| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228260G>A | CA250442 | SLC4A11 | c.2557C>T (p.Arg853Cys) c.2488C>T (p.Arg830Cys) c.2356C>T (p.Arg786Cys) c.2443C>T (p.Arg815Cys) c.2605C>T (p.Arg869Cys) c.2686C>T (p.Arg896Cys) c.*705C>T (n.*705C>T) c.2926C>T (p.Arg976Cys) c.2500C>T (p.Arg834Cys) c.2524C>T (p.Arg842Cys) n.2655C>T c.2920C>T (p.Arg974Cys) n.3100C>T n.3080C>T c.2572C>T (p.Arg858Cys) n.3065C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228260G= | CA2346474909 | SLC4A11 | c.2557C= (p.Arg853=) c.2488C= (p.Arg830=) c.2356C= (p.Arg786=) c.2443C= (p.Arg815=) c.2605C= (p.Arg869=) c.2686C= (p.Arg896=) c.*705C= (n.*705C=) c.2926C= (p.Arg976=) c.2500C= (p.Arg834=) c.2524C= (p.Arg842=) n.2655C= c.2920C= (p.Arg974=) n.3100C= n.3080C= c.2572C= (p.Arg858=) n.3065C= | dbSNP |