| 6502883 |
c.769C>T |
p.Q257* |
Chr.17:
40264945-40264945
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|
| 7140252 |
c.661C>A |
p.R221R |
Chr.17:
40264837-40264837
on Build GRCh38
|
| 5034948 |
c.690C>T |
p.V230V |
Chr.17:
40264866-40264866
on Build GRCh38
|
| 5034907 |
c.698C>T |
p.P233L |
Chr.17:
40264874-40264874
on Build GRCh38
|
| 706482 |
c.736C>T |
p.Q246* |
Chr.17:
40264912-40264912
on Build GRCh38
|
| 706481 |
c.823G>C |
p.E275Q |
Chr.17:
40264999-40264999
on Build GRCh38
|
| 4821870 |
c.690C>G |
p.V230V |
Chr.17:
40264866-40264866
on Build GRCh38
|
| 6217710 |
c.717C>G |
p.I239M |
Chr.17:
40264893-40264893
on Build GRCh38
|
| 1302765 |
c.754C>A |
p.P252T |
Chr.17:
40264930-40264930
on Build GRCh38
|
| 6217709 |
c.740C>G |
p.S247C |
Chr.17:
40264916-40264916
on Build GRCh38
|
| 130220 |
c.757C>T |
p.P253S |
Chr.17:
40264933-40264933
on Build GRCh38
|
| 6217706 |
c.815C>A |
p.S272* |
Chr.17:
40264991-40264991
on Build GRCh38
|
| 130219 |
c.751C>A |
p.P251T |
Chr.17:
40264927-40264927
on Build GRCh38
|
| 6834954 |
c.788A>G |
p.N263S |
Chr.17:
40264964-40264964
on Build GRCh38
|
| 4642108 |
c.789T>C |
p.N263N |
Chr.17:
40264965-40264965
on Build GRCh38
|
| 6822733 |
c.767G>A |
p.R256H |
Chr.17:
40264943-40264943
on Build GRCh38
|
| 4436103 |
c.711G>A |
p.V237V |
Chr.17:
40264887-40264887
on Build GRCh38
|
| 1158821 |
c.759G>A |
p.P253P |
Chr.17:
40264935-40264935
on Build GRCh38
|
| 1128731 |
c.818C>T |
p.A273V |
Chr.17:
40264994-40264994
on Build GRCh38
|
| 436520 |
c.845C>G |
p.S282C |
Chr.17:
40265021-40265021
on Build GRCh38
|
| 5852433 |
c.673C>T |
p.P225S |
Chr.17:
40264849-40264849
on Build GRCh38
|
| 6822730 |
c.710T>C |
p.V237A |
Chr.17:
40264886-40264886
on Build GRCh38
|
| 4151601 |
c.752C>T |
p.P251L |
Chr.17:
40264928-40264928
on Build GRCh38
|
| 5788875 |
c.649C>T |
p.L217F |
Chr.17:
40264825-40264825
on Build GRCh38
|
| 2838877 |
c.863C>T |
p.P288L |
Chr.17:
40265039-40265039
on Build GRCh38
|
| 270555 |
c.669A>T |
p.G223G |
Chr.17:
40264845-40264845
on Build GRCh38
|
| 4066146 |
c.756T>G |
p.P252P |
Chr.17:
40264932-40264932
on Build GRCh38
|
| 5429183 |
c.751C>T |
p.P251S |
Chr.17:
40264927-40264927
on Build GRCh38
|
| 242256 |
c.647G>A |
p.R216K |
Chr.17:
40264823-40264823
on Build GRCh38
|
| 3889619 |
c.798T>C |
p.S266S |
Chr.17:
40264974-40264974
on Build GRCh38
|
| 6556349 |
c.775C>T |
p.P259S |
Chr.17:
40264951-40264951
on Build GRCh38
|
| 7161317 |
c.767G>T |
p.R256L |
Chr.17:
40264943-40264943
on Build GRCh38
|
| 1720991 |
c.654C>T |
p.H218H |
Chr.17:
40264830-40264830
on Build GRCh38
|