| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10361732T>C | CA233113 | KIF1B | c.4274T>C (p.Val1425Ala) c.4136T>C (p.Val1379Ala) c.4211T>C (p.Val1404Ala) c.4073T>C (p.Val1358Ala) n.666T>C n.747T>C c.4169T>C (p.Val1390Ala) c.4133T>C (p.Val1378Ala) c.256T>C n.356-266A>G n.231-266A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10361732T= | CA1143425089 | KIF1B | c.4274T= (p.Val1425=) c.4136T= (p.Val1379=) c.4211T= (p.Val1404=) c.4073T= (p.Val1358=) n.666T= n.747T= c.4169T= (p.Val1390=) c.4133T= (p.Val1378=) c.256T= n.356-266A= n.231-266A= | dbSNP |