| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228259C>T | CA250444 | SLC4A11 | c.2558G>A (p.Arg853His) c.2489G>A (p.Arg830His) c.2357G>A (p.Arg786His) c.2444G>A (p.Arg815His) c.2606G>A (p.Arg869His) c.2687G>A (p.Arg896His) c.*706G>A (n.*706G>A) c.2927G>A (p.Arg976His) c.2501G>A (p.Arg834His) c.2525G>A (p.Arg842His) n.2656G>A c.2921G>A (p.Arg974His) n.3101G>A n.3081G>A c.2573G>A (p.Arg858His) n.3066G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228259C>A | CA408084557 | SLC4A11 | c.2558G>T (p.Arg853Leu) c.2489G>T (p.Arg830Leu) c.2357G>T (p.Arg786Leu) c.2444G>T (p.Arg815Leu) c.2606G>T (p.Arg869Leu) c.2687G>T (p.Arg896Leu) c.*706G>T (n.*706G>T) c.2927G>T (p.Arg976Leu) c.2501G>T (p.Arg834Leu) c.2525G>T (p.Arg842Leu) n.2656G>T c.2921G>T (p.Arg974Leu) n.3101G>T n.3081G>T c.2573G>T (p.Arg858Leu) n.3066G>T | dbSNP gnomAD v4 |
| 20 | g.3228259C= | CA2346474908 | SLC4A11 | c.2558G= (p.Arg853=) c.2489G= (p.Arg830=) c.2357G= (p.Arg786=) c.2444G= (p.Arg815=) c.2606G= (p.Arg869=) c.2687G= (p.Arg896=) c.*706G= (n.*706G=) c.2927G= (p.Arg976=) c.2501G= (p.Arg834=) c.2525G= (p.Arg842=) n.2656G= c.2921G= (p.Arg974=) n.3101G= n.3081G= c.2573G= (p.Arg858=) n.3066G= | dbSNP |