| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73644583G>A | CA340439 | SLC17A5 | c.115C>T (p.Arg39Cys) c.64C>T (p.Arg22Cys) c.-84C>T (n.-84C>T) c.61-2659C>T (n.61-2659C>T) c.136C>T (p.Arg46Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644583G= | CA1638240628 | SLC17A5 | c.115C= (p.Arg39=) c.64C= (p.Arg22=) c.-84C= (n.-84C=) c.61-2659C= (n.61-2659C=) c.136C= (p.Arg46=) | dbSNP |