4888722 |
c.1244C>A |
p.P415H |
Chr.1:
172569053-172569053
on Build GRCh38
|
6212610 |
c.1297T>A |
p.W433R |
Chr.1:
172569106-172569106
on Build GRCh38
|
6389716 |
c.844G>A |
p.E282K |
Chr.1:
172569130-172569130
on Build GRCh38
|
3478399 |
c.1262C>T |
p.P421L |
Chr.1:
172569071-172569071
on Build GRCh38
|
6527892 |
c.1330A>C |
p.K444Q |
Chr.1:
172569139-172569139
on Build GRCh38
|
6392648 |
c.796G>T |
p.E266* |
Chr.1:
172569082-172569082
on Build GRCh38
|
5754269 |
c.1327G>A |
p.E443K |
Chr.1:
172569136-172569136
on Build GRCh38
|
6448285 |
c.755G>T |
p.G252V |
Chr.1:
172569041-172569041
on Build GRCh38
|
899653 |
c.1305G>T |
p.K435N |
Chr.1:
172569114-172569114
on Build GRCh38
|
1336272 |
c.1327G>T |
p.E443* |
Chr.1:
172569136-172569136
on Build GRCh38
|
1336271 |
c.850G>T |
p.E284* |
Chr.1:
172569136-172569136
on Build GRCh38
|
899651 |
c.1299_1301delGAA |
p.K436delK |
Chr.1:
172569108-172569110
on Build GRCh38
|
677120 |
c.1271C>T |
p.P424L |
Chr.1:
172569080-172569080
on Build GRCh38
|
899652 |
c.828G>T |
p.K276N |
Chr.1:
172569114-172569114
on Build GRCh38
|
899650 |
c.822_824delGAA |
p.K277delK |
Chr.1:
172569108-172569110
on Build GRCh38
|
7173221 |
c.1294G>A |
p.E432K |
Chr.1:
172569103-172569103
on Build GRCh38
|
4629086 |
c.846A>G |
p.E282E |
Chr.1:
172569132-172569132
on Build GRCh38
|
6392649 |
c.1273G>T |
p.E425* |
Chr.1:
172569082-172569082
on Build GRCh38
|
4629087 |
c.1323A>G |
p.E441E |
Chr.1:
172569132-172569132
on Build GRCh38
|
5676685 |
c.845delA |
p.E284fs*30 |
Chr.1:
172569131-172569131
on Build GRCh38
|
6527891 |
c.853A>C |
p.K285Q |
Chr.1:
172569139-172569139
on Build GRCh38
|
6389717 |
c.1321G>A |
p.E441K |
Chr.1:
172569130-172569130
on Build GRCh38
|
6212609 |
c.820T>A |
p.W274R |
Chr.1:
172569106-172569106
on Build GRCh38
|
5754268 |
c.850G>A |
p.E284K |
Chr.1:
172569136-172569136
on Build GRCh38
|
3478398 |
c.785C>T |
p.P262L |
Chr.1:
172569071-172569071
on Build GRCh38
|
4025117 |
c.1267G>T |
p.D423Y |
Chr.1:
172569076-172569076
on Build GRCh38
|
6448286 |
c.1232G>T |
p.G411V |
Chr.1:
172569041-172569041
on Build GRCh38
|
4888721 |
c.767C>A |
p.P256H |
Chr.1:
172569053-172569053
on Build GRCh38
|
4025116 |
c.790G>T |
p.D264Y |
Chr.1:
172569076-172569076
on Build GRCh38
|
7173222 |
c.817G>A |
p.E273K |
Chr.1:
172569103-172569103
on Build GRCh38
|
5676686 |
c.1322delA |
p.E443fs*30 |
Chr.1:
172569131-172569131
on Build GRCh38
|
677119 |
c.794C>T |
p.P265L |
Chr.1:
172569080-172569080
on Build GRCh38
|