5846828 |
c.910C>T |
p.P304S |
Chr.1:
45006080-45006080
on Build GRCh38
|
6997662 |
c.896G>A |
p.R299Q |
Chr.1:
45006094-45006094
on Build GRCh38
|
4473322 |
c.1842C>T |
p.F614F |
Chr.1:
45006000-45006000
on Build GRCh38
|
4689909 |
c.633C>T |
p.I211I |
Chr.1:
45006039-45006039
on Build GRCh38
|
6678735 |
c.634G>A |
p.G212R |
Chr.1:
45006038-45006038
on Build GRCh38
|
4656869 |
c.599C>T |
p.P200L |
Chr.1:
45006073-45006073
on Build GRCh38
|
6678734 |
c.952G>A |
p.G318R |
Chr.1:
45006038-45006038
on Build GRCh38
|
1343024 |
c.1780G>A |
p.D594N |
Chr.1:
45006062-45006062
on Build GRCh38
|
4516362 |
c.666_667GG>AA |
p.E223K |
Chr.1:
45006005-45006006
on Build GRCh38
|
4473324 |
c.672C>T |
p.F224F |
Chr.1:
45006000-45006000
on Build GRCh38
|
1209485 |
c.1801A>G |
p.I601V |
Chr.1:
45006041-45006041
on Build GRCh38
|
1343025 |
c.928G>A |
p.D310N |
Chr.1:
45006062-45006062
on Build GRCh38
|
6997663 |
c.1748G>A |
p.R583Q |
Chr.1:
45006094-45006094
on Build GRCh38
|
1209486 |
c.949A>G |
p.I317V |
Chr.1:
45006041-45006041
on Build GRCh38
|
6009266 |
c.594C>T |
p.P198P |
Chr.1:
45006078-45006078
on Build GRCh38
|
910122 |
c.884C>T |
p.T295I |
Chr.1:
45006106-45006106
on Build GRCh38
|
910123 |
c.566C>T |
p.T189I |
Chr.1:
45006106-45006106
on Build GRCh38
|
6009264 |
c.1764C>T |
p.P588P |
Chr.1:
45006078-45006078
on Build GRCh38
|
5846829 |
c.592C>T |
p.P198S |
Chr.1:
45006080-45006080
on Build GRCh38
|
910119 |
c.924C>T |
p.C308C |
Chr.1:
45006066-45006066
on Build GRCh38
|
910120 |
c.606C>T |
p.C202C |
Chr.1:
45006066-45006066
on Build GRCh38
|
1343026 |
c.610G>A |
p.D204N |
Chr.1:
45006062-45006062
on Build GRCh38
|
910117 |
c.659G>A |
p.R220Q |
Chr.1:
45006013-45006013
on Build GRCh38
|
910116 |
c.977G>A |
p.R326Q |
Chr.1:
45006013-45006013
on Build GRCh38
|
4689908 |
c.951C>T |
p.I317I |
Chr.1:
45006039-45006039
on Build GRCh38
|
4656868 |
c.917C>T |
p.P306L |
Chr.1:
45006073-45006073
on Build GRCh38
|
4689907 |
c.1803C>T |
p.I601I |
Chr.1:
45006039-45006039
on Build GRCh38
|
6678733 |
c.1804G>A |
p.G602R |
Chr.1:
45006038-45006038
on Build GRCh38
|
4656867 |
c.1769C>T |
p.P590L |
Chr.1:
45006073-45006073
on Build GRCh38
|
5846827 |
c.1762C>T |
p.P588S |
Chr.1:
45006080-45006080
on Build GRCh38
|
1209487 |
c.631A>G |
p.I211V |
Chr.1:
45006041-45006041
on Build GRCh38
|
6009265 |
c.912C>T |
p.P304P |
Chr.1:
45006078-45006078
on Build GRCh38
|
4516361 |
c.984_985GG>AA |
p.E329K |
Chr.1:
45006005-45006006
on Build GRCh38
|
910118 |
c.1776C>T |
p.C592C |
Chr.1:
45006066-45006066
on Build GRCh38
|
910115 |
c.1829G>A |
p.R610Q |
Chr.1:
45006013-45006013
on Build GRCh38
|
6997664 |
c.578G>A |
p.R193Q |
Chr.1:
45006094-45006094
on Build GRCh38
|
4473323 |
c.990C>T |
p.F330F |
Chr.1:
45006000-45006000
on Build GRCh38
|
4516360 |
c.1836_1837GG>AA |
p.E613K |
Chr.1:
45006005-45006006
on Build GRCh38
|