| 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 |
| 17 | g.44908128G>C | CA399839098 | GFAP | c.1313C>G (p.Ser438Cys) n.46C>G n.346C>G c.128C>G (p.Ser43Cys) c.1193C>G (p.Ser398Cys) n.2100C>G c.292C>G n.561C>G c.112C>G c.28C>G n.657C>G c.848C>G (p.Ser283Cys) n.120C>G c.165C>G c.43C>G c.7C>G c.164C>G (p.Ser55Cys) c.83-12C>G (n.83-12C>G) n.95C>G c.59C>G (p.Ser20Cys) n.65C>G c.1517C>G (p.Ser506Cys) c.1397C>G (p.Ser466Cys) | dbSNP gnomAD v4 COSMIC |
| 17 | g.44908128G= | CA2261610249 | GFAP | c.1313C= (p.Ser438=) n.46C= n.346C= c.128C= (p.Ser43=) c.1193C= (p.Ser398=) n.2100C= c.292C= n.561C= c.112C= c.28C= n.657C= c.848C= (p.Ser283=) n.120C= c.165C= c.43C= c.7C= c.164C= (p.Ser55=) c.83-12C= (n.83-12C=) n.95C= c.59C= (p.Ser20=) n.65C= c.1517C= (p.Ser506=) c.1397C= (p.Ser466=) | dbSNP |