
2022/07/06 15:51:44 CEST - Wednesday, July 6th 2022
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 |
|