6363263 |
c.1039G>T |
p.V347L |
Chr.1:
29018357-29018357
on Build GRCh38
|
1251241 |
c.372C>T |
p.I124I |
Chr.1:
29018317-29018317
on Build GRCh38
|
6390562 |
c.958T>C |
p.C320R |
Chr.1:
29018276-29018276
on Build GRCh38
|
7428414 |
c.444G>A |
p.P148P |
Chr.1:
29018389-29018389
on Build GRCh38
|
7428413 |
c.1071G>A |
p.P357P |
Chr.1:
29018389-29018389
on Build GRCh38
|
426042 |
c.443C>G |
p.P148R |
Chr.1:
29018388-29018388
on Build GRCh38
|
7308790 |
c.279-4G>C |
p.? |
Chr.1:
29018220-29018220
on Build GRCh38
|
426041 |
c.1070C>G |
p.P357R |
Chr.1:
29018388-29018388
on Build GRCh38
|
6654560 |
c.919C>T |
p.L307F |
Chr.1:
29018237-29018237
on Build GRCh38
|
6364391 |
c.925C>A |
p.L309I |
Chr.1:
29018243-29018243
on Build GRCh38
|
2152926 |
c.394G>A |
p.D132N |
Chr.1:
29018339-29018339
on Build GRCh38
|
7308789 |
c.906-4G>C |
p.? |
Chr.1:
29018220-29018220
on Build GRCh38
|
6654558 |
c.928C>T |
p.R310W |
Chr.1:
29018246-29018246
on Build GRCh38
|
6363262 |
c.1039G>T |
p.V347L |
Chr.1:
29018357-29018357
on Build GRCh38
|
5214502 |
c.1056delT |
p.F353fs*25 |
Chr.1:
29018374-29018374
on Build GRCh38
|
6654585 |
c.1054G>T |
p.D352Y |
Chr.1:
29018372-29018372
on Build GRCh38
|
5214503 |
c.429delT |
p.F144fs*25 |
Chr.1:
29018374-29018374
on Build GRCh38
|
908012 |
c.1027G>T |
p.E343* |
Chr.1:
29018345-29018345
on Build GRCh38
|
6390564 |
c.331T>C |
p.C111R |
Chr.1:
29018276-29018276
on Build GRCh38
|
4977760 |
c.1002G>T |
p.Q334H |
Chr.1:
29018320-29018320
on Build GRCh38
|
7221653 |
c.1002G>T |
p.Q334H |
Chr.1:
29018320-29018320
on Build GRCh38
|
7428412 |
c.1071G>A |
p.P357P |
Chr.1:
29018389-29018389
on Build GRCh38
|
1251240 |
c.999C>T |
p.I333I |
Chr.1:
29018317-29018317
on Build GRCh38
|
6364393 |
c.298C>A |
p.L100I |
Chr.1:
29018243-29018243
on Build GRCh38
|
4977761 |
c.375G>T |
p.Q125H |
Chr.1:
29018320-29018320
on Build GRCh38
|
2152925 |
c.1021G>A |
p.D341N |
Chr.1:
29018339-29018339
on Build GRCh38
|
6654557 |
c.928C>T |
p.R310W |
Chr.1:
29018246-29018246
on Build GRCh38
|
6363264 |
c.412G>T |
p.V138L |
Chr.1:
29018357-29018357
on Build GRCh38
|
7308788 |
c.906-4G>C |
p.? |
Chr.1:
29018220-29018220
on Build GRCh38
|
5993152 |
c.1038C>T |
p.G346G |
Chr.1:
29018356-29018356
on Build GRCh38
|
4681158 |
c.919C>T |
p.L307F |
Chr.1:
29018237-29018237
on Build GRCh38
|
4681159 |
c.292C>T |
p.L98F |
Chr.1:
29018237-29018237
on Build GRCh38
|
6654587 |
c.427G>T |
p.D143Y |
Chr.1:
29018372-29018372
on Build GRCh38
|
5993153 |
c.411C>T |
p.G137G |
Chr.1:
29018356-29018356
on Build GRCh38
|
6390563 |
c.958T>C |
p.C320R |
Chr.1:
29018276-29018276
on Build GRCh38
|
6654586 |
c.1054G>T |
p.D352Y |
Chr.1:
29018372-29018372
on Build GRCh38
|
908013 |
c.400G>T |
p.E134* |
Chr.1:
29018345-29018345
on Build GRCh38
|
6364392 |
c.925C>A |
p.L309I |
Chr.1:
29018243-29018243
on Build GRCh38
|
6654559 |
c.301C>T |
p.R101W |
Chr.1:
29018246-29018246
on Build GRCh38
|