| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.95163161C>A | CA388397024 | ABCC4 | c.2269G>T (p.Glu757Ter) c.2410G>T (n.2410G>T) n.2552G>T c.*2315G>T (n.*2315G>T) c.2128G>T (p.Glu710Ter) c.2044G>T (p.Glu682Ter) c.2140G>T (p.Glu714Ter) c.2179G>T (p.Glu727Ter) c.1720G>T (p.Glu574Ter) c.754G>T (p.Glu252Ter) | dbSNP |
| 13 | g.95163161C>T | CA7019254 | ABCC4 | c.2269G>A (p.Glu757Lys) c.2410G>A (n.2410G>A) n.2552G>A c.*2315G>A (n.*2315G>A) c.2128G>A (p.Glu710Lys) c.2044G>A (p.Glu682Lys) c.2140G>A (p.Glu714Lys) c.2179G>A (p.Glu727Lys) c.1720G>A (p.Glu574Lys) c.754G>A (p.Glu252Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |