| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2080171del | CA16620096 | TSC2 | c.*1822del (n.*1822del) c.3320del (p.His1107LeufsTer?) c.3401del (p.His1134LeufsTer?) c.*3853del (n.*3853del) c.*4326del (n.*4326del) c.3404del (p.His1135LeufsTer?) c.3272del (p.His1091LeufsTer?) c.3305del (p.His1102LeufsTer?) c.2058del c.3275del (p.His1092LeufsTer?) c.3394del n.550del n.1557del n.2288del n.19del n.696del c.3128del (p.His1043LeufsTer?) c.*2571del (n.*2571del) c.3164del (p.His1055LeufsTer?) n.1231del n.761del c.3293del (p.His1098LeufsTer?) c.2672del (p.His891LeufsTer?) c.3566del (p.His1189LeufsTer?) c.3437del (p.His1146LeufsTer?) c.2060del (p.His687LeufsTer?) | ClinVar dbSNP |
| 16 | g.2080171A= | CA2202032571 | TSC2 | c.*1822A= (n.*1822A=) c.3320A= (p.His1107=) c.3401A= (p.His1134=) c.*3853A= (n.*3853A=) c.*4326A= (n.*4326A=) c.3404A= (p.His1135=) c.3272A= (p.His1091=) c.3305A= (p.His1102=) c.2058A= c.3275A= (p.His1092=) c.3394A= n.550A= n.1557A= n.2288A= n.19A= n.696A= c.3128A= (p.His1043=) c.*2571A= (n.*2571A=) c.3164A= (p.His1055=) n.1231A= n.761A= c.3293A= (p.His1098=) c.2672A= (p.His891=) c.3566A= (p.His1189=) c.3437A= (p.His1146=) c.2060A= (p.His687=) | dbSNP dbSNP |