| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44908128G>T | CA217138 | GFAP | c.1313C>A (p.Ser438Tyr) n.46C>A n.346C>A c.128C>A (p.Ser43Tyr) c.1193C>A (p.Ser398Tyr) n.2100C>A c.292C>A n.561C>A c.112C>A c.28C>A n.657C>A c.848C>A (p.Ser283Tyr) n.120C>A c.165C>A c.43C>A c.7C>A c.164C>A (p.Ser55Tyr) c.83-12C>A (n.83-12C>A) n.95C>A c.59C>A (p.Ser20Tyr) n.65C>A c.1517C>A (p.Ser506Tyr) c.1397C>A (p.Ser466Tyr) | ClinVar dbSNP |
| 17 | g.44908128G>A | CA347233 | GFAP | c.1313C>T (p.Ser438Phe) n.46C>T n.346C>T c.128C>T (p.Ser43Phe) c.1193C>T (p.Ser398Phe) n.2100C>T c.292C>T n.561C>T c.112C>T c.28C>T n.657C>T c.848C>T (p.Ser283Phe) n.120C>T c.165C>T c.43C>T c.7C>T c.164C>T (p.Ser55Phe) c.83-12C>T (n.83-12C>T) n.95C>T c.59C>T (p.Ser20Phe) n.65C>T c.1517C>T (p.Ser506Phe) c.1397C>T (p.Ser466Phe) | ClinVar dbSNP |