4494839 |
c.440C>T |
p.A147V |
Chr.21:
34095638-34095638
on Build GRCh38
|
5558616 |
c.443T>C |
p.L148P |
Chr.21:
34095641-34095641
on Build GRCh38
|
5558508 |
c.387G>A |
p.L129L |
Chr.21:
34095585-34095585
on Build GRCh38
|
6783103 |
c.443delT |
p.F149fs*20 |
Chr.21:
34095641-34095641
on Build GRCh38
|
4501054 |
c.579C>T |
p.I193I |
Chr.21:
34095777-34095777
on Build GRCh38
|
6783100 |
c.444T>C |
p.L148L |
Chr.21:
34095642-34095642
on Build GRCh38
|
6783099 |
c.384C>A |
p.A128A |
Chr.21:
34095582-34095582
on Build GRCh38
|
444403 |
c.397C>G |
p.L133V |
Chr.21:
34095595-34095595
on Build GRCh38
|
4441741 |
c.325A>G |
p.M109V |
Chr.21:
34095523-34095523
on Build GRCh38
|
3389988 |
c.417C>T |
p.L139L |
Chr.21:
34095615-34095615
on Build GRCh38
|
1307757 |
c.514C>T |
p.L172L |
Chr.21:
34095712-34095712
on Build GRCh38
|
6783101 |
c.525C>T |
p.T175T |
Chr.21:
34095723-34095723
on Build GRCh38
|
5858571 |
c.335A>G |
p.Y112C |
Chr.21:
34095533-34095533
on Build GRCh38
|
1616042 |
c.486C>T |
p.V162V |
Chr.21:
34095684-34095684
on Build GRCh38
|
5825021 |
c.541G>C |
p.V181L |
Chr.21:
34095739-34095739
on Build GRCh38
|
5858572 |
c.362G>A |
p.R121K |
Chr.21:
34095560-34095560
on Build GRCh38
|
5627527 |
c.359A>G |
p.H120R |
Chr.21:
34095557-34095557
on Build GRCh38
|
6783107 |
c.368A>G |
p.Q123R |
Chr.21:
34095566-34095566
on Build GRCh38
|
3841850 |
c.409A>C |
p.T137P |
Chr.21:
34095607-34095607
on Build GRCh38
|
4804823 |
c.401A>C |
p.Y134S |
Chr.21:
34095599-34095599
on Build GRCh38
|
3912051 |
c.434C>T |
p.S145L |
Chr.21:
34095632-34095632
on Build GRCh38
|
5013648 |
c.442C>T |
p.L148F |
Chr.21:
34095640-34095640
on Build GRCh38
|
6018054 |
c.436G>A |
p.G146S |
Chr.21:
34095634-34095634
on Build GRCh38
|
7138420 |
c.576G>A |
p.M192I |
Chr.21:
34095774-34095774
on Build GRCh38
|
3708037 |
c.342C>T |
p.S114S |
Chr.21:
34095540-34095540
on Build GRCh38
|
6021988 |
c.367C>G |
p.Q123E |
Chr.21:
34095565-34095565
on Build GRCh38
|
2844219 |
c.435G>A |
p.S145S |
Chr.21:
34095633-34095633
on Build GRCh38
|
7329412 |
c.324_325delCA |
p.M109fs*2 |
Chr.21:
34095522-34095523
on Build GRCh38
|
1030427 |
c.508G>A |
p.A170T |
Chr.21:
34095706-34095706
on Build GRCh38
|
725231 |
c.389C>G |
p.S130C |
Chr.21:
34095587-34095587
on Build GRCh38
|
1030426 |
c.500G>A |
p.G167D |
Chr.21:
34095698-34095698
on Build GRCh38
|
267453 |
c.559C>A |
p.L187M |
Chr.21:
34095757-34095757
on Build GRCh38
|
5016665 |
c.347delG |
p.R116fs*16 |
Chr.21:
34095545-34095545
on Build GRCh38
|
5089007 |
c.484G>A |
p.V162I |
Chr.21:
34095682-34095682
on Build GRCh38
|
7279326 |
c.564G>T |
p.Q188H |
Chr.21:
34095762-34095762
on Build GRCh38
|