| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.75635982G>A | CA358202 | KARS1 | c.599C>T (p.Pro200Leu) c.683C>T (p.Pro228Leu) c.*108C>T (n.*108C>T) c.*142C>T (n.*142C>T) c.401C>T n.713C>T c.92C>T (p.Pro31Leu) c.147-7993C>T (n.147-7993C>T) c.131C>T (p.Pro44Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.75635982G= | CA2233454338 | KARS1 | c.599C= (p.Pro200=) c.683C= (p.Pro228=) c.*108C= (n.*108C=) c.*142C= (n.*142C=) c.401C= n.713C= c.92C= (p.Pro31=) c.147-7993C= (n.147-7993C=) c.131C= (p.Pro44=) | dbSNP |