| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2076116G>A | CA017887 | TSC2 | c.*1235G>A (n.*1235G>A) c.2733G>A (p.Trp911Ter) c.2688G>A (p.Trp896Ter) c.*2125G>A (n.*2125G>A) c.*3742G>A (n.*3742G>A) c.2721G>A (p.Trp907Ter) c.1345G>A c.2681G>A n.970G>A n.1701G>A c.2541G>A (p.Trp847Ter) c.*1987G>A (n.*1987G>A) c.2577G>A (p.Trp859Ter) c.2088G>A (p.Trp696Ter) c.2850G>A (p.Trp950Ter) c.1344G>A (p.Trp448Ter) | ClinVar dbSNP |
| 16 | g.2076116G>C | CA394279375 | TSC2 | c.*1235G>C (n.*1235G>C) c.2733G>C (p.Trp911Cys) c.2688G>C (p.Trp896Cys) c.*2125G>C (n.*2125G>C) c.*3742G>C (n.*3742G>C) c.2721G>C (p.Trp907Cys) c.1345G>C c.2681G>C n.970G>C n.1701G>C c.2541G>C (p.Trp847Cys) c.*1987G>C (n.*1987G>C) c.2577G>C (p.Trp859Cys) c.2088G>C (p.Trp696Cys) c.2850G>C (p.Trp950Cys) c.1344G>C (p.Trp448Cys) | dbSNP |