| 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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84904200G>T | CA393370575 | SLC28A1 | c.565G>T (p.Val189Phe) c.538G>T (p.Val180Phe) c.331G>T (p.Val111Phe) n.771G>T c.-583G>T (n.-583G>T) | dbSNP gnomAD v4 |
| 15 | g.84904200G= | CA2192385639 | SLC28A1 | c.565G= (p.Val189=) c.538G= (p.Val180=) c.331G= (p.Val111=) n.771G= c.-583G= (n.-583G=) | dbSNP |