| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10365476G>A | CA116996 | KIF1B | c.4643G>A (p.Ser1548Asn) c.4505G>A (p.Ser1502Asn) c.4580G>A (p.Ser1527Asn) c.4442G>A (p.Ser1481Asn) n.311G>A c.4538G>A (p.Ser1513Asn) c.4502G>A (p.Ser1501Asn) c.625G>A n.355+905C>T n.230+905C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10365476G= | CA1141580572 | KIF1B | c.4643G= (p.Ser1548=) c.4505G= (p.Ser1502=) c.4580G= (p.Ser1527=) c.4442G= (p.Ser1481=) n.311G= c.4538G= (p.Ser1513=) c.4502G= (p.Ser1501=) c.625G= n.355+905C= n.230+905C= | dbSNP |