| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178604051A>G | CA16610415 | TTN,TTN-AS1 | c.46932T>C (p.Tyr15644=) c.28017T>C (p.Tyr9339=) c.27816T>C (p.Tyr9272=) c.27441T>C (p.Tyr9147=) c.54636T>C (p.Tyr18212=) c.49713T>C (p.Tyr16571=) n.683-4116A>G n.3918-680A>G c.53733T>C (p.Tyr17911=) c.27627T>C (p.Tyr9209=) c.27486T>C (p.Tyr9162=) c.53529T>C (p.Tyr17843=) c.48927T>C (p.Tyr16309=) c.48924T>C (p.Tyr16308=) c.45966T>C (p.Tyr15322=) c.27582T>C (p.Tyr9194=) c.49077T>C (p.Tyr16359=) c.49074T>C (p.Tyr16358=) c.48507T>C (p.Tyr16169=) c.45849T>C (p.Tyr15283=) c.45768T>C (p.Tyr15256=) c.27531T>C (p.Tyr9177=) c.17385T>C (p.Tyr5795=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178604051A>C | CA261876 | TTN,TTN-AS1 | c.46932T>G (p.Tyr15644Ter) c.28017T>G (p.Tyr9339Ter) c.27816T>G (p.Tyr9272Ter) c.27441T>G (p.Tyr9147Ter) c.54636T>G (p.Tyr18212Ter) c.49713T>G (p.Tyr16571Ter) n.683-4116A>C n.3918-680A>C c.53733T>G (p.Tyr17911Ter) c.27627T>G (p.Tyr9209Ter) c.27486T>G (p.Tyr9162Ter) c.53529T>G (p.Tyr17843Ter) c.48927T>G (p.Tyr16309Ter) c.48924T>G (p.Tyr16308Ter) c.45966T>G (p.Tyr15322Ter) c.27582T>G (p.Tyr9194Ter) c.49077T>G (p.Tyr16359Ter) c.49074T>G (p.Tyr16358Ter) c.48507T>G (p.Tyr16169Ter) c.45849T>G (p.Tyr15283Ter) c.45768T>G (p.Tyr15256Ter) c.27531T>G (p.Tyr9177Ter) c.17385T>G (p.Tyr5795Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178604051A= | CA1310545140 | TTN,TTN-AS1 | c.46932T= (p.Tyr15644=) c.28017T= (p.Tyr9339=) c.27816T= (p.Tyr9272=) c.27441T= (p.Tyr9147=) c.54636T= (p.Tyr18212=) c.49713T= (p.Tyr16571=) n.683-4116A= n.3918-680A= c.53733T= (p.Tyr17911=) c.27627T= (p.Tyr9209=) c.27486T= (p.Tyr9162=) c.53529T= (p.Tyr17843=) c.48927T= (p.Tyr16309=) c.48924T= (p.Tyr16308=) c.45966T= (p.Tyr15322=) c.27582T= (p.Tyr9194=) c.49077T= (p.Tyr16359=) c.49074T= (p.Tyr16358=) c.48507T= (p.Tyr16169=) c.45849T= (p.Tyr15283=) c.45768T= (p.Tyr15256=) c.27531T= (p.Tyr9177=) c.17385T= (p.Tyr5795=) | dbSNP |