3912087 |
c.484G>A |
p.D162N |
Chr.21:
37714673-37714673
on Build GRCh38
|
1255353 |
c.309C>A |
p.T103T |
Chr.21:
37714848-37714848
on Build GRCh38
|
6004755 |
c.147C>A |
p.T49T |
Chr.21:
37715010-37715010
on Build GRCh38
|
317501 |
c.491G>T |
p.C164F |
Chr.21:
37714666-37714666
on Build GRCh38
|
6691199 |
c.168C>T |
p.Y56Y |
Chr.21:
37714989-37714989
on Build GRCh38
|
5858616 |
c.379C>T |
p.P127S |
Chr.21:
37714778-37714778
on Build GRCh38
|
4101547 |
c.526G>A |
p.V176M |
Chr.21:
37714631-37714631
on Build GRCh38
|
3550629 |
c.670G>A |
p.V224I |
Chr.21:
37714487-37714487
on Build GRCh38
|
7100138 |
c.601G>C |
p.E201Q |
Chr.21:
37714556-37714556
on Build GRCh38
|
1414049 |
c.321delT |
p.F107fs*3 |
Chr.21:
37714836-37714836
on Build GRCh38
|
6161328 |
c.536C>A |
p.S179Y |
Chr.21:
37714621-37714621
on Build GRCh38
|
4418471 |
c.495A>G |
p.P165P |
Chr.21:
37714662-37714662
on Build GRCh38
|
7197432 |
c.187T>C |
p.C63R |
Chr.21:
37714970-37714970
on Build GRCh38
|
3550637 |
c.207C>T |
p.N69N |
Chr.21:
37714950-37714950
on Build GRCh38
|
5564229 |
c.353G>A |
p.R118Q |
Chr.21:
37714804-37714804
on Build GRCh38
|
4101551 |
c.273C>T |
p.F91F |
Chr.21:
37714884-37714884
on Build GRCh38
|
3550633 |
c.364G>A |
p.D122N |
Chr.21:
37714793-37714793
on Build GRCh38
|
7140048 |
c.196C>A |
p.H66N |
Chr.21:
37714961-37714961
on Build GRCh38
|
4571689 |
c.514T>C |
p.L172L |
Chr.21:
37714643-37714643
on Build GRCh38
|
355161 |
c.640C>A |
p.R214R |
Chr.21:
37714517-37714517
on Build GRCh38
|
5741990 |
c.703G>A |
p.A235T |
Chr.21:
37714454-37714454
on Build GRCh38
|
1030624 |
c.277C>A |
p.L93I |
Chr.21:
37714880-37714880
on Build GRCh38
|
725172 |
c.700G>A |
p.E234K |
Chr.21:
37714457-37714457
on Build GRCh38
|
3550641 |
c.137G>A |
p.R46Q |
Chr.21:
37715020-37715020
on Build GRCh38
|
6526270 |
c.383C>T |
p.S128F |
Chr.21:
37714774-37714774
on Build GRCh38
|
5662840 |
c.180C>A |
p.D60E |
Chr.21:
37714977-37714977
on Build GRCh38
|
6691204 |
c.473G>A |
p.R158Q |
Chr.21:
37714684-37714684
on Build GRCh38
|
1211536 |
c.352C>T |
p.R118W |
Chr.21:
37714805-37714805
on Build GRCh38
|
3912088 |
c.164G>A |
p.R55K |
Chr.21:
37714993-37714993
on Build GRCh38
|
6691200 |
c.351A>G |
p.I117M |
Chr.21:
37714806-37714806
on Build GRCh38
|
3423953 |
c.223C>T |
p.R75C |
Chr.21:
37714934-37714934
on Build GRCh38
|
108042 |
c.235G>A |
p.D79N |
Chr.21:
37714922-37714922
on Build GRCh38
|
3550630 |
c.496G>A |
p.E166K |
Chr.21:
37714661-37714661
on Build GRCh38
|
139211 |
c.536C>T |
p.S179F |
Chr.21:
37714621-37714621
on Build GRCh38
|
4101548 |
c.442G>C |
p.E148Q |
Chr.21:
37714715-37714715
on Build GRCh38
|
3550626 |
c.713G>A |
p.R238K |
Chr.21:
37714444-37714444
on Build GRCh38
|
6867528 |
c.658C>T |
p.L220L |
Chr.21:
37714499-37714499
on Build GRCh38
|
6094657 |
c.223C>A |
p.R75S |
Chr.21:
37714934-37714934
on Build GRCh38
|
7210330 |
c.715G>A |
p.A239T |
Chr.21:
37714442-37714442
on Build GRCh38
|
3550638 |
c.199C>T |
p.H67Y |
Chr.21:
37714958-37714958
on Build GRCh38
|
1751632 |
c.183A>G |
p.G61G |
Chr.21:
37714974-37714974
on Build GRCh38
|
3550634 |
c.355G>A |
p.G119R |
Chr.21:
37714802-37714802
on Build GRCh38
|
1566066 |
c.472C>T |
p.R158W |
Chr.21:
37714685-37714685
on Build GRCh38
|
6354761 |
c.522A>G |
p.Q174Q |
Chr.21:
37714635-37714635
on Build GRCh38
|
5366194 |
c.342C>T |
p.I114I |
Chr.21:
37714815-37714815
on Build GRCh38
|
419236 |
c.339G>C |
p.L113F |
Chr.21:
37714818-37714818
on Build GRCh38
|
362162 |
c.181G>A |
p.G61R |
Chr.21:
37714976-37714976
on Build GRCh38
|
2845041 |
c.511C>T |
p.L171F |
Chr.21:
37714646-37714646
on Build GRCh38
|
6691195 |
c.411C>T |
p.N137N |
Chr.21:
37714746-37714746
on Build GRCh38
|
5834031 |
c.574_575insCC |
p.K192fs*20 |
Chr.21:
37714582-37714583
on Build GRCh38
|
4572310 |
c.706T>A |
p.S236T |
Chr.21:
37714451-37714451
on Build GRCh38
|
5679050 |
c.315C>A |
p.L105L |
Chr.21:
37714842-37714842
on Build GRCh38
|
4694439 |
c.577_578insA |
p.I193fs*36 |
Chr.21:
37714579-37714580
on Build GRCh38
|
3963966 |
c.151A>T |
p.R51W |
Chr.21:
37715006-37715006
on Build GRCh38
|
6691205 |
c.521A>G |
p.Q174R |
Chr.21:
37714636-37714636
on Build GRCh38
|
115693 |
c.476T>G |
p.V159G |
Chr.21:
37714681-37714681
on Build GRCh38
|
3423954 |
c.208G>A |
p.V70M |
Chr.21:
37714949-37714949
on Build GRCh38
|
4847431 |
c.210G>C |
p.V70V |
Chr.21:
37714947-37714947
on Build GRCh38
|
4101549 |
c.418G>A |
p.V140I |
Chr.21:
37714739-37714739
on Build GRCh38
|
7105508 |
c.208G>C |
p.V70L |
Chr.21:
37714949-37714949
on Build GRCh38
|
3550631 |
c.417C>T |
p.F139F |
Chr.21:
37714740-37714740
on Build GRCh38
|
6094658 |
c.594G>T |
p.K198N |
Chr.21:
37714563-37714563
on Build GRCh38
|
3550627 |
c.689C>T |
p.S230F |
Chr.21:
37714468-37714468
on Build GRCh38
|
240302 |
c.610G>T |
p.V204F |
Chr.21:
37714547-37714547
on Build GRCh38
|
6467941 |
c.143G>A |
p.R48Q |
Chr.21:
37715014-37715014
on Build GRCh38
|
5504713 |
c.265T>A |
p.W89R |
Chr.21:
37714892-37714892
on Build GRCh38
|
444447 |
c.438A>G |
p.S146S |
Chr.21:
37714719-37714719
on Build GRCh38
|
3550639 |
c.184A>C |
p.K62Q |
Chr.21:
37714973-37714973
on Build GRCh38
|
3550635 |
c.336G>A |
p.W112* |
Chr.21:
37714821-37714821
on Build GRCh38
|
7152394 |
c.358G>T |
p.D120Y |
Chr.21:
37714799-37714799
on Build GRCh38
|
6691196 |
c.494C>T |
p.P165L |
Chr.21:
37714663-37714663
on Build GRCh38
|
2845045 |
c.343G>A |
p.A115T |
Chr.21:
37714814-37714814
on Build GRCh38
|
5690577 |
c.643G>A |
p.D215N |
Chr.21:
37714514-37714514
on Build GRCh38
|
3681273 |
c.495A>T |
p.P165P |
Chr.21:
37714662-37714662
on Build GRCh38
|
4694440 |
c.307A>G |
p.T103A |
Chr.21:
37714850-37714850
on Build GRCh38
|
6691202 |
c.641G>A |
p.R214Q |
Chr.21:
37714516-37714516
on Build GRCh38
|
347609 |
c.189C>T |
p.C63C |
Chr.21:
37714968-37714968
on Build GRCh38
|
5858615 |
c.404A>G |
p.N135S |
Chr.21:
37714753-37714753
on Build GRCh38
|
4852182 |
c.603G>A |
p.E201E |
Chr.21:
37714554-37714554
on Build GRCh38
|
3550632 |
c.392C>T |
p.P131L |
Chr.21:
37714765-37714765
on Build GRCh38
|
7129264 |
c.621C>T |
p.T207T |
Chr.21:
37714536-37714536
on Build GRCh38
|
4801832 |
c.722T>C |
p.L241S |
Chr.21:
37714435-37714435
on Build GRCh38
|
3550628 |
c.684G>A |
p.R228R |
Chr.21:
37714473-37714473
on Build GRCh38
|
1318804 |
c.668G>A |
p.R223Q |
Chr.21:
37714489-37714489
on Build GRCh38
|
6161327 |
c.496G>C |
p.E166Q |
Chr.21:
37714661-37714661
on Build GRCh38
|
5533064 |
c.142C>T |
p.R48W |
Chr.21:
37715015-37715015
on Build GRCh38
|
725171 |
c.669G>C |
p.R223R |
Chr.21:
37714488-37714488
on Build GRCh38
|
3550640 |
c.153G>A |
p.R51R |
Chr.21:
37715004-37715004
on Build GRCh38
|
261510 |
c.612C>A |
p.V204V |
Chr.21:
37714545-37714545
on Build GRCh38
|
4101550 |
c.344C>T |
p.A115V |
Chr.21:
37714813-37714813
on Build GRCh38
|
3550636 |
c.266G>A |
p.W89* |
Chr.21:
37714891-37714891
on Build GRCh38
|
1632480 |
c.524C>T |
p.S175F |
Chr.21:
37714633-37714633
on Build GRCh38
|
5723176 |
c.391C>T |
p.P131S |
Chr.21:
37714766-37714766
on Build GRCh38
|
4570874 |
c.337T>C |
p.L113L |
Chr.21:
37714820-37714820
on Build GRCh38
|
3841898 |
c.619A>C |
p.T207P |
Chr.21:
37714538-37714538
on Build GRCh38
|
2845046 |
c.295G>A |
p.V99I |
Chr.21:
37714862-37714862
on Build GRCh38
|
5607459 |
c.152G>A |
p.R51K |
Chr.21:
37715005-37715005
on Build GRCh38
|
444448 |
c.282G>T |
p.L94F |
Chr.21:
37714875-37714875
on Build GRCh38
|