3489572 |
c.709G>A |
p.E237K |
Chr.1:
40462999-40462999
on Build GRCh38
|
5817707 |
c.640T>A |
p.F214I |
Chr.1:
40462930-40462930
on Build GRCh38
|
4744538 |
c.609T>G |
p.S203R |
Chr.1:
40462800-40462800
on Build GRCh38
|
3489565 |
c.604C>T |
p.Q202* |
Chr.1:
40462588-40462588
on Build GRCh38
|
3489564 |
c.280G>A |
p.E94K |
Chr.1:
40462570-40462570
on Build GRCh38
|
248614 |
c.315G>A |
p.G105G |
Chr.1:
40462605-40462605
on Build GRCh38
|
4589644 |
c.853_854insA |
p.I287fs*10 |
Chr.1:
40462837-40462838
on Build GRCh38
|
5047909 |
c.532G>C |
p.E178Q |
Chr.1:
40462822-40462822
on Build GRCh38
|
6826803 |
c.591C>T |
p.S197S |
Chr.1:
40462575-40462575
on Build GRCh38
|
7119911 |
c.748C>G |
p.Q250E |
Chr.1:
40463038-40463038
on Build GRCh38
|
4397315 |
c.862C>T |
p.H288Y |
Chr.1:
40463053-40463053
on Build GRCh38
|
6533665 |
c.583A>G |
p.I195V |
Chr.1:
40462774-40462774
on Build GRCh38
|
4744537 |
c.510T>G |
p.S170R |
Chr.1:
40462800-40462800
on Build GRCh38
|
4143944 |
c.736G>T |
p.A246S |
Chr.1:
40462927-40462927
on Build GRCh38
|
1584504 |
c.608G>T |
p.R203I |
Chr.1:
40462592-40462592
on Build GRCh38
|
6290462 |
c.786T>A |
p.G262G |
Chr.1:
40462977-40462977
on Build GRCh38
|
4143939 |
c.733C>A |
p.L245I |
Chr.1:
40462717-40462717
on Build GRCh38
|
1342629 |
c.666G>A |
p.P222P |
Chr.1:
40462956-40462956
on Build GRCh38
|
6290460 |
c.993T>A |
p.G331G |
Chr.1:
40462977-40462977
on Build GRCh38
|
6826804 |
c.285C>T |
p.S95S |
Chr.1:
40462575-40462575
on Build GRCh38
|
5902529 |
c.808G>A |
p.E270K |
Chr.1:
40462999-40462999
on Build GRCh38
|
4143943 |
c.637G>T |
p.A213S |
Chr.1:
40462927-40462927
on Build GRCh38
|
6126758 |
c.690A>G |
p.K230K |
Chr.1:
40462674-40462674
on Build GRCh38
|
6533664 |
c.484A>G |
p.I162V |
Chr.1:
40462774-40462774
on Build GRCh38
|
5634990 |
c.473G>T |
p.R158I |
Chr.1:
40462664-40462664
on Build GRCh38
|
4007947 |
c.753T>A |
p.H251Q |
Chr.1:
40463043-40463043
on Build GRCh38
|
6290461 |
c.687T>A |
p.G229G |
Chr.1:
40462977-40462977
on Build GRCh38
|
5353741 |
c.725A>G |
p.E242G |
Chr.1:
40462916-40462916
on Build GRCh38
|
7119910 |
c.847C>G |
p.Q283E |
Chr.1:
40463038-40463038
on Build GRCh38
|
5881743 |
c.308G>T |
p.G103V |
Chr.1:
40462598-40462598
on Build GRCh38
|
7119903 |
c.655C>G |
p.Q219E |
Chr.1:
40462639-40462639
on Build GRCh38
|
909448 |
c.392A>C |
p.N131T |
Chr.1:
40462682-40462682
on Build GRCh38
|
5173627 |
c.765G>A |
p.P255P |
Chr.1:
40462956-40462956
on Build GRCh38
|
5730937 |
c.648A>G |
p.Q216Q |
Chr.1:
40462938-40462938
on Build GRCh38
|
909446 |
c.302G>T |
p.R101I |
Chr.1:
40462592-40462592
on Build GRCh38
|
5047910 |
c.631G>C |
p.E211Q |
Chr.1:
40462822-40462822
on Build GRCh38
|
3489563 |
c.586G>A |
p.E196K |
Chr.1:
40462570-40462570
on Build GRCh38
|
5047908 |
c.838G>C |
p.E280Q |
Chr.1:
40462822-40462822
on Build GRCh38
|
3489570 |
c.639C>T |
p.A213A |
Chr.1:
40462929-40462929
on Build GRCh38
|
5380955 |
c.396G>A |
p.V132V |
Chr.1:
40462686-40462686
on Build GRCh38
|
4744535 |
c.479A>G |
p.E160G |
Chr.1:
40462670-40462670
on Build GRCh38
|
6826805 |
c.384C>T |
p.S128S |
Chr.1:
40462575-40462575
on Build GRCh38
|
4753502 |
c.920T>C |
p.F307S |
Chr.1:
40462904-40462904
on Build GRCh38
|
7195175 |
c.382A>C |
p.K128Q |
Chr.1:
40462672-40462672
on Build GRCh38
|
4572780 |
c.862T>C |
p.F288L |
Chr.1:
40462846-40462846
on Build GRCh38
|
4744534 |
c.380A>G |
p.E127G |
Chr.1:
40462670-40462670
on Build GRCh38
|
7119908 |
c.726C>T |
p.F242F |
Chr.1:
40463016-40463016
on Build GRCh38
|
1584503 |
c.692G>T |
p.R231I |
Chr.1:
40462676-40462676
on Build GRCh38
|
4403814 |
c.929A>C |
p.K310T |
Chr.1:
40462913-40462913
on Build GRCh38
|
4143941 |
c.526C>A |
p.L176I |
Chr.1:
40462717-40462717
on Build GRCh38
|
5881744 |
c.407G>T |
p.G136V |
Chr.1:
40462598-40462598
on Build GRCh38
|
4143940 |
c.427C>A |
p.L143I |
Chr.1:
40462717-40462717
on Build GRCh38
|
1296426 |
c.740G>C |
p.R247T |
Chr.1:
40462724-40462724
on Build GRCh38
|
5730936 |
c.954A>G |
p.Q318Q |
Chr.1:
40462938-40462938
on Build GRCh38
|
5353257 |
c.545G>A |
p.R182H |
Chr.1:
40462736-40462736
on Build GRCh38
|
7195174 |
c.481A>C |
p.K161Q |
Chr.1:
40462672-40462672
on Build GRCh38
|
909447 |
c.386G>T |
p.R129I |
Chr.1:
40462676-40462676
on Build GRCh38
|
5082027 |
c.867C>T |
p.T289T |
Chr.1:
40463058-40463058
on Build GRCh38
|
7119907 |
c.825C>T |
p.F275F |
Chr.1:
40463016-40463016
on Build GRCh38
|
3489569 |
c.945C>T |
p.A315A |
Chr.1:
40462929-40462929
on Build GRCh38
|
3489568 |
c.324C>T |
p.P108P |
Chr.1:
40462614-40462614
on Build GRCh38
|
5634989 |
c.374G>T |
p.R125I |
Chr.1:
40462664-40462664
on Build GRCh38
|
4589646 |
c.646_647insA |
p.I218fs*10 |
Chr.1:
40462837-40462838
on Build GRCh38
|
4744536 |
c.816T>G |
p.S272R |
Chr.1:
40462800-40462800
on Build GRCh38
|
286968 |
c.590G>T |
p.R197I |
Chr.1:
40462880-40462880
on Build GRCh38
|
5353740 |
c.626A>G |
p.E209G |
Chr.1:
40462916-40462916
on Build GRCh38
|
6573753 |
c.921C>G |
p.F307L |
Chr.1:
40462905-40462905
on Build GRCh38
|
7119905 |
c.349C>G |
p.Q117E |
Chr.1:
40462639-40462639
on Build GRCh38
|
4397313 |
c.1069C>T |
p.H357Y |
Chr.1:
40463053-40463053
on Build GRCh38
|
4589645 |
c.547_548insA |
p.I185fs*10 |
Chr.1:
40462837-40462838
on Build GRCh38
|
1584502 |
c.698A>C |
p.N233T |
Chr.1:
40462682-40462682
on Build GRCh38
|
6126760 |
c.483A>G |
p.K161K |
Chr.1:
40462674-40462674
on Build GRCh38
|
1296427 |
c.434G>C |
p.R145T |
Chr.1:
40462724-40462724
on Build GRCh38
|
4403815 |
c.623A>C |
p.K208T |
Chr.1:
40462913-40462913
on Build GRCh38
|
5817708 |
c.739T>A |
p.F247I |
Chr.1:
40462930-40462930
on Build GRCh38
|
1342628 |
c.972G>A |
p.P324P |
Chr.1:
40462956-40462956
on Build GRCh38
|
5881742 |
c.614G>T |
p.G205V |
Chr.1:
40462598-40462598
on Build GRCh38
|
1234397 |
c.980G>T |
p.R327I |
Chr.1:
40462964-40462964
on Build GRCh38
|
3689689 |
c.1074C>T |
p.T358T |
Chr.1:
40463058-40463058
on Build GRCh38
|
5634988 |
c.680G>T |
p.R227I |
Chr.1:
40462664-40462664
on Build GRCh38
|
7119909 |
c.1054C>G |
p.Q352E |
Chr.1:
40463038-40463038
on Build GRCh38
|
6126759 |
c.384A>G |
p.K128K |
Chr.1:
40462674-40462674
on Build GRCh38
|
7119904 |
c.448C>G |
p.Q150E |
Chr.1:
40462639-40462639
on Build GRCh38
|
3489571 |
c.1015G>A |
p.E339K |
Chr.1:
40462999-40462999
on Build GRCh38
|
5380954 |
c.702G>A |
p.V234V |
Chr.1:
40462686-40462686
on Build GRCh38
|
3689690 |
c.768C>T |
p.T256T |
Chr.1:
40463058-40463058
on Build GRCh38
|
7085721 |
c.533G>C |
p.R178T |
Chr.1:
40462724-40462724
on Build GRCh38
|
3489567 |
c.630C>T |
p.P210P |
Chr.1:
40462614-40462614
on Build GRCh38
|
5353255 |
c.752G>A |
p.R251H |
Chr.1:
40462736-40462736
on Build GRCh38
|
4753504 |
c.713T>C |
p.F238S |
Chr.1:
40462904-40462904
on Build GRCh38
|
3489566 |
c.298C>T |
p.Q100* |
Chr.1:
40462588-40462588
on Build GRCh38
|
5353256 |
c.446G>A |
p.R149H |
Chr.1:
40462736-40462736
on Build GRCh38
|
4572782 |
c.655T>C |
p.F219L |
Chr.1:
40462846-40462846
on Build GRCh38
|
6573755 |
c.714C>G |
p.F238L |
Chr.1:
40462905-40462905
on Build GRCh38
|
4744533 |
c.686A>G |
p.E229G |
Chr.1:
40462670-40462670
on Build GRCh38
|
6533663 |
c.790A>G |
p.I264V |
Chr.1:
40462774-40462774
on Build GRCh38
|
4753503 |
c.614T>C |
p.F205S |
Chr.1:
40462904-40462904
on Build GRCh38
|
4403816 |
c.722A>C |
p.K241T |
Chr.1:
40462913-40462913
on Build GRCh38
|
4572781 |
c.556T>C |
p.F186L |
Chr.1:
40462846-40462846
on Build GRCh38
|
4143942 |
c.943G>T |
p.A315S |
Chr.1:
40462927-40462927
on Build GRCh38
|
4397314 |
c.763C>T |
p.H255Y |
Chr.1:
40463053-40463053
on Build GRCh38
|
5730938 |
c.747A>G |
p.Q249Q |
Chr.1:
40462938-40462938
on Build GRCh38
|
1160926 |
c.460C>A |
p.P154T |
Chr.1:
40462750-40462750
on Build GRCh38
|
4007946 |
c.1059T>A |
p.H353Q |
Chr.1:
40463043-40463043
on Build GRCh38
|
5817706 |
c.946T>A |
p.F316I |
Chr.1:
40462930-40462930
on Build GRCh38
|
6573754 |
c.615C>G |
p.F205L |
Chr.1:
40462905-40462905
on Build GRCh38
|
1160925 |
c.766C>A |
p.P256T |
Chr.1:
40462750-40462750
on Build GRCh38
|
5380956 |
c.495G>A |
p.V165V |
Chr.1:
40462686-40462686
on Build GRCh38
|
7195173 |
c.688A>C |
p.K230Q |
Chr.1:
40462672-40462672
on Build GRCh38
|
909449 |
c.674G>T |
p.R225I |
Chr.1:
40462964-40462964
on Build GRCh38
|
5353739 |
c.932A>G |
p.E311G |
Chr.1:
40462916-40462916
on Build GRCh38
|
7119906 |
c.1032C>T |
p.F344F |
Chr.1:
40463016-40463016
on Build GRCh38
|