|
ENST00000524561.2:n.3773T>G
|
|
|
|
ENST00000528374.2:c.763T>G
|
|
|
|
ENST00000529967.6:n.2511T>G
|
|
|
|
ENST00000532220.2:n.3405T>G
|
|
|
|
ENST00000642611.2:n.5372T>G
|
|
|
|
ENST00000644057.2:n.615T>G
|
|
|
|
ENST00000645004.2:n.1671T>G
|
|
|
|
ENST00000682051.1:n.4334T>G
|
|
|
|
ENST00000682110.1:n.4387T>G
|
|
|
|
ENST00000682140.1:c.4038T>G
|
ENSP00000507829.1:p.Leu1346=
|
|
|
ENST00000682185.1:n.5477T>G
|
|
|
|
ENST00000682204.1:c.*2310T>G
|
ENSP00000507094.1:n.*2310T>G
|
|
|
ENST00000682215.1:n.4754T>G
|
|
|
|
ENST00000682288.1:c.*2603T>G
|
ENSP00000507506.1:n.*2603T>G
|
|
|
ENST00000682442.1:n.4607T>G
|
|
|
|
ENST00000682528.1:n.4464T>G
|
|
|
|
ENST00000682673.1:n.4331T>G
|
|
|
|
ENST00000682805.1:n.4792T>G
|
|
|
|
ENST00000682965.1:c.*594T>G
|
ENSP00000508229.1:n.*594T>G
|
|
|
ENST00000683093.1:n.5471T>G
|
|
|
|
ENST00000683136.1:c.4055T>G
|
ENSP00000507768.1:p.Phe1352Cys
|
|
|
ENST00000683153.1:n.4429T>G
|
|
|
|
ENST00000683365.1:n.4489T>G
|
|
|
|
ENST00000683377.1:n.4387T>G
|
|
|
|
ENST00000683456.1:c.*1309T>G
|
ENSP00000508318.1:n.*1309T>G
|
|
|
ENST00000683522.1:n.4387T>G
|
|
|
|
ENST00000683562.1:c.*2341T>G
|
ENSP00000508265.1:n.*2341T>G
|
|
|
ENST00000683693.1:n.5819T>G
|
|
|
|
ENST00000683725.1:c.4172T>G
|
ENSP00000507496.1:p.Phe1391Cys
|
|
|
ENST00000684010.1:n.4382T>G
|
|
|
|
ENST00000684157.1:n.5372T>G
|
|
|
|
ENST00000684253.1:n.4290T>G
|
|
|
|
ENST00000684288.1:c.*2344T>G
|
ENSP00000507143.1:n.*2344T>G
|
|
|
ENST00000684313.1:n.3819T>G
|
|
|
|
ENST00000684332.1:n.4460T>G
|
|
|
|
ENST00000684371.1:n.4493T>G
|
|
|
|
ENST00000684404.1:n.5415T>G
|
|
|
|
ENST00000684442.1:n.4611T>G
|
|
|
|
ENST00000684555.1:c.*2384T>G
|
ENSP00000507705.1:n.*2384T>G
|
|
|
ENST00000684571.1:c.4013T>G
|
ENSP00000506935.1:p.Phe1338Cys
|
|
|
ENST00000684593.1:c.*3877T>G
|
ENSP00000507005.1:n.*3877T>G
|
|
|
ENST00000684711.1:c.*2568T>G
|
ENSP00000506841.1:n.*2568T>G
|
|
|
ENST00000302539.9:c.4175T>G
|
ENSP00000303960.4:p.Phe1392Cys
|
|
|
ENST00000389817.8:c.4172T>G
MANE Select
|
ENSP00000374467.4:p.Phe1391Cys
|
|
|
ENST00000642271.1:c.4169T>G
|
ENSP00000493749.1:p.Phe1390Cys
|
|
|
ENST00000642579.1:c.2226T>G
|
|
|
|
ENST00000642611.1:n.5257T>G
|
|
|
|
ENST00000642902.1:c.3954T>G
|
|
|
|
ENST00000643260.1:c.4172T>G
|
ENSP00000494450.1:p.Phe1391Cys
|
|
|
ENST00000643562.1:c.*2294T>G
|
ENSP00000496124.1:n.*2294T>G
|
|
|
ENST00000643925.1:c.2812T>G
|
|
|
|
ENST00000644057.1:n.249T>G
|
|
|
|
ENST00000644484.1:c.*3558T>G
|
ENSP00000493558.1:n.*3558T>G
|
|
|
ENST00000644675.1:c.*2344T>G
|
ENSP00000494567.1:n.*2344T>G
|
|
|
ENST00000644757.1:c.*3202+386T>G
|
ENSP00000495085.1:n.*3202+386T>G
|
|
|
ENST00000644772.1:c.4238T>G
|
ENSP00000494321.1:p.Phe1413Cys
|
|
|
ENST00000645004.1:n.1865T>G
|
|
|
|
ENST00000645076.1:c.3371T>G
|
|
|
|
ENST00000645417.1:c.1360T>G
|
|
|
|
ENST00000645744.1:c.*3937T>G
|
ENSP00000494564.1:n.*3937T>G
|
|
|
ENST00000645760.1:c.4593T>G
|
|
|
|
ENST00000645884.1:c.*1455T>G
|
ENSP00000495516.1:n.*1455T>G
|
|
|
ENST00000646003.1:c.*2274T>G
|
ENSP00000495259.1:n.*2274T>G
|
|
|
ENST00000646207.1:c.*3009T>G
|
ENSP00000495025.1:n.*3009T>G
|
|
|
ENST00000646276.1:c.*3576T>G
|
ENSP00000496070.1:n.*3576T>G
|
|
|
ENST00000646592.1:c.3478T>G
|
|
|
|
ENST00000646902.1:c.4139T>G
|
ENSP00000494101.1:p.Phe1380Cys
|
|
|
ENST00000646993.1:c.*2714T>G
|
ENSP00000493720.1:n.*2714T>G
|
|
|
ENST00000647013.1:c.4178T>G
|
ENSP00000496741.1:n.4178T>G
|
|
|
ENST00000647015.1:c.3923T>G
|
ENSP00000495389.1:p.Phe1308Cys
|
|
|
ENST00000647086.1:c.*3758T>G
|
ENSP00000493677.1:n.*3758T>G
|
|
|
ENST00000647158.1:c.*2459T>G
|
ENSP00000495744.1:n.*2459T>G
|
|
|
ENST00000302539.8:c.4175T>G
|
ENSP00000303960.4:p.Phe1392Cys
|
|
|
ENST00000389817.7:c.4172T>G
|
ENSP00000374467.3:p.Phe1391Cys
|
|
|
ENST00000525022.1:n.38T>G
|
|
|
|
ENST00000526168.5:c.40T>G
|
|
|
|
ENST00000531642.5:c.8T>G
|
|
|
|
NM_000352.4:c.4172T>G
|
NP_000343.2:p.Phe1391Cys
|
|
|
NM_001287174.1:c.4175T>G
|
NP_001274103.1:p.Phe1392Cys
|
|
|
XM_011520331.1:c.4172T>G
|
XP_011518633.1:p.Phe1391Cys
|
|
|
XM_011520332.1:c.4175T>G
|
XP_011518634.1:p.Phe1392Cys
|
|
|
XM_011520333.1:c.2672T>G
|
XP_011518635.1:p.Phe891Cys
|
|
|
XR_930890.1:n.4238T>G
|
|
|
|
NM_001351295.1:c.4238T>G
|
NP_001338224.1:p.Phe1413Cys
|
|
|
NM_001351296.1:c.4172T>G
|
NP_001338225.1:p.Phe1391Cys
|
|
|
NM_001351297.1:c.4169T>G
|
NP_001338226.1:p.Phe1390Cys
|
|
|
NR_147094.1:n.4467T>G
|
|
|
|
XM_017018197.2:c.4241T>G
|
XP_016873686.1:p.Phe1414Cys
|
|
|
XM_017018199.1:c.4238T>G
|
XP_016873688.1:p.Phe1413Cys
|
|
|
XM_017018201.2:c.4241T>G
|
XP_016873690.1:p.Phe1414Cys
|
|
|
XM_017018202.1:c.2738T>G
|
XP_016873691.1:p.Phe913Cys
|
|
|
XM_017018204.1:c.2129T>G
|
XP_016873693.1:p.Phe710Cys
|
|
|
XM_024448668.1:c.2540T>G
|
XP_024304436.1:p.Phe847Cys
|
|
|
XR_001747945.2:n.4313T>G
|
|
|
|
XR_001747946.2:n.4244T>G
|
|
|
|
XR_002957189.1:n.5894T>G
|
|
|
|
NM_000352.6:c.4172T>G
MANE Select
|
NP_000343.2:p.Phe1391Cys
|
|
|
NM_001287174.2:c.4175T>G
|
NP_001274103.1:p.Phe1392Cys
|
|
|
NM_001351295.2:c.4238T>G
|
NP_001338224.1:p.Phe1413Cys
|
|
|
NM_001351296.2:c.4172T>G
|
NP_001338225.1:p.Phe1391Cys
|
|
|
NM_001351297.2:c.4169T>G
|
NP_001338226.1:p.Phe1390Cys
|
|
|
NR_147094.2:n.4467T>G
|
|
|
|
NM_001287174.3:c.4175T>G
|
NP_001274103.1:p.Phe1392Cys
|
|
