| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44303159A>G | CA320581 | AARS2,POLR1C,TMEM151B | c.2162T>C (p.Val721Ala) c.577-3784A>G (n.577-3784A>G) c.314-3784A>G c.1871T>C (p.Val624Ala) n.2180+127T>C c.872T>C (p.Val291Ala) c.946-138731A>G (n.946-138731A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44303159A= | CA1624924122 | AARS2,POLR1C,TMEM151B | c.2162T= (p.Val721=) c.577-3784A= (n.577-3784A=) c.314-3784A= c.1871T= (p.Val624=) n.2180+127T= c.872T= (p.Val291=) c.946-138731A= (n.946-138731A=) | dbSNP |