| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44280827G>T | CA1640158 | SLC3A1 | c.542G>T (p.Arg181Leu) c.*553G>T (n.*553G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.44280827G>A | CA127833 | SLC3A1 | c.542G>A (p.Arg181Gln) c.*553G>A (n.*553G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.44280827G= | CA2494197284 | SLC3A1 | c.542G= (p.Arg181=) c.*553G= (n.*553G=) | dbSNP |