| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178592914del | CA261890 | TTN,TTN-AS1 | c.51501del (p.Glu17167AspfsTer24) c.32586del (p.Glu10862AspfsTer24) c.32385del (p.Glu10795AspfsTer24) c.32010del (p.Glu10670AspfsTer24) c.59205del (p.Glu19735AspfsTer24) c.54282del (p.Glu18094AspfsTer24) n.597-4682del n.3364+1600del c.58302del (p.Glu19434AspfsTer24) c.32196del (p.Glu10732AspfsTer24) c.32055del (p.Glu10685AspfsTer24) c.58098del (p.Glu19366AspfsTer24) c.53496del (p.Glu17832AspfsTer24) c.53493del (p.Glu17831AspfsTer24) c.50535del (p.Glu16845AspfsTer24) c.32151del (p.Glu10717AspfsTer24) c.53646del (p.Glu17882AspfsTer24) c.53643del (p.Glu17881AspfsTer24) c.53076del (p.Glu17692AspfsTer24) c.50418del (p.Glu16806AspfsTer24) c.50337del (p.Glu16779AspfsTer24) c.32100del (p.Glu10700AspfsTer24) c.21954del (p.Glu7318AspfsTer24) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178592914C= | CA3085598231 | TTN,TTN-AS1 | c.51501G= (p.Glu17167=) c.32586G= (p.Glu10862=) c.32385G= (p.Glu10795=) c.32010G= (p.Glu10670=) c.59205G= (p.Glu19735=) c.54282G= (p.Glu18094=) n.597-4682C= n.3364+1600C= c.58302G= (p.Glu19434=) c.32196G= (p.Glu10732=) c.32055G= (p.Glu10685=) c.58098G= (p.Glu19366=) c.53496G= (p.Glu17832=) c.53493G= (p.Glu17831=) c.50535G= (p.Glu16845=) c.32151G= (p.Glu10717=) c.53646G= (p.Glu17882=) c.53643G= (p.Glu17881=) c.53076G= (p.Glu17692=) c.50418G= (p.Glu16806=) c.50337G= (p.Glu16779=) c.32100G= (p.Glu10700=) c.21954G= (p.Glu7318=) | dbSNP |