| 4029795 |
c.1447C>T |
p.R483C |
Chr.1:
23310909-23310909
on Build GRCh38
|
| 905988 |
c.1407T>G |
p.D469E |
Chr.1:
23310949-23310949
on Build GRCh38
|
| 5887577 |
c.1333C>T |
p.P445S |
Chr.1:
23311023-23311023
on Build GRCh38
|
| 1581037 |
c.1444T>C |
p.Y482H |
Chr.1:
23310912-23310912
on Build GRCh38
|
| 4029799 |
c.1352G>A |
p.R451H |
Chr.1:
23311004-23311004
on Build GRCh38
|
| 4690887 |
c.1351C>T |
p.R451C |
Chr.1:
23311005-23311005
on Build GRCh38
|
| 7371383 |
c.1523G>T |
p.G508V |
Chr.1:
23310833-23310833
on Build GRCh38
|
| 1340394 |
c.1372T>A |
p.Y458N |
Chr.1:
23310984-23310984
on Build GRCh38
|
| 98089 |
c.1505G>C |
p.R502T |
Chr.1:
23310851-23310851
on Build GRCh38
|
| 6681401 |
c.1445A>G |
p.Y482C |
Chr.1:
23310911-23310911
on Build GRCh38
|
| 1194564 |
c.1432G>C |
p.D478H |
Chr.1:
23310924-23310924
on Build GRCh38
|
| 414560 |
c.1473C>T |
p.Y491Y |
Chr.1:
23310883-23310883
on Build GRCh38
|
| 384871 |
c.1277C>T |
p.S426F |
Chr.1:
23311213-23311213
on Build GRCh38
|
| 5420502 |
c.1360_1362delGGG |
p.G454delG |
Chr.1:
23310994-23310996
on Build GRCh38
|
| 425655 |
c.1357G>T |
p.G453W |
Chr.1:
23310999-23310999
on Build GRCh38
|
| 266677 |
c.1356T>C |
p.G452G |
Chr.1:
23311000-23311000
on Build GRCh38
|
| 5146458 |
c.1525C>T |
p.R509* |
Chr.1:
23310831-23310831
on Build GRCh38
|
| 5353128 |
c.1290-1G>T |
p.? |
Chr.1:
23311067-23311067
on Build GRCh38
|
| 2000552 |
c.1521A>G |
p.G507G |
Chr.1:
23310835-23310835
on Build GRCh38
|
| 5762350 |
c.1421A>T |
p.Y474F |
Chr.1:
23310935-23310935
on Build GRCh38
|
| 7371386 |
c.1483G>A |
p.D495N |
Chr.1:
23310873-23310873
on Build GRCh38
|
| 1340397 |
c.1362G>A |
p.G454G |
Chr.1:
23310994-23310994
on Build GRCh38
|
| 5845928 |
c.1634G>A |
p.G545D |
Chr.1:
23310722-23310722
on Build GRCh38
|
| 5146457 |
c.1525C>T |
p.R509* |
Chr.1:
23310831-23310831
on Build GRCh38
|
| 4029794 |
c.1447C>T |
p.R483C |
Chr.1:
23310909-23310909
on Build GRCh38
|
| 4029798 |
c.1352G>A |
p.R451H |
Chr.1:
23311004-23311004
on Build GRCh38
|
| 1340393 |
c.1405G>A |
p.D469N |
Chr.1:
23310951-23310951
on Build GRCh38
|
| 266678 |
c.1356T>C |
p.G452G |
Chr.1:
23311000-23311000
on Build GRCh38
|
| 1340390 |
c.1440C>T |
p.H480H |
Chr.1:
23310916-23310916
on Build GRCh38
|
| 311829 |
c.1383T>C |
p.P461P |
Chr.1:
23310973-23310973
on Build GRCh38
|
| 4746794 |
c.1533_1534delTC |
p.P512fs*14 |
Chr.1:
23310822-23310823
on Build GRCh38
|
| 5895483 |
c.1465C>T |
p.P489S |
Chr.1:
23310891-23310891
on Build GRCh38
|
| 6681402 |
c.1445A>G |
p.Y482C |
Chr.1:
23310911-23310911
on Build GRCh38
|
| 1194565 |
c.1432G>C |
p.D478H |
Chr.1:
23310924-23310924
on Build GRCh38
|
| 414561 |
c.1473C>T |
p.Y491Y |
Chr.1:
23310883-23310883
on Build GRCh38
|
| 5353127 |
c.1290-1G>T |
p.? |
Chr.1:
23311067-23311067
on Build GRCh38
|
| 905989 |
c.1345C>T |
p.R449W |
Chr.1:
23311011-23311011
on Build GRCh38
|
| 2000551 |
c.1521A>G |
p.G507G |
Chr.1:
23310835-23310835
on Build GRCh38
|
| 425656 |
c.1357G>T |
p.G453W |
Chr.1:
23310999-23310999
on Build GRCh38
|
| 5964664 |
c.1346G>A |
p.R449Q |
Chr.1:
23311010-23311010
on Build GRCh38
|
| 3722081 |
c.1402G>A |
p.E468K |
Chr.1:
23310954-23310954
on Build GRCh38
|
| 1581038 |
c.1417G>A |
p.D473N |
Chr.1:
23310939-23310939
on Build GRCh38
|
| 5420501 |
c.1360_1362delGGG |
p.G454delG |
Chr.1:
23310994-23310996
on Build GRCh38
|
| 5895484 |
c.1465C>T |
p.P489S |
Chr.1:
23310891-23310891
on Build GRCh38
|
| 6300167 |
c.1536A>G |
p.P512P |
Chr.1:
23310820-23310820
on Build GRCh38
|
| 4029797 |
c.1391A>G |
p.Y464C |
Chr.1:
23310965-23310965
on Build GRCh38
|
| 4931592 |
c.1505G>T |
p.R502I |
Chr.1:
23310851-23310851
on Build GRCh38
|
| 3722082 |
c.1402G>A |
p.E468K |
Chr.1:
23310954-23310954
on Build GRCh38
|
| 5964665 |
c.1346G>A |
p.R449Q |
Chr.1:
23311010-23311010
on Build GRCh38
|
| 905990 |
c.1345C>T |
p.R449W |
Chr.1:
23311011-23311011
on Build GRCh38
|
| 98088 |
c.1505G>C |
p.R502T |
Chr.1:
23310851-23310851
on Build GRCh38
|
| 5762351 |
c.1421A>T |
p.Y474F |
Chr.1:
23310935-23310935
on Build GRCh38
|
| 1340392 |
c.1405G>A |
p.D469N |
Chr.1:
23310951-23310951
on Build GRCh38
|
| 5845929 |
c.1634G>A |
p.G545D |
Chr.1:
23310722-23310722
on Build GRCh38
|
| 7371385 |
c.1483G>A |
p.D495N |
Chr.1:
23310873-23310873
on Build GRCh38
|
| 1340396 |
c.1362G>A |
p.G454G |
Chr.1:
23310994-23310994
on Build GRCh38
|
| 680033 |
c.1426G>T |
p.G476C |
Chr.1:
23310930-23310930
on Build GRCh38
|
| 4746795 |
c.1533_1534delTC |
p.P512fs*14 |
Chr.1:
23310822-23310823
on Build GRCh38
|
| 1581039 |
c.1417G>A |
p.D473N |
Chr.1:
23310939-23310939
on Build GRCh38
|
| 5167669 |
c.1397G>A |
p.G466D |
Chr.1:
23310959-23310959
on Build GRCh38
|
| 2000544 |
c.1626T>A |
p.S542S |
Chr.1:
23310730-23310730
on Build GRCh38
|
| 7371384 |
c.1523G>T |
p.G508V |
Chr.1:
23310833-23310833
on Build GRCh38
|
| 1340395 |
c.1372T>A |
p.Y458N |
Chr.1:
23310984-23310984
on Build GRCh38
|
| 5167668 |
c.1397G>A |
p.G466D |
Chr.1:
23310959-23310959
on Build GRCh38
|
| 2000543 |
c.1626T>A |
p.S542S |
Chr.1:
23310730-23310730
on Build GRCh38
|
| 5887576 |
c.1333C>T |
p.P445S |
Chr.1:
23311023-23311023
on Build GRCh38
|
| 311828 |
c.1383T>C |
p.P461P |
Chr.1:
23310973-23310973
on Build GRCh38
|
| 4931591 |
c.1505G>T |
p.R502I |
Chr.1:
23310851-23310851
on Build GRCh38
|
| 1340391 |
c.1440C>T |
p.H480H |
Chr.1:
23310916-23310916
on Build GRCh38
|
| 4029796 |
c.1391A>G |
p.Y464C |
Chr.1:
23310965-23310965
on Build GRCh38
|
| 6300168 |
c.1536A>G |
p.P512P |
Chr.1:
23310820-23310820
on Build GRCh38
|
| 384870 |
c.1277C>T |
p.S426F |
Chr.1:
23311213-23311213
on Build GRCh38
|
| 905987 |
c.1407T>G |
p.D469E |
Chr.1:
23310949-23310949
on Build GRCh38
|
| 1581036 |
c.1444T>C |
p.Y482H |
Chr.1:
23310912-23310912
on Build GRCh38
|
| 4690886 |
c.1351C>T |
p.R451C |
Chr.1:
23311005-23311005
on Build GRCh38
|
| 680034 |
c.1426G>T |
p.G476C |
Chr.1:
23310930-23310930
on Build GRCh38
|