| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.45672918G>T | CA402332304 | SLC14A2 | c.2248G>T (p.Val750Phe) c.2113G>T (p.Val705Phe) n.872+19477C>A | dbSNP |
| 18 | g.45672918G>A | CA8947018 | SLC14A2 | c.2248G>A (p.Val750Ile) c.2113G>A (p.Val705Ile) n.872+19477C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.45672918G= | CA2300484067 | SLC14A2 | c.2248G= (p.Val750=) c.2113G= (p.Val705=) n.872+19477C= | dbSNP |
| 18 | g.45672918G>C | CA402332302 | SLC14A2 | c.2248G>C (p.Val750Leu) c.2113G>C (p.Val705Leu) n.872+19477C>G | dbSNP |