| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44320614T>C | CA127832 | PREPL,SLC3A1 | c.2033T>C (p.Leu678Pro) c.*742A>G (n.*742A>G) c.1199T>C (p.Leu400Pro) c.926T>C (p.Leu309Pro) c.235A>G (n.235A>G) c.*815A>G (n.*815A>G) c.*2419T>C (n.*2419T>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.44320614T= | CA2494221188 | PREPL,SLC3A1 | c.2033T= (p.Leu678=) c.*742A= (n.*742A=) c.1199T= (p.Leu400=) c.926T= (p.Leu309=) c.235A= (n.235A=) c.*815A= (n.*815A=) c.*2419T= (n.*2419T=) | dbSNP |