2232741 |
c.56C>T |
p.P19L |
Chr.1:
247948913-247948913
on Build GRCh38
|
5698999 |
c.156C>A |
p.T52T |
Chr.1:
247949013-247949013
on Build GRCh38
|
7381360 |
c.47T>A |
p.L16Q |
Chr.1:
247948904-247948904
on Build GRCh38
|
6288295 |
c.155C>T |
p.T52I |
Chr.1:
247949012-247949012
on Build GRCh38
|
2232740 |
c.8A>T |
p.N3I |
Chr.1:
247948865-247948865
on Build GRCh38
|
4030635 |
c.20C>A |
p.T7K |
Chr.1:
247948877-247948877
on Build GRCh38
|
7324021 |
c.62G>A |
p.R21K |
Chr.1:
247948919-247948919
on Build GRCh38
|
5677590 |
c.157C>A |
p.H53N |
Chr.1:
247949014-247949014
on Build GRCh38
|
5623410 |
c.42G>T |
p.L14F |
Chr.1:
247948899-247948899
on Build GRCh38
|
6734195 |
c.153C>T |
p.D51D |
Chr.1:
247949010-247949010
on Build GRCh38
|
6125992 |
c.144C>G |
p.I48M |
Chr.1:
247949001-247949001
on Build GRCh38
|
4571227 |
c.40T>G |
p.L14V |
Chr.1:
247948897-247948897
on Build GRCh38
|
3486880 |
c.139C>T |
p.L47F |
Chr.1:
247948996-247948996
on Build GRCh38
|
5536096 |
c.162C>T |
p.L54L |
Chr.1:
247949019-247949019
on Build GRCh38
|
3486881 |
c.180C>T |
p.F60F |
Chr.1:
247949037-247949037
on Build GRCh38
|
4413109 |
c.145T>C |
p.F49L |
Chr.1:
247949002-247949002
on Build GRCh38
|
3486878 |
c.129C>T |
p.S43S |
Chr.1:
247948986-247948986
on Build GRCh38
|
5536095 |
c.28G>A |
p.D10N |
Chr.1:
247948885-247948885
on Build GRCh38
|
3486879 |
c.132G>A |
p.M44I |
Chr.1:
247948989-247948989
on Build GRCh38
|
3966444 |
c.93T>C |
p.V31V |
Chr.1:
247948950-247948950
on Build GRCh38
|
3486876 |
c.96C>T |
p.F32F |
Chr.1:
247948953-247948953
on Build GRCh38
|
3486877 |
c.102C>T |
p.F34F |
Chr.1:
247948959-247948959
on Build GRCh38
|
6062849 |
c.43G>T |
p.G15W |
Chr.1:
247948900-247948900
on Build GRCh38
|
3486874 |
c.33C>T |
p.F11F |
Chr.1:
247948890-247948890
on Build GRCh38
|
390356 |
c.123C>T |
p.N41N |
Chr.1:
247948980-247948980
on Build GRCh38
|
6062850 |
c.16C>A |
p.Q6K |
Chr.1:
247948873-247948873
on Build GRCh38
|
3486875 |
c.76T>C |
p.F26L |
Chr.1:
247948933-247948933
on Build GRCh38
|
1218606 |
c.62G>T |
p.R21I |
Chr.1:
247948919-247948919
on Build GRCh38
|
425896 |
c.33C>A |
p.F11L |
Chr.1:
247948890-247948890
on Build GRCh38
|
3386025 |
c.106A>C |
p.M36L |
Chr.1:
247948963-247948963
on Build GRCh38
|
425897 |
c.186G>A |
p.L62L |
Chr.1:
247949043-247949043
on Build GRCh38
|
5123991 |
c.12_15delCAAT |
p.N5fs*30 |
Chr.1:
247948869-247948872
on Build GRCh38
|
1218605 |
c.18A>C |
p.Q6H |
Chr.1:
247948875-247948875
on Build GRCh38
|
5007401 |
c.95T>C |
p.F32S |
Chr.1:
247948952-247948952
on Build GRCh38
|
5881705 |
c.184C>A |
p.L62M |
Chr.1:
247949041-247949041
on Build GRCh38
|
680553 |
c.65T>A |
p.I22N |
Chr.1:
247948922-247948922
on Build GRCh38
|
680554 |
c.3G>A |
p.M1I |
Chr.1:
247948860-247948860
on Build GRCh38
|
6300130 |
c.80T>A |
p.F27Y |
Chr.1:
247948937-247948937
on Build GRCh38
|
4957151 |
c.109G>T |
p.A37S |
Chr.1:
247948966-247948966
on Build GRCh38
|
680551 |
c.87C>G |
p.L29L |
Chr.1:
247948944-247948944
on Build GRCh38
|
4819423 |
c.186G>C |
p.L62L |
Chr.1:
247949043-247949043
on Build GRCh38
|
364950 |
c.128C>A |
p.S43Y |
Chr.1:
247948985-247948985
on Build GRCh38
|
680552 |
c.81C>T |
p.F27F |
Chr.1:
247948938-247948938
on Build GRCh38
|
6289093 |
c.126G>A |
p.L42L |
Chr.1:
247948983-247948983
on Build GRCh38
|