| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113293537C>T | CA204248 | ANK2 | c.2525C>T (p.Thr842Ile) c.2519C>T (p.Thr840Ile) n.3373C>T n.210C>T n.5800C>T n.2681C>T n.2610C>T n.2486C>T n.153C>T n.1550C>T n.200C>T n.1471C>T c.2474C>T (p.Thr825Ile) c.2411C>T (p.Thr804Ile) c.-41C>T (n.-41C>T) c.2387C>T (p.Thr796Ile) c.2312C>T (p.Thr771Ile) c.2390C>T (p.Thr797Ile) c.2189C>T (p.Thr730Ile) c.2288C>T (p.Thr763Ile) c.2375C>T (p.Thr792Ile) c.101C>T (p.Thr34Ile) c.1991C>T (p.Thr664Ile) c.2045C>T (p.Thr682Ile) c.2141C>T (p.Thr714Ile) n.178C>T c.2570C>T (p.Thr857Ile) c.2546C>T (p.Thr849Ile) c.2456C>T (p.Thr819Ile) c.2432C>T (p.Thr811Ile) c.2264C>T (p.Thr755Ile) c.2276C>T (p.Thr759Ile) c.2501C>T (p.Thr834Ile) c.2462C>T (p.Thr821Ile) c.2090C>T (p.Thr697Ile) c.2438C>T (p.Thr813Ile) | ClinVar dbSNP gnomAD v4 |
| 4 | g.113293537C= | CA3111826847 | ANK2 | c.2525C= (p.Thr842=) c.2519C= (p.Thr840=) n.3373C= n.210C= n.5800C= n.2681C= n.2610C= n.2486C= n.153C= n.1550C= n.200C= n.1471C= c.2474C= (p.Thr825=) c.2411C= (p.Thr804=) c.-41C= (n.-41C=) c.2387C= (p.Thr796=) c.2312C= (p.Thr771=) c.2390C= (p.Thr797=) c.2189C= (p.Thr730=) c.2288C= (p.Thr763=) c.2375C= (p.Thr792=) c.101C= (p.Thr34=) c.1991C= (p.Thr664=) c.2045C= (p.Thr682=) c.2141C= (p.Thr714=) n.178C= c.2570C= (p.Thr857=) c.2546C= (p.Thr849=) c.2456C= (p.Thr819=) c.2432C= (p.Thr811=) c.2264C= (p.Thr755=) c.2276C= (p.Thr759=) c.2501C= (p.Thr834=) c.2462C= (p.Thr821=) c.2090C= (p.Thr697=) c.2438C= (p.Thr813=) | dbSNP |