| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105570_11105587del | CA16602305 | LDLR | c.922_939del (p.Cys308_Asp313del) c.664_681del (p.Cys222_Asp227del) c.918_935del c.314-1822_314-1805del (n.314-1822_314-1805del) c.541_558del (p.Cys181_Asp186del) c.314-995_314-978del (n.314-995_314-978del) c.264_281del n.814_831del n.781_798del | ClinVar dbSNP |
| 19 | g.11105570_11105587dup | CA250482 | LDLR | c.922_939dup (p.Asp313_Glu314insCysLysAspLysSerAsp) c.664_681dup (p.Asp227_Glu228insCysLysAspLysSerAsp) c.918_935dup c.314-1822_314-1805dup (n.314-1822_314-1805dup) c.541_558dup (p.Asp186_Glu187insCysLysAspLysSerAsp) c.314-995_314-978dup (n.314-995_314-978dup) c.264_281dup n.814_831dup n.781_798dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |