| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10324838C>T | CA116990 | KIF1B | c.2480C>T (p.Thr827Ile) c.2543C>T (p.Thr848Ile) c.2618C>T (p.Thr873Ile) c.2576C>T (p.Thr859Ile) c.2540C>T (p.Thr847Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10324838C= | CA1141580568 | KIF1B | c.2480C= (p.Thr827=) c.2543C= (p.Thr848=) c.2618C= (p.Thr873=) c.2576C= (p.Thr859=) c.2540C= (p.Thr847=) | dbSNP |