| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89935296G>A | CA397475540 | TUBB3 | c.845G>A (p.Arg282Gln) n.4266G>A c.629G>A (p.Arg210Gln) c.277+1718G>A (n.277+1718G>A) c.*930G>A (n.*930G>A) c.1886G>A (p.Arg629Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.89935296G>C | CA16620315 | TUBB3 | c.845G>C (p.Arg282Pro) n.4266G>C c.629G>C (p.Arg210Pro) c.277+1718G>C (n.277+1718G>C) c.*930G>C (n.*930G>C) c.1886G>C (p.Arg629Pro) | ClinVar dbSNP |