3209818 |
c.1141A>C |
p.K381Q |
Chr.5:
144473968-144473968
on Build GRCh38
|
5633379 |
c.872G>T |
p.C291F |
Chr.5:
144473699-144473699
on Build GRCh38
|
1211682 |
c.888A>C |
p.K296N |
Chr.5:
144473715-144473715
on Build GRCh38
|
4920634 |
c.870C>G |
p.C290W |
Chr.5:
144473697-144473697
on Build GRCh38
|
6513434 |
c.885C>A |
p.G295G |
Chr.5:
144473712-144473712
on Build GRCh38
|
4694797 |
c.1072G>A |
p.E358K |
Chr.5:
144473899-144473899
on Build GRCh38
|
80042 |
c.1188G>A |
p.E396E |
Chr.5:
144474015-144474015
on Build GRCh38
|
6380465 |
c.982G>A |
p.V328I |
Chr.5:
144473809-144473809
on Build GRCh38
|
4561863 |
c.901G>A |
p.G301R |
Chr.5:
144473728-144473728
on Build GRCh38
|
3611893 |
c.1228C>T |
p.R410W |
Chr.5:
144474055-144474055
on Build GRCh38
|
6275179 |
c.849G>T |
p.W283C |
Chr.5:
144473676-144473676
on Build GRCh38
|
1063698 |
c.1188G>T |
p.E396D |
Chr.5:
144474015-144474015
on Build GRCh38
|
6054892 |
c.1059G>A |
p.L353L |
Chr.5:
144473886-144473886
on Build GRCh38
|
5435374 |
c.833-7T>G |
p.? |
Chr.5:
144473653-144473653
on Build GRCh38
|
3611889 |
c.1027G>A |
p.D343N |
Chr.5:
144473854-144473854
on Build GRCh38
|
3611891 |
c.1070C>T |
p.S357L |
Chr.5:
144473897-144473897
on Build GRCh38
|
5402577 |
c.1074G>A |
p.E358E |
Chr.5:
144473901-144473901
on Build GRCh38
|
5941975 |
c.1100G>A |
p.R367Q |
Chr.5:
144473927-144473927
on Build GRCh38
|
3611888 |
c.1026G>A |
p.L342L |
Chr.5:
144473853-144473853
on Build GRCh38
|
6997292 |
c.1149delA |
p.A384fs*20 |
Chr.5:
144473976-144473976
on Build GRCh38
|
5996376 |
c.1103C>T |
p.T368I |
Chr.5:
144473930-144473930
on Build GRCh38
|
1696462 |
c.1127C>T |
p.S376L |
Chr.5:
144473954-144473954
on Build GRCh38
|
51006 |
c.1011C>A |
p.T337T |
Chr.5:
144473838-144473838
on Build GRCh38
|
1672004 |
c.995C>T |
p.P332L |
Chr.5:
144473822-144473822
on Build GRCh38
|
3414526 |
c.1154T>C |
p.V385A |
Chr.5:
144473981-144473981
on Build GRCh38
|
5011520 |
c.1014C>A |
p.N338K |
Chr.5:
144473841-144473841
on Build GRCh38
|
6578950 |
c.972C>G |
p.P324P |
Chr.5:
144473799-144473799
on Build GRCh38
|
3919230 |
c.932C>T |
p.S311F |
Chr.5:
144473759-144473759
on Build GRCh38
|
5890106 |
c.971C>T |
p.P324L |
Chr.5:
144473798-144473798
on Build GRCh38
|
1434842 |
c.1141delA |
p.A384fs*20 |
Chr.5:
144473968-144473968
on Build GRCh38
|
5026429 |
c.1148A>C |
p.K383T |
Chr.5:
144473975-144473975
on Build GRCh38
|
6692043 |
c.945C>T |
p.C315C |
Chr.5:
144473772-144473772
on Build GRCh38
|
1634045 |
c.854C>A |
p.P285H |
Chr.5:
144473681-144473681
on Build GRCh38
|
336810 |
c.857C>A |
p.S286* |
Chr.5:
144473684-144473684
on Build GRCh38
|
3852359 |
c.910G>A |
p.G304S |
Chr.5:
144473737-144473737
on Build GRCh38
|
4975643 |
c.853C>T |
p.P285S |
Chr.5:
144473680-144473680
on Build GRCh38
|
1434840 |
c.1123G>A |
p.E375K |
Chr.5:
144473950-144473950
on Build GRCh38
|
5669171 |
c.902G>A |
p.G301E |
Chr.5:
144473729-144473729
on Build GRCh38
|
1211683 |
c.1081C>T |
p.R361W |
Chr.5:
144473908-144473908
on Build GRCh38
|
4808462 |
c.1099C>T |
p.R367W |
Chr.5:
144473926-144473926
on Build GRCh38
|
3209814 |
c.914C>T |
p.T305M |
Chr.5:
144473741-144473741
on Build GRCh38
|
6481171 |
c.970C>A |
p.P324T |
Chr.5:
144473797-144473797
on Build GRCh38
|
5709543 |
c.836A>G |
p.E279G |
Chr.5:
144473663-144473663
on Build GRCh38
|
3852358 |
c.864C>T |
p.C288C |
Chr.5:
144473691-144473691
on Build GRCh38
|
3209819 |
c.1142A>G |
p.K381R |
Chr.5:
144473969-144473969
on Build GRCh38
|
4900321 |
c.879G>A |
p.K293K |
Chr.5:
144473706-144473706
on Build GRCh38
|
3776391 |
c.1017C>G |
p.I339M |
Chr.5:
144473844-144473844
on Build GRCh38
|
5599756 |
c.1040A>G |
p.K347R |
Chr.5:
144473867-144473867
on Build GRCh38
|
6277418 |
c.1048C>A |
p.P350T |
Chr.5:
144473875-144473875
on Build GRCh38
|
1162362 |
c.1035C>A |
p.P345P |
Chr.5:
144473862-144473862
on Build GRCh38
|
736533 |
c.1090G>T |
p.D364Y |
Chr.5:
144473917-144473917
on Build GRCh38
|
3611894 |
c.1234C>T |
p.P412S |
Chr.5:
144474061-144474061
on Build GRCh38
|
1063697 |
c.1030C>T |
p.R344C |
Chr.5:
144473857-144473857
on Build GRCh38
|
5533151 |
c.1128G>A |
p.S376S |
Chr.5:
144473955-144473955
on Build GRCh38
|
6169720 |
c.1215C>G |
p.I405M |
Chr.5:
144474042-144474042
on Build GRCh38
|
4607892 |
c.1139G>T |
p.S380I |
Chr.5:
144473966-144473966
on Build GRCh38
|
6219732 |
c.1141_1142insA |
p.A384fs*3 |
Chr.5:
144473968-144473969
on Build GRCh38
|
3611890 |
c.1046G>A |
p.G349D |
Chr.5:
144473873-144473873
on Build GRCh38
|
6033606 |
c.891T>C |
p.G297G |
Chr.5:
144473718-144473718
on Build GRCh38
|
7260600 |
c.1004G>A |
p.R335H |
Chr.5:
144473831-144473831
on Build GRCh38
|
3611892 |
c.1206C>T |
p.F402F |
Chr.5:
144474033-144474033
on Build GRCh38
|
5525130 |
c.1207C>T |
p.L403L |
Chr.5:
144474034-144474034
on Build GRCh38
|
6102472 |
c.1003C>T |
p.R335C |
Chr.5:
144473830-144473830
on Build GRCh38
|
292188 |
c.1031G>A |
p.R344H |
Chr.5:
144473858-144473858
on Build GRCh38
|
4511032 |
c.855C>T |
p.P285P |
Chr.5:
144473682-144473682
on Build GRCh38
|
6850252 |
c.1151C>T |
p.A384V |
Chr.5:
144473978-144473978
on Build GRCh38
|
5402576 |
c.904G>A |
p.E302K |
Chr.5:
144473731-144473731
on Build GRCh38
|
4520742 |
c.1072G>C |
p.E358Q |
Chr.5:
144473899-144473899
on Build GRCh38
|
6901304 |
c.835G>A |
p.E279K |
Chr.5:
144473662-144473662
on Build GRCh38
|
3611887 |
c.865G>A |
p.D289N |
Chr.5:
144473692-144473692
on Build GRCh38
|
5418609 |
c.1078C>T |
p.R360W |
Chr.5:
144473905-144473905
on Build GRCh38
|
5356494 |
c.1071A>G |
p.S357S |
Chr.5:
144473898-144473898
on Build GRCh38
|
4981546 |
c.1159G>T |
p.E387* |
Chr.5:
144473986-144473986
on Build GRCh38
|
3409963 |
c.1157A>C |
p.K386T |
Chr.5:
144473984-144473984
on Build GRCh38
|
6546738 |
c.1002A>T |
p.T334T |
Chr.5:
144473829-144473829
on Build GRCh38
|
5026428 |
c.1121G>A |
p.R374K |
Chr.5:
144473948-144473948
on Build GRCh38
|
356174 |
c.931T>C |
p.S311P |
Chr.5:
144473758-144473758
on Build GRCh38
|
6513435 |
c.1062C>A |
p.I354I |
Chr.5:
144473889-144473889
on Build GRCh38
|
3919229 |
c.848G>A |
p.W283* |
Chr.5:
144473675-144473675
on Build GRCh38
|
5867712 |
c.1150G>A |
p.A384T |
Chr.5:
144473977-144473977
on Build GRCh38
|
1434841 |
c.1140_1141insA |
p.A384fs*3 |
Chr.5:
144473967-144473968
on Build GRCh38
|