From: TRPM4 non-selective cation channel variants in long QT syndrome
Patient ID | cDNA | Exon | Protein | Local controls | EVS Eur-Am | ExAC Eur-Am | Combined controls | Fisher exact test | Interspecies conservation | Grantham score | snp&go | PhD-SNP | SNAP Prediction | SNAP Expected Accuracy | Predict SNP1.0 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | c.1321 G > A | 11 | p.V441M | 0/551 | A = 0/G = 8600 | A = 6/G = 66466 | 6/82637 | 0.015* | 12/12 | 21 | Disease (5) | Disease (7) | Non-neutral | 78% | Deleterious (76%) |
2 | c.1495 C > T | 11 | p.R499W | 1/410 | T = 2/C = 8588 | T = 12/C = 62148 | 15/78160 | 0.036* | 6/12 | 101 | Neutral (1) | Disease (3) | Non-neutral | 70% | Deleterious (87%) |
3 | c.1496 G > C | 11 | p.R499P | 0/410 | C = 0/G = 8588 | C = 0/G = 62148 | 0/78160 | 0.002* | 6/12 | 103 | Disease (5) | Disease (7) | Non-neutral | 63% | Neutral (73%) |
4 | c.2531 G > A | 17 | p.G844D | 4/1000 | A = 13/G = 8359 | A = 37/G = 8324 | 55/18440 | 0.417 | 7/9a | 94 | Neutral (7) | Neutral (4) | Non-neutral | 78% | Neutral (75%) |