3486221 |
c.604G>A |
p.E202K |
Chr.1:
242124521-242124521
on Build GRCh38
|
5701811 |
c.838_839CC>AA |
p.P280N |
Chr.1:
242124562-242124563
on Build GRCh38
|
5448480 |
c.643A>C |
p.S215R |
Chr.1:
242124572-242124572
on Build GRCh38
|
6125597 |
c.832A>C |
p.R278R |
Chr.1:
242124569-242124569
on Build GRCh38
|
6042431 |
c.657+6T>C |
p.? |
Chr.1:
242124462-242124462
on Build GRCh38
|
1473698 |
c.933G>A |
p.S311S |
Chr.1:
242124468-242124468
on Build GRCh38
|
6439882 |
c.883A>T |
p.K295* |
Chr.1:
242124518-242124518
on Build GRCh38
|
4814463 |
c.747G>A |
p.S249S |
Chr.1:
242124468-242124468
on Build GRCh38
|
1221015 |
c.519G>C |
p.R173S |
Chr.1:
242124606-242124606
on Build GRCh38
|
6356399 |
c.748G>A |
p.G250S |
Chr.1:
242124653-242124653
on Build GRCh38
|
1146270 |
c.789A>G |
p.L263L |
Chr.1:
242124612-242124612
on Build GRCh38
|
4947225 |
c.848G>T |
p.W283L |
Chr.1:
242124553-242124553
on Build GRCh38
|
7151884 |
c.636delC |
p.K213fs*22 |
Chr.1:
242124489-242124489
on Build GRCh38
|
6125599 |
c.556A>C |
p.R186R |
Chr.1:
242124569-242124569
on Build GRCh38
|
5448481 |
c.553A>C |
p.S185R |
Chr.1:
242124572-242124572
on Build GRCh38
|
6893037 |
c.527C>T |
p.A176V |
Chr.1:
242124598-242124598
on Build GRCh38
|
6893036 |
c.617C>T |
p.A206V |
Chr.1:
242124598-242124598
on Build GRCh38
|
1584328 |
c.767G>A |
p.C256Y |
Chr.1:
242124634-242124634
on Build GRCh38
|
1221014 |
c.795G>C |
p.R265S |
Chr.1:
242124606-242124606
on Build GRCh38
|
6748610 |
c.885G>T |
p.K295N |
Chr.1:
242124516-242124516
on Build GRCh38
|
3741143 |
c.501G>T |
p.L167L |
Chr.1:
242124624-242124624
on Build GRCh38
|
5922081 |
c.931T>A |
p.S311T |
Chr.1:
242124470-242124470
on Build GRCh38
|
284085 |
c.657+4A>C |
p.? |
Chr.1:
242124464-242124464
on Build GRCh38
|
5701812 |
c.652_653CC>AA |
p.P218N |
Chr.1:
242124562-242124563
on Build GRCh38
|
3486220 |
c.880G>A |
p.E294K |
Chr.1:
242124521-242124521
on Build GRCh38
|
4559156 |
c.518G>A |
p.R173K |
Chr.1:
242124607-242124607
on Build GRCh38
|
75979 |
c.572G>T |
p.W191L |
Chr.1:
242124553-242124553
on Build GRCh38
|
5454118 |
c.742G>A |
p.E248K |
Chr.1:
242124659-242124659
on Build GRCh38
|
5705357 |
c.613T>A |
p.L205M |
Chr.1:
242124512-242124512
on Build GRCh38
|
4780111 |
c.591G>T |
p.L197L |
Chr.1:
242124624-242124624
on Build GRCh38
|
6748612 |
c.609G>T |
p.K203N |
Chr.1:
242124516-242124516
on Build GRCh38
|
4866515 |
c.581G>A |
p.C194Y |
Chr.1:
242124634-242124634
on Build GRCh38
|
1690063 |
c.749G>A |
p.G250D |
Chr.1:
242124652-242124652
on Build GRCh38
|
3418984 |
c.656C>T |
p.S219L |
Chr.1:
242124469-242124469
on Build GRCh38
|
4559154 |
c.794G>A |
p.R265K |
Chr.1:
242124607-242124607
on Build GRCh38
|
906543 |
c.491G>A |
p.C164Y |
Chr.1:
242124634-242124634
on Build GRCh38
|
1134854 |
c.803C>G |
p.A268G |
Chr.1:
242124598-242124598
on Build GRCh38
|
5922083 |
c.655T>A |
p.S219T |
Chr.1:
242124470-242124470
on Build GRCh38
|
6748611 |
c.699G>T |
p.K233N |
Chr.1:
242124516-242124516
on Build GRCh38
|
7151882 |
c.912delC |
p.K305fs*22 |
Chr.1:
242124489-242124489
on Build GRCh38
|
679644 |
c.513A>G |
p.L171L |
Chr.1:
242124612-242124612
on Build GRCh38
|
4899409 |
c.619C>T |
p.L207L |
Chr.1:
242124596-242124596
on Build GRCh38
|
3486223 |
c.529C>T |
p.L177L |
Chr.1:
242124596-242124596
on Build GRCh38
|
5664774 |
c.825C>A |
p.F275L |
Chr.1:
242124576-242124576
on Build GRCh38
|
1134853 |
c.631G>A |
p.E211K |
Chr.1:
242124494-242124494
on Build GRCh38
|
5705355 |
c.889T>A |
p.L297M |
Chr.1:
242124512-242124512
on Build GRCh38
|
5454119 |
c.556G>A |
p.E186K |
Chr.1:
242124659-242124659
on Build GRCh38
|
425775 |
c.657G>A |
p.S219S |
Chr.1:
242124468-242124468
on Build GRCh38
|
6042430 |
c.747+6T>C |
p.? |
Chr.1:
242124462-242124462
on Build GRCh38
|
1584329 |
c.859C>T |
p.L287F |
Chr.1:
242124542-242124542
on Build GRCh38
|
3418983 |
c.932C>T |
p.S311L |
Chr.1:
242124469-242124469
on Build GRCh38
|
4559155 |
c.608G>A |
p.R203K |
Chr.1:
242124607-242124607
on Build GRCh38
|
5454120 |
c.466G>A |
p.E156K |
Chr.1:
242124659-242124659
on Build GRCh38
|
6356401 |
c.472G>A |
p.G158S |
Chr.1:
242124653-242124653
on Build GRCh38
|
4858727 |
c.603A>G |
p.L201L |
Chr.1:
242124612-242124612
on Build GRCh38
|
6748619 |
c.849G>A |
p.W283* |
Chr.1:
242124552-242124552
on Build GRCh38
|
7151883 |
c.726delC |
p.K243fs*22 |
Chr.1:
242124489-242124489
on Build GRCh38
|
5664776 |
c.549C>A |
p.F183L |
Chr.1:
242124576-242124576
on Build GRCh38
|
6439884 |
c.607A>T |
p.K203* |
Chr.1:
242124518-242124518
on Build GRCh38
|
5664775 |
c.639C>A |
p.F213L |
Chr.1:
242124576-242124576
on Build GRCh38
|
6125598 |
c.646A>C |
p.R216R |
Chr.1:
242124569-242124569
on Build GRCh38
|
3486222 |
c.805C>T |
p.L269L |
Chr.1:
242124596-242124596
on Build GRCh38
|
314231 |
c.562_563CC>AA |
p.P188>? |
Chr.1:
242124562-242124563
on Build GRCh38
|
6439883 |
c.697A>T |
p.K233* |
Chr.1:
242124518-242124518
on Build GRCh38
|
6042429 |
c.933+6T>C |
p.? |
Chr.1:
242124462-242124462
on Build GRCh38
|
5705356 |
c.703T>A |
p.L235M |
Chr.1:
242124512-242124512
on Build GRCh38
|
302942 |
c.526G>A |
p.A176T |
Chr.1:
242124599-242124599
on Build GRCh38
|
4947226 |
c.662G>T |
p.W221L |
Chr.1:
242124553-242124553
on Build GRCh38
|
5448479 |
c.829A>C |
p.S277R |
Chr.1:
242124572-242124572
on Build GRCh38
|
6356400 |
c.562G>A |
p.G188S |
Chr.1:
242124653-242124653
on Build GRCh38
|
4872429 |
c.673C>T |
p.L225F |
Chr.1:
242124542-242124542
on Build GRCh38
|
6748621 |
c.573G>A |
p.W191* |
Chr.1:
242124552-242124552
on Build GRCh38
|
464241 |
c.527C>G |
p.A176G |
Chr.1:
242124598-242124598
on Build GRCh38
|
4782478 |
c.746C>T |
p.S249L |
Chr.1:
242124469-242124469
on Build GRCh38
|
6893035 |
c.803C>T |
p.A268V |
Chr.1:
242124598-242124598
on Build GRCh38
|
3741142 |
c.777G>T |
p.L259L |
Chr.1:
242124624-242124624
on Build GRCh38
|
5922082 |
c.745T>A |
p.S249T |
Chr.1:
242124470-242124470
on Build GRCh38
|
1134852 |
c.907G>A |
p.E303K |
Chr.1:
242124494-242124494
on Build GRCh38
|
6748620 |
c.663G>A |
p.W221* |
Chr.1:
242124552-242124552
on Build GRCh38
|
1690064 |
c.473G>A |
p.G158D |
Chr.1:
242124652-242124652
on Build GRCh38
|
906542 |
c.583C>T |
p.L195F |
Chr.1:
242124542-242124542
on Build GRCh38
|