| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17888430C>T | CA9303240 | SLC5A5 | c.1626C>T (p.Cys542=) c.1659C>T (p.Cys553=) c.1392C>T (p.Cys464=) c.1293C>T (p.Cys431=) c.1359C>T (p.Cys453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17888430C= | CA2326080531 | SLC5A5 | c.1626C= (p.Cys542=) c.1659C= (p.Cys553=) c.1392C= (p.Cys464=) c.1293C= (p.Cys431=) c.1359C= (p.Cys453=) | dbSNP |