| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127675855C>T | CA118456 | STXBP1 | c.1120C>T (p.Arg374Ter) c.1162C>T (p.Arg388Ter) c.*117C>T (n.*117C>T) c.*804C>T (n.*804C>T) c.*2026C>T (n.*2026C>T) c.1104C>T n.998C>T c.1153C>T (p.Arg385Ter) c.1054C>T (p.Arg352Ter) | ClinVar dbSNP |
| 9 | g.127675855C= | CA1879919687 | STXBP1 | c.1120C= (p.Arg374=) c.1162C= (p.Arg388=) c.*117C= (n.*117C=) c.*804C= (n.*804C=) c.*2026C= (n.*2026C=) c.1104C= n.998C= c.1153C= (p.Arg385=) c.1054C= (p.Arg352=) | dbSNP |