| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44312607C>T | CA1640560 | SLC3A1 | c.1354C>T (p.Arg452Trp) c.*1365C>T (n.*1365C>T) c.214C>T (p.Arg72Trp) c.520C>T (p.Arg174Trp) c.247C>T (p.Arg83Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.44312607C>A | CA425922597 | SLC3A1 | c.1354C>A (p.Arg452=) c.*1365C>A (n.*1365C>A) c.214C>A (p.Arg72=) c.520C>A (p.Arg174=) c.247C>A (p.Arg83=) | dbSNP |
| 2 | g.44312607C>G | CA1640561 | SLC3A1 | c.1354C>G (p.Arg452Gly) c.*1365C>G (n.*1365C>G) c.214C>G (p.Arg72Gly) c.520C>G (p.Arg174Gly) c.247C>G (p.Arg83Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |