| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.124870035C>A | CA230387245 | ROBO3 | c.733C>A (p.Arg245=) c.667C>A (p.Arg223=) c.1705C>A (p.Arg569=) | dbSNP gnomAD v4 |
| 11 | g.124870035C>G | CA6343257 | ROBO3 | c.733C>G (p.Arg245Gly) c.667C>G (p.Arg223Gly) c.1705C>G (p.Arg569Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.124870035C>T | CA115391 | ROBO3 | c.733C>T (p.Arg245Trp) c.667C>T (p.Arg223Trp) c.1705C>T (p.Arg569Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |