6848526 |
c.2499_2500insT |
p.T834fs*3 |
Chr.1:
51361215-51361216
on Build GRCh38
|
4808183 |
c.1569C>T |
p.F523F |
Chr.1:
51361177-51361177
on Build GRCh38
|
146508 |
c.2534A>G |
p.N845S |
Chr.1:
51361181-51361181
on Build GRCh38
|
6848527 |
c.1530_1531insT |
p.T511fs*3 |
Chr.1:
51361215-51361216
on Build GRCh38
|
5728633 |
c.1400C>T |
p.S467F |
Chr.1:
51361346-51361346
on Build GRCh38
|
5444428 |
c.1553G>C |
p.S518T |
Chr.1:
51361193-51361193
on Build GRCh38
|
5478814 |
c.1486G>T |
p.D496Y |
Chr.1:
51361260-51361260
on Build GRCh38
|
7081035 |
c.2473G>C |
p.D825H |
Chr.1:
51361242-51361242
on Build GRCh38
|
5478813 |
c.2455G>T |
p.D819Y |
Chr.1:
51361260-51361260
on Build GRCh38
|
3377217 |
c.2538C>T |
p.F846F |
Chr.1:
51361177-51361177
on Build GRCh38
|
5444427 |
c.2522G>C |
p.S841T |
Chr.1:
51361193-51361193
on Build GRCh38
|
7079581 |
c.2513C>T |
p.A838V |
Chr.1:
51361202-51361202
on Build GRCh38
|
5153818 |
c.1396delA |
p.R466fs*14 |
Chr.1:
51361350-51361350
on Build GRCh38
|
1126995 |
c.2544+2T>C |
p.? |
Chr.1:
51361169-51361169
on Build GRCh38
|
3735975 |
c.2466A>G |
p.I822M |
Chr.1:
51361249-51361249
on Build GRCh38
|
4879209 |
c.1575+2T>C |
p.? |
Chr.1:
51361169-51361169
on Build GRCh38
|
5941500 |
c.1391-3C>T |
p.? |
Chr.1:
51361358-51361358
on Build GRCh38
|
4755174 |
c.2530G>T |
p.A844S |
Chr.1:
51361185-51361185
on Build GRCh38
|
5735455 |
c.2431G>T |
p.G811C |
Chr.1:
51361284-51361284
on Build GRCh38
|
2192411 |
c.2522G>A |
p.S841N |
Chr.1:
51361193-51361193
on Build GRCh38
|
4239223 |
c.1553G>A |
p.S518N |
Chr.1:
51361193-51361193
on Build GRCh38
|
7079582 |
c.1544C>T |
p.A515V |
Chr.1:
51361202-51361202
on Build GRCh38
|
5735456 |
c.1462G>T |
p.G488C |
Chr.1:
51361284-51361284
on Build GRCh38
|
4867266 |
c.1418C>A |
p.S473Y |
Chr.1:
51361328-51361328
on Build GRCh38
|
1748494 |
c.2364A>T |
p.K788N |
Chr.1:
51361351-51361351
on Build GRCh38
|
7081036 |
c.1504G>C |
p.D502H |
Chr.1:
51361242-51361242
on Build GRCh38
|
5728632 |
c.2369C>T |
p.S790F |
Chr.1:
51361346-51361346
on Build GRCh38
|
4909299 |
c.1497A>G |
p.I499M |
Chr.1:
51361249-51361249
on Build GRCh38
|
5978010 |
c.2422C>A |
p.P808T |
Chr.1:
51361293-51361293
on Build GRCh38
|
4008725 |
c.2472T>C |
p.C824C |
Chr.1:
51361243-51361243
on Build GRCh38
|
5941499 |
c.2360-3C>T |
p.? |
Chr.1:
51361358-51361358
on Build GRCh38
|
1343283 |
c.2394T>A |
p.D798E |
Chr.1:
51361321-51361321
on Build GRCh38
|
4908934 |
c.1395A>T |
p.K465N |
Chr.1:
51361351-51361351
on Build GRCh38
|
4783145 |
c.1425T>A |
p.D475E |
Chr.1:
51361321-51361321
on Build GRCh38
|
1343284 |
c.2365delA |
p.R789fs*14 |
Chr.1:
51361350-51361350
on Build GRCh38
|
910533 |
c.2387C>A |
p.S796Y |
Chr.1:
51361328-51361328
on Build GRCh38
|
4755175 |
c.1561G>T |
p.A521S |
Chr.1:
51361185-51361185
on Build GRCh38
|
4907334 |
c.1503T>C |
p.C501C |
Chr.1:
51361243-51361243
on Build GRCh38
|
7216073 |
c.1565A>G |
p.N522S |
Chr.1:
51361181-51361181
on Build GRCh38
|
5978011 |
c.1453C>A |
p.P485T |
Chr.1:
51361293-51361293
on Build GRCh38
|