| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.11031230C>G | CA351791465 | SLC6A1 | c.1449C>G (p.Ser483Arg) c.1377C>G (p.Ser459Arg) c.1017C>G (p.Ser339Arg) c.1404C>G (p.Ser468Arg) c.843C>G (p.Ser281Arg) c.*760C>G (n.*760C>G) c.1171C>G c.954C>G (p.Ser318Arg) n.430C>G n.3745C>G c.1078+4871C>G (n.1078+4871C>G) | ClinVar dbSNP |
| 3 | g.11031230C>A | CA16617801 | SLC6A1 | c.1449C>A (p.Ser483Arg) c.1377C>A (p.Ser459Arg) c.1017C>A (p.Ser339Arg) c.1404C>A (p.Ser468Arg) c.843C>A (p.Ser281Arg) c.*760C>A (n.*760C>A) c.1171C>A c.954C>A (p.Ser318Arg) n.430C>A n.3745C>A c.1078+4871C>A (n.1078+4871C>A) | ClinVar dbSNP |
| 3 | g.11031230C= | CA1345477238 | SLC6A1 | c.1449C= (p.Ser483=) c.1377C= (p.Ser459=) c.1017C= (p.Ser339=) c.1404C= (p.Ser468=) c.843C= (p.Ser281=) c.*760C= (n.*760C=) c.1171C= c.954C= (p.Ser318=) n.430C= n.3745C= c.1078+4871C= (n.1078+4871C=) | dbSNP |
| 3 | g.11031230C>T | CA432446657 | SLC6A1 | c.1449C>T (p.Ser483=) c.1377C>T (p.Ser459=) c.1017C>T (p.Ser339=) c.1404C>T (p.Ser468=) c.843C>T (p.Ser281=) c.*760C>T (n.*760C>T) c.1171C>T c.954C>T (p.Ser318=) n.430C>T n.3745C>T c.1078+4871C>T (n.1078+4871C>T) | dbSNP gnomAD v4 |