| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.75636503A>G | CA144648 | KARS1 | c.433T>C (p.Tyr145His) c.517T>C (p.Tyr173His) c.223-405T>C (n.223-405T>C) c.351T>C (p.Ser117=) c.235T>C n.547T>C c.146+7780T>C (n.146+7780T>C) c.-36T>C (n.-36T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.75636503A= | CA2233454835 | KARS1 | c.433T= (p.Tyr145=) c.517T= (p.Tyr173=) c.223-405T= (n.223-405T=) c.351T= (p.Ser117=) c.235T= n.547T= c.146+7780T= (n.146+7780T=) c.-36T= (n.-36T=) | dbSNP |