| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45509024_45509026del | CA223197 | MMACHC | c.658_660del (p.Lys220del) c.487_489del (p.Lys163del) c.463_465del (p.Lys155del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45509024_45509026dup | CA2473783776 | MMACHC | c.658_660dup (p.Lys220_Ala221insLys) c.487_489dup (p.Lys163_Ala164insLys) c.463_465dup (p.Lys155_Ala156insLys) | dbSNP |