|
ENST00000402135.8:c.636C>T
|
ENSP00000385021.3:p.Ile212=
|
|
|
ENST00000403295.8:c.621C>T
|
ENSP00000386097.3:p.Ile207=
|
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|
ENST00000403676.6:c.*184C>T
|
ENSP00000384046.2:n.*184C>T
|
|
|
ENST00000417361.2:c.*199C>T
|
ENSP00000389448.2:n.*199C>T
|
|
|
ENST00000427708.7:c.666C>T
|
ENSP00000400969.3:p.Ile222=
|
|
|
ENST00000446381.6:c.177C>T
|
ENSP00000390991.2:p.Ile59=
|
|
|
ENST00000449070.6:c.444C>T
|
ENSP00000401280.2:p.Ile148=
|
|
|
ENST00000470506.2:n.695C>T
|
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|
ENST00000696305.1:c.564C>T
|
ENSP00000512543.1:p.Ile188=
|
|
|
ENST00000696306.1:c.*71C>T
|
ENSP00000512544.1:n.*71C>T
|
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ENST00000696307.1:c.621C>T
|
ENSP00000512545.1:p.Ile207=
|
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ENST00000696314.1:c.621C>T
|
ENSP00000512552.1:p.Ile207=
|
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|
ENST00000696315.1:c.*184C>T
|
ENSP00000512553.1:n.*184C>T
|
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ENST00000696316.1:c.621C>T
|
ENSP00000512554.1:p.Ile207=
|
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|
ENST00000696317.1:c.621C>T
|
ENSP00000512555.1:p.Ile207=
|
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|
ENST00000696318.1:c.177C>T
|
ENSP00000512556.1:p.Ile59=
|
|
|
ENST00000696319.1:c.579C>T
|
ENSP00000512557.1:p.Ile193=
|
|
|
ENST00000696320.1:n.633C>T
|
|
|
|
ENST00000696324.1:c.*199C>T
|
ENSP00000512561.1:n.*199C>T
|
|
|
ENST00000696325.1:n.3704C>T
|
|
|
|
ENST00000696326.1:c.681C>T
|
ENSP00000512562.1:p.Ile227=
|
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|
ENST00000696338.1:n.654C>T
|
|
|
|
ENST00000696339.1:n.115C>T
|
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ENST00000696340.1:n.641C>T
|
|
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ENST00000696341.1:n.689C>T
|
|
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|
ENST00000696342.1:c.*184C>T
|
ENSP00000512569.1:n.*184C>T
|
|
|
ENST00000696343.1:n.2480C>T
|
|
|
|
ENST00000696344.1:c.*335C>T
|
ENSP00000512570.1:n.*335C>T
|
|
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ENST00000696345.1:n.648C>T
|
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ENST00000696346.1:n.290C>T
|
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ENST00000696358.1:n.648C>T
|
|
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ENST00000696360.1:n.1325C>T
|
|
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|
ENST00000696361.1:c.*184C>T
|
ENSP00000512579.1:n.*184C>T
|
|
|
ENST00000696362.1:c.*71C>T
|
ENSP00000512580.1:n.*71C>T
|
|
|
ENST00000696363.1:n.2398C>T
|
|
|
|
ENST00000696364.1:n.574C>T
|
|
|
|
ENST00000696371.1:c.612C>T
|
ENSP00000512586.1:p.Ile204=
|
|
|
ENST00000696373.1:c.*184C>T
|
ENSP00000512587.1:n.*184C>T
|
|
|
ENST00000696374.1:c.*71C>T
|
ENSP00000512588.1:n.*71C>T
|
|
|
ENST00000696375.1:n.7114C>T
|
|
|
|
ENST00000696376.1:n.4740C>T
|
|
|
|
ENST00000696377.1:n.508C>T
|
|
|
|
ENST00000696378.1:c.*199C>T
|
ENSP00000512589.1:n.*199C>T
|
|
|
ENST00000696379.1:c.*184C>T
|
ENSP00000512590.1:n.*184C>T
|
|
|
ENST00000696380.1:n.401C>T
|
|
|
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ENST00000696394.1:n.3683C>T
|
|
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ENST00000696395.1:n.189C>T
|
|
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ENST00000696396.1:n.1335C>T
|
|
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ENST00000696397.1:n.2306C>T
|
|
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|
ENST00000696398.1:c.621C>T
|
ENSP00000512604.1:p.Ile207=
|
|
|
ENST00000696399.1:n.228C>T
|
|
|
|
ENST00000696400.1:c.*385C>T
|
ENSP00000512605.1:n.*385C>T
|
|
|
ENST00000696401.1:n.603C>T
|
|
|
|
ENST00000696409.1:c.*184C>T
|
ENSP00000512610.1:n.*184C>T
|
|
|
ENST00000696410.1:c.*184C>T
|
ENSP00000512611.1:n.*184C>T
|
|
|
ENST00000696411.1:n.245C>T
|
|
|
|
ENST00000696412.1:n.1120C>T
|
|
|
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ENST00000696413.1:n.751C>T
|
|
|
|
ENST00000696414.1:n.1227C>T
|
|
|
|
ENST00000696415.1:c.636C>T
|
ENSP00000512612.1:p.Ile212=
|
|
|
ENST00000696416.1:n.189C>T
|
|
|
|
ENST00000696417.1:c.*351C>T
|
ENSP00000512613.1:n.*351C>T
|
|
|
ENST00000696432.1:n.3080C>T
|
|
|
|
ENST00000696433.1:c.177C>T
|
ENSP00000512627.1:p.Ile59=
|
|
|
ENST00000696434.1:c.459C>T
|
ENSP00000512628.1:p.Ile153=
|
|
|
ENST00000696435.1:c.177C>T
|
ENSP00000512629.1:p.Ile59=
|
|
|
ENST00000696436.1:n.657C>T
|
|
|
|
ENST00000696437.1:n.1038C>T
|
|
|
|
ENST00000696438.1:c.*454C>T
|
ENSP00000512630.1:n.*454C>T
|
|
|
ENST00000696439.1:n.2670C>T
|
|
|
|
ENST00000696440.1:n.1785C>T
|
|
|
|
ENST00000696454.1:c.*184C>T
|
ENSP00000512641.1:n.*184C>T
|
|
|
ENST00000696455.1:c.459C>T
|
ENSP00000512642.1:p.Ile153=
|
|
|
ENST00000696457.1:c.177C>T
|
ENSP00000512643.1:p.Ile59=
|
|
|
ENST00000696458.1:c.564C>T
|
ENSP00000512644.1:p.Ile188=
|
|
|
ENST00000696459.1:c.*184C>T
|
ENSP00000512645.1:n.*184C>T
|
|
|
ENST00000696460.1:n.678C>T
|
|
|
|
ENST00000696467.1:c.*199C>T
|
ENSP00000512648.1:n.*199C>T
|
|
|
ENST00000696468.1:c.*113C>T
|
ENSP00000512649.1:n.*113C>T
|
|
|
ENST00000696469.1:c.636C>T
|
ENSP00000512650.1:p.Ile212=
|
|
|
ENST00000696470.1:n.143C>T
|
|
|
|
ENST00000696471.1:n.291C>T
|
|
|
|
ENST00000696472.1:c.636C>T
|
ENSP00000512651.1:p.Ile212=
|
|
|
ENST00000696473.1:c.*304C>T
|
ENSP00000512652.1:n.*304C>T
|
|
|
ENST00000696474.1:n.543C>T
|
|
|
|
ENST00000696475.1:n.2257C>T
|
|
|
|
ENST00000696492.1:c.*286C>T
|
ENSP00000512662.1:n.*286C>T
|
|
|
ENST00000696493.1:c.*469C>T
|
ENSP00000512663.1:n.*469C>T
|
|
|
ENST00000696494.1:n.781C>T
|
|
|
|
ENST00000696495.1:c.*367C>T
|
ENSP00000512664.1:n.*367C>T
|
|
|
ENST00000696496.1:n.720C>T
|
|
|
|
ENST00000696497.1:n.3918C>T
|
|
|
|
ENST00000696498.1:n.1508C>T
|
|
|
|
ENST00000696499.1:c.*58C>T
|
ENSP00000512665.1:n.*58C>T
|
|
|
ENST00000696508.1:c.*184C>T
|
ENSP00000512674.1:n.*184C>T
|
|
|
ENST00000696509.1:c.*58C>T
|
ENSP00000512675.1:n.*58C>T
|
|
|
ENST00000696510.1:c.177C>T
|
ENSP00000512676.1:p.Ile59=
|
|
|
ENST00000696527.1:c.621C>T
|
ENSP00000512690.1:p.Ile207=
|
|
|
ENST00000696528.1:c.564C>T
|
ENSP00000512691.1:p.Ile188=
|
|
|
ENST00000696529.1:n.484C>T
|
|
|
|
ENST00000696530.1:c.417C>T
|
ENSP00000512692.1:p.Ile139=
|
|
|
ENST00000696531.1:c.*199C>T
|
ENSP00000512693.1:n.*199C>T
|
|
|
ENST00000696532.1:n.1768C>T
|
|
|
|
ENST00000696542.1:n.119C>T
|
|
|
|
ENST00000696543.1:c.444C>T
|
ENSP00000512703.1:p.Ile148=
|
|
|
ENST00000696544.1:c.501C>T
|
ENSP00000512704.1:p.Ile167=
|
|
|
ENST00000696545.1:c.*335C>T
|
ENSP00000512705.1:n.*335C>T
|
|
|
ENST00000696546.1:c.*400C>T
|
ENSP00000512706.1:n.*400C>T
|
|
|
ENST00000696547.1:c.609C>T
|
ENSP00000512707.1:p.Ile203=
|
|
|
ENST00000696548.1:c.*385C>T
|
ENSP00000512708.1:n.*385C>T
|
|
|
ENST00000696564.1:c.666C>T
|
ENSP00000512722.1:p.Ile222=
|
|
|
ENST00000696565.1:c.681C>T
|
ENSP00000512723.1:p.Ile227=
|
|
|
ENST00000696566.1:n.563C>T
|
|
|
|
ENST00000696567.1:c.621C>T
|
ENSP00000512724.1:p.Ile207=
|
|
|
ENST00000696569.1:n.649C>T
|
|
|
|
ENST00000696570.1:c.*71C>T
|
ENSP00000512725.1:n.*71C>T
|
|
|
ENST00000696594.1:c.621C>T
|
ENSP00000512739.1:p.Ile207=
|
|
|
ENST00000696595.1:c.564C>T
|
ENSP00000512740.1:p.Ile188=
|
|
|
ENST00000696619.1:n.1737C>T
|
|
|
|
ENST00000696620.1:c.297C>T
|
ENSP00000512759.1:p.Ile99=
|
|
|
ENST00000696621.1:c.621C>T
|
ENSP00000512760.1:p.Ile207=
|
|
|
ENST00000696622.1:n.685C>T
|
|
|
|
ENST00000696623.1:n.506C>T
|
|
|
|
ENST00000696624.1:c.636C>T
|
ENSP00000512761.1:p.Ile212=
|
|
|
ENST00000696625.1:c.*71C>T
|
ENSP00000512762.1:n.*71C>T
|
|
|
ENST00000696634.1:c.358C>T
|
ENSP00000512770.1:n.358C>T
|
|
|
ENST00000696635.1:c.621C>T
|
ENSP00000512771.1:p.Ile207=
|
|
|
ENST00000696636.1:n.1406C>T
|
|
|
|
ENST00000696637.1:n.5048C>T
|
|
|
|
ENST00000696638.1:n.636C>T
|
|
|
|
ENST00000696639.1:n.53C>T
|
|
|
|
ENST00000233741.9:c.621C>T
MANE Select
|
ENSP00000233741.5:p.Ile207=
|
|
|
ENST00000233741.8:c.621C>T
|
ENSP00000233741.4:p.Ile207=
|
|
|
ENST00000402135.7:c.636C>T
|
ENSP00000385021.3:p.Ile212=
|
|
|
ENST00000403295.7:c.621C>T
|
ENSP00000386097.3:p.Ile207=
|
|
|
ENST00000403676.5:c.270C>T
|
ENSP00000384046.1:p.Ile90=
|
|
|
ENST00000417361.1:c.285C>T
|
ENSP00000389448.1:p.Ile95=
|
|
|
ENST00000427708.6:c.664C>T
|
|
|
|
ENST00000446381.5:c.177C>T
|
ENSP00000390991.1:p.Ile59=
|
|
|
ENST00000449070.5:c.444C>T
|
ENSP00000401280.1:p.Ile148=
|
|
|
ENST00000470506.1:n.10C>T
|
|
|
|
NM_001114636.1:c.636C>T , LRG_501t1:c.636C>T
|
NP_001108108.1:p.Ile212=
|
|
|
NM_018062.3:c.621C>T , LRG_501t2:c.621C>T
|
NP_060532.2:p.Ile207=
|
|
|
XM_005264395.2:c.621C>T
|
XP_005264452.1:p.Ile207=
|
|
|
XM_005264397.3:c.270C>T
|
XP_005264454.1:p.Ile90=
|
|
|
XM_011532939.1:c.681C>T
|
XP_011531241.1:p.Ile227=
|
|
|
XM_011532940.1:c.666C>T
|
XP_011531242.1:p.Ile222=
|
|
|
XM_011532941.1:c.681C>T
|
XP_011531243.1:p.Ile227=
|
|
|
XM_011532942.1:c.636C>T
|
XP_011531244.1:p.Ile212=
|
|
|
XM_011532943.1:c.882C>T
|
XP_011531245.1:p.Ile294=
|
|
|
XM_011532944.1:c.330C>T
|
XP_011531246.1:p.Ile110=
|
|
|
XM_011532945.1:c.285C>T
|
XP_011531247.1:p.Ile95=
|
|
|
XR_939692.1:n.748C>T
|
|
|
|
NR_156742.1:n.410C>T
|
|
|
|
XM_005264395.4:c.621C>T
|
XP_005264452.1:p.Ile207=
|
|
|
XM_011532939.3:c.681C>T
|
XP_011531241.1:p.Ile227=
|
|
|
XM_011532940.3:c.666C>T
|
XP_011531242.1:p.Ile222=
|
|
|
XM_011532941.2:c.681C>T
|
XP_011531243.1:p.Ile227=
|
|
|
XM_011532942.3:c.636C>T
|
XP_011531244.1:p.Ile212=
|
|
|
XM_011532944.2:c.330C>T
|
XP_011531246.1:p.Ile110=
|
|
|
XM_011532945.2:c.285C>T
|
XP_011531247.1:p.Ile95=
|
|
|
XM_017004414.2:c.666C>T
|
XP_016859903.1:p.Ile222=
|
|
|
XM_017004416.1:c.270C>T
|
XP_016859905.1:p.Ile90=
|
|
|
XR_001738802.2:n.695C>T
|
|
|
|
XR_001738803.2:n.680C>T
|
|
|
|
XR_002959309.1:n.823C>T
|
|
|
|
XR_939692.2:n.740C>T
|
|
|
|
NM_001374615.1:c.666C>T
|
NP_001361544.1:p.Ile222=
|
|
|
NM_018062.4:c.621C>T
MANE Select
|
NP_060532.2:p.Ile207=
|
|
|
NR_164659.1:n.630C>T
|
|
|
