| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ALOX5AP |
arachidonate 5-lipoxygenase-activating protein |
3 |
3 |
3 |
| AQP9 |
aquaporin 9 |
1 |
1 |
1 |
| ARG2 |
arginase, type II |
2 |
2 |
2 |
| ASS1 |
argininosuccinate synthetase 1 |
4 |
4 |
4 |
| ATRX |
alpha thalassemia/mental retardation syndrome X-linked |
162 |
119 |
162 |
| BCL11A |
B-cell CLL/lymphoma 11A |
9 |
9 |
9 |
| CNTNAP2 |
contactin associated protein-like 2 |
1 |
1 |
1 |
| CSNK2A1 |
casein kinase 2, alpha 1 polypeptide |
1 |
1 |
1 |
| EPAS1 |
endothelial PAS domain protein 1 |
1 |
1 |
1 |
| ERCC2 |
excision repair cross-complementing rodent repair deficiency, complementati |
6 |
6 |
6 |
| FLT1 |
fms-related tyrosine kinase 1 |
12 |
12 |
12 |
| GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
1 |
1 |
1 |
| GPM6B |
glycoprotein M6B |
7 |
7 |
7 |
| HAO2 |
hydroxyacid oxidase 2 (long chain) |
1 |
1 |
1 |
| HBA1 |
alpha-1 globin |
381 |
364 |
381 |
| HBA2 |
alpha-2 globin |
476 |
452 |
476 |
| HBB |
beta globin |
1004 |
947 |
1004 |
| HBD |
delta globin |
148 |
126 |
148 |
| HBG1 |
A-gamma globin |
63 |
56 |
63 |
| HBG2 |
G-gamma globin |
85 |
80 |
85 |
| HBS1L |
HBS1-like |
12 |
12 |
12 |
| KDR |
kinase insert domain receptor |
4 |
4 |
4 |
| KL |
klotho |
5 |
5 |
5 |
| KLF1 |
Kruppel-like factor 1 (erythroid) |
39 |
36 |
30 |
| MAP2K1 |
mitogen-activated protein kinase kinase 1 |
1 |
1 |
1 |
| MAP3K5 |
mitogen-activated protein kinase kinase kinase 5 |
2 |
2 |
2 |
| MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
2 |
2 |
2 |
| MYB |
Homo sapiens v-myb myeloblastosis viral oncogene homolog |
12 |
12 |
12 |
| NOS1 |
nitric oxide synthase 1 (neuronal) |
6 |
6 |
6 |
| NOS2 |
nitric oxide synthase 2, inducible |
2 |
2 |
2 |
| NOS3 |
nitric oxide synthase 3 (endothelial cell) |
3 |
3 |
3 |
| NOX3 |
NADPH oxidase 3 |
4 |
4 |
4 |
| NUP133 |
nucleoporin 133kDa |
1 |
1 |
1 |
| PDE7B |
phosphodiesterase 7B |
4 |
4 |
4 |
| SMAD3 |
SMAD family member 3 |
2 |
2 |
2 |
| SMAD6 |
SMAD family member 6 |
4 |
4 |
4 |
| TOX |
thymocyte selection-associated high mobility group box |
21 |
21 |
21 |
| |
Total of 37 gene entries |
2492 |
2314 |
2483 |
