| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10345943C>T | CA116993 | KIF1B | c.3850C>T (p.Pro1284Ser) c.3712C>T (p.Pro1238Ser) c.3787C>T (p.Pro1263Ser) c.3649C>T (p.Pro1217Ser) n.242C>T n.323C>T c.3745C>T (p.Pro1249Ser) c.3709C>T (p.Pro1237Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10345943C= | CA1141580570 | KIF1B | c.3850C= (p.Pro1284=) c.3712C= (p.Pro1238=) c.3787C= (p.Pro1263=) c.3649C= (p.Pro1217=) n.242C= n.323C= c.3745C= (p.Pro1249=) c.3709C= (p.Pro1237=) | dbSNP |
| 1 | g.10345943C>A | CA338342572 | KIF1B | c.3850C>A (p.Pro1284Thr) c.3712C>A (p.Pro1238Thr) c.3787C>A (p.Pro1263Thr) c.3649C>A (p.Pro1217Thr) n.242C>A n.323C>A c.3745C>A (p.Pro1249Thr) c.3709C>A (p.Pro1237Thr) | dbSNP gnomAD v4 |