| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178590992G>A | CA16604007 | TTN,TTN-AS1 | c.53029C>T (p.Arg17677Ter) c.34114C>T (p.Arg11372Ter) c.33913C>T (p.Arg11305Ter) c.33538C>T (p.Arg11180Ter) c.60733C>T (p.Arg20245Ter) c.55810C>T (p.Arg18604Ter) n.597-6604G>A n.3189-147G>A c.59830C>T (p.Arg19944Ter) c.33724C>T (p.Arg11242Ter) c.33583C>T (p.Arg11195Ter) c.59626C>T (p.Arg19876Ter) c.55024C>T (p.Arg18342Ter) c.55021C>T (p.Arg18341Ter) c.52063C>T (p.Arg17355Ter) c.33679C>T (p.Arg11227Ter) c.55174C>T (p.Arg18392Ter) c.55171C>T (p.Arg18391Ter) c.54604C>T (p.Arg18202Ter) c.51946C>T (p.Arg17316Ter) c.51865C>T (p.Arg17289Ter) c.33628C>T (p.Arg11210Ter) c.23482C>T (p.Arg7828Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178590992G= | CA1310539741 | TTN,TTN-AS1 | c.53029C= (p.Arg17677=) c.34114C= (p.Arg11372=) c.33913C= (p.Arg11305=) c.33538C= (p.Arg11180=) c.60733C= (p.Arg20245=) c.55810C= (p.Arg18604=) n.597-6604G= n.3189-147G= c.59830C= (p.Arg19944=) c.33724C= (p.Arg11242=) c.33583C= (p.Arg11195=) c.59626C= (p.Arg19876=) c.55024C= (p.Arg18342=) c.55021C= (p.Arg18341=) c.52063C= (p.Arg17355=) c.33679C= (p.Arg11227=) c.55174C= (p.Arg18392=) c.55171C= (p.Arg18391=) c.54604C= (p.Arg18202=) c.51946C= (p.Arg17316=) c.51865C= (p.Arg17289=) c.33628C= (p.Arg11210=) c.23482C= (p.Arg7828=) | dbSNP |