| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45507545dup | CA090937 | MMACHC | c.271dup (p.Arg91LysfsTer14) c.100dup (p.Arg34LysfsTer14) c.82-667dup (n.82-667dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507545A= | CA1144232803 | MMACHC | c.271A= (p.Arg91=) c.100A= (p.Arg34=) c.82-667A= (n.82-667A=) | dbSNP |