| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45476508C>G | CA352423624 | LARS2 | c.899C>G (p.Thr300Arg) c.*767C>G (n.*767C>G) c.770C>G (p.Thr257Arg) | dbSNP |
| 3 | g.45476508C>T | CA278778 | LARS2 | c.899C>T (p.Thr300Met) c.*767C>T (n.*767C>T) c.770C>T (p.Thr257Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45476508C= | CA1361691371 | LARS2 | c.899C= (p.Thr300=) c.*767C= (n.*767C=) c.770C= (p.Thr257=) | dbSNP |
| 3 | g.45476508C>A | CA352423622 | LARS2 | c.899C>A (p.Thr300Lys) c.*767C>A (n.*767C>A) c.770C>A (p.Thr257Lys) | dbSNP gnomAD v4 |