| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17888397C>T | CA9303229 | SLC5A5 | c.1593C>T (p.Tyr531=) c.1626C>T (p.Tyr542=) c.1359C>T (p.Tyr453=) c.1260C>T (p.Tyr420=) c.1326C>T (p.Tyr442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.17888397C>G | CA118967 | SLC5A5 | c.1593C>G (p.Tyr531Ter) c.1626C>G (p.Tyr542Ter) c.1359C>G (p.Tyr453Ter) c.1260C>G (p.Tyr420Ter) c.1326C>G (p.Tyr442Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |