Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178559457C>T | CA10581838 | TTN,TTN-AS1 | c.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 |
2 | g.178559457C>G | CA1988456 | TTN,TTN-AS1 | c.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 |