| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15994028G>T | CA92583202 | PROM1 | c.1726C>A (p.Gln576Lys) c.*1409C>A (n.*1409C>A) c.1699C>A (p.Gln567Lys) c.1492C>A (p.Gln498Lys) c.1519C>A (p.Gln507Lys) c.1453C>A (p.Gln485Lys) | dbSNP |
| 4 | g.15994028G>A | CA253536 | PROM1 | c.1726C>T (p.Gln576Ter) c.*1409C>T (n.*1409C>T) c.1699C>T (p.Gln567Ter) c.1492C>T (p.Gln498Ter) c.1519C>T (p.Gln507Ter) c.1453C>T (p.Gln485Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |