Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178546110G>T | CA10604437 | TTN,TTN-AS1 | c.87422C>A (p.Pro29141His) c.68507C>A (p.Pro22836His) c.68306C>A (p.Pro22769His) c.67931C>A (p.Pro22644His) c.95126C>A (p.Pro31709His) c.90203C>A (p.Pro30068His) n.446+22474G>T n.2043+3749G>T c.94223C>A (p.Pro31408His) c.68117C>A (p.Pro22706His) c.67976C>A (p.Pro22659His) c.94019C>A (p.Pro31340His) c.89417C>A (p.Pro29806His) c.89414C>A (p.Pro29805His) c.86456C>A (p.Pro28819His) c.68072C>A (p.Pro22691His) c.89567C>A (p.Pro29856His) c.89564C>A (p.Pro29855His) c.88997C>A (p.Pro29666His) c.86339C>A (p.Pro28780His) c.86258C>A (p.Pro28753His) c.68021C>A (p.Pro22674His) c.57875C>A (p.Pro19292His) | ClinVar dbSNP |
2 | g.178546110G>C | CA358818 | TTN,TTN-AS1 | c.87422C>G (p.Pro29141Arg) c.68507C>G (p.Pro22836Arg) c.68306C>G (p.Pro22769Arg) c.67931C>G (p.Pro22644Arg) c.95126C>G (p.Pro31709Arg) c.90203C>G (p.Pro30068Arg) n.446+22474G>C n.2043+3749G>C c.94223C>G (p.Pro31408Arg) c.68117C>G (p.Pro22706Arg) c.67976C>G (p.Pro22659Arg) c.94019C>G (p.Pro31340Arg) c.89417C>G (p.Pro29806Arg) c.89414C>G (p.Pro29805Arg) c.86456C>G (p.Pro28819Arg) c.68072C>G (p.Pro22691Arg) c.89567C>G (p.Pro29856Arg) c.89564C>G (p.Pro29855Arg) c.88997C>G (p.Pro29666Arg) c.86339C>G (p.Pro28780Arg) c.86258C>G (p.Pro28753Arg) c.68021C>G (p.Pro22674Arg) c.57875C>G (p.Pro19292Arg) | ClinVar dbSNP |