5817707 |
c.640T>A |
p.F214I |
Chr.1:
40462930-40462930
on Build GRCh38
|
3489569 |
c.945C>T |
p.A315A |
Chr.1:
40462929-40462929
on Build GRCh38
|
4744538 |
c.609T>G |
p.S203R |
Chr.1:
40462800-40462800
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
|
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
|
6533665 |
c.583A>G |
p.I195V |
Chr.1:
40462774-40462774
on Build GRCh38
|
6573753 |
c.921C>G |
p.F307L |
Chr.1:
40462905-40462905
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
|
6290462 |
c.786T>A |
p.G262G |
Chr.1:
40462977-40462977
on Build GRCh38
|
4589645 |
c.547_548insA |
p.I185fs*10 |
Chr.1:
40462837-40462838
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
|
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
|
4143943 |
c.637G>T |
p.A213S |
Chr.1:
40462927-40462927
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
|
6533664 |
c.484A>G |
p.I162V |
Chr.1:
40462774-40462774
on Build GRCh38
|
1234397 |
c.980G>T |
p.R327I |
Chr.1:
40462964-40462964
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
|
5173627 |
c.765G>A |
p.P255P |
Chr.1:
40462956-40462956
on Build GRCh38
|
7085721 |
c.533G>C |
p.R178T |
Chr.1:
40462724-40462724
on Build GRCh38
|
5730937 |
c.648A>G |
p.Q216Q |
Chr.1:
40462938-40462938
on Build GRCh38
|
5353255 |
c.752G>A |
p.R251H |
Chr.1:
40462736-40462736
on Build GRCh38
|
5047910 |
c.631G>C |
p.E211Q |
Chr.1:
40462822-40462822
on Build GRCh38
|
5047908 |
c.838G>C |
p.E280Q |
Chr.1:
40462822-40462822
on Build GRCh38
|
4753504 |
c.713T>C |
p.F238S |
Chr.1:
40462904-40462904
on Build GRCh38
|
3489570 |
c.639C>T |
p.A213A |
Chr.1:
40462929-40462929
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
|
4753502 |
c.920T>C |
p.F307S |
Chr.1:
40462904-40462904
on Build GRCh38
|
6573755 |
c.714C>G |
p.F238L |
Chr.1:
40462905-40462905
on Build GRCh38
|
4753503 |
c.614T>C |
p.F205S |
Chr.1:
40462904-40462904
on Build GRCh38
|
6533663 |
c.790A>G |
p.I264V |
Chr.1:
40462774-40462774
on Build GRCh38
|
4572780 |
c.862T>C |
p.F288L |
Chr.1:
40462846-40462846
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
|
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
|
4143942 |
c.943G>T |
p.A315S |
Chr.1:
40462927-40462927
on Build GRCh38
|
4143940 |
c.427C>A |
p.L143I |
Chr.1:
40462717-40462717
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
|
1296426 |
c.740G>C |
p.R247T |
Chr.1:
40462724-40462724
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
|
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
|
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
|