| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127660048del | CA16612695 | STXBP1 | c.223del (p.Ser75ValfsTer?) c.265del (p.Ser89ValfsTer?) c.288del (p.Val97Ter) c.*1129del (n.*1129del) c.207del c.154del (p.Ser52ValfsTer?) c.265del (p.Ser89ValfsTer28) | ClinVar dbSNP |
| 9 | g.127660048A= | CA3165921476 | STXBP1 | c.223A= (p.Ser75=) c.265A= (p.Ser89=) c.288A= (p.Ser96=) c.*1129A= (n.*1129A=) c.207A= c.154A= (p.Ser52=) | dbSNP |