| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.75631726C>T | CA144651 | KARS1 | c.1045G>A (p.Asp349Asn) c.1129G>A (p.Asp377Asn) c.*554G>A (n.*554G>A) c.*588G>A (n.*588G>A) c.147-3737G>A (n.147-3737G>A) c.577G>A (p.Asp193Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.75631726C= | CA2233449786 | KARS1 | c.1045G= (p.Asp349=) c.1129G= (p.Asp377=) c.*554G= (n.*554G=) c.*588G= (n.*588G=) c.147-3737G= (n.147-3737G=) c.577G= (p.Asp193=) | dbSNP |