| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140697311G>T | CA350908 | HARS2 | c.1102G>T (p.Val368Leu) c.781G>T (p.Val261Leu) c.*680G>T (n.*680G>T) c.1142G>T c.1003G>T (p.Val335Leu) c.892G>T (p.Val298Leu) c.1120G>T (p.Val374Leu) c.*483G>T (n.*483G>T) c.586G>T (p.Val196Leu) c.1027G>T (p.Val343Leu) c.670G>T (p.Val224Leu) c.1021G>T (p.Val341Leu) c.442G>T (p.Val148Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140697311G>A | CA3444614 | HARS2 | c.1102G>A (p.Val368Met) c.781G>A (p.Val261Met) c.*680G>A (n.*680G>A) c.1142G>A c.1003G>A (p.Val335Met) c.892G>A (p.Val298Met) c.1120G>A (p.Val374Met) c.*483G>A (n.*483G>A) c.586G>A (p.Val196Met) c.1027G>A (p.Val343Met) c.670G>A (p.Val224Met) c.1021G>A (p.Val341Met) c.442G>A (p.Val148Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |