| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219250552C>T | CA185904 | TUBA4A | c.1147G>A (p.Ala383Thr) c.1102G>A (p.Ala368Thr) c.688G>A (p.Ala230Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.219250552C= | CA1329130998 | TUBA4A | c.1147G= (p.Ala383=) c.1102G= (p.Ala368=) c.688G= (p.Ala230=) | dbSNP |