| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240783079T>G | CA10584197 | KIF1A | c.829A>C (p.Thr277Pro) n.987A>C n.980A>C n.985A>C c.251A>C | ClinVar dbSNP |
| 2 | g.240783079T>C | CA351302589 | KIF1A | c.829A>G (p.Thr277Ala) n.987A>G n.980A>G n.985A>G c.251A>G | dbSNP gnomAD v4 |
| 2 | g.240783079T= | CA1339288591 | KIF1A | c.829A= (p.Thr277=) n.987A= n.980A= n.985A= c.251A= | dbSNP |