| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169477212C>G | CA1233018 | SLC19A2 | c.750G>C (p.Trp250Cys) c.205-7026G>C (n.205-7026G>C) c.558G>C (p.Trp186Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169477212C>T | CA253659 | SLC19A2 | c.750G>A (p.Trp250Ter) c.205-7026G>A (n.205-7026G>A) c.558G>A (p.Trp186Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169477212C= | CA1140886893 | SLC19A2 | c.750G= (p.Trp250=) c.205-7026G= (n.205-7026G=) c.558G= (p.Trp186=) | dbSNP |