| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61743119dup | CA288549 | BRIP1 | c.2273dup (p.Ala759SerfsTer6) c.2403dup (n.2403dup) n.1013dup n.1352dup c.*1699dup (n.*1699dup) n.8150dup c.2051dup (p.Ala685SerfsTer6) c.2333dup (p.Ala779SerfsTer6) n.403dup n.686dup c.1766dup (p.Ala590SerfsTer6) c.338dup (p.Ala114SerfsTer6) c.256dup c.2213dup (p.Ala739SerfsTer6) c.2132dup (p.Ala712SerfsTer6) c.1850dup (p.Ala618SerfsTer6) n.524-1062dup c.1790dup (p.Ala598SerfsTer6) c.419dup (p.Ala141SerfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61743119A= | CA3223341890 | BRIP1 | c.2273T= (p.Val758=) c.2403T= (n.2403T=) n.1013T= n.1352T= c.*1699T= (n.*1699T=) n.8150T= c.2051T= (p.Val684=) c.2333T= (p.Val778=) n.403T= n.686T= c.1766T= (p.Val589=) c.338T= (p.Val113=) c.256T= c.2213T= (p.Val738=) c.2132T= (p.Val711=) c.1850T= (p.Val617=) n.524-1062A= c.1790T= (p.Val597=) c.419T= (p.Val140=) | dbSNP |