5170465 |
c.393C>A |
p.N131K |
Chr.1:
161711350-161711350
on Build GRCh38
|
3965967 |
c.366C>T |
p.P122P |
Chr.1:
161711341-161711341
on Build GRCh38
|
1335695 |
c.564C>T |
p.V188V |
Chr.1:
161711470-161711470
on Build GRCh38
|
7368098 |
c.472G>A |
p.A158T |
Chr.1:
161711447-161711447
on Build GRCh38
|
2087386 |
c.361C>T |
p.P121S |
Chr.1:
161711336-161711336
on Build GRCh38
|
4599826 |
c.410G>T |
p.R137L |
Chr.1:
161711316-161711316
on Build GRCh38
|
1319803 |
c.451_458delTTCTCCAT |
p.F151fs*51 |
Chr.1:
161711357-161711364
on Build GRCh38
|
4599827 |
c.341G>T |
p.R114L |
Chr.1:
161711316-161711316
on Build GRCh38
|
3477316 |
c.386G>A |
p.G129E |
Chr.1:
161711343-161711343
on Build GRCh38
|
7368097 |
c.541G>A |
p.A181T |
Chr.1:
161711447-161711447
on Build GRCh38
|
3965966 |
c.435C>T |
p.P145P |
Chr.1:
161711341-161711341
on Build GRCh38
|
6221898 |
c.385G>T |
p.G129W |
Chr.1:
161711342-161711342
on Build GRCh38
|
3477317 |
c.457A>G |
p.I153V |
Chr.1:
161711363-161711363
on Build GRCh38
|
4024429 |
c.425C>A |
p.A142E |
Chr.1:
161711382-161711382
on Build GRCh38
|
7368102 |
c.491C>A |
p.A164E |
Chr.1:
161711448-161711448
on Build GRCh38
|
4975731 |
c.390T>A |
p.P130P |
Chr.1:
161711347-161711347
on Build GRCh38
|
4548454 |
c.447G>A |
p.R149R |
Chr.1:
161711353-161711353
on Build GRCh38
|
4548455 |
c.378G>A |
p.R126R |
Chr.1:
161711353-161711353
on Build GRCh38
|
3477315 |
c.368G>A |
p.G123E |
Chr.1:
161711343-161711343
on Build GRCh38
|
5888551 |
c.358G>A |
p.G120S |
Chr.1:
161711333-161711333
on Build GRCh38
|
6582965 |
c.406T>A |
p.Y136N |
Chr.1:
161711312-161711312
on Build GRCh38
|
4494362 |
c.431C>T |
p.P144L |
Chr.1:
161711337-161711337
on Build GRCh38
|
4494363 |
c.362C>T |
p.P121L |
Chr.1:
161711337-161711337
on Build GRCh38
|
5777240 |
c.567A>T |
p.Q189H |
Chr.1:
161711473-161711473
on Build GRCh38
|
6582966 |
c.337T>A |
p.Y113N |
Chr.1:
161711312-161711312
on Build GRCh38
|
3965968 |
c.384C>T |
p.P128P |
Chr.1:
161711341-161711341
on Build GRCh38
|
1319804 |
c.382_389delTTCTCCAT |
p.F128fs*51 |
Chr.1:
161711357-161711364
on Build GRCh38
|
4024427 |
c.476C>A |
p.A159E |
Chr.1:
161711382-161711382
on Build GRCh38
|
320403 |
c.454C>T |
p.P152S |
Chr.1:
161711429-161711429
on Build GRCh38
|
4024428 |
c.407C>A |
p.A136E |
Chr.1:
161711382-161711382
on Build GRCh38
|
5827566 |
c.513C>T |
p.V171V |
Chr.1:
161711470-161711470
on Build GRCh38
|
3477319 |
c.406A>G |
p.I136V |
Chr.1:
161711363-161711363
on Build GRCh38
|
2087385 |
c.430C>T |
p.P144S |
Chr.1:
161711336-161711336
on Build GRCh38
|
4499042 |
c.481C>T |
p.P161S |
Chr.1:
161711438-161711438
on Build GRCh38
|
7368101 |
c.473C>A |
p.A158E |
Chr.1:
161711448-161711448
on Build GRCh38
|
6221897 |
c.367G>T |
p.G123W |
Chr.1:
161711342-161711342
on Build GRCh38
|
1335694 |
c.444C>A |
p.N148K |
Chr.1:
161711350-161711350
on Build GRCh38
|
7368100 |
c.542C>A |
p.A181E |
Chr.1:
161711448-161711448
on Build GRCh38
|
3477313 |
c.379C>T |
p.P127S |
Chr.1:
161711336-161711336
on Build GRCh38
|
6221896 |
c.436G>T |
p.G146W |
Chr.1:
161711342-161711342
on Build GRCh38
|
6486686 |
c.411C>T |
p.T137T |
Chr.1:
161711368-161711368
on Build GRCh38
|
4024432 |
c.433G>A |
p.G145R |
Chr.1:
161711390-161711390
on Build GRCh38
|
354075 |
c.404A>C |
p.K135T |
Chr.1:
161711379-161711379
on Build GRCh38
|
676621 |
c.378G>T |
p.R126S |
Chr.1:
161711353-161711353
on Build GRCh38
|
3477314 |
c.437G>A |
p.G146E |
Chr.1:
161711343-161711343
on Build GRCh38
|
4024426 |
c.359G>A |
p.R120Q |
Chr.1:
161711316-161711316
on Build GRCh38
|
4499040 |
c.532C>T |
p.P178S |
Chr.1:
161711438-161711438
on Build GRCh38
|
7368099 |
c.490G>A |
p.A164T |
Chr.1:
161711447-161711447
on Build GRCh38
|
372558 |
c.375C>A |
p.N125K |
Chr.1:
161711350-161711350
on Build GRCh38
|
676620 |
c.447G>T |
p.R149S |
Chr.1:
161711353-161711353
on Build GRCh38
|
5777241 |
c.498A>T |
p.Q166H |
Chr.1:
161711473-161711473
on Build GRCh38
|
4548456 |
c.396G>A |
p.R132R |
Chr.1:
161711353-161711353
on Build GRCh38
|
6486684 |
c.462C>T |
p.T154T |
Chr.1:
161711368-161711368
on Build GRCh38
|
4499041 |
c.463C>T |
p.P155S |
Chr.1:
161711438-161711438
on Build GRCh38
|
4599828 |
c.359G>T |
p.R120L |
Chr.1:
161711316-161711316
on Build GRCh38
|
5888550 |
c.427G>A |
p.G143S |
Chr.1:
161711333-161711333
on Build GRCh38
|
1335696 |
c.495C>T |
p.V165V |
Chr.1:
161711470-161711470
on Build GRCh38
|
3477318 |
c.388A>G |
p.I130V |
Chr.1:
161711363-161711363
on Build GRCh38
|
4024431 |
c.415G>A |
p.G139R |
Chr.1:
161711390-161711390
on Build GRCh38
|
5888552 |
c.376G>A |
p.G126S |
Chr.1:
161711333-161711333
on Build GRCh38
|
4975729 |
c.441T>A |
p.P147P |
Chr.1:
161711347-161711347
on Build GRCh38
|
4024424 |
c.410G>A |
p.R137Q |
Chr.1:
161711316-161711316
on Build GRCh38
|
4975730 |
c.372T>A |
p.P124P |
Chr.1:
161711347-161711347
on Build GRCh38
|
5777242 |
c.516A>T |
p.Q172H |
Chr.1:
161711473-161711473
on Build GRCh38
|
4024425 |
c.341G>A |
p.R114Q |
Chr.1:
161711316-161711316
on Build GRCh38
|
6486685 |
c.393C>T |
p.T131T |
Chr.1:
161711368-161711368
on Build GRCh38
|
4024430 |
c.484G>A |
p.G162R |
Chr.1:
161711390-161711390
on Build GRCh38
|
6582967 |
c.355T>A |
p.Y119N |
Chr.1:
161711312-161711312
on Build GRCh38
|
4494364 |
c.380C>T |
p.P127L |
Chr.1:
161711337-161711337
on Build GRCh38
|