| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189575169C>G | CA16604003 | SLC40A1 | c.263G>C (p.Arg88Thr) n.704G>C n.544G>C c.143G>C (p.Arg48Thr) | ClinVar dbSNP |
| 2 | g.189575169C= | CA1315653602 | SLC40A1 | c.263G= (p.Arg88=) n.704G= n.544G= c.143G= (p.Arg48=) | dbSNP |