| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153866831T>C | CA415120699 | L1CAM | c.2249A>G (p.Tyr750Cys) c.2234A>G (p.Tyr745Cys) c.511A>G | ClinVar dbSNP |
| X | g.153866831T>G | CA16621230 | L1CAM | c.2249A>C (p.Tyr750Ser) c.2234A>C (p.Tyr745Ser) c.511A>C | ClinVar dbSNP |