Table 1.
Gene Symbol | Gene ID | Reference nucleotide | Variant nucleotide | Position | aa | Provean Prediction |
---|---|---|---|---|---|---|
Lrp2 | 68407 | G | A | 51,642,105 | S1443L | −2.026 |
Fsip2 | 1593013 | A | T | 66,068,203 | E4965D | −2.625 |
Pramel7 | 1565990 | T | A | 71,166,422 | D435V | −5.107 |
Pramel6 | 1565946 | T | G | 71,183,838 | F462C | 1.346 |
Pacsin3 | 1307327 | G | T | 75,614,920 | G13V | −0.473 |
Rag2 | 1305588 | T | C | 86,771,280 | I387T | 0.584 |
Rag1 | 619790 | A | G | 86,785,697 | V503A | 1.105 |
Rag1 | 619790 | G | C | 86,786,211 | Q334E | 0.357 |
Pamr1 | 1308745 | A | C | 87,845,730 | E299A | 0.105 |
Slc1a2 | 3697 | A | G | 87,988,333 | I515V | −0.020 |
Provean prediction of −2.5 or higher (emboldened) indicates that the amino acid change is likely damaging to protein function. aa, amino acid