| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178528797G>A | CA351280 | TTN,TTN-AS1 | c.99250C>T (p.Arg33084Ter) c.80335C>T (p.Arg26779Ter) c.80134C>T (p.Arg26712Ter) c.79759C>T (p.Arg26587Ter) c.106954C>T (p.Arg35652Ter) c.102031C>T (p.Arg34011Ter) n.446+5161G>A n.219+5161G>A c.106051C>T (p.Arg35351Ter) c.79945C>T (p.Arg26649Ter) c.79804C>T (p.Arg26602Ter) c.105847C>T (p.Arg35283Ter) c.101245C>T (p.Arg33749Ter) c.101242C>T (p.Arg33748Ter) c.98284C>T (p.Arg32762Ter) c.79900C>T (p.Arg26634Ter) c.101395C>T (p.Arg33799Ter) c.101392C>T (p.Arg33798Ter) c.100825C>T (p.Arg33609Ter) c.98167C>T (p.Arg32723Ter) c.98086C>T (p.Arg32696Ter) c.79849C>T (p.Arg26617Ter) c.69703C>T (p.Arg23235Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178528797G>C | CA349402467 | TTN,TTN-AS1 | c.99250C>G (p.Arg33084Gly) c.80335C>G (p.Arg26779Gly) c.80134C>G (p.Arg26712Gly) c.79759C>G (p.Arg26587Gly) c.106954C>G (p.Arg35652Gly) c.102031C>G (p.Arg34011Gly) n.446+5161G>C n.219+5161G>C c.106051C>G (p.Arg35351Gly) c.79945C>G (p.Arg26649Gly) c.79804C>G (p.Arg26602Gly) c.105847C>G (p.Arg35283Gly) c.101245C>G (p.Arg33749Gly) c.101242C>G (p.Arg33748Gly) c.98284C>G (p.Arg32762Gly) c.79900C>G (p.Arg26634Gly) c.101395C>G (p.Arg33799Gly) c.101392C>G (p.Arg33798Gly) c.100825C>G (p.Arg33609Gly) c.98167C>G (p.Arg32723Gly) c.98086C>G (p.Arg32696Gly) c.79849C>G (p.Arg26617Gly) c.69703C>G (p.Arg23235Gly) | dbSNP gnomAD v2 gnomAD v4 |