| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40411301del | CA221937 | IVD | c.408del (p.Glu136AspfsTer11) c.498del (p.Glu166AspfsTer11) c.585del (p.Glu195AspfsTer11) c.417del (p.Glu139AspfsTer11) c.507del (p.Glu169AspfsTer11) c.257del c.104del n.121del c.450del (p.Glu150AspfsTer11) c.594del (p.Glu198AspfsTer11) n.507del n.608del n.908del c.537del (p.Glu179AspfsTer11) n.857del n.898del n.910del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40411301G= | CA2171765811 | IVD | c.408G= (p.Glu136=) c.498G= (p.Glu166=) c.585G= (p.Glu195=) c.417G= (p.Glu139=) c.507G= (p.Glu169=) c.257G= c.104G= n.121G= c.450G= (p.Glu150=) c.594G= (p.Glu198=) n.507G= n.608G= n.908G= c.537G= (p.Glu179=) n.857G= n.898G= n.910G= | dbSNP dbSNP |