| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7527563dup | CA10603662 | MCOLN1 | c.615dup (p.Ser206GlnfsTer?) n.695dup n.436dup c.572-301dup (n.572-301dup) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7527563del | CA505230390 | MCOLN1 | c.615del (p.Ser206AlafsTer?) n.695del n.436del c.572-301del (n.572-301del) | dbSNP gnomAD v4 COSMIC |