| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153870854G>T | CA254955 | L1CAM | c.630C>A (p.His210Gln) c.615C>A (p.His205Gln) | ClinVar dbSNP |
| X | g.153870854G>A | CA220733 | L1CAM | c.630C>T (p.His210=) c.615C>T (p.His205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870854G>C | CA337263752 | L1CAM | c.630C>G (p.His210Gln) c.615C>G (p.His205Gln) | dbSNP |