| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16025218G>A | CA356424586 | PROM1 | c.604C>T (p.Arg202Ter) c.*287C>T (n.*287C>T) c.577C>T (p.Arg193Ter) n.340C>T c.662C>T c.370C>T (p.Arg124Ter) c.397C>T (p.Arg133Ter) c.331C>T (p.Arg111Ter) | dbSNP gnomAD v4 |
| 4 | g.16025218G>C | CA236211 | PROM1 | c.604C>G (p.Arg202Gly) c.*287C>G (n.*287C>G) c.577C>G (p.Arg193Gly) n.340C>G c.662C>G c.370C>G (p.Arg124Gly) c.397C>G (p.Arg133Gly) c.331C>G (p.Arg111Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16025218G>T | CA92568802 | PROM1 | c.604C>A (p.Arg202=) c.*287C>A (n.*287C>A) c.577C>A (p.Arg193=) n.340C>A c.662C>A c.370C>A (p.Arg124=) c.397C>A (p.Arg133=) c.331C>A (p.Arg111=) | dbSNP gnomAD v4 |