Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132906785dup | CA658657920 | TSC1 | c.1385dup (p.Leu462PhefsTer3) c.1388dup (p.Leu463PhefsTer3) c.1001dup (p.Leu334PhefsTer3) c.1025dup (p.Leu342PhefsTer3) c.1232dup (p.Leu411PhefsTer3) c.*1129dup (n.*1129dup) c.*1158dup (n.*1158dup) c.1235dup (p.Leu412PhefsTer3) c.125dup (p.Leu42PhefsTer3) c.*1155dup (n.*1155dup) n.1763dup n.2239dup c.*627dup (n.*627dup) n.2264dup n.452dup c.1022dup (p.Leu341PhefsTer3) | ClinVar dbSNP gnomAD v4 |
9 | g.132906785del | CA16618772 | TSC1 | c.1385del (p.Leu462Ter) c.1388del (p.Leu463Ter) c.1001del (p.Leu334Ter) c.1025del (p.Leu342Ter) c.1232del (p.Leu411Ter) c.*1129del (n.*1129del) c.*1158del (n.*1158del) c.1235del (p.Leu412Ter) c.125del (p.Leu42Ter) c.*1155del (n.*1155del) n.1763del n.2239del c.*627del (n.*627del) n.2264del n.452del c.1022del (p.Leu341Ter) | ClinVar dbSNP |