| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37148223dup | CA277794 | CPLANE1 | n.1424dup c.8425dup (p.Thr2809AsnfsTer8) c.8263dup (p.Thr2755AsnfsTer8) n.157dup c.5437dup (p.Thr1813AsnfsTer8) n.667dup c.5461dup (p.Thr1821AsnfsTer8) c.8422dup (p.Thr2808AsnfsTer8) c.8314dup (p.Thr2772AsnfsTer8) c.8296dup (p.Thr2766AsnfsTer8) c.5068dup (p.Thr1690AsnfsTer8) c.2998dup (p.Thr1000AsnfsTer8) c.8371dup (p.Thr2791AsnfsTer8) c.8317dup (p.Thr2773AsnfsTer8) c.8107dup (p.Thr2703AsnfsTer8) c.7753dup (p.Thr2585AsnfsTer8) c.5650dup (p.Thr1884AsnfsTer8) n.8600dup c.8236dup (p.Thr2746AsnfsTer8) c.7432dup (p.Thr2478AsnfsTer8) c.7237dup (p.Thr2413AsnfsTer8) n.8594dup n.8540dup n.8649dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37148223del | CA645544875 | CPLANE1 | n.1424del c.8425del (p.Thr2809HisfsTer2) c.8263del (p.Thr2755HisfsTer2) n.157del c.5437del (p.Thr1813HisfsTer2) n.667del c.5461del (p.Thr1821HisfsTer2) c.8422del (p.Thr2808HisfsTer2) c.8314del (p.Thr2772HisfsTer2) c.8296del (p.Thr2766HisfsTer2) c.5068del (p.Thr1690HisfsTer2) c.2998del (p.Thr1000HisfsTer2) c.8371del (p.Thr2791HisfsTer2) c.8317del (p.Thr2773HisfsTer2) c.8107del (p.Thr2703HisfsTer2) c.7753del (p.Thr2585HisfsTer2) c.5650del (p.Thr1884HisfsTer2) n.8600del c.8236del (p.Thr2746HisfsTer2) c.7432del (p.Thr2478HisfsTer2) c.7237del (p.Thr2413HisfsTer2) n.8594del n.8540del n.8649del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |