| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178608704_178608707dup | CA309410 | TTN,TTN-AS1 | c.44603_44606dup (p.Glu14869AspfsTer2) c.25688_25691dup (p.Glu8564AspfsTer2) c.25487_25490dup (p.Glu8497AspfsTer2) c.25112_25115dup (p.Glu8372AspfsTer2) c.52307_52310dup (p.Glu17437AspfsTer2) c.47384_47387dup (p.Glu15796AspfsTer2) n.782+438_782+441dup c.51404_51407dup (p.Glu17136AspfsTer2) c.25298_25301dup (p.Glu8434AspfsTer2) c.25157_25160dup (p.Glu8387AspfsTer2) c.51200_51203dup (p.Glu17068AspfsTer2) c.46598_46601dup (p.Glu15534AspfsTer2) c.46595_46598dup (p.Glu15533AspfsTer2) c.43637_43640dup (p.Glu14547AspfsTer2) c.25253_25256dup (p.Glu8419AspfsTer2) c.46748_46751dup (p.Glu15584AspfsTer2) c.46745_46748dup (p.Glu15583AspfsTer2) c.46178_46181dup (p.Glu15394AspfsTer2) c.43520_43523dup (p.Glu14508AspfsTer2) c.43439_43442dup (p.Glu14481AspfsTer2) c.25202_25205dup (p.Glu8402AspfsTer2) c.15056_15059dup (p.Glu5020AspfsTer2) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178608704_178608707del | CA3085713672 | TTN,TTN-AS1 | c.44603_44606del (p.Ile14868LysfsTer9) c.25688_25691del (p.Ile8563LysfsTer9) c.25487_25490del (p.Ile8496LysfsTer9) c.25112_25115del (p.Ile8371LysfsTer9) c.52307_52310del (p.Ile17436LysfsTer9) c.47384_47387del (p.Ile15795LysfsTer9) n.782+438_782+441del c.51404_51407del (p.Ile17135LysfsTer9) c.25298_25301del (p.Ile8433LysfsTer9) c.25157_25160del (p.Ile8386LysfsTer9) c.51200_51203del (p.Ile17067LysfsTer9) c.46598_46601del (p.Ile15533LysfsTer9) c.46595_46598del (p.Ile15532LysfsTer9) c.43637_43640del (p.Ile14546LysfsTer9) c.25253_25256del (p.Ile8418LysfsTer9) c.46748_46751del (p.Ile15583LysfsTer9) c.46745_46748del (p.Ile15582LysfsTer9) c.46178_46181del (p.Ile15393LysfsTer9) c.43520_43523del (p.Ile14507LysfsTer9) c.43439_43442del (p.Ile14480LysfsTer9) c.25202_25205del (p.Ile8401LysfsTer9) c.15056_15059del (p.Ile5019LysfsTer9) | dbSNP |