| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44301382G>C | CA138384451 | AARS2,POLR1C,TMEM151B | c.2681C>G (p.Ser894Ter) c.577-5561G>C (n.577-5561G>C) n.39C>G c.314-5561G>C c.2390C>G (p.Ser797Ter) n.2606C>G c.1391C>G (p.Ser464Ter) c.946-140508G>C (n.946-140508G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44301382G>T | CA324938 | AARS2,POLR1C,TMEM151B | c.2681C>A (p.Ser894Ter) c.577-5561G>T (n.577-5561G>T) n.39C>A c.314-5561G>T c.2390C>A (p.Ser797Ter) n.2606C>A c.1391C>A (p.Ser464Ter) c.946-140508G>T (n.946-140508G>T) | ClinVar dbSNP |
| 6 | g.44301382G= | CA1624922153 | AARS2,POLR1C,TMEM151B | c.2681C= (p.Ser894=) c.577-5561G= (n.577-5561G=) n.39C= c.314-5561G= c.2390C= (p.Ser797=) n.2606C= c.1391C= (p.Ser464=) c.946-140508G= (n.946-140508G=) | dbSNP |
| 6 | g.44301382G>A | CA364335981 | AARS2,POLR1C,TMEM151B | c.2681C>T (p.Ser894Leu) c.577-5561G>A (n.577-5561G>A) n.39C>T c.314-5561G>A c.2390C>T (p.Ser797Leu) n.2606C>T c.1391C>T (p.Ser464Leu) c.946-140508G>A (n.946-140508G>A) | dbSNP gnomAD v4 |