| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43670922_43670924dup | CA138315133 | POLR1C,RSPH9 | c.804_806dup (p.Lys268_Asn269insLys) c.856_858dup (p.Glu286_His287insGlu) c.901_903dup (p.Glu301_His302insGlu) n.894_896dup n.804_806dup c.945+141651_945+141653dup (n.945+141651_945+141653dup) | dbSNP |
| 6 | g.43670922_43670924del | CA264805 | POLR1C,RSPH9 | c.804_806del (p.Lys268del) c.856_858del (p.Glu286del) c.901_903del (p.Glu301del) n.894_896del n.804_806del c.945+141651_945+141653del (n.945+141651_945+141653del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |