|
ENST00000524561.2:n.3078T>G
|
|
|
|
ENST00000528374.2:c.88T>G
|
|
|
|
ENST00000529967.6:n.1848T>G
|
|
|
|
ENST00000532220.2:n.1241T>G
|
|
|
|
ENST00000642611.2:n.3578T>G
|
|
|
|
ENST00000645004.2:n.1008T>G
|
|
|
|
ENST00000682051.1:n.3525T>G
|
|
|
|
ENST00000682110.1:n.3578T>G
|
|
|
|
ENST00000682140.1:c.3506T>G
|
ENSP00000507829.1:p.Leu1169Arg
|
|
|
ENST00000682185.1:n.4814T>G
|
|
|
|
ENST00000682204.1:c.*1647T>G
|
ENSP00000507094.1:n.*1647T>G
|
|
|
ENST00000682215.1:n.3575T>G
|
|
|
|
ENST00000682288.1:c.*1940T>G
|
ENSP00000507506.1:n.*1940T>G
|
|
|
ENST00000682442.1:n.3798T>G
|
|
|
|
ENST00000682528.1:n.3655T>G
|
|
|
|
ENST00000682673.1:n.3522T>G
|
|
|
|
ENST00000682805.1:n.3575T>G
|
|
|
|
ENST00000682965.1:c.3396+934T>G
|
ENSP00000508229.1:n.3396+934T>G
|
|
|
ENST00000683093.1:n.3677T>G
|
|
|
|
ENST00000683136.1:c.3506T>G
|
ENSP00000507768.1:p.Leu1169Arg
|
|
|
ENST00000683153.1:n.3734T>G
|
|
|
|
ENST00000683365.1:n.3680T>G
|
|
|
|
ENST00000683377.1:n.3578T>G
|
|
|
|
ENST00000683456.1:c.*646T>G
|
ENSP00000508318.1:n.*646T>G
|
|
|
ENST00000683522.1:n.3578T>G
|
|
|
|
ENST00000683562.1:c.*1678T>G
|
ENSP00000508265.1:n.*1678T>G
|
|
|
ENST00000683693.1:n.3655T>G
|
|
|
|
ENST00000683725.1:c.3509T>G
|
ENSP00000507496.1:p.Leu1170Arg
|
|
|
ENST00000684010.1:n.3573T>G
|
|
|
|
ENST00000684157.1:n.3578T>G
|
|
|
|
ENST00000684253.1:n.3481T>G
|
|
|
|
ENST00000684288.1:c.*1681T>G
|
ENSP00000507143.1:n.*1681T>G
|
|
|
ENST00000684313.1:n.3010T>G
|
|
|
|
ENST00000684332.1:n.3651T>G
|
|
|
|
ENST00000684371.1:n.3684T>G
|
|
|
|
ENST00000684404.1:n.3621T>G
|
|
|
|
ENST00000684442.1:n.3578T>G
|
|
|
|
ENST00000684555.1:c.*1721T>G
|
ENSP00000507705.1:n.*1721T>G
|
|
|
ENST00000684571.1:c.3350T>G
|
ENSP00000506935.1:p.Leu1117Arg
|
|
|
ENST00000684593.1:c.*3214T>G
|
ENSP00000507005.1:n.*3214T>G
|
|
|
ENST00000684711.1:c.*1905T>G
|
ENSP00000506841.1:n.*1905T>G
|
|
|
ENST00000302539.9:c.3512T>G
|
ENSP00000303960.4:p.Leu1171Arg
|
|
|
ENST00000389817.8:c.3509T>G
MANE Select
|
ENSP00000374467.4:p.Leu1170Arg
|
|
|
ENST00000642271.1:c.3506T>G
|
ENSP00000493749.1:p.Leu1169Arg
|
|
|
ENST00000642579.1:c.1593T>G
|
|
|
|
ENST00000642611.1:n.3463T>G
|
|
|
|
ENST00000642902.1:c.3291T>G
|
|
|
|
ENST00000643260.1:c.3509T>G
|
ENSP00000494450.1:p.Leu1170Arg
|
|
|
ENST00000643562.1:c.*1485T>G
|
ENSP00000496124.1:n.*1485T>G
|
|
|
ENST00000643925.1:c.1633T>G
|
|
|
|
ENST00000644447.1:c.1865T>G
|
ENSP00000496282.1:p.Leu622Arg
|
|
|
ENST00000644484.1:c.*1764T>G
|
ENSP00000493558.1:n.*1764T>G
|
|
|
ENST00000644675.1:c.*1681T>G
|
ENSP00000494567.1:n.*1681T>G
|
|
|
ENST00000644757.1:c.*1794T>G
|
ENSP00000495085.1:n.*1794T>G
|
|
|
ENST00000644772.1:c.3575T>G
|
ENSP00000494321.1:p.Leu1192Arg
|
|
|
ENST00000645004.1:n.648T>G
|
|
|
|
ENST00000645076.1:c.2708T>G
|
|
|
|
ENST00000645417.1:c.675T>G
|
|
|
|
ENST00000645744.1:c.*1773T>G
|
ENSP00000494564.1:n.*1773T>G
|
|
|
ENST00000645760.1:c.3784T>G
|
|
|
|
ENST00000645884.1:c.*646T>G
|
ENSP00000495516.1:n.*646T>G
|
|
|
ENST00000646003.1:c.*1465T>G
|
ENSP00000495259.1:n.*1465T>G
|
|
|
ENST00000646207.1:c.*1976T>G
|
ENSP00000495025.1:n.*1976T>G
|
|
|
ENST00000646276.1:c.*1782T>G
|
ENSP00000496070.1:n.*1782T>G
|
|
|
ENST00000646592.1:c.2815T>G
|
|
|
|
ENST00000646902.1:c.3506T>G
|
ENSP00000494101.1:p.Leu1169Arg
|
|
|
ENST00000646993.1:c.*1905T>G
|
ENSP00000493720.1:n.*1905T>G
|
|
|
ENST00000647013.1:c.3515T>G
|
ENSP00000496741.1:n.3515T>G
|
|
|
ENST00000647015.1:c.3260T>G
|
ENSP00000495389.1:p.Leu1087Arg
|
|
|
ENST00000647086.1:c.*3239T>G
|
ENSP00000493677.1:n.*3239T>G
|
|
|
ENST00000647158.1:c.*1650T>G
|
ENSP00000495744.1:n.*1650T>G
|
|
|
ENST00000302539.8:c.3512T>G
|
ENSP00000303960.4:p.Leu1171Arg
|
|
|
ENST00000389817.7:c.3509T>G
|
ENSP00000374467.3:p.Leu1170Arg
|
|
|
ENST00000524561.1:n.641T>G
|
|
|
|
ENST00000527905.5:c.*385T>G
|
ENSP00000431653.1:n.*385T>G
|
|
|
ENST00000531137.1:n.2T>G
|
|
|
|
NM_000352.4:c.3509T>G
|
NP_000343.2:p.Leu1170Arg
|
|
|
NM_001287174.1:c.3512T>G
|
NP_001274103.1:p.Leu1171Arg
|
|
|
XM_011520331.1:c.3509T>G
|
XP_011518633.1:p.Leu1170Arg
|
|
|
XM_011520332.1:c.3512T>G
|
XP_011518634.1:p.Leu1171Arg
|
|
|
XM_011520333.1:c.2009T>G
|
XP_011518635.1:p.Leu670Arg
|
|
|
XR_930890.1:n.3575T>G
|
|
|
|
XR_930892.1:n.3475T>G
|
|
|
|
XR_930893.1:n.3472T>G
|
|
|
|
NM_001351295.1:c.3575T>G
|
NP_001338224.1:p.Leu1192Arg
|
|
|
NM_001351296.1:c.3509T>G
|
NP_001338225.1:p.Leu1170Arg
|
|
|
NM_001351297.1:c.3506T>G
|
NP_001338226.1:p.Leu1169Arg
|
|
|
NR_147094.1:n.3658T>G
|
|
|
|
XM_017018197.2:c.3578T>G
|
XP_016873686.1:p.Leu1193Arg
|
|
|
XM_017018199.1:c.3575T>G
|
XP_016873688.1:p.Leu1192Arg
|
|
|
XM_017018201.2:c.3578T>G
|
XP_016873690.1:p.Leu1193Arg
|
|
|
XM_017018202.1:c.2075T>G
|
XP_016873691.1:p.Leu692Arg
|
|
|
XM_017018204.1:c.1466T>G
|
XP_016873693.1:p.Leu489Arg
|
|
|
XM_024448668.1:c.1877T>G
|
XP_024304436.1:p.Leu626Arg
|
|
|
XR_001747945.2:n.3650T>G
|
|
|
|
XR_001747946.2:n.3581T>G
|
|
|
|
XR_002957189.1:n.3730T>G
|
|
|
|
NM_000352.6:c.3509T>G
MANE Select
|
NP_000343.2:p.Leu1170Arg
|
|
|
NM_001287174.2:c.3512T>G
|
NP_001274103.1:p.Leu1171Arg
|
|
|
NM_001351295.2:c.3575T>G
|
NP_001338224.1:p.Leu1192Arg
|
|
|
NM_001351296.2:c.3509T>G
|
NP_001338225.1:p.Leu1170Arg
|
|
|
NM_001351297.2:c.3506T>G
|
NP_001338226.1:p.Leu1169Arg
|
|
|
NR_147094.2:n.3658T>G
|
|
|
|
NM_001287174.3:c.3512T>G
|
NP_001274103.1:p.Leu1171Arg
|
|
