| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.100750702_100750707dup | CA256968 | PAX2 | c.314_319dup (p.Thr106_Gly107insGluThr) c.221_226dup (p.Thr75_Gly76insGluThr) c.203_208dup (p.Thr69_Gly70insGluThr) c.218_223dup (p.Thr74_Gly75insGluThr) n.131+14969_131+14974dup c.233_238dup (p.Thr79_Gly80insGluThr) n.125+4399_125+4404dup | ClinVar dbSNP |
| 10 | g.100750702_100750707del | CA2695201032 | PAX2 | c.314_319del (p.Glu105_Thr106del) c.221_226del (p.Glu74_Thr75del) c.203_208del (p.Glu68_Thr69del) c.218_223del (p.Glu73_Thr74del) n.131+14969_131+14974del c.233_238del (p.Glu78_Thr79del) n.125+4399_125+4404del | ClinVar dbSNP |