| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2079163dup | CA018510 | TSC2 | c.*1516dup (n.*1516dup) c.3014dup (p.Tyr1005Ter) c.3095dup (p.Tyr1032Ter) c.*3547dup (n.*3547dup) c.*4020dup (n.*4020dup) c.3098dup (p.Tyr1033Ter) c.2966dup (p.Tyr989Ter) c.326dup (n.326dup) n.455dup c.2999dup (p.Tyr1000Ter) c.1752dup c.2969dup (p.Tyr990Ter) c.3088dup n.244dup n.1251dup n.1982dup n.390dup c.2822dup (p.Tyr941Ter) c.*2265dup (n.*2265dup) c.2858dup (p.Tyr953Ter) c.324dup c.338dup (n.338dup) n.925dup c.2987dup (p.Tyr996Ter) c.2366dup (p.Tyr789Ter) c.3260dup (p.Tyr1087Ter) c.3131dup (p.Tyr1044Ter) c.1754dup (p.Tyr585Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2079163A= | CA2581244026 | TSC2 | c.*1516A= (n.*1516A=) c.3014A= (p.Tyr1005=) c.3095A= (p.Tyr1032=) c.*3547A= (n.*3547A=) c.*4020A= (n.*4020A=) c.3098A= (p.Tyr1033=) c.2966A= (p.Tyr989=) c.326A= (n.326A=) n.455A= c.2999A= (p.Tyr1000=) c.1752A= c.2969A= (p.Tyr990=) c.3088A= n.244A= n.1251A= n.1982A= n.390A= c.2822A= (p.Tyr941=) c.*2265A= (n.*2265A=) c.2858A= (p.Tyr953=) c.324A= c.338A= (n.338A=) n.925A= c.2987A= (p.Tyr996=) c.2366A= (p.Tyr789=) c.3260A= (p.Tyr1087=) c.3131A= (p.Tyr1044=) c.1754A= (p.Tyr585=) | dbSNP dbSNP |