| 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 |
| 7 | g.74051764G= | CA1717343497 | ELN | c.814G= (p.Gly272=) c.706G= (p.Gly236=) c.829G= (p.Gly277=) c.463G= (p.Gly155=) c.784G= (p.Gly262=) c.772G= (p.Gly258=) c.799G= (p.Gly267=) c.397G= (p.Gly133=) c.748G= (p.Gly250=) n.280G= c.682G= (p.Gly228=) c.778G= (p.Gly260=) c.793G= (p.Gly265=) c.787G= (p.Gly263=) c.763G= (p.Gly255=) c.742G= (p.Gly248=) | dbSNP |
| 7 | g.74051764G>C | CA367870960 | ELN | c.814G>C (p.Gly272Arg) c.706G>C (p.Gly236Arg) c.829G>C (p.Gly277Arg) c.463G>C (p.Gly155Arg) c.784G>C (p.Gly262Arg) c.772G>C (p.Gly258Arg) c.799G>C (p.Gly267Arg) c.397G>C (p.Gly133Arg) c.748G>C (p.Gly250Arg) n.280G>C c.682G>C (p.Gly228Arg) c.778G>C (p.Gly260Arg) c.793G>C (p.Gly265Arg) c.787G>C (p.Gly263Arg) c.763G>C (p.Gly255Arg) c.742G>C (p.Gly248Arg) | dbSNP gnomAD v4 |