| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15994064del | CA2866669 | PROM1 | c.1697del (p.Asn566IlefsTer29) c.*1380del (n.*1380del) c.1670del (p.Asn557IlefsTer29) c.1463del (p.Asn488IlefsTer29) c.1490del (p.Asn497IlefsTer29) c.1424del (p.Asn475IlefsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.15994064dup | CA2866672 | PROM1 | c.1697dup (p.Asn566LysfsTer2) c.*1380dup (n.*1380dup) c.1670dup (p.Asn557LysfsTer2) c.1463dup (p.Asn488LysfsTer2) c.1490dup (p.Asn497LysfsTer2) c.1424dup (p.Asn475LysfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |