|
chr11-5246830-A-AGT |
A |
AGT |
rs33999427 ,
HbVar.710 ,
|
frameshift_variant |
HIGH |
1 |
2184 |
AGT:0.000 |
|
chr11-5246862-C-T |
C |
T |
rs33949486 ,
CM024482 ,
HbVar.548 ,
|
missense_variant |
MODERATE |
1 |
2184 |
T:0.000 |
|
chr11-5246870-C-T |
C |
T |
rs113082294 ,
|
synonymous_variant |
LOW |
2 |
2184 |
T:0.001 |
|
chr11-5247828-G-A |
G |
A |
rs34515413 ,
CM960817 ,
CM960818 ,
CD800007 ,
|
synonymous_variant |
LOW |
1 |
2182 |
A:0.000 |
|
chr11-5247992-CAAAG-C |
CAAAG |
C |
rs1235072590 ,
|
frameshift_variant |
HIGH |
9 |
2184 |
C:0.004 |
|
chr11-5248159-C-A |
C |
A |
rs33971440 ,
CS991412 ,
CS840007 ,
CS023208 ,
HbVar.818 ,
|
splice_donor_variant |
HIGH |
3 |
2184 |
A:0.001 |
|
chr11-5248173-C-T |
C |
T |
rs33950507 ,
CM820002 ,
CM950610 ,
CD024041 ,
CS820003 ,
HbVar.277 ,
|
missense_variant |
MODERATE |
257 |
2184 |
T:0.118 |
|
chr11-5248200-T-A |
T |
A |
rs33986703 ,
CM790002 ,
HbVar.800 ,
|
stop_gained |
HIGH |
3 |
2184 |
A:0.001 |