6996368 |
c.1182G>T |
p.M394I |
Chr.1:
181715348-181715348
on Build GRCh38
|
5227694 |
c.1039G>T |
p.A347S |
Chr.1:
181715352-181715352
on Build GRCh38
|
4226871 |
c.13G>T |
p.E5* |
Chr.1:
181715358-181715358
on Build GRCh38
|
4025760 |
c.1216G>A |
p.A406T |
Chr.1:
181715382-181715382
on Build GRCh38
|
3479535 |
c.6C>T |
p.L2L |
Chr.1:
181715351-181715351
on Build GRCh38
|
4461640 |
c.1214C>T |
p.S405F |
Chr.1:
181715380-181715380
on Build GRCh38
|
1199262 |
c.1192G>T |
p.E398* |
Chr.1:
181715358-181715358
on Build GRCh38
|
1583866 |
c.1172-1G>A |
p.? |
Chr.1:
181715337-181715337
on Build GRCh38
|
7213902 |
c.1172A>C |
p.E391A |
Chr.1:
181715338-181715338
on Build GRCh38
|
1473104 |
c.1186G>T |
p.A396S |
Chr.1:
181715352-181715352
on Build GRCh38
|
6996371 |
c.1035G>T |
p.M345I |
Chr.1:
181715348-181715348
on Build GRCh38
|
1199261 |
c.1192G>T |
p.E398* |
Chr.1:
181715358-181715358
on Build GRCh38
|
7213905 |
c.1025A>C |
p.E342A |
Chr.1:
181715338-181715338
on Build GRCh38
|
6996369 |
c.1182G>T |
p.M394I |
Chr.1:
181715348-181715348
on Build GRCh38
|
3705294 |
c.1183C>A |
p.L395I |
Chr.1:
181715349-181715349
on Build GRCh38
|
3705296 |
c.4C>A |
p.L2I |
Chr.1:
181715349-181715349
on Build GRCh38
|
2096516 |
c.1185C>T |
p.L395L |
Chr.1:
181715351-181715351
on Build GRCh38
|
424741 |
c.1186G>T |
p.A396S |
Chr.1:
181715352-181715352
on Build GRCh38
|
4025759 |
c.1216G>A |
p.A406T |
Chr.1:
181715382-181715382
on Build GRCh38
|
3966083 |
c.29G>A |
p.G10E |
Chr.1:
181715374-181715374
on Build GRCh38
|
3966082 |
c.1208G>A |
p.G403E |
Chr.1:
181715374-181715374
on Build GRCh38
|
6059801 |
c.1078G>T |
p.V360L |
Chr.1:
181715391-181715391
on Build GRCh38
|
7234900 |
c.1054A>G |
p.N352D |
Chr.1:
181715367-181715367
on Build GRCh38
|
900529 |
c.1172-1G>A |
p.? |
Chr.1:
181715337-181715337
on Build GRCh38
|
6059800 |
c.1225G>T |
p.V409L |
Chr.1:
181715391-181715391
on Build GRCh38
|
3976650 |
c.22A>G |
p.N8D |
Chr.1:
181715367-181715367
on Build GRCh38
|
4340634 |
c.1045G>T |
p.E349* |
Chr.1:
181715358-181715358
on Build GRCh38
|
3705295 |
c.1183C>A |
p.L395I |
Chr.1:
181715349-181715349
on Build GRCh38
|
3966081 |
c.1208G>A |
p.G403E |
Chr.1:
181715374-181715374
on Build GRCh38
|
5227693 |
c.1039G>T |
p.A347S |
Chr.1:
181715352-181715352
on Build GRCh38
|
3976649 |
c.1201A>G |
p.N401D |
Chr.1:
181715367-181715367
on Build GRCh38
|
5227695 |
c.7G>T |
p.A3S |
Chr.1:
181715352-181715352
on Build GRCh38
|
4461643 |
c.35C>T |
p.S12F |
Chr.1:
181715380-181715380
on Build GRCh38
|
4461641 |
c.1214C>T |
p.S405F |
Chr.1:
181715380-181715380
on Build GRCh38
|
6059802 |
c.1078G>T |
p.V360L |
Chr.1:
181715391-181715391
on Build GRCh38
|
7234899 |
c.1054A>G |
p.N352D |
Chr.1:
181715367-181715367
on Build GRCh38
|
2096517 |
c.1185C>T |
p.L395L |
Chr.1:
181715351-181715351
on Build GRCh38
|
6059799 |
c.1225G>T |
p.V409L |
Chr.1:
181715391-181715391
on Build GRCh38
|
6996372 |
c.3G>T |
p.M1I |
Chr.1:
181715348-181715348
on Build GRCh38
|
6059803 |
c.46G>T |
p.V16L |
Chr.1:
181715391-181715391
on Build GRCh38
|
4025761 |
c.37G>A |
p.A13T |
Chr.1:
181715382-181715382
on Build GRCh38
|
7213903 |
c.1172A>C |
p.E391A |
Chr.1:
181715338-181715338
on Build GRCh38
|
6996370 |
c.1035G>T |
p.M345I |
Chr.1:
181715348-181715348
on Build GRCh38
|
3976648 |
c.1201A>G |
p.N401D |
Chr.1:
181715367-181715367
on Build GRCh38
|
7213904 |
c.1025A>C |
p.E342A |
Chr.1:
181715338-181715338
on Build GRCh38
|
4461642 |
c.1067C>T |
p.S356F |
Chr.1:
181715380-181715380
on Build GRCh38
|