| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.47949491C>A | CA313032 | SUCLA2 | c.733G>T c.1046G>T (p.Arg349Leu) c.1283G>T (p.Arg428Leu) c.1220G>T (p.Arg407Leu) c.*1013G>T (n.*1013G>T) n.528G>T c.71G>T (p.Arg24Leu) c.983G>T (p.Arg328Leu) c.818G>T (p.Arg273Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47949491C>T | CA388249610 | SUCLA2 | c.733G>A c.1046G>A (p.Arg349Gln) c.1283G>A (p.Arg428Gln) c.1220G>A (p.Arg407Gln) c.*1013G>A (n.*1013G>A) n.528G>A c.71G>A (p.Arg24Gln) c.983G>A (p.Arg328Gln) c.818G>A (p.Arg273Gln) | dbSNP gnomAD v2 gnomAD v4 |