1172896 |
c.197G>A |
p.R66H |
Chr.2:
75493498-75493498
on Build GRCh38
|
6351616 |
c.157C>T |
p.L53L |
Chr.2:
75493538-75493538
on Build GRCh38
|
3583460 |
c.162G>A |
p.V54V |
Chr.2:
75493533-75493533
on Build GRCh38
|
5713063 |
c.244_252delAGCGACAGC |
p.S82_S84delSDS |
Chr.2:
75493443-75493451
on Build GRCh38
|
325305 |
c.202G>T |
p.G68W |
Chr.2:
75493493-75493493
on Build GRCh38
|
3407997 |
c.288C>T |
p.S96S |
Chr.2:
75493407-75493407
on Build GRCh38
|
139388 |
c.287C>T |
p.S96F |
Chr.2:
75493408-75493408
on Build GRCh38
|
6656796 |
c.267G>A |
p.E89E |
Chr.2:
75493428-75493428
on Build GRCh38
|
4095858 |
c.252C>T |
p.S84S |
Chr.2:
75493443-75493443
on Build GRCh38
|
1409635 |
c.279C>T |
p.S93S |
Chr.2:
75493416-75493416
on Build GRCh38
|
3840079 |
c.207G>T |
p.K69N |
Chr.2:
75493488-75493488
on Build GRCh38
|
1284830 |
c.100G>A |
p.A34T |
Chr.2:
75493595-75493595
on Build GRCh38
|
1690739 |
c.206A>G |
p.K69R |
Chr.2:
75493489-75493489
on Build GRCh38
|
7228817 |
c.168G>A |
p.R56R |
Chr.2:
75493527-75493527
on Build GRCh38
|
4440733 |
c.86-2A>G |
p.? |
Chr.2:
75493611-75493611
on Build GRCh38
|
7155372 |
c.278C>T |
p.S93F |
Chr.2:
75493417-75493417
on Build GRCh38
|
1409636 |
c.246C>T |
p.S82S |
Chr.2:
75493449-75493449
on Build GRCh38
|
1615131 |
c.192G>A |
p.R64R |
Chr.2:
75493503-75493503
on Build GRCh38
|
5461622 |
c.194G>A |
p.R65Q |
Chr.2:
75493501-75493501
on Build GRCh38
|
3000164 |
c.310G>A |
p.E104K |
Chr.2:
75493385-75493385
on Build GRCh38
|
4945772 |
c.273C>A |
p.T91T |
Chr.2:
75493422-75493422
on Build GRCh38
|
4980772 |
c.304C>T |
p.R102C |
Chr.2:
75493391-75493391
on Build GRCh38
|
3583459 |
c.294G>A |
p.R98R |
Chr.2:
75493401-75493401
on Build GRCh38
|
1023128 |
c.177C>G |
p.C59W |
Chr.2:
75493518-75493518
on Build GRCh38
|
1165625 |
c.280G>A |
p.D94N |
Chr.2:
75493415-75493415
on Build GRCh38
|
3380222 |
c.289G>A |
p.V97M |
Chr.2:
75493406-75493406
on Build GRCh38
|
5646027 |
c.300C>T |
p.H100H |
Chr.2:
75493395-75493395
on Build GRCh38
|
3426693 |
c.111C>T |
p.Y37Y |
Chr.2:
75493584-75493584
on Build GRCh38
|
5807424 |
c.283C>T |
p.L95F |
Chr.2:
75493412-75493412
on Build GRCh38
|
4095859 |
c.142C>T |
p.L48L |
Chr.2:
75493553-75493553
on Build GRCh38
|
1307016 |
c.184G>C |
p.D62H |
Chr.2:
75493511-75493511
on Build GRCh38
|
4135226 |
c.286T>C |
p.S96P |
Chr.2:
75493409-75493409
on Build GRCh38
|
6356434 |
c.301C>T |
p.R101C |
Chr.2:
75493394-75493394
on Build GRCh38
|
3963092 |
c.138G>C |
p.L46L |
Chr.2:
75493557-75493557
on Build GRCh38
|
1242257 |
c.258T>C |
p.D86D |
Chr.2:
75493437-75493437
on Build GRCh38
|
7323666 |
c.274G>A |
p.V92M |
Chr.2:
75493421-75493421
on Build GRCh38
|
2153145 |
c.132C>T |
p.I44I |
Chr.2:
75493563-75493563
on Build GRCh38
|
4539449 |
c.268G>A |
p.D90N |
Chr.2:
75493427-75493427
on Build GRCh38
|
256907 |
c.247G>A |
p.D83N |
Chr.2:
75493448-75493448
on Build GRCh38
|
4825584 |
c.98G>A |
p.R33Q |
Chr.2:
75493597-75493597
on Build GRCh38
|
7156305 |
c.228G>A |
p.E76E |
Chr.2:
75493467-75493467
on Build GRCh38
|
1409637 |
c.207G>A |
p.K69K |
Chr.2:
75493488-75493488
on Build GRCh38
|
4164587 |
c.115G>C |
p.V39L |
Chr.2:
75493580-75493580
on Build GRCh38
|
7228620 |
c.169A>T |
p.I57F |
Chr.2:
75493526-75493526
on Build GRCh38
|
1683861 |
c.231_239delCAGCAGCGA |
p.S82_S84delSDS |
Chr.2:
75493456-75493464
on Build GRCh38
|
3000163 |
c.314G>A |
p.R105K |
Chr.2:
75493381-75493381
on Build GRCh38
|
5059077 |
c.124G>A |
p.V42M |
Chr.2:
75493571-75493571
on Build GRCh38
|
3000169 |
c.145A>T |
p.T49S |
Chr.2:
75493550-75493550
on Build GRCh38
|
5446008 |
c.245_253delGCGACAGCG |
p.S82_E85>K |
Chr.2:
75493442-75493450
on Build GRCh38
|
4952451 |
c.255G>T |
p.E85D |
Chr.2:
75493440-75493440
on Build GRCh38
|