| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120442599C>A | CA414400262 | LAMP2 | c.928G>T (p.Val310Phe) c.471G>T | ClinVar dbSNP |
| X | g.120442599C>T | CA120868 | LAMP2 | c.928G>A (p.Val310Ile) c.471G>A | ClinVar dbSNP |
| X | g.120442599C>G | CA414400263 | LAMP2 | c.928G>C (p.Val310Leu) c.471G>C | ClinVar dbSNP |