| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127666250C>T | CA16618740 | STXBP1 | c.706C>T (p.Gln236Ter) c.748C>T (p.Gln250Ter) c.*390C>T (n.*390C>T) c.*1612C>T (n.*1612C>T) c.690C>T n.584C>T c.739C>T (p.Gln247Ter) | ClinVar dbSNP |
| 9 | g.127666250C>G | CA374934084 | STXBP1 | c.706C>G (p.Gln236Glu) c.748C>G (p.Gln250Glu) c.*390C>G (n.*390C>G) c.*1612C>G (n.*1612C>G) c.690C>G n.584C>G c.739C>G (p.Gln247Glu) | ClinVar dbSNP |
| 9 | g.127666250C= | CA1879911680 | STXBP1 | c.706C= (p.Gln236=) c.748C= (p.Gln250=) c.*390C= (n.*390C=) c.*1612C= (n.*1612C=) c.690C= n.584C= c.739C= (p.Gln247=) | dbSNP |
| 9 | g.127666250C>A | CA374934082 | STXBP1 | c.706C>A (p.Gln236Lys) c.748C>A (p.Gln250Lys) c.*390C>A (n.*390C>A) c.*1612C>A (n.*1612C>A) c.690C>A n.584C>A c.739C>A (p.Gln247Lys) | ClinVar dbSNP |