| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178605642C>A | CA273273 | TTN,TTN-AS1 | c.45949G>T (p.Glu15317Ter) c.27034G>T (p.Glu9012Ter) c.26833G>T (p.Glu8945Ter) c.26458G>T (p.Glu8820Ter) c.53653G>T (p.Glu17885Ter) c.48730G>T (p.Glu16244Ter) n.683-2525C>A c.52750G>T (p.Glu17584Ter) c.26644G>T (p.Glu8882Ter) c.26503G>T (p.Glu8835Ter) c.52546G>T (p.Glu17516Ter) c.47944G>T (p.Glu15982Ter) c.47941G>T (p.Glu15981Ter) c.44983G>T (p.Glu14995Ter) c.26599G>T (p.Glu8867Ter) c.48094G>T (p.Glu16032Ter) c.48091G>T (p.Glu16031Ter) c.47524G>T (p.Glu15842Ter) c.44866G>T (p.Glu14956Ter) c.44785G>T (p.Glu14929Ter) c.26548G>T (p.Glu8850Ter) c.16402G>T (p.Glu5468Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178605642C= | CA1310545775 | TTN,TTN-AS1 | c.45949G= (p.Glu15317=) c.27034G= (p.Glu9012=) c.26833G= (p.Glu8945=) c.26458G= (p.Glu8820=) c.53653G= (p.Glu17885=) c.48730G= (p.Glu16244=) n.683-2525C= c.52750G= (p.Glu17584=) c.26644G= (p.Glu8882=) c.26503G= (p.Glu8835=) c.52546G= (p.Glu17516=) c.47944G= (p.Glu15982=) c.47941G= (p.Glu15981=) c.44983G= (p.Glu14995=) c.26599G= (p.Glu8867=) c.48094G= (p.Glu16032=) c.48091G= (p.Glu16031=) c.47524G= (p.Glu15842=) c.44866G= (p.Glu14956=) c.44785G= (p.Glu14929=) c.26548G= (p.Glu8850=) c.16402G= (p.Glu5468=) | dbSNP |
| 2 | g.178605642C>G | CA349562053 | TTN,TTN-AS1 | c.45949G>C (p.Glu15317Gln) c.27034G>C (p.Glu9012Gln) c.26833G>C (p.Glu8945Gln) c.26458G>C (p.Glu8820Gln) c.53653G>C (p.Glu17885Gln) c.48730G>C (p.Glu16244Gln) n.683-2525C>G c.52750G>C (p.Glu17584Gln) c.26644G>C (p.Glu8882Gln) c.26503G>C (p.Glu8835Gln) c.52546G>C (p.Glu17516Gln) c.47944G>C (p.Glu15982Gln) c.47941G>C (p.Glu15981Gln) c.44983G>C (p.Glu14995Gln) c.26599G>C (p.Glu8867Gln) c.48094G>C (p.Glu16032Gln) c.48091G>C (p.Glu16031Gln) c.47524G>C (p.Glu15842Gln) c.44866G>C (p.Glu14956Gln) c.44785G>C (p.Glu14929Gln) c.26548G>C (p.Glu8850Gln) c.16402G>C (p.Glu5468Gln) | dbSNP gnomAD v4 |