Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99875510T>C | CA4825354 | COX6C,VPS13B | c.*1567T>C (n.*1567T>C) n.12543T>C c.*7595T>C (n.*7595T>C) c.11838T>C (p.Cys3946=) c.11913T>C (p.Cys3971=) n.1415T>C c.*142-418A>G (n.*142-418A>G) c.*142-2217A>G (n.*142-2217A>G) c.11910T>C (p.Cys3970=) c.11835T>C (p.Cys3945=) c.11535T>C (p.Cys3845=) c.8799T>C (p.Cys2933=) c.7692T>C (p.Cys2564=) c.11718T>C (p.Cys3906=) c.7470T>C (p.Cys2490=) c.10698T>C (p.Cys3566=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99875510T>G | CA371795697 | COX6C,VPS13B | c.*1567T>G (n.*1567T>G) n.12543T>G c.*7595T>G (n.*7595T>G) c.11838T>G (p.Cys3946Trp) c.11913T>G (p.Cys3971Trp) n.1415T>G c.*142-418A>C (n.*142-418A>C) c.*142-2217A>C (n.*142-2217A>C) c.11910T>G (p.Cys3970Trp) c.11835T>G (p.Cys3945Trp) c.11535T>G (p.Cys3845Trp) c.8799T>G (p.Cys2933Trp) c.7692T>G (p.Cys2564Trp) c.11718T>G (p.Cys3906Trp) c.7470T>G (p.Cys2490Trp) c.10698T>G (p.Cys3566Trp) | dbSNP gnomAD v4 |
8 | g.99875510T>A | CA16041281 | COX6C,VPS13B | c.*1567T>A (n.*1567T>A) n.12543T>A c.*7595T>A (n.*7595T>A) c.11838T>A (p.Cys3946Ter) c.11913T>A (p.Cys3971Ter) n.1415T>A c.*142-418A>T (n.*142-418A>T) c.*142-2217A>T (n.*142-2217A>T) c.11910T>A (p.Cys3970Ter) c.11835T>A (p.Cys3945Ter) c.11535T>A (p.Cys3845Ter) c.8799T>A (p.Cys2933Ter) c.7692T>A (p.Cys2564Ter) c.11718T>A (p.Cys3906Ter) c.7470T>A (p.Cys2490Ter) c.10698T>A (p.Cys3566Ter) | ClinVar dbSNP |