Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178576614G>T | CA089618 | TTN,TTN-AS1 | c.61926C>A (p.Tyr20642Ter) c.43011C>A (p.Tyr14337Ter) c.42810C>A (p.Tyr14270Ter) c.42435C>A (p.Tyr14145Ter) c.69630C>A (p.Tyr23210Ter) c.64707C>A (p.Tyr21569Ter) n.596+5165G>T n.2044-5958G>T c.68727C>A (p.Tyr22909Ter) c.42621C>A (p.Tyr14207Ter) c.42480C>A (p.Tyr14160Ter) c.68523C>A (p.Tyr22841Ter) c.63921C>A (p.Tyr21307Ter) c.63918C>A (p.Tyr21306Ter) c.60960C>A (p.Tyr20320Ter) c.42576C>A (p.Tyr14192Ter) c.64071C>A (p.Tyr21357Ter) c.64068C>A (p.Tyr21356Ter) c.63501C>A (p.Tyr21167Ter) c.60843C>A (p.Tyr20281Ter) c.60762C>A (p.Tyr20254Ter) c.42525C>A (p.Tyr14175Ter) c.32379C>A (p.Tyr10793Ter) | ClinVar dbSNP |
2 | g.178576614G>A | CA1990912 | TTN,TTN-AS1 | c.61926C>T (p.Tyr20642=) c.43011C>T (p.Tyr14337=) c.42810C>T (p.Tyr14270=) c.42435C>T (p.Tyr14145=) c.69630C>T (p.Tyr23210=) c.64707C>T (p.Tyr21569=) n.596+5165G>A n.2044-5958G>A c.68727C>T (p.Tyr22909=) c.42621C>T (p.Tyr14207=) c.42480C>T (p.Tyr14160=) c.68523C>T (p.Tyr22841=) c.63921C>T (p.Tyr21307=) c.63918C>T (p.Tyr21306=) c.60960C>T (p.Tyr20320=) c.42576C>T (p.Tyr14192=) c.64071C>T (p.Tyr21357=) c.64068C>T (p.Tyr21356=) c.63501C>T (p.Tyr21167=) c.60843C>T (p.Tyr20281=) c.60762C>T (p.Tyr20254=) c.42525C>T (p.Tyr14175=) c.32379C>T (p.Tyr10793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |