902495 |
c.648C>T |
p.Y216Y |
Chr.1:
203699716-203699716
on Build GRCh38
|
5771503 |
c.415C>G |
p.P139A |
Chr.1:
203699483-203699483
on Build GRCh38
|
6904928 |
c.415C>A |
p.P139T |
Chr.1:
203699483-203699483
on Build GRCh38
|
159275 |
c.522G>C |
p.E174D |
Chr.1:
203699590-203699590
on Build GRCh38
|
4664385 |
c.581G>A |
p.R194Q |
Chr.1:
203699649-203699649
on Build GRCh38
|
6124133 |
c.483C>T |
p.I161I |
Chr.1:
203699551-203699551
on Build GRCh38
|
463787 |
c.546C>T |
p.C182C |
Chr.1:
203699614-203699614
on Build GRCh38
|
7132839 |
c.513G>C |
p.W171C |
Chr.1:
203699581-203699581
on Build GRCh38
|
6607810 |
c.533G>A |
p.R178Q |
Chr.1:
203699601-203699601
on Build GRCh38
|
6341168 |
c.586G>T |
p.G196C |
Chr.1:
203699654-203699654
on Build GRCh38
|
7135831 |
c.477G>T |
p.V159V |
Chr.1:
203699545-203699545
on Build GRCh38
|
5845179 |
c.457G>A |
p.A153T |
Chr.1:
203699525-203699525
on Build GRCh38
|
6124132 |
c.483C>T |
p.I161I |
Chr.1:
203699551-203699551
on Build GRCh38
|
7276916 |
c.406G>A |
p.A136T |
Chr.1:
203699474-203699474
on Build GRCh38
|
6607817 |
c.635C>T |
p.A212V |
Chr.1:
203699703-203699703
on Build GRCh38
|
2213787 |
c.547C>T |
p.R183C |
Chr.1:
203699615-203699615
on Build GRCh38
|
902494 |
c.582delA |
p.N195fs*32 |
Chr.1:
203699650-203699650
on Build GRCh38
|
5845178 |
c.457G>A |
p.A153T |
Chr.1:
203699525-203699525
on Build GRCh38
|
2213786 |
c.532C>T |
p.R178W |
Chr.1:
203699600-203699600
on Build GRCh38
|
4027192 |
c.491T>A |
p.L164* |
Chr.1:
203699559-203699559
on Build GRCh38
|
1184085 |
c.604C>T |
p.P202S |
Chr.1:
203699672-203699672
on Build GRCh38
|
6607816 |
c.635C>T |
p.A212V |
Chr.1:
203699703-203699703
on Build GRCh38
|
3803525 |
c.587G>C |
p.G196A |
Chr.1:
203699655-203699655
on Build GRCh38
|
3481882 |
c.468T>C |
p.L156L |
Chr.1:
203699536-203699536
on Build GRCh38
|
4664386 |
c.581G>A |
p.R194Q |
Chr.1:
203699649-203699649
on Build GRCh38
|
3481885 |
c.570C>T |
p.F190F |
Chr.1:
203699638-203699638
on Build GRCh38
|
6904929 |
c.415C>A |
p.P139T |
Chr.1:
203699483-203699483
on Build GRCh38
|
7263997 |
c.542A>G |
p.Q181R |
Chr.1:
203699610-203699610
on Build GRCh38
|
6035003 |
c.392-22_392-1del22 |
p.? |
Chr.1:
203699438-203699459
on Build GRCh38
|
5934230 |
c.572C>T |
p.S191F |
Chr.1:
203699640-203699640
on Build GRCh38
|
1338009 |
c.529delT |
p.F177fs*50 |
Chr.1:
203699597-203699597
on Build GRCh38
|
159276 |
c.415C>G |
p.P139A |
Chr.1:
203699483-203699483
on Build GRCh38
|
7166430 |
c.480C>G |
p.I160M |
Chr.1:
203699548-203699548
on Build GRCh38
|
4664383 |
c.574A>G |
p.I192V |
Chr.1:
203699642-203699642
on Build GRCh38
|
4823380 |
c.594C>T |
p.L198L |
Chr.1:
203699662-203699662
on Build GRCh38
|
6607811 |
c.533G>A |
p.R178Q |
Chr.1:
203699601-203699601
on Build GRCh38
|
3803524 |
c.587G>C |
p.G196A |
Chr.1:
203699655-203699655
on Build GRCh38
|
238896 |
c.457delG |
p.A153fs*7 |
Chr.1:
203699525-203699525
on Build GRCh38
|
902493 |
c.582delA |
p.N195fs*32 |
Chr.1:
203699650-203699650
on Build GRCh38
|
7135832 |
c.477G>T |
p.V159V |
Chr.1:
203699545-203699545
on Build GRCh38
|
5558701 |
c.492A>T |
p.L164F |
Chr.1:
203699560-203699560
on Build GRCh38
|
6035002 |
c.392-22_392-1del22 |
p.? |
Chr.1:
203699438-203699459
on Build GRCh38
|
4764414 |
c.649G>A |
p.G217S |
Chr.1:
203699717-203699717
on Build GRCh38
|
3481884 |
c.570C>T |
p.F190F |
Chr.1:
203699638-203699638
on Build GRCh38
|
7132838 |
c.513G>C |
p.W171C |
Chr.1:
203699581-203699581
on Build GRCh38
|
219547 |
c.522G>C |
p.E174D |
Chr.1:
203699590-203699590
on Build GRCh38
|
1184084 |
c.604C>T |
p.P202S |
Chr.1:
203699672-203699672
on Build GRCh38
|
4823379 |
c.594C>T |
p.L198L |
Chr.1:
203699662-203699662
on Build GRCh38
|
7263998 |
c.542A>G |
p.Q181R |
Chr.1:
203699610-203699610
on Build GRCh38
|
4764413 |
c.649G>A |
p.G217S |
Chr.1:
203699717-203699717
on Build GRCh38
|
4027193 |
c.491T>A |
p.L164* |
Chr.1:
203699559-203699559
on Build GRCh38
|
238895 |
c.457delG |
p.A153fs*7 |
Chr.1:
203699525-203699525
on Build GRCh38
|
6341167 |
c.586G>T |
p.G196C |
Chr.1:
203699654-203699654
on Build GRCh38
|
902496 |
c.648C>T |
p.Y216Y |
Chr.1:
203699716-203699716
on Build GRCh38
|
2213785 |
c.532C>T |
p.R178W |
Chr.1:
203699600-203699600
on Build GRCh38
|
5934231 |
c.572C>T |
p.S191F |
Chr.1:
203699640-203699640
on Build GRCh38
|
4229510 |
c.580C>T |
p.R194* |
Chr.1:
203699648-203699648
on Build GRCh38
|
7166429 |
c.480C>G |
p.I160M |
Chr.1:
203699548-203699548
on Build GRCh38
|
2213788 |
c.547C>T |
p.R183C |
Chr.1:
203699615-203699615
on Build GRCh38
|
4664384 |
c.574A>G |
p.I192V |
Chr.1:
203699642-203699642
on Build GRCh38
|
3481883 |
c.468T>C |
p.L156L |
Chr.1:
203699536-203699536
on Build GRCh38
|
463788 |
c.546C>T |
p.C182C |
Chr.1:
203699614-203699614
on Build GRCh38
|
5558702 |
c.492A>T |
p.L164F |
Chr.1:
203699560-203699560
on Build GRCh38
|
4229509 |
c.580C>T |
p.R194* |
Chr.1:
203699648-203699648
on Build GRCh38
|
1338008 |
c.529delT |
p.F177fs*50 |
Chr.1:
203699597-203699597
on Build GRCh38
|
7276915 |
c.406G>A |
p.A136T |
Chr.1:
203699474-203699474
on Build GRCh38
|