| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240747320G>A | CA153360 | KIF1A | c.2676C>T (p.Ala892=) c.2979C>T (p.Ala993=) c.1914C>T (p.Ala638=) c.2952C>T (p.Ala984=) c.2703C>T (p.Ala901=) n.2834C>T n.1973C>T c.2778C>T (p.Ala926=) n.2051C>T n.2C>T c.56C>T c.1974C>T (p.Ala658=) c.3054C>T (p.Ala1018=) c.2928C>T (p.Ala976=) c.2751C>T (p.Ala917=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240747320G>C | CA432030959 | KIF1A | c.2676C>G (p.Ala892=) c.2979C>G (p.Ala993=) c.1914C>G (p.Ala638=) c.2952C>G (p.Ala984=) c.2703C>G (p.Ala901=) n.2834C>G n.1973C>G c.2778C>G (p.Ala926=) n.2051C>G n.2C>G c.56C>G c.1974C>G (p.Ala658=) c.3054C>G (p.Ala1018=) c.2928C>G (p.Ala976=) c.2751C>G (p.Ala917=) | dbSNP gnomAD v4 |
| 2 | g.240747320G= | CA1339269634 | KIF1A | c.2676C= (p.Ala892=) c.2979C= (p.Ala993=) c.1914C= (p.Ala638=) c.2952C= (p.Ala984=) c.2703C= (p.Ala901=) n.2834C= n.1973C= c.2778C= (p.Ala926=) n.2051C= n.2C= c.56C= c.1974C= (p.Ala658=) c.3054C= (p.Ala1018=) c.2928C= (p.Ala976=) c.2751C= (p.Ala917=) | dbSNP |