Deletion | NM_006231.4(POLE):c.905del (p.Gly302fs) | POLE | Pathogenic | 12 | 133253136 | 133253136 | GC | G | criteria provided, single submitter | - |
Indel | NM_006231.4(POLE):c.929_932delinsCCAACT (p.Arg310fs) | POLE | Pathogenic | 12 | 133252768 | 133252771 | TCCC | AGTTGG | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.1351C>T (p.Gln451Ter) | POLE | Pathogenic | 12 | 133250169 | 133250169 | G | A | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.1623_1633del (p.His543fs) | POLE | Pathogenic | 12 | 133249266 | 133249276 | TCCACGTGGCCC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2125G>T (p.Glu709Ter) | POLE | Pathogenic | 12 | 133244990 | 133244990 | C | A | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.2473_2492del (p.Arg825fs) | POLE | Pathogenic | 12 | 133241025 | 133241044 | CATCTCCATGGAGTACCAGCG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2551G>T (p.Glu851Ter) | POLE | Pathogenic | 12 | 133240966 | 133240966 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.2811C>A (p.Tyr937Ter) | POLE | Pathogenic | 12 | 133238166 | 133238166 | G | T | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.2956del (p.Gln986fs) | POLE | Pathogenic | 12 | 133237659 | 133237659 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.3039G>A (p.Trp1013Ter) | POLE | Pathogenic | 12 | 133237576 | 133237576 | C | T | criteria provided, single submitter | - |