| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.143438337C>T | CA3090524 | GAB1 | c.932C>T (p.Pro311Leu) c.623C>T (p.Pro208Leu) n.81C>T c.226+4621C>T c.1013C>T (p.Pro338Leu) c.704C>T (p.Pro235Leu) c.974C>T (p.Pro325Leu) c.962C>T (p.Pro321Leu) c.893C>T (p.Pro298Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.143438337C= | CA1500170810 | GAB1 | c.932C= (p.Pro311=) c.623C= (p.Pro208=) n.81C= c.226+4621C= c.1013C= (p.Pro338=) c.704C= (p.Pro235=) c.974C= (p.Pro325=) c.962C= (p.Pro321=) c.893C= (p.Pro298=) | dbSNP |