| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127682500A>G | CA16605477 | STXBP1 | c.1600A>G (p.Asn534Asp) c.1587A>G (n.1587A>G) c.1642A>G (p.Asn548Asp) c.*597A>G (n.*597A>G) c.*1284A>G (n.*1284A>G) c.*2506A>G (n.*2506A>G) c.1584A>G c.190A>G (p.Asn64Asp) n.1478A>G n.234A>G c.1633A>G (p.Asn545Asp) c.1534A>G (p.Asn512Asp) | ClinVar dbSNP |
| 9 | g.127682500A>C | CA374939407 | STXBP1 | c.1600A>C (p.Asn534His) c.1587A>C (n.1587A>C) c.1642A>C (p.Asn548His) c.*597A>C (n.*597A>C) c.*1284A>C (n.*1284A>C) c.*2506A>C (n.*2506A>C) c.1584A>C c.190A>C (p.Asn64His) n.1478A>C n.234A>C c.1633A>C (p.Asn545His) c.1534A>C (p.Asn512His) | ClinVar dbSNP |
| 9 | g.127682500A= | CA1879887639 | STXBP1 | c.1600A= (p.Asn534=) c.1587A= (n.1587A=) c.1642A= (p.Asn548=) c.*597A= (n.*597A=) c.*1284A= (n.*1284A=) c.*2506A= (n.*2506A=) c.1584A= c.190A= (p.Asn64=) n.1478A= n.234A= c.1633A= (p.Asn545=) c.1534A= (p.Asn512=) | dbSNP |