| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48905109T>C | CA357924 | SLC35A2 | c.800A>G (p.Tyr267Cys) c.355-217A>G (n.355-217A>G) c.427-217A>G (n.427-217A>G) c.362A>G c.884A>G (p.Tyr295Cys) c.839A>G (p.Tyr280Cys) c.424+1283A>G c.617A>G (p.Tyr206Cys) c.*694A>G (n.*694A>G) | ClinVar dbSNP |
| X | g.48905109T= | CA2428428874 | SLC35A2 | c.800A= (p.Tyr267=) c.355-217A= (n.355-217A=) c.427-217A= (n.427-217A=) c.362A= c.884A= (p.Tyr295=) c.839A= (p.Tyr280=) c.424+1283A= c.617A= (p.Tyr206=) c.*694A= (n.*694A=) | dbSNP |