| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40611486A>G | CA152172 | KNL1 | c.259A>G (p.Thr87Ala) c.337A>G (p.Thr113Ala) n.404A>G c.115+5054A>G (n.115+5054A>G) n.628A>G c.-41+1189A>G (n.-41+1189A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40611486A>T | CA391721006 | KNL1 | c.259A>T (p.Thr87Ser) c.337A>T (p.Thr113Ser) n.404A>T c.115+5054A>T (n.115+5054A>T) n.628A>T c.-41+1189A>T (n.-41+1189A>T) | dbSNP gnomAD v4 |