| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178608330C>T | CA236095 | TTN,TTN-AS1 | c.44849G>A (p.Arg14950His) c.25934G>A (p.Arg8645His) c.25733G>A (p.Arg8578His) c.25358G>A (p.Arg8453His) c.52553G>A (p.Arg17518His) c.47630G>A (p.Arg15877His) n.782+64C>T c.51650G>A (p.Arg17217His) c.25544G>A (p.Arg8515His) c.25403G>A (p.Arg8468His) c.51446G>A (p.Arg17149His) c.46844G>A (p.Arg15615His) c.46841G>A (p.Arg15614His) c.43883G>A (p.Arg14628His) c.25499G>A (p.Arg8500His) c.46994G>A (p.Arg15665His) c.46991G>A (p.Arg15664His) c.46424G>A (p.Arg15475His) c.43766G>A (p.Arg14589His) c.43685G>A (p.Arg14562His) c.25448G>A (p.Arg8483His) c.15302G>A (p.Arg5101His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178608330C>G | CA60982807 | TTN,TTN-AS1 | c.44849G>C (p.Arg14950Pro) c.25934G>C (p.Arg8645Pro) c.25733G>C (p.Arg8578Pro) c.25358G>C (p.Arg8453Pro) c.52553G>C (p.Arg17518Pro) c.47630G>C (p.Arg15877Pro) n.782+64C>G c.51650G>C (p.Arg17217Pro) c.25544G>C (p.Arg8515Pro) c.25403G>C (p.Arg8468Pro) c.51446G>C (p.Arg17149Pro) c.46844G>C (p.Arg15615Pro) c.46841G>C (p.Arg15614Pro) c.43883G>C (p.Arg14628Pro) c.25499G>C (p.Arg8500Pro) c.46994G>C (p.Arg15665Pro) c.46991G>C (p.Arg15664Pro) c.46424G>C (p.Arg15475Pro) c.43766G>C (p.Arg14589Pro) c.43685G>C (p.Arg14562Pro) c.25448G>C (p.Arg8483Pro) c.15302G>C (p.Arg5101Pro) | dbSNP gnomAD v4 |