1024544 |
c.114T>C |
p.L38L |
Chr.20:
1296353-1296353
on Build GRCh38
|
1024543 |
c.70C>T |
p.R24C |
Chr.20:
1296309-1296309
on Build GRCh38
|
4289602 |
c.66A>C |
p.P22P |
Chr.20:
1296305-1296305
on Build GRCh38
|
1024542 |
c.66A>G |
p.P22P |
Chr.20:
1296305-1296305
on Build GRCh38
|
6786142 |
c.1544G>A |
p.G515D |
Chr.20:
1296375-1296375
on Build GRCh38
|
722664 |
c.6C>T |
p.A2A |
Chr.20:
1296377-1296377
on Build GRCh38
|
5161485 |
c.109C>A |
p.P37T |
Chr.20:
1296348-1296348
on Build GRCh38
|
1024545 |
c.1522T>C |
p.Y508H |
Chr.20:
1296353-1296353
on Build GRCh38
|
4461295 |
c.11C>T |
p.S4F |
Chr.20:
1296382-1296382
on Build GRCh38
|
3910861 |
c.1494-5C>T |
p.? |
Chr.20:
1296320-1296320
on Build GRCh38
|
722666 |
c.1546C>T |
p.H516Y |
Chr.20:
1296377-1296377
on Build GRCh38
|
5936634 |
c.151G>A |
p.G51R |
Chr.20:
1296390-1296390
on Build GRCh38
|
6558499 |
c.37G>T |
p.A13S |
Chr.20:
1296408-1296408
on Build GRCh38
|
4096655 |
c.161G>C |
p.R54P |
Chr.20:
1296400-1296400
on Build GRCh38
|
149123 |
c.1506C>T |
p.T502T |
Chr.20:
1296337-1296337
on Build GRCh38
|
149122 |
c.98C>T |
p.P33L |
Chr.20:
1296337-1296337
on Build GRCh38
|
5833918 |
c.41_42insC |
p.A16fs*38 |
Chr.20:
1296280-1296281
on Build GRCh38
|
4447198 |
c.1526C>T |
p.S509L |
Chr.20:
1296357-1296357
on Build GRCh38
|
5640446 |
c.29G>A |
p.R10Q |
Chr.20:
1296400-1296400
on Build GRCh38
|
6786141 |
c.136G>A |
p.A46T |
Chr.20:
1296375-1296375
on Build GRCh38
|
4461297 |
c.1551C>T |
p.V517V |
Chr.20:
1296382-1296382
on Build GRCh38
|
5936635 |
c.1559G>A |
p.R520K |
Chr.20:
1296390-1296390
on Build GRCh38
|
3910860 |
c.81C>T |
p.S27S |
Chr.20:
1296320-1296320
on Build GRCh38
|
4728689 |
c.179G>A |
p.R60H |
Chr.20:
1296418-1296418
on Build GRCh38
|
4728688 |
c.47G>A |
p.R16H |
Chr.20:
1296418-1296418
on Build GRCh38
|
6786140 |
c.4G>A |
p.A2T |
Chr.20:
1296375-1296375
on Build GRCh38
|
5640447 |
c.161G>A |
p.R54Q |
Chr.20:
1296400-1296400
on Build GRCh38
|
6558500 |
c.169G>T |
p.A57S |
Chr.20:
1296408-1296408
on Build GRCh38
|
5936633 |
c.19G>A |
p.G7R |
Chr.20:
1296390-1296390
on Build GRCh38
|
297476 |
c.8T>A |
p.M3K |
Chr.20:
1296379-1296379
on Build GRCh38
|
1130697 |
c.60C>A |
p.G20G |
Chr.20:
1296299-1296299
on Build GRCh38
|
1024546 |
c.28C>T |
p.R10W |
Chr.20:
1296399-1296399
on Build GRCh38
|
4096654 |
c.29G>C |
p.R10P |
Chr.20:
1296400-1296400
on Build GRCh38
|
5453346 |
c.56C>T |
p.A19V |
Chr.20:
1296295-1296295
on Build GRCh38
|
5161486 |
c.1517C>A |
p.T506N |
Chr.20:
1296348-1296348
on Build GRCh38
|
722665 |
c.138C>T |
p.A46A |
Chr.20:
1296377-1296377
on Build GRCh38
|
297477 |
c.140T>A |
p.M47K |
Chr.20:
1296379-1296379
on Build GRCh38
|
4461296 |
c.143C>T |
p.S48F |
Chr.20:
1296382-1296382
on Build GRCh38
|
297478 |
c.1548T>A |
p.H516Q |
Chr.20:
1296379-1296379
on Build GRCh38
|
4447197 |
c.118C>T |
p.R40W |
Chr.20:
1296357-1296357
on Build GRCh38
|
1024547 |
c.160C>T |
p.R54W |
Chr.20:
1296399-1296399
on Build GRCh38
|