2018/06/18 13:29:14 CEST - Monday, June 18th 2018
| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| CDH23 |
cadherin-related 23 |
1818 |
443 |
636 |
| CEACAM16 |
carcinoembryonic antigen-related cell adhesion molecule 16 |
0 |
0 |
0 |
| CERKL |
ceramide kinase-like |
0 |
0 |
0 |
| CHM |
choroideremia (Rab escort protein 1) |
473 |
280 |
473 |
| CLDN14 |
claudin 14 |
0 |
0 |
0 |
| CLRN1 |
clarin 1 |
371 |
45 |
197 |
| GPR98 |
G protein-coupled receptor 98 |
1229 |
312 |
228 |
| MYO15A |
myosin XVA |
296 |
113 |
138 |
| MYO6 |
myosin VI |
91 |
23 |
75 |
| MYO7A |
myosin VIIA |
3387 |
522 |
797 |
| OTOF |
otoferlin |
254 |
99 |
134 |
| PCDH15 |
protocadherin-related 15 |
710 |
178 |
244 |
| PDZD7 |
PDZ domain containing 7 |
39 |
17 |
25 |
| SLC26A4 |
solute carrier family 26 (anion exchanger), member 4 |
589 |
114 |
327 |
| TECTA |
tectorin alpha |
108 |
61 |
85 |
| TMC1 |
transmembrane channel-like 1 |
313 |
66 |
148 |
| USH1C |
Usher syndrome 1C |
414 |
99 |
174 |
| USH1G |
Usher syndrome 1G |
106 |
36 |
61 |
| USH2A |
Usher syndrome 2A |
10582 |
1054 |
3381 |
| WHRN |
Whirlin |
1433 |
73 |
1081 |
| |
Total of 20 gene entries |
22213 |
3535 |
7657 |
|
