| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.45682394G>A | CA8947161 | SLC14A2 | c.2638G>A (p.Ala880Thr) c.2503G>A (p.Ala835Thr) n.872+10001C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.45682394G>C | CA402334635 | SLC14A2 | c.2638G>C (p.Ala880Pro) c.2503G>C (p.Ala835Pro) n.872+10001C>G | dbSNP |
| 18 | g.45682394G= | CA2300488200 | SLC14A2 | c.2638G= (p.Ala880=) c.2503G= (p.Ala835=) n.872+10001C= | dbSNP |