| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64593548C>T | CA116314 | SLC22A12 | c.650C>T (p.Thr217Met) c.560-87C>T (n.560-87C>T) c.506+666C>T (n.506+666C>T) c.-2-87C>T (n.-2-87C>T) c.545C>T (p.Thr182Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64593548C>G | CA223867167 | SLC22A12 | c.650C>G (p.Thr217Arg) c.560-87C>G (n.560-87C>G) c.506+666C>G (n.506+666C>G) c.-2-87C>G (n.-2-87C>G) c.545C>G (p.Thr182Arg) | dbSNP gnomAD v4 |