| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6703031C>T | CA210665 | SLC13A5 | c.655G>A (p.Gly219Arg) c.604G>A (p.Gly202Arg) c.526G>A (p.Gly176Arg) c.*405G>A (n.*405G>A) n.1788G>A c.544G>A (p.Gly182Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6703031C= | CA2245458987 | SLC13A5 | c.655G= (p.Gly219=) c.604G= (p.Gly202=) c.526G= (p.Gly176=) c.*405G= (n.*405G=) n.1788G= c.544G= (p.Gly182=) | dbSNP |