| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16025202dup | CA1440897153 | PROM1 | c.622dup (p.Thr208AsnfsTer?) c.*305dup (n.*305dup) c.595dup (p.Thr199AsnfsTer?) n.358dup c.680dup c.388dup (p.Thr130AsnfsTer?) c.415dup (p.Thr139AsnfsTer?) c.349dup (p.Thr117AsnfsTer?) | dbSNP |
| 4 | g.16025202del | CA2867033 | PROM1 | c.622del (p.Thr208LeufsTer23) c.*305del (n.*305del) c.595del (p.Thr199LeufsTer23) n.358del c.680del c.388del (p.Thr130LeufsTer23) c.415del (p.Thr139LeufsTer23) c.349del (p.Thr117LeufsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |