|
ENST00000524561.2:n.3768T>G
|
|
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|
ENST00000528374.2:c.758T>G
|
|
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ENST00000529967.6:n.2506T>G
|
|
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ENST00000532220.2:n.3400T>G
|
|
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ENST00000642611.2:n.5367T>G
|
|
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ENST00000644057.2:n.610T>G
|
|
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ENST00000645004.2:n.1666T>G
|
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ENST00000682051.1:n.4329T>G
|
|
|
|
ENST00000682110.1:n.4382T>G
|
|
|
|
ENST00000682140.1:c.4033T>G
|
ENSP00000507829.1:p.Cys1345Gly
|
|
|
ENST00000682185.1:n.5472T>G
|
|
|
|
ENST00000682204.1:c.*2305T>G
|
ENSP00000507094.1:n.*2305T>G
|
|
|
ENST00000682215.1:n.4749T>G
|
|
|
|
ENST00000682288.1:c.*2598T>G
|
ENSP00000507506.1:n.*2598T>G
|
|
|
ENST00000682442.1:n.4602T>G
|
|
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ENST00000682528.1:n.4459T>G
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ENST00000682673.1:n.4326T>G
|
|
|
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ENST00000682805.1:n.4787T>G
|
|
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|
ENST00000682965.1:c.*589T>G
|
ENSP00000508229.1:n.*589T>G
|
|
|
ENST00000683093.1:n.5466T>G
|
|
|
|
ENST00000683136.1:c.4050T>G
|
ENSP00000507768.1:p.Leu1350=
|
|
|
ENST00000683153.1:n.4424T>G
|
|
|
|
ENST00000683365.1:n.4484T>G
|
|
|
|
ENST00000683377.1:n.4382T>G
|
|
|
|
ENST00000683456.1:c.*1304T>G
|
ENSP00000508318.1:n.*1304T>G
|
|
|
ENST00000683522.1:n.4382T>G
|
|
|
|
ENST00000683562.1:c.*2336T>G
|
ENSP00000508265.1:n.*2336T>G
|
|
|
ENST00000683693.1:n.5814T>G
|
|
|
|
ENST00000683725.1:c.4167T>G
|
ENSP00000507496.1:p.Leu1389=
|
|
|
ENST00000684010.1:n.4377T>G
|
|
|
|
ENST00000684157.1:n.5367T>G
|
|
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|
ENST00000684253.1:n.4285T>G
|
|
|
|
ENST00000684288.1:c.*2339T>G
|
ENSP00000507143.1:n.*2339T>G
|
|
|
ENST00000684313.1:n.3814T>G
|
|
|
|
ENST00000684332.1:n.4455T>G
|
|
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|
ENST00000684371.1:n.4488T>G
|
|
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ENST00000684404.1:n.5410T>G
|
|
|
|
ENST00000684442.1:n.4606T>G
|
|
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|
ENST00000684555.1:c.*2379T>G
|
ENSP00000507705.1:n.*2379T>G
|
|
|
ENST00000684571.1:c.4008T>G
|
ENSP00000506935.1:p.Leu1336=
|
|
|
ENST00000684593.1:c.*3872T>G
|
ENSP00000507005.1:n.*3872T>G
|
|
|
ENST00000684711.1:c.*2563T>G
|
ENSP00000506841.1:n.*2563T>G
|
|
|
ENST00000302539.9:c.4170T>G
|
ENSP00000303960.4:p.Leu1390=
|
|
|
ENST00000389817.8:c.4167T>G
MANE Select
|
ENSP00000374467.4:p.Leu1389=
|
|
|
ENST00000642271.1:c.4164T>G
|
ENSP00000493749.1:p.Leu1388=
|
|
|
ENST00000642579.1:c.2221T>G
|
|
|
|
ENST00000642611.1:n.5252T>G
|
|
|
|
ENST00000642902.1:c.3949T>G
|
|
|
|
ENST00000643260.1:c.4167T>G
|
ENSP00000494450.1:p.Leu1389=
|
|
|
ENST00000643562.1:c.*2289T>G
|
ENSP00000496124.1:n.*2289T>G
|
|
|
ENST00000643925.1:c.2807T>G
|
|
|
|
ENST00000644057.1:n.244T>G
|
|
|
|
ENST00000644484.1:c.*3553T>G
|
ENSP00000493558.1:n.*3553T>G
|
|
|
ENST00000644675.1:c.*2339T>G
|
ENSP00000494567.1:n.*2339T>G
|
|
|
ENST00000644757.1:c.*3202+381T>G
|
ENSP00000495085.1:n.*3202+381T>G
|
|
|
ENST00000644772.1:c.4233T>G
|
ENSP00000494321.1:p.Leu1411=
|
|
|
ENST00000645004.1:n.1860T>G
|
|
|
|
ENST00000645076.1:c.3366T>G
|
|
|
|
ENST00000645417.1:c.1355T>G
|
|
|
|
ENST00000645744.1:c.*3932T>G
|
ENSP00000494564.1:n.*3932T>G
|
|
|
ENST00000645760.1:c.4588T>G
|
|
|
|
ENST00000645884.1:c.*1450T>G
|
ENSP00000495516.1:n.*1450T>G
|
|
|
ENST00000646003.1:c.*2269T>G
|
ENSP00000495259.1:n.*2269T>G
|
|
|
ENST00000646207.1:c.*3004T>G
|
ENSP00000495025.1:n.*3004T>G
|
|
|
ENST00000646276.1:c.*3571T>G
|
ENSP00000496070.1:n.*3571T>G
|
|
|
ENST00000646592.1:c.3473T>G
|
|
|
|
ENST00000646902.1:c.4134T>G
|
ENSP00000494101.1:p.Leu1378=
|
|
|
ENST00000646993.1:c.*2709T>G
|
ENSP00000493720.1:n.*2709T>G
|
|
|
ENST00000647013.1:c.4173T>G
|
ENSP00000496741.1:n.4173T>G
|
|
|
ENST00000647015.1:c.3918T>G
|
ENSP00000495389.1:p.Leu1306=
|
|
|
ENST00000647086.1:c.*3753T>G
|
ENSP00000493677.1:n.*3753T>G
|
|
|
ENST00000647158.1:c.*2454T>G
|
ENSP00000495744.1:n.*2454T>G
|
|
|
ENST00000302539.8:c.4170T>G
|
ENSP00000303960.4:p.Leu1390=
|
|
|
ENST00000389817.7:c.4167T>G
|
ENSP00000374467.3:p.Leu1389=
|
|
|
ENST00000525022.1:n.33T>G
|
|
|
|
ENST00000526168.5:c.35T>G
|
|
|
|
ENST00000531642.5:c.3T>G
|
|
|
|
NM_000352.4:c.4167T>G
|
NP_000343.2:p.Leu1389=
|
|
|
NM_001287174.1:c.4170T>G
|
NP_001274103.1:p.Leu1390=
|
|
|
XM_011520331.1:c.4167T>G
|
XP_011518633.1:p.Leu1389=
|
|
|
XM_011520332.1:c.4170T>G
|
XP_011518634.1:p.Leu1390=
|
|
|
XM_011520333.1:c.2667T>G
|
XP_011518635.1:p.Leu889=
|
|
|
XR_930890.1:n.4233T>G
|
|
|
|
NM_001351295.1:c.4233T>G
|
NP_001338224.1:p.Leu1411=
|
|
|
NM_001351296.1:c.4167T>G
|
NP_001338225.1:p.Leu1389=
|
|
|
NM_001351297.1:c.4164T>G
|
NP_001338226.1:p.Leu1388=
|
|
|
NR_147094.1:n.4462T>G
|
|
|
|
XM_017018197.2:c.4236T>G
|
XP_016873686.1:p.Leu1412=
|
|
|
XM_017018199.1:c.4233T>G
|
XP_016873688.1:p.Leu1411=
|
|
|
XM_017018201.2:c.4236T>G
|
XP_016873690.1:p.Leu1412=
|
|
|
XM_017018202.1:c.2733T>G
|
XP_016873691.1:p.Leu911=
|
|
|
XM_017018204.1:c.2124T>G
|
XP_016873693.1:p.Leu708=
|
|
|
XM_024448668.1:c.2535T>G
|
XP_024304436.1:p.Leu845=
|
|
|
XR_001747945.2:n.4308T>G
|
|
|
|
XR_001747946.2:n.4239T>G
|
|
|
|
XR_002957189.1:n.5889T>G
|
|
|
|
NM_000352.6:c.4167T>G
MANE Select
|
NP_000343.2:p.Leu1389=
|
|
|
NM_001287174.2:c.4170T>G
|
NP_001274103.1:p.Leu1390=
|
|
|
NM_001351295.2:c.4233T>G
|
NP_001338224.1:p.Leu1411=
|
|
|
NM_001351296.2:c.4167T>G
|
NP_001338225.1:p.Leu1389=
|
|
|
NM_001351297.2:c.4164T>G
|
NP_001338226.1:p.Leu1388=
|
|
|
NR_147094.2:n.4462T>G
|
|
|
|
NM_001287174.3:c.4170T>G
|
NP_001274103.1:p.Leu1390=
|
|
