| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74051764G>A | CA4292716 | ELN | c.814G>A (p.Gly272Arg) c.706G>A (p.Gly236Arg) c.829G>A (p.Gly277Arg) c.463G>A (p.Gly155Arg) c.784G>A (p.Gly262Arg) c.772G>A (p.Gly258Arg) c.799G>A (p.Gly267Arg) c.397G>A (p.Gly133Arg) c.748G>A (p.Gly250Arg) n.280G>A c.682G>A (p.Gly228Arg) c.778G>A (p.Gly260Arg) c.793G>A (p.Gly265Arg) c.787G>A (p.Gly263Arg) c.763G>A (p.Gly255Arg) c.742G>A (p.Gly248Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.74051764G>T | CA320966 | ELN | c.814G>T (p.Gly272Ter) c.706G>T (p.Gly236Ter) c.829G>T (p.Gly277Ter) c.463G>T (p.Gly155Ter) c.784G>T (p.Gly262Ter) c.772G>T (p.Gly258Ter) c.799G>T (p.Gly267Ter) c.397G>T (p.Gly133Ter) c.748G>T (p.Gly250Ter) n.280G>T c.682G>T (p.Gly228Ter) c.778G>T (p.Gly260Ter) c.793G>T (p.Gly265Ter) c.787G>T (p.Gly263Ter) c.763G>T (p.Gly255Ter) c.742G>T (p.Gly248Ter) | dbSNP |