Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44910632G>C | CA347231 | GFAP | c.1154C>G (p.Ser385Cys) n.307C>G c.89C>G (p.Ser30Cys) n.2308C>G c.84C>G c.731C>G (p.Ser244Cys) c.73C>G n.95C>G c.809C>G (p.Ser270Cys) c.91C>G c.4C>G c.327C>G n.1168C>G c.5C>G (p.Ser2Cys) n.534C>G c.83-2516C>G (n.83-2516C>G) c.20C>G (p.Ser7Cys) c.1358C>G (p.Ser453Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.44910632G>A | CA347230 | GFAP | c.1154C>T (p.Ser385Phe) n.307C>T c.89C>T (p.Ser30Phe) n.2308C>T c.84C>T c.731C>T (p.Ser244Phe) c.73C>T n.95C>T c.809C>T (p.Ser270Phe) c.91C>T c.4C>T c.327C>T n.1168C>T c.5C>T (p.Ser2Phe) n.534C>T c.83-2516C>T (n.83-2516C>T) c.20C>T (p.Ser7Phe) c.1358C>T (p.Ser453Phe) | ClinVar dbSNP gnomAD v4 |