4940747 |
c.668G>A |
p.R223H |
Chr.1:
158355875-158355875
on Build GRCh38
|
4223576 |
c.760C>T |
p.R254* |
Chr.1:
158355967-158355967
on Build GRCh38
|
6476881 |
c.676C>T |
p.L226L |
Chr.1:
158355877-158355877
on Build GRCh38
|
5486850 |
c.774C>T |
p.D258D |
Chr.1:
158355975-158355975
on Build GRCh38
|
3476022 |
c.784G>A |
p.D262N |
Chr.1:
158355991-158355991
on Build GRCh38
|
386139 |
c.800G>T |
p.W267L |
Chr.1:
158356001-158356001
on Build GRCh38
|
3476018 |
c.628G>A |
p.E210K |
Chr.1:
158355835-158355835
on Build GRCh38
|
6058980 |
c.671T>A |
p.L224Q |
Chr.1:
158355878-158355878
on Build GRCh38
|
5812121 |
c.789T>A |
p.A263A |
Chr.1:
158355990-158355990
on Build GRCh38
|
5228147 |
c.656C>G |
p.P219R |
Chr.1:
158355863-158355863
on Build GRCh38
|
6058973 |
c.752A>T |
p.Q251L |
Chr.1:
158355953-158355953
on Build GRCh38
|
6218093 |
c.757C>A |
p.Q253K |
Chr.1:
158355964-158355964
on Build GRCh38
|
5554500 |
c.654C>T |
p.G218G |
Chr.1:
158355855-158355855
on Build GRCh38
|
6122120 |
c.659G>T |
p.G220V |
Chr.1:
158355866-158355866
on Build GRCh38
|
4576423 |
c.718G>T |
p.V240L |
Chr.1:
158355919-158355919
on Build GRCh38
|
5179879 |
c.723G>A |
p.M241I |
Chr.1:
158355930-158355930
on Build GRCh38
|
3476021 |
c.790G>A |
p.D264N |
Chr.1:
158355991-158355991
on Build GRCh38
|
3476017 |
c.634G>A |
p.E212K |
Chr.1:
158355835-158355835
on Build GRCh38
|
6122116 |
c.760C>A |
p.R254R |
Chr.1:
158355967-158355967
on Build GRCh38
|
107852 |
c.747G>T |
p.Q249H |
Chr.1:
158355948-158355948
on Build GRCh38
|
5010633 |
c.769G>A |
p.V257I |
Chr.1:
158355976-158355976
on Build GRCh38
|
5719376 |
c.765G>A |
p.G255G |
Chr.1:
158355972-158355972
on Build GRCh38
|
676189 |
c.736C>A |
p.R246R |
Chr.1:
158355937-158355937
on Build GRCh38
|
5504900 |
c.789G>A |
p.E263E |
Chr.1:
158355996-158355996
on Build GRCh38
|
424220 |
c.662C>G |
p.P221R |
Chr.1:
158355863-158355863
on Build GRCh38
|
319334 |
c.770G>T |
p.G257V |
Chr.1:
158355971-158355971
on Build GRCh38
|
1200253 |
c.653G>A |
p.G218D |
Chr.1:
158355854-158355854
on Build GRCh38
|
309957 |
c.673C>A |
p.R225S |
Chr.1:
158355874-158355874
on Build GRCh38
|
4508606 |
c.775C>T |
p.P259S |
Chr.1:
158355982-158355982
on Build GRCh38
|
404829 |
c.670delG |
p.G224fs*19 |
Chr.1:
158355871-158355871
on Build GRCh38
|
287181 |
c.793G>A |
p.E265K |
Chr.1:
158355994-158355994
on Build GRCh38
|
6623531 |
c.783T>C |
p.P261P |
Chr.1:
158355984-158355984
on Build GRCh38
|
5812122 |
c.783T>A |
p.A261A |
Chr.1:
158355990-158355990
on Build GRCh38
|
6058979 |
c.677T>A |
p.L226Q |
Chr.1:
158355878-158355878
on Build GRCh38
|
6058976 |
c.704C>A |
p.P235Q |
Chr.1:
158355911-158355911
on Build GRCh38
|
6122121 |
c.626-2A>G |
p.? |
Chr.1:
158355825-158355825
on Build GRCh38
|
4763126 |
c.730C>T |
p.R244W |
Chr.1:
158355937-158355937
on Build GRCh38
|
6623534 |
c.712G>A |
p.V238M |
Chr.1:
158355919-158355919
on Build GRCh38
|
5554501 |
c.648C>T |
p.G216G |
Chr.1:
158355855-158355855
on Build GRCh38
|
6122117 |
c.726G>A |
p.V242V |
Chr.1:
158355927-158355927
on Build GRCh38
|
1247670 |
c.704_705TC>CA |
p.F235S |
Chr.1:
158355905-158355906
on Build GRCh38
|
4979420 |
c.706T>C |
p.Y236H |
Chr.1:
158355907-158355907
on Build GRCh38
|
4382272 |
c.754C>T |
p.R252W |
Chr.1:
158355955-158355955
on Build GRCh38
|
5719375 |
c.771G>A |
p.G257G |
Chr.1:
158355972-158355972
on Build GRCh38
|
1335161 |
c.674G>A |
p.R225H |
Chr.1:
158355875-158355875
on Build GRCh38
|
4979421 |
c.700T>C |
p.Y234H |
Chr.1:
158355907-158355907
on Build GRCh38
|
5659370 |
c.706A>T |
p.K236* |
Chr.1:
158355913-158355913
on Build GRCh38
|
4937428 |
c.702C>T |
p.Y234Y |
Chr.1:
158355909-158355909
on Build GRCh38
|
1986053 |
c.766C>T |
p.R256* |
Chr.1:
158355967-158355967
on Build GRCh38
|
4916039 |
c.763G>A |
p.G255R |
Chr.1:
158355970-158355970
on Build GRCh38
|
4508605 |
c.781C>T |
p.P261S |
Chr.1:
158355982-158355982
on Build GRCh38
|
6218092 |
c.763C>A |
p.Q255K |
Chr.1:
158355964-158355964
on Build GRCh38
|
3476020 |
c.695G>A |
p.G232E |
Chr.1:
158355902-158355902
on Build GRCh38
|
5790261 |
c.659G>A |
p.G220D |
Chr.1:
158355866-158355866
on Build GRCh38
|
1166384 |
c.792C>T |
p.D264D |
Chr.1:
158355993-158355993
on Build GRCh38
|
6058975 |
c.710C>A |
p.P237Q |
Chr.1:
158355911-158355911
on Build GRCh38
|
6122122 |
c.620-2A>G |
p.? |
Chr.1:
158355825-158355825
on Build GRCh38
|
4382273 |
c.748C>T |
p.R250W |
Chr.1:
158355955-158355955
on Build GRCh38
|
3476019 |
c.701G>A |
p.G234E |
Chr.1:
158355902-158355902
on Build GRCh38
|
6122118 |
c.720G>A |
p.V240V |
Chr.1:
158355927-158355927
on Build GRCh38
|
5504899 |
c.795G>A |
p.E265E |
Chr.1:
158355996-158355996
on Build GRCh38
|
5486851 |
c.768C>T |
p.D256D |
Chr.1:
158355975-158355975
on Build GRCh38
|
676190 |
c.729G>A |
p.M243I |
Chr.1:
158355930-158355930
on Build GRCh38
|
4559134 |
c.787G>A |
p.E263K |
Chr.1:
158355994-158355994
on Build GRCh38
|
4844574 |
c.763C>T |
p.Q255* |
Chr.1:
158355964-158355964
on Build GRCh38
|
6476882 |
c.670C>T |
p.L224L |
Chr.1:
158355877-158355877
on Build GRCh38
|
319333 |
c.769G>T |
p.G257W |
Chr.1:
158355970-158355970
on Build GRCh38
|
1626534 |
c.732G>C |
p.W244C |
Chr.1:
158355933-158355933
on Build GRCh38
|
6058977 |
c.693T>C |
p.H231H |
Chr.1:
158355894-158355894
on Build GRCh38
|
6354580 |
c.786C>T |
p.D262D |
Chr.1:
158355993-158355993
on Build GRCh38
|
309956 |
c.712A>T |
p.K238* |
Chr.1:
158355913-158355913
on Build GRCh38
|
6623533 |
c.718G>A |
p.V240M |
Chr.1:
158355919-158355919
on Build GRCh38
|
6122119 |
c.665G>T |
p.G222V |
Chr.1:
158355866-158355866
on Build GRCh38
|
4844575 |
c.757C>T |
p.Q253* |
Chr.1:
158355964-158355964
on Build GRCh38
|
6058978 |
c.687T>C |
p.H229H |
Chr.1:
158355894-158355894
on Build GRCh38
|
5010632 |
c.775G>A |
p.V259I |
Chr.1:
158355976-158355976
on Build GRCh38
|
6122115 |
c.766C>A |
p.R256R |
Chr.1:
158355967-158355967
on Build GRCh38
|
6623532 |
c.777T>C |
p.P259P |
Chr.1:
158355984-158355984
on Build GRCh38
|
5790260 |
c.665G>A |
p.G222D |
Chr.1:
158355866-158355866
on Build GRCh38
|
1247673 |
c.736C>T |
p.R246W |
Chr.1:
158355937-158355937
on Build GRCh38
|
6058974 |
c.746A>T |
p.Q249L |
Chr.1:
158355953-158355953
on Build GRCh38
|
4937427 |
c.708C>T |
p.Y236Y |
Chr.1:
158355909-158355909
on Build GRCh38
|
4916038 |
c.769G>A |
p.G257R |
Chr.1:
158355970-158355970
on Build GRCh38
|
4576424 |
c.712G>T |
p.V238L |
Chr.1:
158355919-158355919
on Build GRCh38
|