| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44320536C>T | CA1640800 | PREPL,SLC3A1 | c.1955C>T (p.Thr652Met) c.*820G>A (n.*820G>A) c.1121C>T (p.Thr374Met) c.848C>T (p.Thr283Met) c.313G>A (n.313G>A) c.*893G>A (n.*893G>A) c.*2341C>T (n.*2341C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.44320536C>G | CA127834 | PREPL,SLC3A1 | c.1955C>G (p.Thr652Arg) c.*820G>C (n.*820G>C) c.1121C>G (p.Thr374Arg) c.848C>G (p.Thr283Arg) c.313G>C (n.313G>C) c.*893G>C (n.*893G>C) c.*2341C>G (n.*2341C>G) | ClinVar dbSNP gnomAD v4 |