single nucleotide variant | NM_006231.4(POLE):c.2049C>G (p.Tyr683Ter) | POLE | Pathogenic | 12 | 133245066 | 133245066 | G | C | criteria provided, single submitter | OMIM:174762.0006 |
Duplication | NM_006231.4(POLE):c.4689dup (p.Ile1564fs) | POLE | Pathogenic | 12 | 133219444 | 133219445 | T | TG | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.5423del (p.Gln1808fs) | POLE | Pathogenic | 12 | 133215840 | 133215840 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.185G>A (p.Trp62Ter) | POLE | Pathogenic | 12 | 133257743 | 133257743 | C | T | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.2245del (p.Arg749fs) | POLE | Pathogenic | 12 | 133244163 | 133244163 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.119G>A (p.Trp40Ter) | POLE | Pathogenic | 12 | 133257809 | 133257809 | C | T | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6026del (p.His2009fs) | POLE | Pathogenic | 12 | 133209360 | 133209360 | GT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.538C>T (p.Gln180Ter) | POLE | Pathogenic | 12 | 133256123 | 133256123 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2158A>T (p.Lys720Ter) | POLE | Pathogenic | 12 | 133244957 | 133244957 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.6002C>G (p.Ser2001Ter) | POLE | Pathogenic | 12 | 133210774 | 133210774 | G | C | criteria provided, single submitter | - |