| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28695869del | CA288251 | CHEK2 | c.1009-627del (n.1009-627del) c.899del (p.Thr300MetfsTer15) c.1100del (p.Thr367MetfsTer15) c.437del (p.Thr146MetfsTer15) c.440del (p.Thr147MetfsTer15) n.652del c.1013del (p.Thr338MetfsTer15) c.1229del (p.Thr410MetfsTer15) c.827del (p.Thr276MetfsTer15) c.*590del (n.*590del) c.1009del (n.1009del) c.1038del (n.1038del) c.331del c.990del (n.990del) c.263+3969del c.620del (p.Thr207MetfsTer15) c.557del (p.Thr186MetfsTer15) c.1259del (p.Thr420MetfsTer15) c.1172del (p.Thr391MetfsTer15) c.1028del (p.Thr343MetfsTer15) c.929del (p.Thr310MetfsTer15) n.1259del n.1167del c.653del (p.Thr218MetfsTer15) c.1223del (p.Thr408MetfsTer15) c.1130del (p.Thr377MetfsTer15) c.1043del (p.Thr348MetfsTer15) n.1270del n.1183del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.28695869G= | CA2400238365 | CHEK2 | c.1009-627C= (n.1009-627C=) c.899C= (p.Thr300=) c.1100C= (p.Thr367=) c.437C= (p.Thr146=) c.440C= (p.Thr147=) n.652C= c.1013C= (p.Thr338=) c.1229C= (p.Thr410=) c.827C= (p.Thr276=) c.*590C= (n.*590C=) c.1009C= (n.1009C=) c.1038C= (n.1038C=) c.331C= c.990C= (n.990C=) c.263+3969C= c.620C= (p.Thr207=) c.557C= (p.Thr186=) c.1259C= (p.Thr420=) c.1172C= (p.Thr391=) c.1028C= (p.Thr343=) c.929C= (p.Thr310=) n.1259C= n.1167C= c.653C= (p.Thr218=) c.1223C= (p.Thr408=) c.1130C= (p.Thr377=) c.1043C= (p.Thr348=) n.1270C= n.1183C= | dbSNP dbSNP dbSNP |