| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178531962G>A | CA16042411 | TTN,TTN-AS1 | c.96949C>T (p.Arg32317Ter) c.78034C>T (p.Arg26012Ter) c.77833C>T (p.Arg25945Ter) c.77458C>T (p.Arg25820Ter) c.104653C>T (p.Arg34885Ter) c.99730C>T (p.Arg33244Ter) n.446+8326G>A n.220-3770G>A c.103750C>T (p.Arg34584Ter) c.77644C>T (p.Arg25882Ter) c.77503C>T (p.Arg25835Ter) c.103546C>T (p.Arg34516Ter) c.98944C>T (p.Arg32982Ter) c.98941C>T (p.Arg32981Ter) c.95983C>T (p.Arg31995Ter) c.77599C>T (p.Arg25867Ter) c.99094C>T (p.Arg33032Ter) c.99091C>T (p.Arg33031Ter) c.98524C>T (p.Arg32842Ter) c.95866C>T (p.Arg31956Ter) c.95785C>T (p.Arg31929Ter) c.77548C>T (p.Arg25850Ter) c.67402C>T (p.Arg22468Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178531962G= | CA1310518010 | TTN,TTN-AS1 | c.96949C= (p.Arg32317=) c.78034C= (p.Arg26012=) c.77833C= (p.Arg25945=) c.77458C= (p.Arg25820=) c.104653C= (p.Arg34885=) c.99730C= (p.Arg33244=) n.446+8326G= n.220-3770G= c.103750C= (p.Arg34584=) c.77644C= (p.Arg25882=) c.77503C= (p.Arg25835=) c.103546C= (p.Arg34516=) c.98944C= (p.Arg32982=) c.98941C= (p.Arg32981=) c.95983C= (p.Arg31995=) c.77599C= (p.Arg25867=) c.99094C= (p.Arg33032=) c.99091C= (p.Arg33031=) c.98524C= (p.Arg32842=) c.95866C= (p.Arg31956=) c.95785C= (p.Arg31929=) c.77548C= (p.Arg25850=) c.67402C= (p.Arg22468=) | dbSNP |