| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16182879del | CA7926058 | ABCC6 | c.1999del (p.Ala667GlnfsTer21) n.2040-950del c.1657del (p.Ala553GlnfsTer21) n.2234del n.2235del n.2036del c.2035del (p.Ala679GlnfsTer21) n.2180del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16182879dup | CA7926059 | ABCC6 | c.1999dup (p.Ala667GlyfsTer?) n.2040-950dup c.1657dup (p.Ala553GlyfsTer?) n.2234dup n.2235dup n.2036dup c.2035dup (p.Ala679GlyfsTer?) n.2180dup | dbSNP ExAC gnomAD v2 gnomAD v4 |