| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178609941G>A | CA283393 | TTN,TTN-AS1 | c.43778C>T (p.Ala14593Val) c.24863C>T (p.Ala8288Val) c.24662C>T (p.Ala8221Val) c.24287C>T (p.Ala8096Val) c.51482C>T (p.Ala17161Val) c.46559C>T (p.Ala15520Val) n.782+1675G>A c.50579C>T (p.Ala16860Val) c.24473C>T (p.Ala8158Val) c.24332C>T (p.Ala8111Val) c.50375C>T (p.Ala16792Val) c.45773C>T (p.Ala15258Val) c.45770C>T (p.Ala15257Val) c.42812C>T (p.Ala14271Val) c.24428C>T (p.Ala8143Val) c.45923C>T (p.Ala15308Val) c.45920C>T (p.Ala15307Val) c.45353C>T (p.Ala15118Val) c.42695C>T (p.Ala14232Val) c.42614C>T (p.Ala14205Val) c.24377C>T (p.Ala8126Val) c.14231C>T (p.Ala4744Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178609941G= | CA1310547547 | TTN,TTN-AS1 | c.43778C= (p.Ala14593=) c.24863C= (p.Ala8288=) c.24662C= (p.Ala8221=) c.24287C= (p.Ala8096=) c.51482C= (p.Ala17161=) c.46559C= (p.Ala15520=) n.782+1675G= c.50579C= (p.Ala16860=) c.24473C= (p.Ala8158=) c.24332C= (p.Ala8111=) c.50375C= (p.Ala16792=) c.45773C= (p.Ala15258=) c.45770C= (p.Ala15257=) c.42812C= (p.Ala14271=) c.24428C= (p.Ala8143=) c.45923C= (p.Ala15308=) c.45920C= (p.Ala15307=) c.45353C= (p.Ala15118=) c.42695C= (p.Ala14232=) c.42614C= (p.Ala14205=) c.24377C= (p.Ala8126=) c.14231C= (p.Ala4744=) | dbSNP |