| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169468793C>T | CA253661 | SLC19A2 | c.1074G>A (p.Trp358Ter) n.405G>A c.1031-56G>A (n.1031-56G>A) c.471G>A (p.Trp157Ter) c.882G>A (p.Trp294Ter) | ClinVar dbSNP |
| 1 | g.169468793C= | CA1140886887 | SLC19A2 | c.1074G= (p.Trp358=) n.405G= c.1031-56G= (n.1031-56G=) c.471G= (p.Trp157=) c.882G= (p.Trp294=) | dbSNP |