| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.124872919G>A | CA383142356 | ROBO3 | c.1366G>A (p.Gly456Arg) c.1300G>A (p.Gly434Arg) c.2338G>A (p.Gly780Arg) | dbSNP |
| 11 | g.124872919G>T | CA115386 | ROBO3 | c.1366G>T (p.Gly456Ter) c.1300G>T (p.Gly434Ter) c.2338G>T (p.Gly780Ter) | ClinVar dbSNP |
| 11 | g.124872919G>C | CA383142358 | ROBO3 | c.1366G>C (p.Gly456Arg) c.1300G>C (p.Gly434Arg) c.2338G>C (p.Gly780Arg) | dbSNP gnomAD v4 |
| 11 | g.124872919G= | CA2006416402 | ROBO3 | c.1366G= (p.Gly456=) c.1300G= (p.Gly434=) c.2338G= (p.Gly780=) | dbSNP |