5008248 |
c.705C>T |
p.N235N |
Chr.2:
201272754-201272754
on Build GRCh38
|
6984815 |
c.634G>T |
p.E212* |
Chr.2:
201272764-201272764
on Build GRCh38
|
5978491 |
c.635G>T |
p.G212V |
Chr.2:
201272684-201272684
on Build GRCh38
|
4572161 |
c.665T>A |
p.V222D |
Chr.2:
201272714-201272714
on Build GRCh38
|
5978493 |
c.554G>T |
p.G185V |
Chr.2:
201272684-201272684
on Build GRCh38
|
6985077 |
c.569A>G |
p.D190G |
Chr.2:
201272699-201272699
on Build GRCh38
|
3718869 |
c.577_578delAA |
p.R194fs*17 |
Chr.2:
201272707-201272708
on Build GRCh38
|
6984813 |
c.715G>T |
p.E239* |
Chr.2:
201272764-201272764
on Build GRCh38
|
3355723 |
c.588_589delTG |
p.A197fs*14 |
Chr.2:
201272718-201272719
on Build GRCh38
|
6956638 |
c.597C>G |
p.I199M |
Chr.2:
201272727-201272727
on Build GRCh38
|
6620635 |
c.551T>C |
p.L184P |
Chr.2:
201272681-201272681
on Build GRCh38
|
6983800 |
c.603G>C |
p.K201N |
Chr.2:
201272733-201272733
on Build GRCh38
|
6985075 |
c.650A>G |
p.D217G |
Chr.2:
201272699-201272699
on Build GRCh38
|
6956636 |
c.678C>G |
p.I226M |
Chr.2:
201272727-201272727
on Build GRCh38
|
4885348 |
c.540G>C |
p.K180N |
Chr.2:
201272670-201272670
on Build GRCh38
|
1014861 |
c.727+1G>A |
p.? |
Chr.2:
201272777-201272777
on Build GRCh38
|
4887841 |
c.702C>G |
p.I234M |
Chr.2:
201272751-201272751
on Build GRCh38
|
4887447 |
c.629A>G |
p.Y210C |
Chr.2:
201272759-201272759
on Build GRCh38
|
6949517 |
c.550_560del11 |
p.L184fs*24 |
Chr.2:
201272680-201272690
on Build GRCh38
|
6949515 |
c.631_641del11 |
p.L211fs*24 |
Chr.2:
201272680-201272690
on Build GRCh38
|
7343877 |
c.624C>G |
p.N208K |
Chr.2:
201272754-201272754
on Build GRCh38
|
6927902 |
c.640G>T |
p.G214* |
Chr.2:
201272689-201272689
on Build GRCh38
|
2907078 |
c.607_608delAT |
p.I203fs*35 |
Chr.2:
201272656-201272657
on Build GRCh38
|
4885346 |
c.621G>C |
p.K207N |
Chr.2:
201272670-201272670
on Build GRCh38
|
1014857 |
c.589-1G>T |
p.? |
Chr.2:
201272637-201272637
on Build GRCh38
|
2907087 |
c.699_702delAATC |
p.I234fs*30 |
Chr.2:
201272748-201272751
on Build GRCh38
|
4764380 |
c.553G>T |
p.G185* |
Chr.2:
201272683-201272683
on Build GRCh38
|
4854778 |
c.727G>C |
p.E243Q |
Chr.2:
201272776-201272776
on Build GRCh38
|
6156599 |
c.608T>G |
p.L203R |
Chr.2:
201272738-201272738
on Build GRCh38
|
6972734 |
c.574C>A |
p.L192M |
Chr.2:
201272704-201272704
on Build GRCh38
|
2907086 |
c.534G>A |
p.M178I |
Chr.2:
201272664-201272664
on Build GRCh38
|
4854780 |
c.646G>C |
p.G216R |
Chr.2:
201272776-201272776
on Build GRCh38
|
4090185 |
c.573C>A |
p.I191I |
Chr.2:
201272703-201272703
on Build GRCh38
|
7265982 |
c.668G>A |
p.C223Y |
Chr.2:
201272717-201272717
on Build GRCh38
|
4764378 |
c.634G>T |
p.G212* |
Chr.2:
201272683-201272683
on Build GRCh38
|
3576298 |
c.606C>A |
p.S202R |
Chr.2:
201272736-201272736
on Build GRCh38
|
6156597 |
c.689T>G |
p.L230R |
Chr.2:
201272738-201272738
on Build GRCh38
|
3718867 |
c.658_659delAA |
p.R221fs*17 |
Chr.2:
201272707-201272708
on Build GRCh38
|
6910436 |
c.517G>T |
p.D173Y |
Chr.2:
201272647-201272647
on Build GRCh38
|
2907080 |
c.526_527delAT |
p.I176fs*35 |
Chr.2:
201272656-201272657
on Build GRCh38
|
397705 |
c.727+2T>G |
p.? |
Chr.2:
201272778-201272778
on Build GRCh38
|
1014858 |
c.508-1G>T |
p.? |
Chr.2:
201272637-201272637
on Build GRCh38
|
7331967 |
c.530A>G |
p.E177G |
Chr.2:
201272660-201272660
on Build GRCh38
|
1014862 |
c.646+1G>A |
p.? |
Chr.2:
201272777-201272777
on Build GRCh38
|
6916662 |
c.589-1G>A |
p.? |
Chr.2:
201272637-201272637
on Build GRCh38
|
6972732 |
c.655C>A |
p.L219M |
Chr.2:
201272704-201272704
on Build GRCh38
|
5982739 |
c.620A>C |
p.K207T |
Chr.2:
201272669-201272669
on Build GRCh38
|
3724393 |
c.508-2A>G |
p.? |
Chr.2:
201272636-201272636
on Build GRCh38
|
6910434 |
c.598G>T |
p.D200Y |
Chr.2:
201272647-201272647
on Build GRCh38
|
4572163 |
c.584T>A |
p.V195D |
Chr.2:
201272714-201272714
on Build GRCh38
|
5982741 |
c.539A>C |
p.K180T |
Chr.2:
201272669-201272669
on Build GRCh38
|
3576296 |
c.687C>A |
p.S229R |
Chr.2:
201272736-201272736
on Build GRCh38
|
6620633 |
c.632T>C |
p.L211P |
Chr.2:
201272681-201272681
on Build GRCh38
|
5008250 |
c.624C>T |
p.N208N |
Chr.2:
201272754-201272754
on Build GRCh38
|
7412623 |
c.527_528delTA |
p.I176fs*35 |
Chr.2:
201272657-201272658
on Build GRCh38
|
3838272 |
c.628A>G |
p.I210V |
Chr.2:
201272677-201272677
on Build GRCh38
|
3718872 |
c.580_581delAG |
p.R194fs*17 |
Chr.2:
201272710-201272711
on Build GRCh38
|
6927904 |
c.559G>T |
p.G187* |
Chr.2:
201272689-201272689
on Build GRCh38
|
3355724 |
c.587G>A |
p.C196Y |
Chr.2:
201272717-201272717
on Build GRCh38
|
1014859 |
c.687C>T |
p.S229S |
Chr.2:
201272736-201272736
on Build GRCh38
|
3724391 |
c.589-2A>G |
p.? |
Chr.2:
201272636-201272636
on Build GRCh38
|
4887445 |
c.710A>G |
p.Y237C |
Chr.2:
201272759-201272759
on Build GRCh38
|
6983798 |
c.684G>C |
p.K228N |
Chr.2:
201272733-201272733
on Build GRCh38
|
442105 |
c.595A>C |
p.I199L |
Chr.2:
201272725-201272725
on Build GRCh38
|
4887843 |
c.621C>G |
p.I207M |
Chr.2:
201272751-201272751
on Build GRCh38
|
3718866 |
c.528_529delAG |
p.E177fs*34 |
Chr.2:
201272658-201272659
on Build GRCh38
|
7345521 |
c.616_617delAT |
p.I206fs*5 |
Chr.2:
201272746-201272747
on Build GRCh38
|
6916664 |
c.508-1G>A |
p.? |
Chr.2:
201272637-201272637
on Build GRCh38
|
442104 |
c.676A>C |
p.I226L |
Chr.2:
201272725-201272725
on Build GRCh38
|
2907084 |
c.615G>A |
p.M205I |
Chr.2:
201272664-201272664
on Build GRCh38
|
7331966 |
c.611A>G |
p.E204G |
Chr.2:
201272660-201272660
on Build GRCh38
|
2907083 |
c.527T>C |
p.I176T |
Chr.2:
201272657-201272657
on Build GRCh38
|
2907089 |
c.618_621delAATC |
p.I207fs*15 |
Chr.2:
201272748-201272751
on Build GRCh38
|
5449591 |
c.575T>C |
p.L192P |
Chr.2:
201272705-201272705
on Build GRCh38
|
3838274 |
c.547A>G |
p.I183V |
Chr.2:
201272677-201272677
on Build GRCh38
|
6090078 |
c.537G>C |
p.E179D |
Chr.2:
201272667-201272667
on Build GRCh38
|
3718864 |
c.609_610delAG |
p.E204fs*34 |
Chr.2:
201272658-201272659
on Build GRCh38
|
397706 |
c.646+2T>G |
p.? |
Chr.2:
201272778-201272778
on Build GRCh38
|
4090183 |
c.654C>A |
p.I218I |
Chr.2:
201272703-201272703
on Build GRCh38
|
3718870 |
c.661_662delAG |
p.R221fs*17 |
Chr.2:
201272710-201272711
on Build GRCh38
|
6054396 |
c.606C>G |
p.F202L |
Chr.2:
201272655-201272655
on Build GRCh38
|
5449589 |
c.656T>C |
p.L219P |
Chr.2:
201272705-201272705
on Build GRCh38
|
1014860 |
c.606C>T |
p.S202S |
Chr.2:
201272736-201272736
on Build GRCh38
|
6054398 |
c.525C>G |
p.F175L |
Chr.2:
201272655-201272655
on Build GRCh38
|
6090076 |
c.618G>C |
p.E206D |
Chr.2:
201272667-201272667
on Build GRCh38
|
3355739 |
c.581G>T |
p.R194I |
Chr.2:
201272711-201272711
on Build GRCh38
|