Table 2.
Pathogenic/likely pathogenic germline variants in susceptibility genes.
| ID | Gene | Mutation_Type | HGVS_P | CHR | POS | REF | ALT | Intervar_evide | Pop_Freq | Degrees |
|---|---|---|---|---|---|---|---|---|---|---|
| E07060 | CYP21A2 | Stop_gained | p.Gln319* | 6 | 32008198 | C | T | PVS1;PM2;PP3; | 1.00E-04 | Pathogenic |
| E11261 | CYP21A2 | Stop_gained | p.Gln319* | 6 | 32008198 | C | T | PVS1;PM2;PP3; | 1.00E-04 | Pathogenic |
| E12173 | CYP21A2 | Stop_gained | p.Gln319* | 6 | 32008198 | C | T | PVS1;PM2;PP3; | 1.00E-04 | Pathogenic |
| E12182 | CYP21A2 | Stop_gained | p.Gln319* | 6 | 32008198 | C | T | PVS1;PM2;PP3; | 1.00E-04 | Pathogenic |
| E12222 | CYP21A2 | Stop_gained | p.Gln319* | 6 | 32008198 | C | T | PVS1;PM2;PP3; | 0.0001 | Pathogenic |
| E09135 | SPINK1 | Splice_donor_variant | NA | 5 | 147207583 | A | G | PVS1;PP3;PP5 | 0.0035 | Pathogenic |
| E11348 | SPINK1 | Splice_donor_variant | NA | 5 | 147207583 | A | G | PVS1;PP3;PP5 | 0.0035 | Pathogenic |
| E08113 | OTOA | Stop_gained | p.Glu1048* | 16 | 21764434 | G | T | PVS1;PM2;PP3 | 0 | Pathogenic |
| E09207 | OTOA | Stop_gained | p.Glu1048* | 16 | 21764434 | G | T | PVS1;PM2;PP3 | 0 | Pathogenic |
| E09151 | PRAMEF7 | Splice_donor_variant | NA | 1 | 13609242 | C | A | PVS1;PM2 | 0 | Likely pathogenic |
| E11172 | PRAMEF7 | Splice_donor_variant | NA | 1 | 13609242 | C | A | PVS1;PM2 | 0 | Likely pathogenic |
| E09151 | PRAMEF10 | Splice_donor_variant | NA | 1 | 13412814 | T | C | PVS1;PM2 | 0 | Likely pathogenic |
| E09151 | PRAMEF10 | splice_donor_variant | NA | 1 | 13412814 | T | C | PVS1;PM2 | 0 | Likely pathogenic |
PVS, very strong pathogenicity; PM, moderate pathogenicity; PP, supporting pathogenicity. (The interpretation and grade of the sequence variants refer to PMID 25741868).