| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.124875145G>A | CA6343699 | ROBO3 | c.2108G>A (p.Arg703Gln) c.2042G>A (p.Arg681Gln) c.3080G>A (p.Arg1027Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.124875145G>C | CA115384 | ROBO3 | c.2108G>C (p.Arg703Pro) c.2042G>C (p.Arg681Pro) c.3080G>C (p.Arg1027Pro) | ClinVar dbSNP |
| 11 | g.124875145G>T | CA383146589 | ROBO3 | c.2108G>T (p.Arg703Leu) c.2042G>T (p.Arg681Leu) c.3080G>T (p.Arg1027Leu) | dbSNP gnomAD v4 |
| 11 | g.124875145G= | CA2006417395 | ROBO3 | c.2108G= (p.Arg703=) c.2042G= (p.Arg681=) c.3080G= (p.Arg1027=) | dbSNP |