4958410 |
c.123A>G |
p.L41L |
Chr.1:
196902485-196902485
on Build GRCh38
|
7094327 |
c.191G>A |
p.G64E |
Chr.1:
196902553-196902553
on Build GRCh38
|
6060109 |
c.71G>T |
p.C24F |
Chr.1:
196902430-196902430
on Build GRCh38
|
1727394 |
c.87A>T |
p.Q29H |
Chr.1:
196902449-196902449
on Build GRCh38
|
5590184 |
c.59-1G>A |
p.? |
Chr.1:
196902417-196902417
on Build GRCh38
|
678414 |
c.129C>A |
p.Y43* |
Chr.1:
196902488-196902488
on Build GRCh38
|
3480870 |
c.79C>T |
p.P27S |
Chr.1:
196902438-196902438
on Build GRCh38
|
7178117 |
c.99A>G |
p.L33L |
Chr.1:
196902461-196902461
on Build GRCh38
|
5528596 |
c.88C>T |
p.Q30* |
Chr.1:
196902447-196902447
on Build GRCh38
|
6029186 |
c.160T>C |
p.Y54H |
Chr.1:
196902522-196902522
on Build GRCh38
|
5695715 |
c.89A>G |
p.H30R |
Chr.1:
196902451-196902451
on Build GRCh38
|
4576715 |
c.125A>T |
p.Y42F |
Chr.1:
196902487-196902487
on Build GRCh38
|
4958411 |
c.126A>G |
p.L42L |
Chr.1:
196902485-196902485
on Build GRCh38
|
4564022 |
c.191_192GA>AT |
p.G64D |
Chr.1:
196902553-196902554
on Build GRCh38
|
901567 |
c.178T>G |
p.F60V |
Chr.1:
196902537-196902537
on Build GRCh38
|
901568 |
c.188C>T |
p.S63L |
Chr.1:
196902550-196902550
on Build GRCh38
|
5163234 |
c.188_190delCTT |
p.S64delS |
Chr.1:
196902547-196902549
on Build GRCh38
|
678411 |
c.164G>T |
p.C55F |
Chr.1:
196902526-196902526
on Build GRCh38
|
1637095 |
c.74T>C |
p.F25S |
Chr.1:
196902436-196902436
on Build GRCh38
|
1637096 |
c.77T>C |
p.F26S |
Chr.1:
196902436-196902436
on Build GRCh38
|
374945 |
c.61A>C |
p.K21Q |
Chr.1:
196902423-196902423
on Build GRCh38
|
7361043 |
c.103T>C |
p.Y35H |
Chr.1:
196902462-196902462
on Build GRCh38
|
5163233 |
c.185_187delCTT |
p.S63delS |
Chr.1:
196902547-196902549
on Build GRCh38
|
3480869 |
c.76C>T |
p.P26S |
Chr.1:
196902438-196902438
on Build GRCh38
|
901563 |
c.74A>G |
p.D25G |
Chr.1:
196902433-196902433
on Build GRCh38
|
901564 |
c.156C>A |
p.S52S |
Chr.1:
196902518-196902518
on Build GRCh38
|
4452308 |
c.176A>T |
p.N59I |
Chr.1:
196902535-196902535
on Build GRCh38
|
6060108 |
c.68G>T |
p.C23F |
Chr.1:
196902430-196902430
on Build GRCh38
|
6336068 |
c.156T>C |
p.Y52Y |
Chr.1:
196902515-196902515
on Build GRCh38
|
4954590 |
c.104A>G |
p.Y35C |
Chr.1:
196902466-196902466
on Build GRCh38
|
424928 |
c.164A>G |
p.Y55C |
Chr.1:
196902523-196902523
on Build GRCh38
|
3480868 |
c.79C>G |
p.P27A |
Chr.1:
196902438-196902438
on Build GRCh38
|
678412 |
c.167G>T |
p.C56F |
Chr.1:
196902526-196902526
on Build GRCh38
|
901569 |
c.191C>T |
p.S64L |
Chr.1:
196902550-196902550
on Build GRCh38
|
6029187 |
c.163T>C |
p.Y55H |
Chr.1:
196902522-196902522
on Build GRCh38
|
901566 |
c.175T>G |
p.F59V |
Chr.1:
196902537-196902537
on Build GRCh38
|
3863964 |
c.188C>T |
p.P63L |
Chr.1:
196902547-196902547
on Build GRCh38
|
3863963 |
c.185C>T |
p.P62L |
Chr.1:
196902547-196902547
on Build GRCh38
|
1337502 |
c.127_128insA |
p.F43fs*14 |
Chr.1:
196902489-196902490
on Build GRCh38
|
901565 |
c.159C>A |
p.S53S |
Chr.1:
196902518-196902518
on Build GRCh38
|
5590183 |
c.59-4G>A |
p.? |
Chr.1:
196902417-196902417
on Build GRCh38
|
3400150 |
c.119G>A |
p.R40H |
Chr.1:
196902478-196902478
on Build GRCh38
|
159964 |
c.69T>A |
p.C23* |
Chr.1:
196902431-196902431
on Build GRCh38
|
5528595 |
c.85C>T |
p.Q29* |
Chr.1:
196902447-196902447
on Build GRCh38
|
6336067 |
c.153T>C |
p.Y51Y |
Chr.1:
196902515-196902515
on Build GRCh38
|
678413 |
c.126C>A |
p.Y42* |
Chr.1:
196902488-196902488
on Build GRCh38
|
5117397 |
c.174A>C |
p.Q58H |
Chr.1:
196902533-196902533
on Build GRCh38
|
7361042 |
c.100T>C |
p.Y34H |
Chr.1:
196902462-196902462
on Build GRCh38
|
4452307 |
c.173A>T |
p.N58I |
Chr.1:
196902535-196902535
on Build GRCh38
|
159963 |
c.72T>A |
p.C24* |
Chr.1:
196902431-196902431
on Build GRCh38
|
4576716 |
c.128A>T |
p.Y43F |
Chr.1:
196902487-196902487
on Build GRCh38
|
901562 |
c.71A>G |
p.D24G |
Chr.1:
196902433-196902433
on Build GRCh38
|
83959 |
c.169G>A |
p.D57N |
Chr.1:
196902528-196902528
on Build GRCh38
|
4954591 |
c.107A>G |
p.Y36C |
Chr.1:
196902466-196902466
on Build GRCh38
|
374946 |
c.64A>C |
p.K22Q |
Chr.1:
196902423-196902423
on Build GRCh38
|
3480867 |
c.76C>G |
p.P26A |
Chr.1:
196902438-196902438
on Build GRCh38
|
6627519 |
c.88C>A |
p.Q30K |
Chr.1:
196902447-196902447
on Build GRCh38
|
1727395 |
c.90A>T |
p.Q30H |
Chr.1:
196902449-196902449
on Build GRCh38
|
7178118 |
c.102A>G |
p.L34L |
Chr.1:
196902461-196902461
on Build GRCh38
|
6627518 |
c.85C>A |
p.Q29K |
Chr.1:
196902447-196902447
on Build GRCh38
|
424927 |
c.161A>G |
p.Y54C |
Chr.1:
196902523-196902523
on Build GRCh38
|
1337503 |
c.130_131insA |
p.F44fs*14 |
Chr.1:
196902489-196902490
on Build GRCh38
|
5695716 |
c.92A>G |
p.H31R |
Chr.1:
196902451-196902451
on Build GRCh38
|
7094328 |
c.194G>A |
p.G65E |
Chr.1:
196902553-196902553
on Build GRCh38
|
5117396 |
c.171A>C |
p.Q57H |
Chr.1:
196902533-196902533
on Build GRCh38
|
3400149 |
c.116G>A |
p.R39H |
Chr.1:
196902478-196902478
on Build GRCh38
|
4564023 |
c.194_195GA>AT |
p.G65D |
Chr.1:
196902553-196902554
on Build GRCh38
|