| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6703006G>A | CA210667 | SLC13A5 | c.680C>T (p.Thr227Met) c.629C>T (p.Thr210Met) c.551C>T (p.Thr184Met) c.*430C>T (n.*430C>T) n.1813C>T c.569C>T (p.Thr190Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.6703006G= | CA2245458920 | SLC13A5 | c.680C= (p.Thr227=) c.629C= (p.Thr210=) c.551C= (p.Thr184=) c.*430C= (n.*430C=) n.1813C= c.569C= (p.Thr190=) | dbSNP |