| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178564246del | CA273253 | TTN,TTN-AS1 | c.74182del (p.Glu24728LysfsTer?) c.55267del (p.Glu18423LysfsTer?) c.55066del (p.Glu18356LysfsTer?) c.54691del (p.Glu18231LysfsTer?) c.81886del (p.Glu27296LysfsTer?) c.76963del (p.Glu25655LysfsTer?) n.447-7054del n.2044-18326del c.80983del (p.Glu26995LysfsTer?) c.54877del (p.Glu18293LysfsTer?) c.54736del (p.Glu18246LysfsTer?) c.80779del (p.Glu26927LysfsTer?) c.76177del (p.Glu25393LysfsTer?) c.76174del (p.Glu25392LysfsTer?) c.73216del (p.Glu24406LysfsTer?) c.54832del (p.Glu18278LysfsTer?) c.76327del (p.Glu25443LysfsTer?) c.76324del (p.Glu25442LysfsTer?) c.75757del (p.Glu25253LysfsTer?) c.73099del (p.Glu24367LysfsTer?) c.73018del (p.Glu24340LysfsTer?) c.54781del (p.Glu18261LysfsTer?) c.44635del (p.Glu14879LysfsTer?) | ClinVar dbSNP |
| 2 | g.178564246C= | CA3085660985 | TTN,TTN-AS1 | c.74182G= (p.Glu24728=) c.55267G= (p.Glu18423=) c.55066G= (p.Glu18356=) c.54691G= (p.Glu18231=) c.81886G= (p.Glu27296=) c.76963G= (p.Glu25655=) n.447-7054C= n.2044-18326C= c.80983G= (p.Glu26995=) c.54877G= (p.Glu18293=) c.54736G= (p.Glu18246=) c.80779G= (p.Glu26927=) c.76177G= (p.Glu25393=) c.76174G= (p.Glu25392=) c.73216G= (p.Glu24406=) c.54832G= (p.Glu18278=) c.76327G= (p.Glu25443=) c.76324G= (p.Glu25442=) c.75757G= (p.Glu25253=) c.73099G= (p.Glu24367=) c.73018G= (p.Glu24340=) c.54781G= (p.Glu18261=) c.44635G= (p.Glu14879=) | dbSNP |