| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120456651A>T | CA134078 | LAMP2 | c.183T>A (p.Tyr61Ter) | ClinVar dbSNP |
| X | g.120456651A>C | CA134085 | LAMP2 | c.183T>G (p.Tyr61Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.120456651A>G | CA10505343 | LAMP2 | c.183T>C (p.Tyr61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120456651A= | CA2454875464 | LAMP2 | c.183T= (p.Tyr61=) | dbSNP dbSNP |