| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44312653T>C | CA127830 | SLC3A1 | c.1400T>C (p.Met467Thr) c.*1411T>C (n.*1411T>C) c.260T>C (p.Met87Thr) c.566T>C (p.Met189Thr) c.293T>C (p.Met98Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.44312653T>A | CA127831 | SLC3A1 | c.1400T>A (p.Met467Lys) c.*1411T>A (n.*1411T>A) c.260T>A (p.Met87Lys) c.566T>A (p.Met189Lys) c.293T>A (p.Met98Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |