Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.44301382G>TCA324938AARS2,POLR1Cc.2681C>A (p.Ser894Ter)
n.577-5561G>T (p.=)
n.39C>A
n.314-5561G>T
c.2390C>A (p.Ser797Ter)
n.2606C>A
c.1391C>A (p.Ser464Ter)
c.946-140508G>T (p.=)
ClinVar dbSNP
6g.44301382G>CCA138384451AARS2,POLR1Cc.2681C>G (p.Ser894Ter)
n.577-5561G>C (p.=)
n.39C>G
n.314-5561G>C
c.2390C>G (p.Ser797Ter)
n.2606C>G
c.1391C>G (p.Ser464Ter)
c.946-140508G>C (p.=)
dbSNP

Number of alleles fetched