| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178557374del | CA16610357 | TTN,TTN-AS1 | c.80184del (p.Phe26729SerfsTer?) c.61269del (p.Phe20424SerfsTer?) c.61068del (p.Phe20357SerfsTer?) c.60693del (p.Phe20232SerfsTer?) c.87888del (p.Phe29297SerfsTer?) c.82965del (p.Phe27656SerfsTer?) n.447-13926del n.2043+15013del c.86985del (p.Phe28996SerfsTer?) c.60879del (p.Phe20294SerfsTer?) c.60738del (p.Phe20247SerfsTer?) c.86781del (p.Phe28928SerfsTer?) c.82179del (p.Phe27394SerfsTer?) c.82176del (p.Phe27393SerfsTer?) c.79218del (p.Phe26407SerfsTer?) c.60834del (p.Phe20279SerfsTer?) c.82329del (p.Phe27444SerfsTer?) c.82326del (p.Phe27443SerfsTer?) c.81759del (p.Phe27254SerfsTer?) c.79101del (p.Phe26368SerfsTer?) c.79020del (p.Phe26341SerfsTer?) c.60783del (p.Phe20262SerfsTer?) c.50637del (p.Phe16880SerfsTer?) | ClinVar dbSNP |
| 2 | g.178557374G= | CA1310525757 | TTN,TTN-AS1 | c.80184C= (p.His26728=) c.61269C= (p.His20423=) c.61068C= (p.His20356=) c.60693C= (p.His20231=) c.87888C= (p.His29296=) c.82965C= (p.His27655=) n.447-13926G= n.2043+15013G= c.86985C= (p.His28995=) c.60879C= (p.His20293=) c.60738C= (p.His20246=) c.86781C= (p.His28927=) c.82179C= (p.His27393=) c.82176C= (p.His27392=) c.79218C= (p.His26406=) c.60834C= (p.His20278=) c.82329C= (p.His27443=) c.82326C= (p.His27442=) c.81759C= (p.His27253=) c.79101C= (p.His26367=) c.79020C= (p.His26340=) c.60783C= (p.His20261=) c.50637C= (p.His16879=) | dbSNP dbSNP |