| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178563859G>A | CA16610279 | TTN,TTN-AS1 | c.74569C>T (p.Gln24857Ter) c.55654C>T (p.Gln18552Ter) c.55453C>T (p.Gln18485Ter) c.55078C>T (p.Gln18360Ter) c.82273C>T (p.Gln27425Ter) c.77350C>T (p.Gln25784Ter) n.447-7441G>A n.2044-18713G>A c.81370C>T (p.Gln27124Ter) c.55264C>T (p.Gln18422Ter) c.55123C>T (p.Gln18375Ter) c.81166C>T (p.Gln27056Ter) c.76564C>T (p.Gln25522Ter) c.76561C>T (p.Gln25521Ter) c.73603C>T (p.Gln24535Ter) c.55219C>T (p.Gln18407Ter) c.76714C>T (p.Gln25572Ter) c.76711C>T (p.Gln25571Ter) c.76144C>T (p.Gln25382Ter) c.73486C>T (p.Gln24496Ter) c.73405C>T (p.Gln24469Ter) c.55168C>T (p.Gln18390Ter) c.45022C>T (p.Gln15008Ter) | ClinVar dbSNP |
| 2 | g.178563859G= | CA1310528652 | TTN,TTN-AS1 | c.74569C= (p.Gln24857=) c.55654C= (p.Gln18552=) c.55453C= (p.Gln18485=) c.55078C= (p.Gln18360=) c.82273C= (p.Gln27425=) c.77350C= (p.Gln25784=) n.447-7441G= n.2044-18713G= c.81370C= (p.Gln27124=) c.55264C= (p.Gln18422=) c.55123C= (p.Gln18375=) c.81166C= (p.Gln27056=) c.76564C= (p.Gln25522=) c.76561C= (p.Gln25521=) c.73603C= (p.Gln24535=) c.55219C= (p.Gln18407=) c.76714C= (p.Gln25572=) c.76711C= (p.Gln25571=) c.76144C= (p.Gln25382=) c.73486C= (p.Gln24496=) c.73405C= (p.Gln24469=) c.55168C= (p.Gln18390=) c.45022C= (p.Gln15008=) | dbSNP |