| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.11025786C>T | CA200221 | SLC6A1 | c.935C>T (p.Ala312Val) c.863C>T (p.Ala288Val) n.4478C>T n.1254C>T c.503C>T (p.Ala168Val) c.329C>T (p.Ala110Val) c.*246C>T (n.*246C>T) n.695C>T c.672C>T c.440C>T (p.Ala147Val) n.3231C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.11025786C= | CA1345468890 | SLC6A1 | c.935C= (p.Ala312=) c.863C= (p.Ala288=) n.4478C= n.1254C= c.503C= (p.Ala168=) c.329C= (p.Ala110=) c.*246C= (n.*246C=) n.695C= c.672C= c.440C= (p.Ala147=) n.3231C= | dbSNP |