| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178591104del | CA16610432 | TTN,TTN-AS1 | c.52917del (p.Tyr17639Ter) c.34002del (p.Tyr11334Ter) c.33801del (p.Tyr11267Ter) c.33426del (p.Tyr11142Ter) c.60621del (p.Tyr20207Ter) c.55698del (p.Tyr18566Ter) n.597-6492del n.3189-35del c.59718del (p.Tyr19906Ter) c.33612del (p.Tyr11204Ter) c.33471del (p.Tyr11157Ter) c.59514del (p.Tyr19838Ter) c.54912del (p.Tyr18304Ter) c.54909del (p.Tyr18303Ter) c.51951del (p.Tyr17317Ter) c.33567del (p.Tyr11189Ter) c.55062del (p.Tyr18354Ter) c.55059del (p.Tyr18353Ter) c.54492del (p.Tyr18164Ter) c.51834del (p.Tyr17278Ter) c.51753del (p.Tyr17251Ter) c.33516del (p.Tyr11172Ter) c.23370del (p.Tyr7790Ter) | ClinVar dbSNP |
| 2 | g.178591104A= | CA1310539822 | TTN,TTN-AS1 | c.52917T= (p.Tyr17639=) c.34002T= (p.Tyr11334=) c.33801T= (p.Tyr11267=) c.33426T= (p.Tyr11142=) c.60621T= (p.Tyr20207=) c.55698T= (p.Tyr18566=) n.597-6492A= n.3189-35A= c.59718T= (p.Tyr19906=) c.33612T= (p.Tyr11204=) c.33471T= (p.Tyr11157=) c.59514T= (p.Tyr19838=) c.54912T= (p.Tyr18304=) c.54909T= (p.Tyr18303=) c.51951T= (p.Tyr17317=) c.33567T= (p.Tyr11189=) c.55062T= (p.Tyr18354=) c.55059T= (p.Tyr18353=) c.54492T= (p.Tyr18164=) c.51834T= (p.Tyr17278=) c.51753T= (p.Tyr17251=) c.33516T= (p.Tyr11172=) c.23370T= (p.Tyr7790=) | dbSNP dbSNP |