| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178539459C>G | CA269799 | TTN,TTN-AS1 | c.90902G>C (p.Arg30301Pro) c.71987G>C (p.Arg23996Pro) c.71786G>C (p.Arg23929Pro) c.71411G>C (p.Arg23804Pro) c.98606G>C (p.Arg32869Pro) c.93683G>C (p.Arg31228Pro) n.446+15823C>G n.1409C>G c.97703G>C (p.Arg32568Pro) c.71597G>C (p.Arg23866Pro) c.71456G>C (p.Arg23819Pro) c.97499G>C (p.Arg32500Pro) c.92897G>C (p.Arg30966Pro) c.92894G>C (p.Arg30965Pro) c.89936G>C (p.Arg29979Pro) c.71552G>C (p.Arg23851Pro) c.93047G>C (p.Arg31016Pro) c.93044G>C (p.Arg31015Pro) c.92477G>C (p.Arg30826Pro) c.89819G>C (p.Arg29940Pro) c.89738G>C (p.Arg29913Pro) c.71501G>C (p.Arg23834Pro) c.61355G>C (p.Arg20452Pro) | ClinVar dbSNP |
| 2 | g.178539459C>T | CA1986349 | TTN,TTN-AS1 | c.90902G>A (p.Arg30301His) c.71987G>A (p.Arg23996His) c.71786G>A (p.Arg23929His) c.71411G>A (p.Arg23804His) c.98606G>A (p.Arg32869His) c.93683G>A (p.Arg31228His) n.446+15823C>T n.1409C>T c.97703G>A (p.Arg32568His) c.71597G>A (p.Arg23866His) c.71456G>A (p.Arg23819His) c.97499G>A (p.Arg32500His) c.92897G>A (p.Arg30966His) c.92894G>A (p.Arg30965His) c.89936G>A (p.Arg29979His) c.71552G>A (p.Arg23851His) c.93047G>A (p.Arg31016His) c.93044G>A (p.Arg31015His) c.92477G>A (p.Arg30826His) c.89819G>A (p.Arg29940His) c.89738G>A (p.Arg29913His) c.71501G>A (p.Arg23834His) c.61355G>A (p.Arg20452His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |