| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169477478G>A | CA253656 | SLC19A2 | c.484C>T (p.Arg162Ter) c.205-7292C>T (n.205-7292C>T) c.292C>T (p.Arg98Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.169477478G= | CA1140886894 | SLC19A2 | c.484C= (p.Arg162=) c.205-7292C= (n.205-7292C=) c.292C= (p.Arg98=) | dbSNP |