| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17882160G>A | CA118971 | SLC5A5 | c.1183G>A (p.Gly395Arg) n.182G>A c.1216G>A (p.Gly406Arg) c.949G>A (p.Gly317Arg) c.850G>A (p.Gly284Arg) c.916G>A (p.Gly306Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17882160G= | CA2326077575 | SLC5A5 | c.1183G= (p.Gly395=) n.182G= c.1216G= (p.Gly406=) c.949G= (p.Gly317=) c.850G= (p.Gly284=) c.916G= (p.Gly306=) | dbSNP |