| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44311507A>C | CA129554 | AARS2,POLR1C | c.464T>G (p.Leu155Arg) c.855+3865A>C n.499T>G c.-555T>G (n.-555T>G) c.946-130383A>C (n.946-130383A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44311507A= | CA1624929410 | AARS2,POLR1C | c.464T= (p.Leu155=) c.855+3865A= n.499T= c.-555T= (n.-555T=) c.946-130383A= (n.946-130383A=) | dbSNP |