1203C>T (p.Gly401=) c.600C>T (p.Gly200=) c.1503C>T (p.Gly501=) c.921C>T (p.Gly307=) c.519C>T (p.Gly173=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143575430G>T | CA463512229 | NAPRT | c.1284C>A (p.Gly428=) c.262C>A n.828C>A c.1203C>A (p.Gly401=) c.600C>A (p.Gly200=) c.1503C>A (p.Gly501=) c.921C>A (p.Gly307=) c.519C>A (p.Gly173=) | dbSNP |
| 8 | g.143575430G= | CA1825861451 | NAPRT | c.1284C= (p.Gly428=) c.262C= n.828C= c.1203C= (p.Gly401=) c.600C= (p.Gly200=) c.1503C= (p.Gly501=) c.921C= (p.Gly307=) c.519C= (p.Gly173=) | dbSNP |
| 8 | g.143575430G>C | CA463512231 | NAPRT | c.1284C>G (p.Gly428=) c.262C>G n.828C>G c.1203C>G (p.Gly401=) c.600C>G (p.Gly200=) c.1503C>G (p.Gly501=) c.921C>G (p.Gly307=) c.519C>G (p.Gly173=) | dbSNP |