| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29125411T>C | CA16609282 | KREMEN1 | c.626T>C (p.Phe209Ser) c.620T>C (p.Phe207Ser) c.190T>C n.215T>C c.353-11931T>C (n.353-11931T>C) c.311T>C (p.Phe104Ser) c.209T>C (p.Phe70Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.29125411T= | CA2400431250 | KREMEN1 | c.626T= (p.Phe209=) c.620T= (p.Phe207=) c.190T= n.215T= c.353-11931T= (n.353-11931T=) c.311T= (p.Phe104=) c.209T= (p.Phe70=) | dbSNP |