| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84904200G>C | CA393370574 | SLC28A1 | c.565G>C (p.Val189Leu) c.538G>C (p.Val180Leu) c.331G>C (p.Val111Leu) n.771G>C c.-583G>C (n.-583G>C) | dbSNP |
| 15 | g.84904200G>A | CA7710450 | SLC28A1 | c.565G>A (p.Val189Ile) c.538G>A (p.Val180Ile) c.331G>A (p.Val111Ile) n.771G>A c.-583G>A (n.-583G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |