4804795 |
c.386C>A |
p.P129Q |
Chr.1:
24336586-24336586
on Build GRCh38
|
6051373 |
c.403delT |
p.L135fs*78 |
Chr.1:
24336618-24336618
on Build GRCh38
|
2052002 |
c.415T>G |
p.L139V |
Chr.1:
24336630-24336630
on Build GRCh38
|
4751356 |
c.546C>G |
p.N182K |
Chr.1:
24336746-24336746
on Build GRCh38
|
2051997 |
c.317C>T |
p.T106I |
Chr.1:
24336517-24336517
on Build GRCh38
|
5964041 |
c.319C>G |
p.P107A |
Chr.1:
24336519-24336519
on Build GRCh38
|
6854955 |
c.309G>A |
p.T103T |
Chr.1:
24336509-24336509
on Build GRCh38
|
6854954 |
c.294G>A |
p.T98T |
Chr.1:
24336509-24336509
on Build GRCh38
|
679567 |
c.466G>T |
p.G156C |
Chr.1:
24336666-24336666
on Build GRCh38
|
4751353 |
c.449C>T |
p.A150V |
Chr.1:
24336664-24336664
on Build GRCh38
|
5887573 |
c.427G>A |
p.A143T |
Chr.1:
24336627-24336627
on Build GRCh38
|
1584341 |
c.345G>T |
p.E115D |
Chr.1:
24336560-24336560
on Build GRCh38
|
3486486 |
c.454C>T |
p.P152S |
Chr.1:
24336654-24336654
on Build GRCh38
|
4495783 |
c.460C>T |
p.P154S |
Chr.1:
24336660-24336660
on Build GRCh38
|
906841 |
c.360G>T |
p.E120D |
Chr.1:
24336560-24336560
on Build GRCh38
|
4495782 |
c.445C>T |
p.P149S |
Chr.1:
24336660-24336660
on Build GRCh38
|
5502183 |
c.321C>A |
p.P107P |
Chr.1:
24336521-24336521
on Build GRCh38
|
4172144 |
c.437C>T |
p.T146I |
Chr.1:
24336637-24336637
on Build GRCh38
|
3486485 |
c.439C>T |
p.P147S |
Chr.1:
24336654-24336654
on Build GRCh38
|
5502182 |
c.306C>A |
p.P102P |
Chr.1:
24336521-24336521
on Build GRCh38
|
6125506 |
c.528C>T |
p.L176L |
Chr.1:
24336743-24336743
on Build GRCh38
|
2149733 |
c.497C>T |
p.P166L |
Chr.1:
24336712-24336712
on Build GRCh38
|
6125505 |
c.548C>T |
p.S183F |
Chr.1:
24336748-24336748
on Build GRCh38
|
2149734 |
c.512C>T |
p.P171L |
Chr.1:
24336712-24336712
on Build GRCh38
|
7091049 |
c.406_407insA |
p.A138fs*32 |
Chr.1:
24336621-24336622
on Build GRCh38
|
6051374 |
c.418delT |
p.L140fs*78 |
Chr.1:
24336618-24336618
on Build GRCh38
|
7091050 |
c.421_422insA |
p.A143fs*32 |
Chr.1:
24336621-24336622
on Build GRCh38
|
2051996 |
c.302C>T |
p.T101I |
Chr.1:
24336517-24336517
on Build GRCh38
|
4030438 |
c.372A>G |
p.G124G |
Chr.1:
24336572-24336572
on Build GRCh38
|
5964040 |
c.304C>G |
p.P102A |
Chr.1:
24336519-24336519
on Build GRCh38
|
2052003 |
c.430T>G |
p.L144V |
Chr.1:
24336630-24336630
on Build GRCh38
|
4751354 |
c.464C>T |
p.A155V |
Chr.1:
24336664-24336664
on Build GRCh38
|
4804794 |
c.371C>A |
p.P124Q |
Chr.1:
24336586-24336586
on Build GRCh38
|
679568 |
c.319C>A |
p.P107T |
Chr.1:
24336519-24336519
on Build GRCh38
|
4030437 |
c.357A>G |
p.G119G |
Chr.1:
24336572-24336572
on Build GRCh38
|
4751355 |
c.531C>G |
p.N177K |
Chr.1:
24336746-24336746
on Build GRCh38
|
5887572 |
c.412G>A |
p.A138T |
Chr.1:
24336627-24336627
on Build GRCh38
|
5846070 |
c.322C>A |
p.H108N |
Chr.1:
24336537-24336537
on Build GRCh38
|
5846071 |
c.337C>A |
p.H113N |
Chr.1:
24336537-24336537
on Build GRCh38
|
4547551 |
c.425G>A |
p.G142E |
Chr.1:
24336625-24336625
on Build GRCh38
|
3486488 |
c.455C>T |
p.P152L |
Chr.1:
24336655-24336655
on Build GRCh38
|
4517897 |
c.455_456CC>TT |
p.P152L |
Chr.1:
24336655-24336656
on Build GRCh38
|
5603696 |
c.320C>T |
p.P107L |
Chr.1:
24336520-24336520
on Build GRCh38
|
4547550 |
c.410G>A |
p.G137E |
Chr.1:
24336625-24336625
on Build GRCh38
|
5603695 |
c.305C>T |
p.P102L |
Chr.1:
24336520-24336520
on Build GRCh38
|
4517896 |
c.440_441CC>TT |
p.P147L |
Chr.1:
24336655-24336656
on Build GRCh38
|
3486487 |
c.440C>T |
p.P147L |
Chr.1:
24336655-24336655
on Build GRCh38
|
5369523 |
c.377C>T |
p.P126L |
Chr.1:
24336577-24336577
on Build GRCh38
|
6125504 |
c.533C>T |
p.S178F |
Chr.1:
24336748-24336748
on Build GRCh38
|
5369522 |
c.362C>T |
p.P121L |
Chr.1:
24336577-24336577
on Build GRCh38
|
6125507 |
c.543C>T |
p.L181L |
Chr.1:
24336743-24336743
on Build GRCh38
|
4172143 |
c.422C>T |
p.T141I |
Chr.1:
24336637-24336637
on Build GRCh38
|