| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.55224004G>T | CA392529915 | RAB27A | n.2388C>A c.352C>A (p.Gln118Lys) n.2520C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.55224004G>A | CA117895 | RAB27A | n.2388C>T c.352C>T (p.Gln118Ter) n.2520C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.55224004G= | CA2178720833 | RAB27A | n.2388C= c.352C= (p.Gln118=) n.2520C= | dbSNP |