| 14104 |
c.1_*del |
p.0 |
Chr.18:
51047047-51078467
on Build GRCh38
|
| 6965857 |
c.542C>T |
p.T181I |
Chr.18:
51054868-51054868
on Build GRCh38
|
| 5030960 |
c.527G>A |
p.G176E |
Chr.18:
51054853-51054853
on Build GRCh38
|
| 6438227 |
c.623C>T |
p.A208V |
Chr.18:
51054949-51054949
on Build GRCh38
|
| 14157 |
c.607_608delCC |
p.P203fs*2 |
Chr.18:
51054933-51054934
on Build GRCh38
|
| 6784674 |
c.507_508insCCAT |
p.L172fs*5 |
Chr.18:
51054833-51054834
on Build GRCh38
|
| 7148725 |
c.499G>C |
p.E167Q |
Chr.18:
51054825-51054825
on Build GRCh38
|
| 6965372 |
c.536T>G |
p.I179S |
Chr.18:
51054862-51054862
on Build GRCh38
|
| 14102 |
c.585delC |
p.Y195fs*1 |
Chr.18:
51054911-51054911
on Build GRCh38
|
| 6191581 |
c.505C>T |
p.Q169* |
Chr.18:
51054831-51054831
on Build GRCh38
|
| 6438236 |
c.605C>T |
p.A202V |
Chr.18:
51054931-51054931
on Build GRCh38
|
| 6475994 |
c.606C>T |
p.A202A |
Chr.18:
51054932-51054932
on Build GRCh38
|
| 7329895 |
c.627C>A |
p.T209T |
Chr.18:
51054953-51054953
on Build GRCh38
|
| 318051 |
c.535A>T |
p.I179F |
Chr.18:
51054861-51054861
on Build GRCh38
|
| 1151109 |
c.512C>A |
p.S171* |
Chr.18:
51054838-51054838
on Build GRCh38
|
| 5945915 |
c.572C>T |
p.S191L |
Chr.18:
51054898-51054898
on Build GRCh38
|
| 6953236 |
c.477G>T |
p.K159N |
Chr.18:
51054803-51054803
on Build GRCh38
|
| 308153 |
c.547C>T |
p.Q183* |
Chr.18:
51054873-51054873
on Build GRCh38
|
| 6438231 |
c.593C>T |
p.P198L |
Chr.18:
51054919-51054919
on Build GRCh38
|
| 1152191 |
c.590C>T |
p.T197I |
Chr.18:
51054916-51054916
on Build GRCh38
|
| 6438234 |
c.542_542delC |
p.I182fs*20 |
Chr.18:
51054868-51054868
on Build GRCh38
|
| 6475964 |
c.577G>T |
p.E193* |
Chr.18:
51054903-51054903
on Build GRCh38
|
| 6937995 |
c.508C>G |
p.P170A |
Chr.18:
51054834-51054834
on Build GRCh38
|
| 2879550 |
c.573G>A |
p.S191S |
Chr.18:
51054899-51054899
on Build GRCh38
|
| 3388463 |
c.523G>C |
p.E175Q |
Chr.18:
51054849-51054849
on Build GRCh38
|
| 7343425 |
c.554C>T |
p.P185L |
Chr.18:
51054880-51054880
on Build GRCh38
|
| 5945984 |
c.553_556delCCAC |
p.P185fs*16 |
Chr.18:
51054879-51054882
on Build GRCh38
|
| 6438242 |
c.569C>T |
p.A190V |
Chr.18:
51054895-51054895
on Build GRCh38
|
| 14119 |
c.585C>A |
p.Y195* |
Chr.18:
51054911-51054911
on Build GRCh38
|
| 3989584 |
c.481G>A |
p.E161K |
Chr.18:
51054807-51054807
on Build GRCh38
|
| 6438218 |
c.613G>T |
p.E205* |
Chr.18:
51054939-51054939
on Build GRCh38
|
| 6475980 |
c.573G>T |
p.S191S |
Chr.18:
51054899-51054899
on Build GRCh38
|
| 709388 |
c.611C>A |
p.S204Y |
Chr.18:
51054937-51054937
on Build GRCh38
|
| 6972851 |
c.523G>T |
p.E175* |
Chr.18:
51054849-51054849
on Build GRCh38
|
| 1226725 |
c.533C>A |
p.S178* |
Chr.18:
51054859-51054859
on Build GRCh38
|
| 6842408 |
c.533_533delC |
p.S178fs*1 |
Chr.18:
51054859-51054859
on Build GRCh38
|
| 6475936 |
c.579G>T |
p.E193D |
Chr.18:
51054905-51054905
on Build GRCh38
|
| 14180 |
c.608C>T |
p.P203L |
Chr.18:
51054934-51054934
on Build GRCh38
|
| 1151777 |
c.514T>A |
p.L172M |
Chr.18:
51054840-51054840
on Build GRCh38
|
| 14101 |
c.484_485delTA |
p.Y162fs*3 |
Chr.18:
51054810-51054811
on Build GRCh38
|
| 6896806 |
c.474G>A |
p.V158V |
Chr.18:
51054800-51054800
on Build GRCh38
|
| 6191570 |
c.587G>A |
p.S196N |
Chr.18:
51054913-51054913
on Build GRCh38
|
| 6438237 |
c.615G>T |
p.E205D |
Chr.18:
51054941-51054941
on Build GRCh38
|
| 6438233 |
c.518C>T |
p.S173F |
Chr.18:
51054844-51054844
on Build GRCh38
|
| 6191676 |
c.515T>A |
p.L172* |
Chr.18:
51054841-51054841
on Build GRCh38
|
| 5610594 |
c.512C>T |
p.S171L |
Chr.18:
51054838-51054838
on Build GRCh38
|
| 6475993 |
c.501G>C |
p.E167D |
Chr.18:
51054827-51054827
on Build GRCh38
|
| 6438235 |
c.572_572delC |
p.S191fs*1 |
Chr.18:
51054898-51054898
on Build GRCh38
|
| 7410347 |
c.481G>T |
p.E161* |
Chr.18:
51054807-51054807
on Build GRCh38
|
| 6984169 |
c.523_526GAAG>AAAT |
p.E175_G176>K* |
Chr.18:
51054849-51054852
on Build GRCh38
|
| 1582844 |
c.533C>G |
p.S178* |
Chr.18:
51054859-51054859
on Build GRCh38
|
| 6475968 |
c.524A>G |
p.E175G |
Chr.18:
51054850-51054850
on Build GRCh38
|
| 6438211 |
c.611C>T |
p.S204F |
Chr.18:
51054937-51054937
on Build GRCh38
|
| 14118 |
c.502G>T |
p.G168* |
Chr.18:
51054828-51054828
on Build GRCh38
|
| 6475937 |
c.589A>G |
p.T197A |
Chr.18:
51054915-51054915
on Build GRCh38
|
| 3989585 |
c.491A>G |
p.H164R |
Chr.18:
51054817-51054817
on Build GRCh38
|
| 6475979 |
c.542C>A |
p.T181N |
Chr.18:
51054868-51054868
on Build GRCh38
|
| 6438217 |
c.611_611delC |
p.S204fs*37 |
Chr.18:
51054937-51054937
on Build GRCh38
|
| 6475981 |
c.575C>T |
p.T192I |
Chr.18:
51054901-51054901
on Build GRCh38
|
| 4580445 |
c.565C>T |
p.R189C |
Chr.18:
51054891-51054891
on Build GRCh38
|
| 6961295 |
c.490_508del19 |
p.D165fs*31 |
Chr.18:
51054816-51054834
on Build GRCh38
|