Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178576614G>TCA089618TTN,TTN-AS1c.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
2g.178576614G>ACA1990912TTN,TTN-AS1c.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

Number of alleles fetched