| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.55228693C>T | CA7573629 | RAB27A | n.2295G>A c.259G>A (p.Ala87Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.55228693C>G | CA117898 | RAB27A | n.2295G>C c.259G>C (p.Ala87Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.55228693C= | CA2178722971 | RAB27A | n.2295G= c.259G= (p.Ala87=) | dbSNP |
| 15 | g.55228693C>A | CA392530512 | RAB27A | n.2295G>T c.259G>T (p.Ala87Ser) | ClinVar dbSNP |