| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40410699G>A | CA234134 | IVD | c.268G>A (p.Gly90Arg) c.358G>A (p.Gly120Arg) c.445G>A (p.Gly149Arg) c.277G>A (p.Gly93Arg) c.367G>A (p.Gly123Arg) c.117G>A c.310G>A (p.Gly104Arg) c.454G>A (p.Gly152Arg) n.367G>A n.468G>A n.768G>A c.397G>A (p.Gly133Arg) n.717G>A n.758G>A n.770G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40410699G= | CA2171765521 | IVD | c.268G= (p.Gly90=) c.358G= (p.Gly120=) c.445G= (p.Gly149=) c.277G= (p.Gly93=) c.367G= (p.Gly123=) c.117G= c.310G= (p.Gly104=) c.454G= (p.Gly152=) n.367G= n.468G= n.768G= c.397G= (p.Gly133=) n.717G= n.758G= n.770G= | dbSNP |