| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48905271G>A | CA163127 | SLC35A2 | c.638C>T (p.Ser213Phe) c.355-379C>T (n.355-379C>T) c.427-379C>T (n.427-379C>T) c.212-12C>T c.422C>T (p.Ser141Phe) c.722C>T (p.Ser241Phe) c.677C>T (p.Ser226Phe) c.424+1121C>T c.455C>T (p.Ser152Phe) c.*532C>T (n.*532C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.48905271G= | CA2428428914 | SLC35A2 | c.638C= (p.Ser213=) c.355-379C= (n.355-379C=) c.427-379C= (n.427-379C=) c.212-12C= c.422C= (p.Ser141=) c.722C= (p.Ser241=) c.677C= (p.Ser226=) c.424+1121C= c.455C= (p.Ser152=) c.*532C= (n.*532C=) | dbSNP |