Gene | RS ID Number | Variant Name | Protein Name | Variant Type | Polyphen Score | MAF in EVA Control Cohort (%) | CMT Cohort | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Total Cohort | Breed Specific | |||||||||||||||
Dalmatian | Golden Retriever | Siberian Husky | Standard Schnauzer | |||||||||||||
MAF (%) | P-value | MAF (%) | P-value | MAF (%) | P-value | MAF (%) | P-value | MAF (%) | P-value | |||||||
BRCA2: ENSCAFT00000010309.3 | rs23250374 | c.A428G | p.H143R | missense | BENIGN | 25.7 | 42.9 | 0.0749 | 33.3 | 0.6506 | 70 | 0.0048 | 0 | 0.3447 | 50 | 0.1847 |
rs850935038** | c.T1158G** | p.C386W** | missense | BENIGN | 20.6 | 42.9 | 0.0095 | 50 | 0.1107 | 10 | 0.6948 | 83.3 | 0.0096 | 50 | 0.1107 | |
rs853007536** | c.9995_9996insAAA** | p.M3332delinsIK** | indel | NA | 20.9 | 42.9 | 0.01621 | 50 | 0.1136 | 10 | 0.695 | 83.3 | 0.0006 | 50 | 0.1136 | |
STK11: ENSCAFT00000031055.3 | – | c.C109T^ | p.P37S^ | missense | UNKNOWN | 0 | 3.6 | 0.0654 | 16.7 | 0.0148 | 0 | 1 | 0 | 1 | 0 | 1 |
– | c.A286G^ | p.M96V^ | missense | BENIGN | 0 | 10.7 | 0.0003 | 0 | 1 | 0 | 1 | 33.3 | 0.0002 | 16.7 | 0.0148 | |
– | c.T293C^ | p.F98S^ | missense | BENIGN | 0 | 10.7 | 0.0003 | 0 | 1 | 0 | 1 | 33.3 | 0.0002 | 16.7 | 0.0148 |