From: Genome-wide linkage and exome analyses identify variants of HMCN1for splenic epidermoid cyst
Substitution | Variant ID | Sample | MAF | GERP | SIFT | PolyPhen-2 |
---|---|---|---|---|---|---|
R5205H | rs150188026 | II:2, II:6, III:2, IV:3, IV:4, IV:6 | 0.018 | 2.02 | 0.34 | 0.019 |
T5004I | rs114629728 | Kos-2 | 0.005-0.011 | 2.56 | 0.29 | 0.175 |
H5244Q | rs75161007 | Kos-3 | 0.005-0.022 | 0.69 | 0.60 | 0.010 |
A4704V | rs41317503 | Kos-4 | 0.001 | 5.47 | 0.04 | 0.774 |