| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178545864C>G | CA349462449 | TTN,TTN-AS1 | c.87668G>C (p.Gly29223Ala) c.68753G>C (p.Gly22918Ala) c.68552G>C (p.Gly22851Ala) c.68177G>C (p.Gly22726Ala) c.95372G>C (p.Gly31791Ala) c.90449G>C (p.Gly30150Ala) n.446+22228C>G n.2043+3503C>G c.94469G>C (p.Gly31490Ala) c.68363G>C (p.Gly22788Ala) c.68222G>C (p.Gly22741Ala) c.94265G>C (p.Gly31422Ala) c.89663G>C (p.Gly29888Ala) c.89660G>C (p.Gly29887Ala) c.86702G>C (p.Gly28901Ala) c.68318G>C (p.Gly22773Ala) c.89813G>C (p.Gly29938Ala) c.89810G>C (p.Gly29937Ala) c.89243G>C (p.Gly29748Ala) c.86585G>C (p.Gly28862Ala) c.86504G>C (p.Gly28835Ala) c.68267G>C (p.Gly22756Ala) c.58121G>C (p.Gly19374Ala) | ClinVar dbSNP |
| 2 | g.178545864C>T | CA358832 | TTN,TTN-AS1 | c.87668G>A (p.Gly29223Asp) c.68753G>A (p.Gly22918Asp) c.68552G>A (p.Gly22851Asp) c.68177G>A (p.Gly22726Asp) c.95372G>A (p.Gly31791Asp) c.90449G>A (p.Gly30150Asp) n.446+22228C>T n.2043+3503C>T c.94469G>A (p.Gly31490Asp) c.68363G>A (p.Gly22788Asp) c.68222G>A (p.Gly22741Asp) c.94265G>A (p.Gly31422Asp) c.89663G>A (p.Gly29888Asp) c.89660G>A (p.Gly29887Asp) c.86702G>A (p.Gly28901Asp) c.68318G>A (p.Gly22773Asp) c.89813G>A (p.Gly29938Asp) c.89810G>A (p.Gly29937Asp) c.89243G>A (p.Gly29748Asp) c.86585G>A (p.Gly28862Asp) c.86504G>A (p.Gly28835Asp) c.68267G>A (p.Gly22756Asp) c.58121G>A (p.Gly19374Asp) | ClinVar dbSNP |