| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.25812922G>C | CA363158068 | SLC17A1 | c.806C>G (p.Thr269Ser) c.*57C>G (n.*57C>G) c.735+173C>G (n.735+173C>G) c.719C>G (p.Thr240Ser) c.593C>G (p.Thr198Ser) c.956C>G (p.Thr319Ser) c.869C>G (p.Thr290Ser) c.885+173C>G (n.885+173C>G) c.872C>G (p.Thr291Ser) | dbSNP |
| 6 | g.25812922G>A | CA3662596 | SLC17A1 | c.806C>T (p.Thr269Ile) c.*57C>T (n.*57C>T) c.735+173C>T (n.735+173C>T) c.719C>T (p.Thr240Ile) c.593C>T (p.Thr198Ile) c.956C>T (p.Thr319Ile) c.869C>T (p.Thr290Ile) c.885+173C>T (n.885+173C>T) c.872C>T (p.Thr291Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |