| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.148512911del | CA16610250 | MBD5 | c.3084del n.68del c.4494del (p.Lys1499AsnfsTer?) c.5154del (p.Lys1719AsnfsTer?) c.4455del (p.Lys1486AsnfsTer?) c.3164del n.2236del c.694del (n.694del) c.*100del (n.*100del) c.203del c.5193del (p.Lys1732AsnfsTer?) | ClinVar dbSNP |
| 2 | g.148512911dup | CA536898360 | MBD5 | c.3084dup n.68dup c.4494dup (p.Lys1499GlnfsTer22) c.5154dup (p.Lys1719GlnfsTer22) c.4455dup (p.Lys1486GlnfsTer22) c.3164dup n.2236dup c.694dup (n.694dup) c.*100dup (n.*100dup) c.203dup c.5193dup (p.Lys1732GlnfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |