350259 |
c.745G>T |
p.E249* |
Chr.21:
37714412-37714412
on Build GRCh38
|
4694439 |
c.577_578insA |
p.I193fs*36 |
Chr.21:
37714579-37714580
on Build GRCh38
|
5858614 |
c.788G>A |
p.G263E |
Chr.21:
37714369-37714369
on Build GRCh38
|
6691201 |
c.803A>G |
p.D268G |
Chr.21:
37714354-37714354
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
|
6094658 |
c.594G>T |
p.K198N |
Chr.21:
37714563-37714563
on Build GRCh38
|
1291180 |
c.802G>A |
p.D268N |
Chr.21:
37714355-37714355
on Build GRCh38
|
3550625 |
c.760C>T |
p.P254S |
Chr.21:
37714397-37714397
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
|
6467939 |
c.771G>C |
p.Q257H |
Chr.21:
37714386-37714386
on Build GRCh38
|
5690577 |
c.643G>A |
p.D215N |
Chr.21:
37714514-37714514
on Build GRCh38
|
1030622 |
c.774G>A |
p.T258T |
Chr.21:
37714383-37714383
on Build GRCh38
|
355161 |
c.640C>A |
p.R214R |
Chr.21:
37714517-37714517
on Build GRCh38
|
4596241 |
c.751G>A |
p.E251K |
Chr.21:
37714406-37714406
on Build GRCh38
|
290809 |
c.762G>A |
p.P254P |
Chr.21:
37714395-37714395
on Build GRCh38
|
5741990 |
c.703G>A |
p.A235T |
Chr.21:
37714454-37714454
on Build GRCh38
|
6496062 |
c.775G>T |
p.D259Y |
Chr.21:
37714382-37714382
on Build GRCh38
|
725172 |
c.700G>A |
p.E234K |
Chr.21:
37714457-37714457
on Build GRCh38
|
2845035 |
c.761C>T |
p.P254L |
Chr.21:
37714396-37714396
on Build GRCh38
|
3912086 |
c.799G>A |
p.G267R |
Chr.21:
37714358-37714358
on Build GRCh38
|
1211538 |
c.773C>T |
p.T258M |
Chr.21:
37714384-37714384
on Build GRCh38
|
6691202 |
c.641G>A |
p.R214Q |
Chr.21:
37714516-37714516
on Build GRCh38
|
4694438 |
c.747G>A |
p.E249E |
Chr.21:
37714410-37714410
on Build GRCh38
|
1211534 |
c.809G>A |
p.R270H |
Chr.21:
37714348-37714348
on Build GRCh38
|
7427249 |
c.798G>A |
p.T266T |
Chr.21:
37714359-37714359
on Build GRCh38
|
4852182 |
c.603G>A |
p.E201E |
Chr.21:
37714554-37714554
on Build GRCh38
|
4101546 |
c.743C>T |
p.S248L |
Chr.21:
37714414-37714414
on Build GRCh38
|
6161329 |
c.797C>A |
p.T266K |
Chr.21:
37714360-37714360
on Build GRCh38
|
7129264 |
c.621C>T |
p.T207T |
Chr.21:
37714536-37714536
on Build GRCh38
|
1414048 |
c.784G>A |
p.V262I |
Chr.21:
37714373-37714373
on Build GRCh38
|
4801832 |
c.722T>C |
p.L241S |
Chr.21:
37714435-37714435
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
|
6908053 |
c.790T>C |
p.Y264H |
Chr.21:
37714367-37714367
on Build GRCh38
|
4825743 |
c.765G>T |
p.L255F |
Chr.21:
37714392-37714392
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
|
7210330 |
c.715G>A |
p.A239T |
Chr.21:
37714442-37714442
on Build GRCh38
|
6467940 |
c.770A>C |
p.Q257P |
Chr.21:
37714387-37714387
on Build GRCh38
|
725171 |
c.669G>C |
p.R223R |
Chr.21:
37714488-37714488
on Build GRCh38
|
261510 |
c.612C>A |
p.V204V |
Chr.21:
37714545-37714545
on Build GRCh38
|
1030623 |
c.747G>T |
p.E249D |
Chr.21:
37714410-37714410
on Build GRCh38
|
3841898 |
c.619A>C |
p.T207P |
Chr.21:
37714538-37714538
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
|
6483866 |
c.792T>C |
p.Y264Y |
Chr.21:
37714365-37714365
on Build GRCh38
|
7274820 |
c.806A>G |
p.D269G |
Chr.21:
37714351-37714351
on Build GRCh38
|
2845034 |
c.773C>A |
p.T258K |
Chr.21:
37714384-37714384
on Build GRCh38
|
6526269 |
c.802G>T |
p.D268Y |
Chr.21:
37714355-37714355
on Build GRCh38
|