Table 2.
Chr. | Position | Reference Nucleotide | Alternate Nucleotide | Reference Amino Acid | Alternate Amino Acid | Residue Number | Scaled CADD | RS Number | ExAC Freq. | Our Data Set Freq. | Our data set | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 7 | 107746432 | G | A | H | Y | 234 | 25.8 | rs2074749 | 0.029 | 0.026 | 4 |
2 | 7 | 107706895 | T | C | N | S | 866 | 25.1 | rs2240445 | 0.028 | 0.0128 | 2 |
3 | 7 | 107696101 | A | C | V | G | 1244 | 24.8 | rs147992634 | 0.005 | 0.00641 | 1 |
4 | 7 | 107738905 | C | T | D | N | 435 | 23.9 | 0.0192 | 3 | ||
5 | 7 | 107746309 | G | A | R | C | 275 | 23.4 | 0.0004 | 0.00641 | 1 | |
6 | 7 | 107749668 | C | G | R | T | 117 | 17.75 | rs149874137 | 0.015 | 0.0128 | 2 |
7 | 7 | 107720162 | C | A | V | F | 591 | 15.13 | rs9690688 | 0.095 | 0.128 | 20 |
8 | 7 | 107720090 | G | T | P | T | 615 | 13.76 | 0.0003 | 0.00641 | 1 | |
9 | 7 | 107677984 | G | A | H | Y | 1510 | 8.412 | rs1627354 | 0.097 | 0.115 | 18 |