| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16006643dup | CA2866793 | PROM1 | c.1354dup (p.Tyr452LeufsTer13) c.*1037dup (n.*1037dup) c.1327dup (p.Tyr443LeufsTer13) c.1412dup c.1120dup (p.Tyr374LeufsTer13) c.1147dup (p.Tyr383LeufsTer13) c.1081dup (p.Tyr361LeufsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.16006643del | CA2670099981 | PROM1 | c.1354del (p.Tyr452ThrfsTer?) c.*1037del (n.*1037del) c.1327del (p.Tyr443ThrfsTer?) c.1412del c.1120del (p.Tyr374ThrfsTer?) c.1147del (p.Tyr383ThrfsTer?) c.1081del (p.Tyr361ThrfsTer?) | dbSNP gnomAD v4 |