| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56453703G>C | CA214940 | MIP | c.*37C>G (n.*37C>G) n.546C>G n.302C>G c.413C>G (p.Thr138Arg) n.369C>G c.128C>G (p.Thr43Arg) c.56C>G (p.Thr19Arg) | ClinVar dbSNP |
| 12 | g.56453703G>T | CA385272458 | MIP | c.*37C>A (n.*37C>A) n.546C>A n.302C>A c.413C>A (p.Thr138Lys) n.369C>A c.128C>A (p.Thr43Lys) c.56C>A (p.Thr19Lys) | dbSNP |
| 12 | g.56453703G>A | CA6632578 | MIP | c.*37C>T (n.*37C>T) n.546C>T n.302C>T c.413C>T (p.Thr138Met) n.369C>T c.128C>T (p.Thr43Met) c.56C>T (p.Thr19Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |