1302739 |
c.565G>A |
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Chr.17:
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|
6146693 |
c.980A>G |
p.Y327C |
Chr.17:
39463051-39463051
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|
6947222 |
c.555G>C |
p.R185S |
Chr.17:
39462626-39462626
on Build GRCh38
|
6146695 |
c.793A>C |
p.S265R |
Chr.17:
39462864-39462864
on Build GRCh38
|
6962142 |
c.985C>T |
p.R329* |
Chr.17:
39463056-39463056
on Build GRCh38
|
4990974 |
c.619C>T |
p.P207S |
Chr.17:
39462690-39462690
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|
4422340 |
c.714G>T |
p.S238S |
Chr.17:
39462785-39462785
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|
7340223 |
c.995C>T |
p.S332F |
Chr.17:
39463066-39463066
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|
6218674 |
c.730C>T |
p.Q244* |
Chr.17:
39462801-39462801
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|
7360628 |
c.692C>G |
p.S231C |
Chr.17:
39462763-39462763
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|
978602 |
c.637G>A |
p.V213M |
Chr.17:
39462708-39462708
on Build GRCh38
|
6921257 |
c.716G>C |
p.G239A |
Chr.17:
39462787-39462787
on Build GRCh38
|
4935034 |
c.851C>T |
p.A284V |
Chr.17:
39462922-39462922
on Build GRCh38
|
6944854 |
c.899G>C |
p.R300T |
Chr.17:
39462970-39462970
on Build GRCh38
|
6968452 |
c.665_666insC |
p.H224fs*6 |
Chr.17:
39462736-39462737
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|
1200537 |
c.575C>A |
p.S192Y |
Chr.17:
39462646-39462646
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|
6944856 |
c.986G>T |
p.R329L |
Chr.17:
39463057-39463057
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|
6969326 |
c.655_658AGAT>TGAG |
p.R219_S220>* |
Chr.17:
39462726-39462729
on Build GRCh38
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2837862 |
c.707_708insC |
p.S238fs*10 |
Chr.17:
39462778-39462779
on Build GRCh38
|
6909174 |
c.958_959insG |
p.S320fs*31 |
Chr.17:
39463029-39463030
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|
3387839 |
c.1022C>A |
p.S341Y |
Chr.17:
39463093-39463093
on Build GRCh38
|
5590159 |
c.831C>T |
p.P277P |
Chr.17:
39462902-39462902
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|
239267 |
c.827G>C |
p.S276T |
Chr.17:
39462898-39462898
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|
7174075 |
c.906C>T |
p.V302V |
Chr.17:
39462977-39462977
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|
6930696 |
c.856C>T |
p.Q286* |
Chr.17:
39462927-39462927
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|
4890286 |
c.692C>A |
p.S231Y |
Chr.17:
39462763-39462763
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|
6944851 |
c.640G>A |
p.D214N |
Chr.17:
39462711-39462711
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|
1200534 |
c.947G>A |
p.S316N |
Chr.17:
39463018-39463018
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|
978600 |
c.623A>C |
p.K208T |
Chr.17:
39462694-39462694
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|
1324006 |
c.1028_1046+14del33 |
p.? |
Chr.17:
39463099-39463131
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|
5033091 |
c.854A>G |
p.Y285C |
Chr.17:
39462925-39462925
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|
6951976 |
c.981T>G |
p.Y327* |
Chr.17:
39463052-39463052
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|
5568075 |
c.968C>A |
p.S323* |
Chr.17:
39463039-39463039
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|
6964401 |
c.586G>T |
p.D196Y |
Chr.17:
39462657-39462657
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|
6952632 |
c.841G>A |
p.E281K |
Chr.17:
39462912-39462912
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|
6309966 |
c.675G>A |
p.R225R |
Chr.17:
39462746-39462746
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|
6625365 |
c.589C>T |
p.R197W |
Chr.17:
39462660-39462660
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|
6952899 |
c.713C>A |
p.S238* |
Chr.17:
39462784-39462784
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|
3795556 |
c.1030C>T |
p.R344W |
Chr.17:
39463101-39463101
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|
6929528 |
c.965G>A |
p.R322Q |
Chr.17:
39463036-39463036
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|
364419 |
c.713C>T |
p.S238L |
Chr.17:
39462784-39462784
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|
4410804 |
c.913T>C |
p.Y305H |
Chr.17:
39462984-39462984
on Build GRCh38
|
6923024 |
c.508_576del69 |
p.S170_S192del23 |
Chr.17:
39462579-39462647
on Build GRCh38
|
7312159 |
c.711C>T |
p.P237P |
Chr.17:
39462782-39462782
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|
6146694 |
c.968C>T |
p.S323L |
Chr.17:
39463039-39463039
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|
3665185 |
c.825C>T |
p.V275V |
Chr.17:
39462896-39462896
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|
3672428 |
c.649A>T |
p.K217* |
Chr.17:
39462720-39462720
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|
4422341 |
c.715G>T |
p.G239* |
Chr.17:
39462786-39462786
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|
4990975 |
c.986G>A |
p.R329Q |
Chr.17:
39463057-39463057
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|
5020400 |
c.714G>A |
p.S238S |
Chr.17:
39462785-39462785
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|
6944853 |
c.703G>T |
p.D235Y |
Chr.17:
39462774-39462774
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|
7204247 |
c.635C>T |
p.T212I |
Chr.17:
39462706-39462706
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|
6906930 |
c.721T>G |
p.S241A |
Chr.17:
39462792-39462792
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|
4671080 |
c.991C>T |
p.R331W |
Chr.17:
39463062-39463062
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|
6944855 |
c.940G>C |
p.E314Q |
Chr.17:
39463011-39463011
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|
2837861 |
c.640G>T |
p.D214Y |
Chr.17:
39462711-39462711
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|
6080943 |
c.848C>T |
p.S283L |
Chr.17:
39462919-39462919
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|
5770306 |
c.910C>A |
p.P304T |
Chr.17:
39462981-39462981
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|
4941587 |
c.912C>G |
p.P304P |
Chr.17:
39462983-39462983
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|
6921810 |
c.955_956insA |
p.Y319fs*1 |
Chr.17:
39463026-39463027
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|
6908902 |
c.848C>A |
p.S283* |
Chr.17:
39462919-39462919
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|
5520247 |
c.639G>T |
p.V213V |
Chr.17:
39462710-39462710
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|
6960909 |
c.628_629insA |
p.Y210fs*1 |
Chr.17:
39462699-39462700
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|
5852383 |
c.544G>A |
p.E182K |
Chr.17:
39462615-39462615
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|
6922130 |
c.733G>A |
p.D245N |
Chr.17:
39462804-39462804
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|
6934974 |
c.789G>C |
p.K263N |
Chr.17:
39462860-39462860
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|
4601921 |
c.908G>A |
p.S303N |
Chr.17:
39462979-39462979
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|
5342920 |
c.906C>A |
p.V302V |
Chr.17:
39462977-39462977
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|
94095 |
c.974G>A |
p.S325N |
Chr.17:
39463045-39463045
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|
6982060 |
c.880C>T |
p.P294S |
Chr.17:
39462951-39462951
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|
6966489 |
c.544G>T |
p.E182* |
Chr.17:
39462615-39462615
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|
3819443 |
c.738T>A |
p.Y246* |
Chr.17:
39462809-39462809
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|
239266 |
c.797delC |
p.P266fs*72 |
Chr.17:
39462868-39462868
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|
5617699 |
c.1012A>G |
p.S338G |
Chr.17:
39463083-39463083
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|
6477642 |
c.961G>T |
p.G321W |
Chr.17:
39463032-39463032
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|
6967218 |
c.856C>G |
p.Q286E |
Chr.17:
39462927-39462927
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|
6956730 |
c.787_791delAAGAA |
p.K264fs*32 |
Chr.17:
39462858-39462862
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|
4266369 |
c.749C>A |
p.P250H |
Chr.17:
39462820-39462820
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|
6944852 |
c.656G>A |
p.R219K |
Chr.17:
39462727-39462727
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|
1730243 |
c.1000A>T |
p.S334C |
Chr.17:
39463071-39463071
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|
5967254 |
c.959_966delGCGGGCGA |
p.S320fs*28 |
Chr.17:
39463030-39463037
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|
6951590 |
c.541A>T |
p.K181* |
Chr.17:
39462612-39462612
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|
6912573 |
c.673A>G |
p.R225G |
Chr.17:
39462744-39462744
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|
4510180 |
c.829C>T |
p.P277S |
Chr.17:
39462900-39462900
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|
4780747 |
c.798T>G |
p.P266P |
Chr.17:
39462869-39462869
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|
5568105 |
c.1002C>T |
p.S334S |
Chr.17:
39463073-39463073
on Build GRCh38
|
6928233 |
c.563G>A |
p.R188Q |
Chr.17:
39462634-39462634
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|
4803968 |
c.567G>T |
p.E189D |
Chr.17:
39462638-39462638
on Build GRCh38
|
4579640 |
c.839A>G |
p.K280R |
Chr.17:
39462910-39462910
on Build GRCh38
|
3387838 |
c.656G>C |
p.R219T |
Chr.17:
39462727-39462727
on Build GRCh38
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