Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178559457C>TCA10581838TTN,TTN-AS1c.78971G>A (p.Trp26324Ter)
c.60056G>A (p.Trp20019Ter)
c.59855G>A (p.Trp19952Ter)
c.59480G>A (p.Trp19827Ter)
c.86675G>A (p.Trp28892Ter)
c.81752G>A (p.Trp27251Ter)
n.447-11843C>T
n.2043+17096C>T
c.85772G>A (p.Trp28591Ter)
c.59666G>A (p.Trp19889Ter)
c.59525G>A (p.Trp19842Ter)
c.85568G>A (p.Trp28523Ter)
c.80966G>A (p.Trp26989Ter)
c.80963G>A (p.Trp26988Ter)
c.78005G>A (p.Trp26002Ter)
c.59621G>A (p.Trp19874Ter)
c.81116G>A (p.Trp27039Ter)
c.81113G>A (p.Trp27038Ter)
c.80546G>A (p.Trp26849Ter)
c.77888G>A (p.Trp25963Ter)
c.77807G>A (p.Trp25936Ter)
c.59570G>A (p.Trp19857Ter)
c.49424G>A (p.Trp16475Ter)
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178559457C>GCA1988456TTN,TTN-AS1c.78971G>C (p.Trp26324Ser)
c.60056G>C (p.Trp20019Ser)
c.59855G>C (p.Trp19952Ser)
c.59480G>C (p.Trp19827Ser)
c.86675G>C (p.Trp28892Ser)
c.81752G>C (p.Trp27251Ser)
n.447-11843C>G
n.2043+17096C>G
c.85772G>C (p.Trp28591Ser)
c.59666G>C (p.Trp19889Ser)
c.59525G>C (p.Trp19842Ser)
c.85568G>C (p.Trp28523Ser)
c.80966G>C (p.Trp26989Ser)
c.80963G>C (p.Trp26988Ser)
c.78005G>C (p.Trp26002Ser)
c.59621G>C (p.Trp19874Ser)
c.81116G>C (p.Trp27039Ser)
c.81113G>C (p.Trp27038Ser)
c.80546G>C (p.Trp26849Ser)
c.77888G>C (p.Trp25963Ser)
c.77807G>C (p.Trp25936Ser)
c.59570G>C (p.Trp19857Ser)
c.49424G>C (p.Trp16475Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched