| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40622633C>G | CA152166 | KNL1 | c.2369C>G (p.Thr790Ser) c.2447C>G (p.Thr816Ser) n.2514C>G c.116-6691C>G (n.116-6691C>G) n.2685C>G c.2045C>G (p.Thr682Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40622633C>A | CA391739880 | KNL1 | c.2369C>A (p.Thr790Asn) c.2447C>A (p.Thr816Asn) n.2514C>A c.116-6691C>A (n.116-6691C>A) n.2685C>A c.2045C>A (p.Thr682Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |