| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.763523A>T | CA346991 | SLC52A3 | c.1048T>A (p.Leu350Met) c.567+1685T>A (n.567+1685T>A) n.618+1685T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.763523A>G | CA9724627 | SLC52A3 | c.1048T>C (p.Leu350=) c.567+1685T>C (n.567+1685T>C) n.618+1685T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.763523A= | CA2345349268 | SLC52A3 | c.1048T= (p.Leu350=) c.567+1685T= (n.567+1685T=) n.618+1685T= | dbSNP |