From: Identification of functional genetic variation in exome sequence analysis
Chromosome | Nucleotide position | Reference nucleotide | Variant nucleotide | Gene | rs ID number | Amino acid changea | PolyPhen-2 | SIFT | MAPP | VarioWatch | Loss of function |
---|---|---|---|---|---|---|---|---|---|---|---|
2 | 138476119 | C | T | HNMT | rs11558538 | T105I | D | D | D | D | Yes |
4 | 26092552 | C | T | CCKAR | rs52795588 | V365I | D | T | T | D | Yes |
4 | 165337896 | A | G | ANP32C | NA | Y140H | D | D | D | D | Yes |
5 | 7923973 | A | G | MTRR | rs1801394 | I49M | D | D | D | D | Yes |
7 | 5993056 | C | T | PMS2 | rs1805324 | M622I | T | T | D | T | Yes |
7 | 5993133 | T | A | PMS2 | rs1805318 | T597S | T | T | D | T | Yes |
7 | 127041823 | G | A | PAX4 | NA | R121W | D | D | D | D | Yes |
7 | 127042702 | G | A | PAX4 | rs35155575 | R37W | D | D | D | D | Yes |
10 | 42930125 | G | A | RET | rs1799939 | G691S | D | T | D | D | No |
10 | 72030393 | G | A | PRF1 | rs35947132 | A91V | D | D | D | D | Yes |
12 | 38989178 | G | A | LRRK2 | rs7133914 | R1398H | D | T | T | T | Yes |
12 | 39000112 | G | C | LRRK2 | rs33949390 | R1628P | D | D | T | D | Yes |
12 | 39043595 | G | A | LRRK2 | rs34778348 | G2385R | T | T | D | D | No |
13 | 32911463 | A | G | BRCA2 | rs1799944 | N991D | T | T | D | D | Yes |
19 | 15851431 | C | T | CYP4F2 | rs2108622 | V433M | D | D | T | D | Yes |
Correct predictions | Â | Â | Â | Â | Â | Â | 11/15 | 10/15 | 9/15 | 10/15 | Â |