12 |
551746 |
 |
Ctif
|
0.111 |
R7115 |
G1 |
132.49 |
N
|
|
18 |
75471803 |
|
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
critical splice donor site |
|
Het |
probably benign |
|
|
phenotype |
05/15/2019 |