| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201361981_201361983del | CA006429 | TNNT2 | c.644_646del (p.Lys215del) c.629_631del (p.Lys210del) c.617_619del (p.Lys206del) c.620_622del (p.Lys207del) c.650_652del (p.Lys217del) c.608_610del (p.Lys203del) n.1120_1122del c.659_661del (p.Lys220del) c.*18_*20del (n.*18_*20del) c.*559_*561del (n.*559_*561del) c.530_532del (p.Lys177del) c.638_640del (p.Lys213del) c.611_613del (p.Lys204del) c.443_445del (p.Lys148del) n.952_954del n.114_116del n.1868_1870del n.555_557del c.626_628del (p.Lys209del) c.656_658del (p.Lys219del) c.653_655del (p.Lys218del) c.614_616del (p.Lys205del) c.452_454del (p.Lys151del) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.201361978_201361983del | CA2740090284 | TNNT2 | c.641_646del (p.Lys214_Lys215del) c.626_631del (p.Lys209_Lys210del) c.614_619del (p.Lys205_Lys206del) c.617_622del (p.Lys206_Lys207del) c.647_652del (p.Lys216_Lys217del) c.605_610del (p.Lys202_Lys203del) n.1117_1122del c.656_661del (p.Lys219_Lys220del) c.*15_*20del (n.*15_*20del) c.*556_*561del (n.*556_*561del) c.527_532del (p.Lys176_Lys177del) c.635_640del (p.Lys212_Lys213del) c.608_613del (p.Lys203_Lys204del) c.440_445del (p.Lys147_Lys148del) n.949_954del n.111_116del n.1865_1870del n.552_557del c.623_628del (p.Lys208_Lys209del) c.653_658del (p.Lys218_Lys219del) c.650_655del (p.Lys217_Lys218del) c.611_616del (p.Lys204_Lys205del) c.449_454del (p.Lys150_Lys151del) | ClinVar dbSNP |