| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16000517G>A | CA438384418 | PROM1 | c.1557C>T (p.Tyr519=) c.*1240C>T (n.*1240C>T) c.1530C>T (p.Tyr510=) c.1323C>T (p.Tyr441=) c.1350C>T (p.Tyr450=) c.1284C>T (p.Tyr428=) | dbSNP gnomAD v4 |
| 4 | g.16000517G>T | CA201058 | PROM1 | c.1557C>A (p.Tyr519Ter) c.*1240C>A (n.*1240C>A) c.1530C>A (p.Tyr510Ter) c.1323C>A (p.Tyr441Ter) c.1350C>A (p.Tyr450Ter) c.1284C>A (p.Tyr428Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16000517G>C | CA356433022 | PROM1 | c.1557C>G (p.Tyr519Ter) c.*1240C>G (n.*1240C>G) c.1530C>G (p.Tyr510Ter) c.1323C>G (p.Tyr441Ter) c.1350C>G (p.Tyr450Ter) c.1284C>G (p.Tyr428Ter) | ClinVar dbSNP |