| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21001943_21001945del | CA1546518 | APOB | c.13480_13482del (p.Gln4494del) c.13478_13480del (n.13478_13480del) c.5870-2669_5870-2667del (n.5870-2669_5870-2667del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21001943_21001945dup | CA2493472694 | APOB | c.13480_13482dup (p.Gln4494_Phe4495insGln) c.13478_13480dup (n.13478_13480dup) c.5870-2669_5870-2667dup (n.5870-2669_5870-2667dup) | dbSNP |