| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.47418189C>T | CA2367248 | SCAP | c.2392G>A (p.Val798Ile) c.*1109G>A (n.*1109G>A) c.965G>A (p.Arg322His) c.*1541G>A (n.*1541G>A) c.1273G>A (p.Val425Ile) c.1627G>A (p.Val543Ile) c.1216G>A (p.Val406Ile) c.1249G>A (p.Val417Ile) n.2578G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47418189C>A | CA352546956 | SCAP | c.2392G>T (p.Val798Phe) c.*1109G>T (n.*1109G>T) c.965G>T (p.Arg322Leu) c.*1541G>T (n.*1541G>T) c.1273G>T (p.Val425Phe) c.1627G>T (p.Val543Phe) c.1216G>T (p.Val406Phe) c.1249G>T (p.Val417Phe) n.2578G>T | dbSNP gnomAD v4 |